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Special Issue: A Guide to Using Neuromuscular Disease Models for Basic and Preclinical Studies
Guest Editors: Annemieke Aartsma-Rus, James Dowling, Maaike van Putten
February, 2020; 13 (2)
  • A
  • B
  • C
  • D
  • E
  • F
  • G
  • H
  • I
  • J
  • K
  • L
  • M
  • N
  • O
  • P
  • Q
  • R
  • S
  • T
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  • W
  • X
  • Y
  • Z

A

  1. Aartsma-Rus, Annemieke

    1. SPECIAL ARTICLE
      The use of genetically humanized animal models for personalized medicine approaches
      Annemieke Aartsma-Rus, Maaike van Putten
      Disease Models & Mechanisms 2020 13: dmm041673 doi: 10.1242/dmm.041673 Published 1 October 2019
    2. REVIEW
      Improving translatability of preclinical studies for neuromuscular disorders: lessons from the TREAT-NMD Advisory Committee for Therapeutics (TACT)
      Raffaella Willmann, Joanne Lee, Cathy Turner, Kanneboyina Nagaraju, Annemieke Aartsma-Rus, Dominic J. Wells, Kathryn R. Wagner, Cristina Csimma, Volker Straub, Miranda D. Grounds, Annamaria De Luca
      Disease Models & Mechanisms 2020 13: dmm042903 doi: 10.1242/dmm.042903 Published 7 February 2020
    3. EDITORIAL
      Moving neuromuscular disorders research forward: from novel models to clinical studies
      Maaike van Putten, Julija Hmeljak, Annemieke Aartsma-Rus, James J. Dowling
      Disease Models & Mechanisms 2020 13: dmm044370 doi: 10.1242/dmm.044370 Published 25 February 2020
  2. Ahmed, Syed F.

    1. RESEARCH ARTICLE
      A comparison of the bone and growth phenotype of mdx, mdx:Cmah−/− and mdx:Utrn+/− murine models with the C57BL/10 wild-type mouse
      Claire L. Wood, Karla J. Suchacki, Rob van ’t Hof, Will P. Cawthorn, Scott Dillon, Volker Straub, Sze Choong Wong, Syed F. Ahmed, Colin Farquharson
      Disease Models & Mechanisms 2020 13: dmm040659 doi: 10.1242/dmm.040659 Published 10 January 2020
  3. Al-Mshhdani, Basma A.

    1. REVIEW
      Biomarkers for Duchenne muscular dystrophy: myonecrosis, inflammation and oxidative stress
      Miranda D. Grounds, Jessica R. Terrill, Basma A. Al-Mshhdani, Marisa N. Duong, Hannah G. Radley-Crabb, Peter G. Arthur
      Disease Models & Mechanisms 2020 13: dmm043638 doi: 10.1242/dmm.043638 Published 2 March 2020
  4. Almeida, Camila F.

    1. RESEARCH ARTICLE
      Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy
      Stephanie A. Fernandes, Camila F. Almeida, Lucas S. Souza, Monize Lazar, Paula Onofre-Oliveira, Guilherme L. Yamamoto, Letícia Nogueira, Letícia Y. Tasaki, Rafaela R. Cardoso, Rita C. M. Pavanello, Helga C. A. Silva, Merari F. R. Ferrari, Anne Bigot, Vincent Mouly, Mariz Vainzof
      Disease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020
  5. Arancillo, Marife

    1. RESEARCH ARTICLE
      In vivo cerebellar circuit function is disrupted in an mdx mouse model of Duchenne muscular dystrophy
      Trace L. Stay, Lauren N. Miterko, Marife Arancillo, Tao Lin, Roy V. Sillitoe
      Disease Models & Mechanisms 2020 13: dmm040840 doi: 10.1242/dmm.040840 Published 9 December 2019
  6. Ardan, Taras

    1. RESEARCH ARTICLE
      Transgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegeneration
      Taras Ardan, Monika Baxa, Božena Levinská, Miroslava Sedláčková, The Duong Nguyen, Jiří Klíma, Štefan Juhás, Jana Juhásová, Petra Šmatlíková, Petra Vochozková, Jan Motlík, Zdenka Ellederová
      Disease Models & Mechanisms 2020 13: dmm041319 doi: 10.1242/dmm.041319 Published 12 December 2019
  7. Arthur, Peter G.

    1. REVIEW
      Biomarkers for Duchenne muscular dystrophy: myonecrosis, inflammation and oxidative stress
      Miranda D. Grounds, Jessica R. Terrill, Basma A. Al-Mshhdani, Marisa N. Duong, Hannah G. Radley-Crabb, Peter G. Arthur
      Disease Models & Mechanisms 2020 13: dmm043638 doi: 10.1242/dmm.043638 Published 2 March 2020

B

  1. Barefield, David Y.

    1. RESEARCH ARTICLE
      A gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skipping
      Alexis R. Demonbreun, Eugene J. Wyatt, Katherine S. Fallon, Claire C. Oosterbaan, Patrick G. Page, Michele Hadhazy, Mattia Quattrocelli, David Y. Barefield, Elizabeth M. McNally
      Disease Models & Mechanisms 2020 13: dmm040832 doi: 10.1242/dmm.040832 Published 4 November 2019
  2. Bassis, Christine M.

    1. RESEARCH ARTICLE
      Temporal evolution of the microbiome, immune system and epigenome with disease progression in ALS mice
      Claudia Figueroa-Romero, Kai Guo, Benjamin J. Murdock, Ximena Paez-Colasante, Christine M. Bassis, Kristen A. Mikhail, Kristen D. Raue, Matthew C. Evans, Ghislaine F. Taubman, Andrew J. McDermott, Phillipe D. O'Brien, Masha G. Savelieff, Junguk Hur, Eva L. Feldman
      Disease Models & Mechanisms 2020 13: dmm041947 doi: 10.1242/dmm.041947 Published 15 November 2019
  3. Baxa, Monika

    1. RESEARCH ARTICLE
      Longitudinal study revealing motor, cognitive and behavioral decline in a transgenic minipig model of Huntington's disease
      Monika Baxa, Bozena Levinska, Monika Skrivankova, Matous Pokorny, Jana Juhasova, Jiri Klima, Jiri Klempir, Jan Motlı́k, Stefan Juhas, Zdenka Ellederova
      Disease Models & Mechanisms 2020 13: dmm041293 doi: 10.1242/dmm.041293 Published 12 December 2019
    2. RESEARCH ARTICLE
      Transgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegeneration
      Taras Ardan, Monika Baxa, Božena Levinská, Miroslava Sedláčková, The Duong Nguyen, Jiří Klíma, Štefan Juhás, Jana Juhásová, Petra Šmatlíková, Petra Vochozková, Jan Motlík, Zdenka Ellederová
      Disease Models & Mechanisms 2020 13: dmm041319 doi: 10.1242/dmm.041319 Published 12 December 2019
  4. Bertoni, Alessandra

    1. RESEARCH ARTICLE
      A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy
      Celia Cordero-Sanchez, Beatrice Riva, Simone Reano, Nausicaa Clemente, Ivan Zaggia, Federico A. Ruffinatti, Alberto Potenzieri, Tracey Pirali, Salvatore Raffa, Sabina Sangaletti, Mario P. Colombo, Alessandra Bertoni, Matteo Garibaldi, Nicoletta Filigheddu, Armando A. Genazzani
      Disease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019
  5. Bigot, Anne

    1. RESEARCH ARTICLE
      Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy
      Stephanie A. Fernandes, Camila F. Almeida, Lucas S. Souza, Monize Lazar, Paula Onofre-Oliveira, Guilherme L. Yamamoto, Letícia Nogueira, Letícia Y. Tasaki, Rafaela R. Cardoso, Rita C. M. Pavanello, Helga C. A. Silva, Merari F. R. Ferrari, Anne Bigot, Vincent Mouly, Mariz Vainzof
      Disease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020

C

  1. Cardoso, Rafaela R.

    1. RESEARCH ARTICLE
      Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy
      Stephanie A. Fernandes, Camila F. Almeida, Lucas S. Souza, Monize Lazar, Paula Onofre-Oliveira, Guilherme L. Yamamoto, Letícia Nogueira, Letícia Y. Tasaki, Rafaela R. Cardoso, Rita C. M. Pavanello, Helga C. A. Silva, Merari F. R. Ferrari, Anne Bigot, Vincent Mouly, Mariz Vainzof
      Disease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020
  2. Cawthorn, Will P.

    1. RESEARCH ARTICLE
      A comparison of the bone and growth phenotype of mdx, mdx:Cmah−/− and mdx:Utrn+/− murine models with the C57BL/10 wild-type mouse
      Claire L. Wood, Karla J. Suchacki, Rob van ’t Hof, Will P. Cawthorn, Scott Dillon, Volker Straub, Sze Choong Wong, Syed F. Ahmed, Colin Farquharson
      Disease Models & Mechanisms 2020 13: dmm040659 doi: 10.1242/dmm.040659 Published 10 January 2020
  3. Chagovetz, Alexis A.

    1. RESEARCH ARTICLE
      Interactions among ryanodine receptor isotypes contribute to muscle fiber type development and function
      Alexis A. Chagovetz, Dana Klatt Shaw, Erin Ritchie, Kazuyuki Hoshijima, David J. Grunwald
      Disease Models & Mechanisms 2020 13: dmm038844 doi: 10.1242/dmm.038844 Published 18 September 2019
  4. Clemente, Nausicaa

    1. RESEARCH ARTICLE
      A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy
      Celia Cordero-Sanchez, Beatrice Riva, Simone Reano, Nausicaa Clemente, Ivan Zaggia, Federico A. Ruffinatti, Alberto Potenzieri, Tracey Pirali, Salvatore Raffa, Sabina Sangaletti, Mario P. Colombo, Alessandra Bertoni, Matteo Garibaldi, Nicoletta Filigheddu, Armando A. Genazzani
      Disease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019
  5. Colombo, Mario P.

    1. RESEARCH ARTICLE
      A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy
      Celia Cordero-Sanchez, Beatrice Riva, Simone Reano, Nausicaa Clemente, Ivan Zaggia, Federico A. Ruffinatti, Alberto Potenzieri, Tracey Pirali, Salvatore Raffa, Sabina Sangaletti, Mario P. Colombo, Alessandra Bertoni, Matteo Garibaldi, Nicoletta Filigheddu, Armando A. Genazzani
      Disease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019
  6. Cordero-Sanchez, Celia

    1. RESEARCH ARTICLE
      A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy
      Celia Cordero-Sanchez, Beatrice Riva, Simone Reano, Nausicaa Clemente, Ivan Zaggia, Federico A. Ruffinatti, Alberto Potenzieri, Tracey Pirali, Salvatore Raffa, Sabina Sangaletti, Mario P. Colombo, Alessandra Bertoni, Matteo Garibaldi, Nicoletta Filigheddu, Armando A. Genazzani
      Disease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019
  7. Cowling, Belinda S.

    1. SPECIAL ARTICLE
      Translational medicine in neuromuscular disorders: from academia to industry
      Belinda S. Cowling, Leen Thielemans
      Disease Models & Mechanisms 2020 13: dmm041434 doi: 10.1242/dmm.041434 Published 24 October 2019
  8. Csimma, Cristina

    1. REVIEW
      Improving translatability of preclinical studies for neuromuscular disorders: lessons from the TREAT-NMD Advisory Committee for Therapeutics (TACT)
      Raffaella Willmann, Joanne Lee, Cathy Turner, Kanneboyina Nagaraju, Annemieke Aartsma-Rus, Dominic J. Wells, Kathryn R. Wagner, Cristina Csimma, Volker Straub, Miranda D. Grounds, Annamaria De Luca
      Disease Models & Mechanisms 2020 13: dmm042903 doi: 10.1242/dmm.042903 Published 7 February 2020
  9. Cutrupi, Anthony

    1. RESEARCH ARTICLE
      Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs
      Gonzalo Perez-Siles, Anthony Cutrupi, Melina Ellis, Jakob Kuriakose, Sharon La Fontaine, Di Mao, Motonari Uesugi, Reinaldo I. Takata, Carlos E. Speck-Martins, Garth Nicholson, Marina L. Kennerson
      Disease Models & Mechanisms 2020 13: dmm041541 doi: 10.1242/dmm.041541 Published 13 January 2020

D

  1. de Greef, Jessica C.

    1. REVIEW
      Mouse models for muscular dystrophies: an overview
      Maaike van Putten, Erin M. Lloyd, Jessica C. de Greef, Vered Raz, Raffaella Willmann, Miranda D. Grounds
      Disease Models & Mechanisms 2020 13: dmm043562 doi: 10.1242/dmm.043562 Published 21 February 2020
  2. De Luca, Annamaria

    1. REVIEW
      Improving translatability of preclinical studies for neuromuscular disorders: lessons from the TREAT-NMD Advisory Committee for Therapeutics (TACT)
      Raffaella Willmann, Joanne Lee, Cathy Turner, Kanneboyina Nagaraju, Annemieke Aartsma-Rus, Dominic J. Wells, Kathryn R. Wagner, Cristina Csimma, Volker Straub, Miranda D. Grounds, Annamaria De Luca
      Disease Models & Mechanisms 2020 13: dmm042903 doi: 10.1242/dmm.042903 Published 7 February 2020
  3. Demonbreun, Alexis R.

    1. RESEARCH ARTICLE
      A gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skipping
      Alexis R. Demonbreun, Eugene J. Wyatt, Katherine S. Fallon, Claire C. Oosterbaan, Patrick G. Page, Michele Hadhazy, Mattia Quattrocelli, David Y. Barefield, Elizabeth M. McNally
      Disease Models & Mechanisms 2020 13: dmm040832 doi: 10.1242/dmm.040832 Published 4 November 2019
  4. Dillon, Scott

    1. RESEARCH ARTICLE
      A comparison of the bone and growth phenotype of mdx, mdx:Cmah−/− and mdx:Utrn+/− murine models with the C57BL/10 wild-type mouse
      Claire L. Wood, Karla J. Suchacki, Rob van ’t Hof, Will P. Cawthorn, Scott Dillon, Volker Straub, Sze Choong Wong, Syed F. Ahmed, Colin Farquharson
      Disease Models & Mechanisms 2020 13: dmm040659 doi: 10.1242/dmm.040659 Published 10 January 2020
  5. Dowling, James J.

    1. EDITORIAL
      Moving neuromuscular disorders research forward: from novel models to clinical studies
      Maaike van Putten, Julija Hmeljak, Annemieke Aartsma-Rus, James J. Dowling
      Disease Models & Mechanisms 2020 13: dmm044370 doi: 10.1242/dmm.044370 Published 25 February 2020
  6. Duong, Marisa N.

    1. REVIEW
      Biomarkers for Duchenne muscular dystrophy: myonecrosis, inflammation and oxidative stress
      Miranda D. Grounds, Jessica R. Terrill, Basma A. Al-Mshhdani, Marisa N. Duong, Hannah G. Radley-Crabb, Peter G. Arthur
      Disease Models & Mechanisms 2020 13: dmm043638 doi: 10.1242/dmm.043638 Published 2 March 2020

E

  1. Eid, Stephanie A.

    1. RESEARCH ARTICLE
      Integrated lipidomic and transcriptomic analyses identify altered nerve triglycerides in mouse models of prediabetes and type 2 diabetes
      Phillipe D. O'Brien, Kai Guo, Stephanie A. Eid, Amy E. Rumora, Lucy M. Hinder, John M. Hayes, Faye E. Mendelson, Junguk Hur, Eva L. Feldman
      Disease Models & Mechanisms 2020 13: dmm042101 doi: 10.1242/dmm.042101 Published 24 January 2020
  2. Ellederová, Zdenka

    1. RESEARCH ARTICLE
      Transgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegeneration
      Taras Ardan, Monika Baxa, Božena Levinská, Miroslava Sedláčková, The Duong Nguyen, Jiří Klíma, Štefan Juhás, Jana Juhásová, Petra Šmatlíková, Petra Vochozková, Jan Motlík, Zdenka Ellederová
      Disease Models & Mechanisms 2020 13: dmm041319 doi: 10.1242/dmm.041319 Published 12 December 2019
  3. Ellederova, Zdenka

    1. RESEARCH ARTICLE
      Longitudinal study revealing motor, cognitive and behavioral decline in a transgenic minipig model of Huntington's disease
      Monika Baxa, Bozena Levinska, Monika Skrivankova, Matous Pokorny, Jana Juhasova, Jiri Klima, Jiri Klempir, Jan Motlı́k, Stefan Juhas, Zdenka Ellederova
      Disease Models & Mechanisms 2020 13: dmm041293 doi: 10.1242/dmm.041293 Published 12 December 2019
  4. Ellis, Melina

    1. RESEARCH ARTICLE
      Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs
      Gonzalo Perez-Siles, Anthony Cutrupi, Melina Ellis, Jakob Kuriakose, Sharon La Fontaine, Di Mao, Motonari Uesugi, Reinaldo I. Takata, Carlos E. Speck-Martins, Garth Nicholson, Marina L. Kennerson
      Disease Models & Mechanisms 2020 13: dmm041541 doi: 10.1242/dmm.041541 Published 13 January 2020
  5. Evans, Matthew C.

    1. RESEARCH ARTICLE
      Temporal evolution of the microbiome, immune system and epigenome with disease progression in ALS mice
      Claudia Figueroa-Romero, Kai Guo, Benjamin J. Murdock, Ximena Paez-Colasante, Christine M. Bassis, Kristen A. Mikhail, Kristen D. Raue, Matthew C. Evans, Ghislaine F. Taubman, Andrew J. McDermott, Phillipe D. O'Brien, Masha G. Savelieff, Junguk Hur, Eva L. Feldman
      Disease Models & Mechanisms 2020 13: dmm041947 doi: 10.1242/dmm.041947 Published 15 November 2019

F

  1. Fallon, Katherine S.

    1. RESEARCH ARTICLE
      A gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skipping
      Alexis R. Demonbreun, Eugene J. Wyatt, Katherine S. Fallon, Claire C. Oosterbaan, Patrick G. Page, Michele Hadhazy, Mattia Quattrocelli, David Y. Barefield, Elizabeth M. McNally
      Disease Models & Mechanisms 2020 13: dmm040832 doi: 10.1242/dmm.040832 Published 4 November 2019
  2. Farquharson, Colin

    1. RESEARCH ARTICLE
      A comparison of the bone and growth phenotype of mdx, mdx:Cmah−/− and mdx:Utrn+/− murine models with the C57BL/10 wild-type mouse
      Claire L. Wood, Karla J. Suchacki, Rob van ’t Hof, Will P. Cawthorn, Scott Dillon, Volker Straub, Sze Choong Wong, Syed F. Ahmed, Colin Farquharson
      Disease Models & Mechanisms 2020 13: dmm040659 doi: 10.1242/dmm.040659 Published 10 January 2020
  3. Feldman, Eva L.

    1. RESEARCH ARTICLE
      Temporal evolution of the microbiome, immune system and epigenome with disease progression in ALS mice
      Claudia Figueroa-Romero, Kai Guo, Benjamin J. Murdock, Ximena Paez-Colasante, Christine M. Bassis, Kristen A. Mikhail, Kristen D. Raue, Matthew C. Evans, Ghislaine F. Taubman, Andrew J. McDermott, Phillipe D. O'Brien, Masha G. Savelieff, Junguk Hur, Eva L. Feldman
      Disease Models & Mechanisms 2020 13: dmm041947 doi: 10.1242/dmm.041947 Published 15 November 2019
    2. RESEARCH ARTICLE
      Integrated lipidomic and transcriptomic analyses identify altered nerve triglycerides in mouse models of prediabetes and type 2 diabetes
      Phillipe D. O'Brien, Kai Guo, Stephanie A. Eid, Amy E. Rumora, Lucy M. Hinder, John M. Hayes, Faye E. Mendelson, Junguk Hur, Eva L. Feldman
      Disease Models & Mechanisms 2020 13: dmm042101 doi: 10.1242/dmm.042101 Published 24 January 2020
  4. Fernandes, Stephanie A.

    1. RESEARCH ARTICLE
      Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy
      Stephanie A. Fernandes, Camila F. Almeida, Lucas S. Souza, Monize Lazar, Paula Onofre-Oliveira, Guilherme L. Yamamoto, Letícia Nogueira, Letícia Y. Tasaki, Rafaela R. Cardoso, Rita C. M. Pavanello, Helga C. A. Silva, Merari F. R. Ferrari, Anne Bigot, Vincent Mouly, Mariz Vainzof
      Disease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020
  5. Ferrari, Merari F. R.

    1. RESEARCH ARTICLE
      Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy
      Stephanie A. Fernandes, Camila F. Almeida, Lucas S. Souza, Monize Lazar, Paula Onofre-Oliveira, Guilherme L. Yamamoto, Letícia Nogueira, Letícia Y. Tasaki, Rafaela R. Cardoso, Rita C. M. Pavanello, Helga C. A. Silva, Merari F. R. Ferrari, Anne Bigot, Vincent Mouly, Mariz Vainzof
      Disease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020
  6. Figueroa-Romero, Claudia

    1. RESEARCH ARTICLE
      Temporal evolution of the microbiome, immune system and epigenome with disease progression in ALS mice
      Claudia Figueroa-Romero, Kai Guo, Benjamin J. Murdock, Ximena Paez-Colasante, Christine M. Bassis, Kristen A. Mikhail, Kristen D. Raue, Matthew C. Evans, Ghislaine F. Taubman, Andrew J. McDermott, Phillipe D. O'Brien, Masha G. Savelieff, Junguk Hur, Eva L. Feldman
      Disease Models & Mechanisms 2020 13: dmm041947 doi: 10.1242/dmm.041947 Published 15 November 2019
  7. Filigheddu, Nicoletta

    1. RESEARCH ARTICLE
      A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy
      Celia Cordero-Sanchez, Beatrice Riva, Simone Reano, Nausicaa Clemente, Ivan Zaggia, Federico A. Ruffinatti, Alberto Potenzieri, Tracey Pirali, Salvatore Raffa, Sabina Sangaletti, Mario P. Colombo, Alessandra Bertoni, Matteo Garibaldi, Nicoletta Filigheddu, Armando A. Genazzani
      Disease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019

G

  1. Garibaldi, Matteo

    1. RESEARCH ARTICLE
      A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy
      Celia Cordero-Sanchez, Beatrice Riva, Simone Reano, Nausicaa Clemente, Ivan Zaggia, Federico A. Ruffinatti, Alberto Potenzieri, Tracey Pirali, Salvatore Raffa, Sabina Sangaletti, Mario P. Colombo, Alessandra Bertoni, Matteo Garibaldi, Nicoletta Filigheddu, Armando A. Genazzani
      Disease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019
  2. Genazzani, Armando A.

    1. RESEARCH ARTICLE
      A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy
      Celia Cordero-Sanchez, Beatrice Riva, Simone Reano, Nausicaa Clemente, Ivan Zaggia, Federico A. Ruffinatti, Alberto Potenzieri, Tracey Pirali, Salvatore Raffa, Sabina Sangaletti, Mario P. Colombo, Alessandra Bertoni, Matteo Garibaldi, Nicoletta Filigheddu, Armando A. Genazzani
      Disease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019
  3. Grounds, Miranda D.

    1. REVIEW
      Improving translatability of preclinical studies for neuromuscular disorders: lessons from the TREAT-NMD Advisory Committee for Therapeutics (TACT)
      Raffaella Willmann, Joanne Lee, Cathy Turner, Kanneboyina Nagaraju, Annemieke Aartsma-Rus, Dominic J. Wells, Kathryn R. Wagner, Cristina Csimma, Volker Straub, Miranda D. Grounds, Annamaria De Luca
      Disease Models & Mechanisms 2020 13: dmm042903 doi: 10.1242/dmm.042903 Published 7 February 2020
    2. REVIEW
      Mouse models for muscular dystrophies: an overview
      Maaike van Putten, Erin M. Lloyd, Jessica C. de Greef, Vered Raz, Raffaella Willmann, Miranda D. Grounds
      Disease Models & Mechanisms 2020 13: dmm043562 doi: 10.1242/dmm.043562 Published 21 February 2020
    3. REVIEW
      Biomarkers for Duchenne muscular dystrophy: myonecrosis, inflammation and oxidative stress
      Miranda D. Grounds, Jessica R. Terrill, Basma A. Al-Mshhdani, Marisa N. Duong, Hannah G. Radley-Crabb, Peter G. Arthur
      Disease Models & Mechanisms 2020 13: dmm043638 doi: 10.1242/dmm.043638 Published 2 March 2020
  4. Grunwald, David J.

    1. RESEARCH ARTICLE
      Interactions among ryanodine receptor isotypes contribute to muscle fiber type development and function
      Alexis A. Chagovetz, Dana Klatt Shaw, Erin Ritchie, Kazuyuki Hoshijima, David J. Grunwald
      Disease Models & Mechanisms 2020 13: dmm038844 doi: 10.1242/dmm.038844 Published 18 September 2019
  5. Guo, Kai

    1. RESEARCH ARTICLE
      Temporal evolution of the microbiome, immune system and epigenome with disease progression in ALS mice
      Claudia Figueroa-Romero, Kai Guo, Benjamin J. Murdock, Ximena Paez-Colasante, Christine M. Bassis, Kristen A. Mikhail, Kristen D. Raue, Matthew C. Evans, Ghislaine F. Taubman, Andrew J. McDermott, Phillipe D. O'Brien, Masha G. Savelieff, Junguk Hur, Eva L. Feldman
      Disease Models & Mechanisms 2020 13: dmm041947 doi: 10.1242/dmm.041947 Published 15 November 2019
    2. RESEARCH ARTICLE
      Integrated lipidomic and transcriptomic analyses identify altered nerve triglycerides in mouse models of prediabetes and type 2 diabetes
      Phillipe D. O'Brien, Kai Guo, Stephanie A. Eid, Amy E. Rumora, Lucy M. Hinder, John M. Hayes, Faye E. Mendelson, Junguk Hur, Eva L. Feldman
      Disease Models & Mechanisms 2020 13: dmm042101 doi: 10.1242/dmm.042101 Published 24 January 2020

H

  1. Hadhazy, Michele

    1. RESEARCH ARTICLE
      A gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skipping
      Alexis R. Demonbreun, Eugene J. Wyatt, Katherine S. Fallon, Claire C. Oosterbaan, Patrick G. Page, Michele Hadhazy, Mattia Quattrocelli, David Y. Barefield, Elizabeth M. McNally
      Disease Models & Mechanisms 2020 13: dmm040832 doi: 10.1242/dmm.040832 Published 4 November 2019
  2. Hayes, John M.

    1. RESEARCH ARTICLE
      Integrated lipidomic and transcriptomic analyses identify altered nerve triglycerides in mouse models of prediabetes and type 2 diabetes
      Phillipe D. O'Brien, Kai Guo, Stephanie A. Eid, Amy E. Rumora, Lucy M. Hinder, John M. Hayes, Faye E. Mendelson, Junguk Hur, Eva L. Feldman
      Disease Models & Mechanisms 2020 13: dmm042101 doi: 10.1242/dmm.042101 Published 24 January 2020
  3. Hinder, Lucy M.

    1. RESEARCH ARTICLE
      Integrated lipidomic and transcriptomic analyses identify altered nerve triglycerides in mouse models of prediabetes and type 2 diabetes
      Phillipe D. O'Brien, Kai Guo, Stephanie A. Eid, Amy E. Rumora, Lucy M. Hinder, John M. Hayes, Faye E. Mendelson, Junguk Hur, Eva L. Feldman
      Disease Models & Mechanisms 2020 13: dmm042101 doi: 10.1242/dmm.042101 Published 24 January 2020
  4. Hmeljak, Julija

    1. EDITORIAL
      Moving neuromuscular disorders research forward: from novel models to clinical studies
      Maaike van Putten, Julija Hmeljak, Annemieke Aartsma-Rus, James J. Dowling
      Disease Models & Mechanisms 2020 13: dmm044370 doi: 10.1242/dmm.044370 Published 25 February 2020
  5. Hoshijima, Kazuyuki

    1. RESEARCH ARTICLE
      Interactions among ryanodine receptor isotypes contribute to muscle fiber type development and function
      Alexis A. Chagovetz, Dana Klatt Shaw, Erin Ritchie, Kazuyuki Hoshijima, David J. Grunwald
      Disease Models & Mechanisms 2020 13: dmm038844 doi: 10.1242/dmm.038844 Published 18 September 2019
  6. Hur, Junguk

    1. RESEARCH ARTICLE
      Temporal evolution of the microbiome, immune system and epigenome with disease progression in ALS mice
      Claudia Figueroa-Romero, Kai Guo, Benjamin J. Murdock, Ximena Paez-Colasante, Christine M. Bassis, Kristen A. Mikhail, Kristen D. Raue, Matthew C. Evans, Ghislaine F. Taubman, Andrew J. McDermott, Phillipe D. O'Brien, Masha G. Savelieff, Junguk Hur, Eva L. Feldman
      Disease Models & Mechanisms 2020 13: dmm041947 doi: 10.1242/dmm.041947 Published 15 November 2019
    2. RESEARCH ARTICLE
      Integrated lipidomic and transcriptomic analyses identify altered nerve triglycerides in mouse models of prediabetes and type 2 diabetes
      Phillipe D. O'Brien, Kai Guo, Stephanie A. Eid, Amy E. Rumora, Lucy M. Hinder, John M. Hayes, Faye E. Mendelson, Junguk Hur, Eva L. Feldman
      Disease Models & Mechanisms 2020 13: dmm042101 doi: 10.1242/dmm.042101 Published 24 January 2020

J

  1. Juhas, Stefan

    1. RESEARCH ARTICLE
      Longitudinal study revealing motor, cognitive and behavioral decline in a transgenic minipig model of Huntington's disease
      Monika Baxa, Bozena Levinska, Monika Skrivankova, Matous Pokorny, Jana Juhasova, Jiri Klima, Jiri Klempir, Jan Motlı́k, Stefan Juhas, Zdenka Ellederova
      Disease Models & Mechanisms 2020 13: dmm041293 doi: 10.1242/dmm.041293 Published 12 December 2019
  2. Juhás, Štefan

    1. RESEARCH ARTICLE
      Transgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegeneration
      Taras Ardan, Monika Baxa, Božena Levinská, Miroslava Sedláčková, The Duong Nguyen, Jiří Klíma, Štefan Juhás, Jana Juhásová, Petra Šmatlíková, Petra Vochozková, Jan Motlík, Zdenka Ellederová
      Disease Models & Mechanisms 2020 13: dmm041319 doi: 10.1242/dmm.041319 Published 12 December 2019
  3. Juhásová, Jana

    1. RESEARCH ARTICLE
      Transgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegeneration
      Taras Ardan, Monika Baxa, Božena Levinská, Miroslava Sedláčková, The Duong Nguyen, Jiří Klíma, Štefan Juhás, Jana Juhásová, Petra Šmatlíková, Petra Vochozková, Jan Motlík, Zdenka Ellederová
      Disease Models & Mechanisms 2020 13: dmm041319 doi: 10.1242/dmm.041319 Published 12 December 2019
  4. Juhasova, Jana

    1. RESEARCH ARTICLE
      Longitudinal study revealing motor, cognitive and behavioral decline in a transgenic minipig model of Huntington's disease
      Monika Baxa, Bozena Levinska, Monika Skrivankova, Matous Pokorny, Jana Juhasova, Jiri Klima, Jiri Klempir, Jan Motlı́k, Stefan Juhas, Zdenka Ellederova
      Disease Models & Mechanisms 2020 13: dmm041293 doi: 10.1242/dmm.041293 Published 12 December 2019

K

  1. Kennerson, Marina L.

    1. RESEARCH ARTICLE
      Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs
      Gonzalo Perez-Siles, Anthony Cutrupi, Melina Ellis, Jakob Kuriakose, Sharon La Fontaine, Di Mao, Motonari Uesugi, Reinaldo I. Takata, Carlos E. Speck-Martins, Garth Nicholson, Marina L. Kennerson
      Disease Models & Mechanisms 2020 13: dmm041541 doi: 10.1242/dmm.041541 Published 13 January 2020
  2. Klatt Shaw, Dana

    1. RESEARCH ARTICLE
      Interactions among ryanodine receptor isotypes contribute to muscle fiber type development and function
      Alexis A. Chagovetz, Dana Klatt Shaw, Erin Ritchie, Kazuyuki Hoshijima, David J. Grunwald
      Disease Models & Mechanisms 2020 13: dmm038844 doi: 10.1242/dmm.038844 Published 18 September 2019
  3. Klempir, Jiri

    1. RESEARCH ARTICLE
      Longitudinal study revealing motor, cognitive and behavioral decline in a transgenic minipig model of Huntington's disease
      Monika Baxa, Bozena Levinska, Monika Skrivankova, Matous Pokorny, Jana Juhasova, Jiri Klima, Jiri Klempir, Jan Motlı́k, Stefan Juhas, Zdenka Ellederova
      Disease Models & Mechanisms 2020 13: dmm041293 doi: 10.1242/dmm.041293 Published 12 December 2019
  4. Klima, Jiri

    1. RESEARCH ARTICLE
      Longitudinal study revealing motor, cognitive and behavioral decline in a transgenic minipig model of Huntington's disease
      Monika Baxa, Bozena Levinska, Monika Skrivankova, Matous Pokorny, Jana Juhasova, Jiri Klima, Jiri Klempir, Jan Motlı́k, Stefan Juhas, Zdenka Ellederova
      Disease Models & Mechanisms 2020 13: dmm041293 doi: 10.1242/dmm.041293 Published 12 December 2019
  5. Klíma, Jiří

    1. RESEARCH ARTICLE
      Transgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegeneration
      Taras Ardan, Monika Baxa, Božena Levinská, Miroslava Sedláčková, The Duong Nguyen, Jiří Klíma, Štefan Juhás, Jana Juhásová, Petra Šmatlíková, Petra Vochozková, Jan Motlík, Zdenka Ellederová
      Disease Models & Mechanisms 2020 13: dmm041319 doi: 10.1242/dmm.041319 Published 12 December 2019
  6. Kunkel, Louis M.

    1. A MODEL FOR LIFE
      To dystrophin and beyond: an interview with Louis Kunkel
      Louis M. Kunkel
      Disease Models & Mechanisms 2020 13: dmm043018 doi: 10.1242/dmm.043018 Published 12 December 2019
  7. Kuriakose, Jakob

    1. RESEARCH ARTICLE
      Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs
      Gonzalo Perez-Siles, Anthony Cutrupi, Melina Ellis, Jakob Kuriakose, Sharon La Fontaine, Di Mao, Motonari Uesugi, Reinaldo I. Takata, Carlos E. Speck-Martins, Garth Nicholson, Marina L. Kennerson
      Disease Models & Mechanisms 2020 13: dmm041541 doi: 10.1242/dmm.041541 Published 13 January 2020

L

  1. La Fontaine, Sharon

    1. RESEARCH ARTICLE
      Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs
      Gonzalo Perez-Siles, Anthony Cutrupi, Melina Ellis, Jakob Kuriakose, Sharon La Fontaine, Di Mao, Motonari Uesugi, Reinaldo I. Takata, Carlos E. Speck-Martins, Garth Nicholson, Marina L. Kennerson
      Disease Models & Mechanisms 2020 13: dmm041541 doi: 10.1242/dmm.041541 Published 13 January 2020
  2. Lazar, Monize

    1. RESEARCH ARTICLE
      Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy
      Stephanie A. Fernandes, Camila F. Almeida, Lucas S. Souza, Monize Lazar, Paula Onofre-Oliveira, Guilherme L. Yamamoto, Letícia Nogueira, Letícia Y. Tasaki, Rafaela R. Cardoso, Rita C. M. Pavanello, Helga C. A. Silva, Merari F. R. Ferrari, Anne Bigot, Vincent Mouly, Mariz Vainzof
      Disease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020
  3. Lee, Joanne

    1. REVIEW
      Improving translatability of preclinical studies for neuromuscular disorders: lessons from the TREAT-NMD Advisory Committee for Therapeutics (TACT)
      Raffaella Willmann, Joanne Lee, Cathy Turner, Kanneboyina Nagaraju, Annemieke Aartsma-Rus, Dominic J. Wells, Kathryn R. Wagner, Cristina Csimma, Volker Straub, Miranda D. Grounds, Annamaria De Luca
      Disease Models & Mechanisms 2020 13: dmm042903 doi: 10.1242/dmm.042903 Published 7 February 2020
  4. Levinska, Bozena

    1. RESEARCH ARTICLE
      Longitudinal study revealing motor, cognitive and behavioral decline in a transgenic minipig model of Huntington's disease
      Monika Baxa, Bozena Levinska, Monika Skrivankova, Matous Pokorny, Jana Juhasova, Jiri Klima, Jiri Klempir, Jan Motlı́k, Stefan Juhas, Zdenka Ellederova
      Disease Models & Mechanisms 2020 13: dmm041293 doi: 10.1242/dmm.041293 Published 12 December 2019
  5. Levinská, Božena

    1. RESEARCH ARTICLE
      Transgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegeneration
      Taras Ardan, Monika Baxa, Božena Levinská, Miroslava Sedláčková, The Duong Nguyen, Jiří Klíma, Štefan Juhás, Jana Juhásová, Petra Šmatlíková, Petra Vochozková, Jan Motlík, Zdenka Ellederová
      Disease Models & Mechanisms 2020 13: dmm041319 doi: 10.1242/dmm.041319 Published 12 December 2019
  6. Lin, Tao

    1. RESEARCH ARTICLE
      In vivo cerebellar circuit function is disrupted in an mdx mouse model of Duchenne muscular dystrophy
      Trace L. Stay, Lauren N. Miterko, Marife Arancillo, Tao Lin, Roy V. Sillitoe
      Disease Models & Mechanisms 2020 13: dmm040840 doi: 10.1242/dmm.040840 Published 9 December 2019
  7. Lloyd, Erin M.

    1. REVIEW
      Mouse models for muscular dystrophies: an overview
      Maaike van Putten, Erin M. Lloyd, Jessica C. de Greef, Vered Raz, Raffaella Willmann, Miranda D. Grounds
      Disease Models & Mechanisms 2020 13: dmm043562 doi: 10.1242/dmm.043562 Published 21 February 2020

M

  1. Mao, Di

    1. RESEARCH ARTICLE
      Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs
      Gonzalo Perez-Siles, Anthony Cutrupi, Melina Ellis, Jakob Kuriakose, Sharon La Fontaine, Di Mao, Motonari Uesugi, Reinaldo I. Takata, Carlos E. Speck-Martins, Garth Nicholson, Marina L. Kennerson
      Disease Models & Mechanisms 2020 13: dmm041541 doi: 10.1242/dmm.041541 Published 13 January 2020
  2. McDermott, Andrew J.

    1. RESEARCH ARTICLE
      Temporal evolution of the microbiome, immune system and epigenome with disease progression in ALS mice
      Claudia Figueroa-Romero, Kai Guo, Benjamin J. Murdock, Ximena Paez-Colasante, Christine M. Bassis, Kristen A. Mikhail, Kristen D. Raue, Matthew C. Evans, Ghislaine F. Taubman, Andrew J. McDermott, Phillipe D. O'Brien, Masha G. Savelieff, Junguk Hur, Eva L. Feldman
      Disease Models & Mechanisms 2020 13: dmm041947 doi: 10.1242/dmm.041947 Published 15 November 2019
  3. McNally, Elizabeth

    1. A MODEL FOR LIFE
      At the heart of genetic disease: an interview with Elizabeth McNally
      Elizabeth McNally
      Disease Models & Mechanisms 2020 13: dmm041566 doi: 10.1242/dmm.041566 Published 18 September 2019
  4. McNally, Elizabeth M.

    1. RESEARCH ARTICLE
      A gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skipping
      Alexis R. Demonbreun, Eugene J. Wyatt, Katherine S. Fallon, Claire C. Oosterbaan, Patrick G. Page, Michele Hadhazy, Mattia Quattrocelli, David Y. Barefield, Elizabeth M. McNally
      Disease Models & Mechanisms 2020 13: dmm040832 doi: 10.1242/dmm.040832 Published 4 November 2019
  5. Mendelson, Faye E.

    1. RESEARCH ARTICLE
      Integrated lipidomic and transcriptomic analyses identify altered nerve triglycerides in mouse models of prediabetes and type 2 diabetes
      Phillipe D. O'Brien, Kai Guo, Stephanie A. Eid, Amy E. Rumora, Lucy M. Hinder, John M. Hayes, Faye E. Mendelson, Junguk Hur, Eva L. Feldman
      Disease Models & Mechanisms 2020 13: dmm042101 doi: 10.1242/dmm.042101 Published 24 January 2020
  6. Mikhail, Kristen A.

    1. RESEARCH ARTICLE
      Temporal evolution of the microbiome, immune system and epigenome with disease progression in ALS mice
      Claudia Figueroa-Romero, Kai Guo, Benjamin J. Murdock, Ximena Paez-Colasante, Christine M. Bassis, Kristen A. Mikhail, Kristen D. Raue, Matthew C. Evans, Ghislaine F. Taubman, Andrew J. McDermott, Phillipe D. O'Brien, Masha G. Savelieff, Junguk Hur, Eva L. Feldman
      Disease Models & Mechanisms 2020 13: dmm041947 doi: 10.1242/dmm.041947 Published 15 November 2019
  7. Miterko, Lauren N.

    1. RESEARCH ARTICLE
      In vivo cerebellar circuit function is disrupted in an mdx mouse model of Duchenne muscular dystrophy
      Trace L. Stay, Lauren N. Miterko, Marife Arancillo, Tao Lin, Roy V. Sillitoe
      Disease Models & Mechanisms 2020 13: dmm040840 doi: 10.1242/dmm.040840 Published 9 December 2019
  8. Morgan, Jennifer

    1. AT A GLANCE
      Skeletal muscle in health and disease
      Jennifer Morgan, Terence Partridge
      Disease Models & Mechanisms 2020 13: dmm042192 doi: 10.1242/dmm.042192 Published 6 February 2020
  9. Motlík, Jan

    1. RESEARCH ARTICLE
      Transgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegeneration
      Taras Ardan, Monika Baxa, Božena Levinská, Miroslava Sedláčková, The Duong Nguyen, Jiří Klíma, Štefan Juhás, Jana Juhásová, Petra Šmatlíková, Petra Vochozková, Jan Motlík, Zdenka Ellederová
      Disease Models & Mechanisms 2020 13: dmm041319 doi: 10.1242/dmm.041319 Published 12 December 2019
  10. Motlı́k, Jan

    1. RESEARCH ARTICLE
      Longitudinal study revealing motor, cognitive and behavioral decline in a transgenic minipig model of Huntington's disease
      Monika Baxa, Bozena Levinska, Monika Skrivankova, Matous Pokorny, Jana Juhasova, Jiri Klima, Jiri Klempir, Jan Motlı́k, Stefan Juhas, Zdenka Ellederova
      Disease Models & Mechanisms 2020 13: dmm041293 doi: 10.1242/dmm.041293 Published 12 December 2019
  11. Mouly, Vincent

    1. RESEARCH ARTICLE
      Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy
      Stephanie A. Fernandes, Camila F. Almeida, Lucas S. Souza, Monize Lazar, Paula Onofre-Oliveira, Guilherme L. Yamamoto, Letícia Nogueira, Letícia Y. Tasaki, Rafaela R. Cardoso, Rita C. M. Pavanello, Helga C. A. Silva, Merari F. R. Ferrari, Anne Bigot, Vincent Mouly, Mariz Vainzof
      Disease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020
  12. Murdock, Benjamin J.

    1. RESEARCH ARTICLE
      Temporal evolution of the microbiome, immune system and epigenome with disease progression in ALS mice
      Claudia Figueroa-Romero, Kai Guo, Benjamin J. Murdock, Ximena Paez-Colasante, Christine M. Bassis, Kristen A. Mikhail, Kristen D. Raue, Matthew C. Evans, Ghislaine F. Taubman, Andrew J. McDermott, Phillipe D. O'Brien, Masha G. Savelieff, Junguk Hur, Eva L. Feldman
      Disease Models & Mechanisms 2020 13: dmm041947 doi: 10.1242/dmm.041947 Published 15 November 2019

N

  1. Nagaraju, Kanneboyina

    1. REVIEW
      Improving translatability of preclinical studies for neuromuscular disorders: lessons from the TREAT-NMD Advisory Committee for Therapeutics (TACT)
      Raffaella Willmann, Joanne Lee, Cathy Turner, Kanneboyina Nagaraju, Annemieke Aartsma-Rus, Dominic J. Wells, Kathryn R. Wagner, Cristina Csimma, Volker Straub, Miranda D. Grounds, Annamaria De Luca
      Disease Models & Mechanisms 2020 13: dmm042903 doi: 10.1242/dmm.042903 Published 7 February 2020
  2. Nguyen, The Duong

    1. RESEARCH ARTICLE
      Transgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegeneration
      Taras Ardan, Monika Baxa, Božena Levinská, Miroslava Sedláčková, The Duong Nguyen, Jiří Klíma, Štefan Juhás, Jana Juhásová, Petra Šmatlíková, Petra Vochozková, Jan Motlík, Zdenka Ellederová
      Disease Models & Mechanisms 2020 13: dmm041319 doi: 10.1242/dmm.041319 Published 12 December 2019
  3. Nicholson, Garth

    1. RESEARCH ARTICLE
      Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs
      Gonzalo Perez-Siles, Anthony Cutrupi, Melina Ellis, Jakob Kuriakose, Sharon La Fontaine, Di Mao, Motonari Uesugi, Reinaldo I. Takata, Carlos E. Speck-Martins, Garth Nicholson, Marina L. Kennerson
      Disease Models & Mechanisms 2020 13: dmm041541 doi: 10.1242/dmm.041541 Published 13 January 2020
  4. Nogueira, Letícia

    1. RESEARCH ARTICLE
      Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy
      Stephanie A. Fernandes, Camila F. Almeida, Lucas S. Souza, Monize Lazar, Paula Onofre-Oliveira, Guilherme L. Yamamoto, Letícia Nogueira, Letícia Y. Tasaki, Rafaela R. Cardoso, Rita C. M. Pavanello, Helga C. A. Silva, Merari F. R. Ferrari, Anne Bigot, Vincent Mouly, Mariz Vainzof
      Disease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020

O

  1. O'Brien, Phillipe D.

    1. RESEARCH ARTICLE
      Temporal evolution of the microbiome, immune system and epigenome with disease progression in ALS mice
      Claudia Figueroa-Romero, Kai Guo, Benjamin J. Murdock, Ximena Paez-Colasante, Christine M. Bassis, Kristen A. Mikhail, Kristen D. Raue, Matthew C. Evans, Ghislaine F. Taubman, Andrew J. McDermott, Phillipe D. O'Brien, Masha G. Savelieff, Junguk Hur, Eva L. Feldman
      Disease Models & Mechanisms 2020 13: dmm041947 doi: 10.1242/dmm.041947 Published 15 November 2019
    2. RESEARCH ARTICLE
      Integrated lipidomic and transcriptomic analyses identify altered nerve triglycerides in mouse models of prediabetes and type 2 diabetes
      Phillipe D. O'Brien, Kai Guo, Stephanie A. Eid, Amy E. Rumora, Lucy M. Hinder, John M. Hayes, Faye E. Mendelson, Junguk Hur, Eva L. Feldman
      Disease Models & Mechanisms 2020 13: dmm042101 doi: 10.1242/dmm.042101 Published 24 January 2020
  2. Onofre-Oliveira, Paula

    1. RESEARCH ARTICLE
      Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy
      Stephanie A. Fernandes, Camila F. Almeida, Lucas S. Souza, Monize Lazar, Paula Onofre-Oliveira, Guilherme L. Yamamoto, Letícia Nogueira, Letícia Y. Tasaki, Rafaela R. Cardoso, Rita C. M. Pavanello, Helga C. A. Silva, Merari F. R. Ferrari, Anne Bigot, Vincent Mouly, Mariz Vainzof
      Disease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020
  3. Oosterbaan, Claire C.

    1. RESEARCH ARTICLE
      A gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skipping
      Alexis R. Demonbreun, Eugene J. Wyatt, Katherine S. Fallon, Claire C. Oosterbaan, Patrick G. Page, Michele Hadhazy, Mattia Quattrocelli, David Y. Barefield, Elizabeth M. McNally
      Disease Models & Mechanisms 2020 13: dmm040832 doi: 10.1242/dmm.040832 Published 4 November 2019

P

  1. Paez-Colasante, Ximena

    1. RESEARCH ARTICLE
      Temporal evolution of the microbiome, immune system and epigenome with disease progression in ALS mice
      Claudia Figueroa-Romero, Kai Guo, Benjamin J. Murdock, Ximena Paez-Colasante, Christine M. Bassis, Kristen A. Mikhail, Kristen D. Raue, Matthew C. Evans, Ghislaine F. Taubman, Andrew J. McDermott, Phillipe D. O'Brien, Masha G. Savelieff, Junguk Hur, Eva L. Feldman
      Disease Models & Mechanisms 2020 13: dmm041947 doi: 10.1242/dmm.041947 Published 15 November 2019
  2. Page, Patrick G.

    1. RESEARCH ARTICLE
      A gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skipping
      Alexis R. Demonbreun, Eugene J. Wyatt, Katherine S. Fallon, Claire C. Oosterbaan, Patrick G. Page, Michele Hadhazy, Mattia Quattrocelli, David Y. Barefield, Elizabeth M. McNally
      Disease Models & Mechanisms 2020 13: dmm040832 doi: 10.1242/dmm.040832 Published 4 November 2019
  3. Partridge, Terence

    1. AT A GLANCE
      Skeletal muscle in health and disease
      Jennifer Morgan, Terence Partridge
      Disease Models & Mechanisms 2020 13: dmm042192 doi: 10.1242/dmm.042192 Published 6 February 2020
  4. Pavanello, Rita C. M.

    1. RESEARCH ARTICLE
      Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy
      Stephanie A. Fernandes, Camila F. Almeida, Lucas S. Souza, Monize Lazar, Paula Onofre-Oliveira, Guilherme L. Yamamoto, Letícia Nogueira, Letícia Y. Tasaki, Rafaela R. Cardoso, Rita C. M. Pavanello, Helga C. A. Silva, Merari F. R. Ferrari, Anne Bigot, Vincent Mouly, Mariz Vainzof
      Disease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020
  5. Perez-Siles, Gonzalo

    1. RESEARCH ARTICLE
      Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs
      Gonzalo Perez-Siles, Anthony Cutrupi, Melina Ellis, Jakob Kuriakose, Sharon La Fontaine, Di Mao, Motonari Uesugi, Reinaldo I. Takata, Carlos E. Speck-Martins, Garth Nicholson, Marina L. Kennerson
      Disease Models & Mechanisms 2020 13: dmm041541 doi: 10.1242/dmm.041541 Published 13 January 2020
  6. Pirali, Tracey

    1. RESEARCH ARTICLE
      A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy
      Celia Cordero-Sanchez, Beatrice Riva, Simone Reano, Nausicaa Clemente, Ivan Zaggia, Federico A. Ruffinatti, Alberto Potenzieri, Tracey Pirali, Salvatore Raffa, Sabina Sangaletti, Mario P. Colombo, Alessandra Bertoni, Matteo Garibaldi, Nicoletta Filigheddu, Armando A. Genazzani
      Disease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019
  7. Pokorny, Matous

    1. RESEARCH ARTICLE
      Longitudinal study revealing motor, cognitive and behavioral decline in a transgenic minipig model of Huntington's disease
      Monika Baxa, Bozena Levinska, Monika Skrivankova, Matous Pokorny, Jana Juhasova, Jiri Klima, Jiri Klempir, Jan Motlı́k, Stefan Juhas, Zdenka Ellederova
      Disease Models & Mechanisms 2020 13: dmm041293 doi: 10.1242/dmm.041293 Published 12 December 2019
  8. Potenzieri, Alberto

    1. RESEARCH ARTICLE
      A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy
      Celia Cordero-Sanchez, Beatrice Riva, Simone Reano, Nausicaa Clemente, Ivan Zaggia, Federico A. Ruffinatti, Alberto Potenzieri, Tracey Pirali, Salvatore Raffa, Sabina Sangaletti, Mario P. Colombo, Alessandra Bertoni, Matteo Garibaldi, Nicoletta Filigheddu, Armando A. Genazzani
      Disease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019

Q

  1. Quattrocelli, Mattia

    1. RESEARCH ARTICLE
      A gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skipping
      Alexis R. Demonbreun, Eugene J. Wyatt, Katherine S. Fallon, Claire C. Oosterbaan, Patrick G. Page, Michele Hadhazy, Mattia Quattrocelli, David Y. Barefield, Elizabeth M. McNally
      Disease Models & Mechanisms 2020 13: dmm040832 doi: 10.1242/dmm.040832 Published 4 November 2019

R

  1. Radley-Crabb, Hannah G.

    1. REVIEW
      Biomarkers for Duchenne muscular dystrophy: myonecrosis, inflammation and oxidative stress
      Miranda D. Grounds, Jessica R. Terrill, Basma A. Al-Mshhdani, Marisa N. Duong, Hannah G. Radley-Crabb, Peter G. Arthur
      Disease Models & Mechanisms 2020 13: dmm043638 doi: 10.1242/dmm.043638 Published 2 March 2020
  2. Raffa, Salvatore

    1. RESEARCH ARTICLE
      A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy
      Celia Cordero-Sanchez, Beatrice Riva, Simone Reano, Nausicaa Clemente, Ivan Zaggia, Federico A. Ruffinatti, Alberto Potenzieri, Tracey Pirali, Salvatore Raffa, Sabina Sangaletti, Mario P. Colombo, Alessandra Bertoni, Matteo Garibaldi, Nicoletta Filigheddu, Armando A. Genazzani
      Disease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019
  3. Raue, Kristen D.

    1. RESEARCH ARTICLE
      Temporal evolution of the microbiome, immune system and epigenome with disease progression in ALS mice
      Claudia Figueroa-Romero, Kai Guo, Benjamin J. Murdock, Ximena Paez-Colasante, Christine M. Bassis, Kristen A. Mikhail, Kristen D. Raue, Matthew C. Evans, Ghislaine F. Taubman, Andrew J. McDermott, Phillipe D. O'Brien, Masha G. Savelieff, Junguk Hur, Eva L. Feldman
      Disease Models & Mechanisms 2020 13: dmm041947 doi: 10.1242/dmm.041947 Published 15 November 2019
  4. Raz, Vered

    1. REVIEW
      Mouse models for muscular dystrophies: an overview
      Maaike van Putten, Erin M. Lloyd, Jessica C. de Greef, Vered Raz, Raffaella Willmann, Miranda D. Grounds
      Disease Models & Mechanisms 2020 13: dmm043562 doi: 10.1242/dmm.043562 Published 21 February 2020
  5. Reano, Simone

    1. RESEARCH ARTICLE
      A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy
      Celia Cordero-Sanchez, Beatrice Riva, Simone Reano, Nausicaa Clemente, Ivan Zaggia, Federico A. Ruffinatti, Alberto Potenzieri, Tracey Pirali, Salvatore Raffa, Sabina Sangaletti, Mario P. Colombo, Alessandra Bertoni, Matteo Garibaldi, Nicoletta Filigheddu, Armando A. Genazzani
      Disease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019
  6. Ritchie, Erin

    1. RESEARCH ARTICLE
      Interactions among ryanodine receptor isotypes contribute to muscle fiber type development and function
      Alexis A. Chagovetz, Dana Klatt Shaw, Erin Ritchie, Kazuyuki Hoshijima, David J. Grunwald
      Disease Models & Mechanisms 2020 13: dmm038844 doi: 10.1242/dmm.038844 Published 18 September 2019
  7. Riva, Beatrice

    1. RESEARCH ARTICLE
      A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy
      Celia Cordero-Sanchez, Beatrice Riva, Simone Reano, Nausicaa Clemente, Ivan Zaggia, Federico A. Ruffinatti, Alberto Potenzieri, Tracey Pirali, Salvatore Raffa, Sabina Sangaletti, Mario P. Colombo, Alessandra Bertoni, Matteo Garibaldi, Nicoletta Filigheddu, Armando A. Genazzani
      Disease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019
  8. Ruffinatti, Federico A.

    1. RESEARCH ARTICLE
      A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy
      Celia Cordero-Sanchez, Beatrice Riva, Simone Reano, Nausicaa Clemente, Ivan Zaggia, Federico A. Ruffinatti, Alberto Potenzieri, Tracey Pirali, Salvatore Raffa, Sabina Sangaletti, Mario P. Colombo, Alessandra Bertoni, Matteo Garibaldi, Nicoletta Filigheddu, Armando A. Genazzani
      Disease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019
  9. Rumora, Amy E.

    1. RESEARCH ARTICLE
      Integrated lipidomic and transcriptomic analyses identify altered nerve triglycerides in mouse models of prediabetes and type 2 diabetes
      Phillipe D. O'Brien, Kai Guo, Stephanie A. Eid, Amy E. Rumora, Lucy M. Hinder, John M. Hayes, Faye E. Mendelson, Junguk Hur, Eva L. Feldman
      Disease Models & Mechanisms 2020 13: dmm042101 doi: 10.1242/dmm.042101 Published 24 January 2020

S

  1. Sangaletti, Sabina

    1. RESEARCH ARTICLE
      A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy
      Celia Cordero-Sanchez, Beatrice Riva, Simone Reano, Nausicaa Clemente, Ivan Zaggia, Federico A. Ruffinatti, Alberto Potenzieri, Tracey Pirali, Salvatore Raffa, Sabina Sangaletti, Mario P. Colombo, Alessandra Bertoni, Matteo Garibaldi, Nicoletta Filigheddu, Armando A. Genazzani
      Disease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019
  2. Savelieff, Masha G.

    1. RESEARCH ARTICLE
      Temporal evolution of the microbiome, immune system and epigenome with disease progression in ALS mice
      Claudia Figueroa-Romero, Kai Guo, Benjamin J. Murdock, Ximena Paez-Colasante, Christine M. Bassis, Kristen A. Mikhail, Kristen D. Raue, Matthew C. Evans, Ghislaine F. Taubman, Andrew J. McDermott, Phillipe D. O'Brien, Masha G. Savelieff, Junguk Hur, Eva L. Feldman
      Disease Models & Mechanisms 2020 13: dmm041947 doi: 10.1242/dmm.041947 Published 15 November 2019
  3. Sedláčková, Miroslava

    1. RESEARCH ARTICLE
      Transgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegeneration
      Taras Ardan, Monika Baxa, Božena Levinská, Miroslava Sedláčková, The Duong Nguyen, Jiří Klíma, Štefan Juhás, Jana Juhásová, Petra Šmatlíková, Petra Vochozková, Jan Motlík, Zdenka Ellederová
      Disease Models & Mechanisms 2020 13: dmm041319 doi: 10.1242/dmm.041319 Published 12 December 2019
  4. Sillitoe, Roy V.

    1. RESEARCH ARTICLE
      In vivo cerebellar circuit function is disrupted in an mdx mouse model of Duchenne muscular dystrophy
      Trace L. Stay, Lauren N. Miterko, Marife Arancillo, Tao Lin, Roy V. Sillitoe
      Disease Models & Mechanisms 2020 13: dmm040840 doi: 10.1242/dmm.040840 Published 9 December 2019
  5. Silva, Helga C. A.

    1. RESEARCH ARTICLE
      Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy
      Stephanie A. Fernandes, Camila F. Almeida, Lucas S. Souza, Monize Lazar, Paula Onofre-Oliveira, Guilherme L. Yamamoto, Letícia Nogueira, Letícia Y. Tasaki, Rafaela R. Cardoso, Rita C. M. Pavanello, Helga C. A. Silva, Merari F. R. Ferrari, Anne Bigot, Vincent Mouly, Mariz Vainzof
      Disease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020
  6. Skrivankova, Monika

    1. RESEARCH ARTICLE
      Longitudinal study revealing motor, cognitive and behavioral decline in a transgenic minipig model of Huntington's disease
      Monika Baxa, Bozena Levinska, Monika Skrivankova, Matous Pokorny, Jana Juhasova, Jiri Klima, Jiri Klempir, Jan Motlı́k, Stefan Juhas, Zdenka Ellederova
      Disease Models & Mechanisms 2020 13: dmm041293 doi: 10.1242/dmm.041293 Published 12 December 2019
  7. Šmatlíková, Petra

    1. RESEARCH ARTICLE
      Transgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegeneration
      Taras Ardan, Monika Baxa, Božena Levinská, Miroslava Sedláčková, The Duong Nguyen, Jiří Klíma, Štefan Juhás, Jana Juhásová, Petra Šmatlíková, Petra Vochozková, Jan Motlík, Zdenka Ellederová
      Disease Models & Mechanisms 2020 13: dmm041319 doi: 10.1242/dmm.041319 Published 12 December 2019
  8. Souza, Lucas S.

    1. RESEARCH ARTICLE
      Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy
      Stephanie A. Fernandes, Camila F. Almeida, Lucas S. Souza, Monize Lazar, Paula Onofre-Oliveira, Guilherme L. Yamamoto, Letícia Nogueira, Letícia Y. Tasaki, Rafaela R. Cardoso, Rita C. M. Pavanello, Helga C. A. Silva, Merari F. R. Ferrari, Anne Bigot, Vincent Mouly, Mariz Vainzof
      Disease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020
  9. Speck-Martins, Carlos E.

    1. RESEARCH ARTICLE
      Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs
      Gonzalo Perez-Siles, Anthony Cutrupi, Melina Ellis, Jakob Kuriakose, Sharon La Fontaine, Di Mao, Motonari Uesugi, Reinaldo I. Takata, Carlos E. Speck-Martins, Garth Nicholson, Marina L. Kennerson
      Disease Models & Mechanisms 2020 13: dmm041541 doi: 10.1242/dmm.041541 Published 13 January 2020
  10. Stay, Trace L.

    1. RESEARCH ARTICLE
      In vivo cerebellar circuit function is disrupted in an mdx mouse model of Duchenne muscular dystrophy
      Trace L. Stay, Lauren N. Miterko, Marife Arancillo, Tao Lin, Roy V. Sillitoe
      Disease Models & Mechanisms 2020 13: dmm040840 doi: 10.1242/dmm.040840 Published 9 December 2019
  11. Straub, Volker

    1. RESEARCH ARTICLE
      A comparison of the bone and growth phenotype of mdx, mdx:Cmah−/− and mdx:Utrn+/− murine models with the C57BL/10 wild-type mouse
      Claire L. Wood, Karla J. Suchacki, Rob van ’t Hof, Will P. Cawthorn, Scott Dillon, Volker Straub, Sze Choong Wong, Syed F. Ahmed, Colin Farquharson
      Disease Models & Mechanisms 2020 13: dmm040659 doi: 10.1242/dmm.040659 Published 10 January 2020
    2. REVIEW
      Improving translatability of preclinical studies for neuromuscular disorders: lessons from the TREAT-NMD Advisory Committee for Therapeutics (TACT)
      Raffaella Willmann, Joanne Lee, Cathy Turner, Kanneboyina Nagaraju, Annemieke Aartsma-Rus, Dominic J. Wells, Kathryn R. Wagner, Cristina Csimma, Volker Straub, Miranda D. Grounds, Annamaria De Luca
      Disease Models & Mechanisms 2020 13: dmm042903 doi: 10.1242/dmm.042903 Published 7 February 2020
  12. Suchacki, Karla J.

    1. RESEARCH ARTICLE
      A comparison of the bone and growth phenotype of mdx, mdx:Cmah−/− and mdx:Utrn+/− murine models with the C57BL/10 wild-type mouse
      Claire L. Wood, Karla J. Suchacki, Rob van ’t Hof, Will P. Cawthorn, Scott Dillon, Volker Straub, Sze Choong Wong, Syed F. Ahmed, Colin Farquharson
      Disease Models & Mechanisms 2020 13: dmm040659 doi: 10.1242/dmm.040659 Published 10 January 2020

T

  1. Takata, Reinaldo I.

    1. RESEARCH ARTICLE
      Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs
      Gonzalo Perez-Siles, Anthony Cutrupi, Melina Ellis, Jakob Kuriakose, Sharon La Fontaine, Di Mao, Motonari Uesugi, Reinaldo I. Takata, Carlos E. Speck-Martins, Garth Nicholson, Marina L. Kennerson
      Disease Models & Mechanisms 2020 13: dmm041541 doi: 10.1242/dmm.041541 Published 13 January 2020
  2. Tasaki, Letícia Y.

    1. RESEARCH ARTICLE
      Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy
      Stephanie A. Fernandes, Camila F. Almeida, Lucas S. Souza, Monize Lazar, Paula Onofre-Oliveira, Guilherme L. Yamamoto, Letícia Nogueira, Letícia Y. Tasaki, Rafaela R. Cardoso, Rita C. M. Pavanello, Helga C. A. Silva, Merari F. R. Ferrari, Anne Bigot, Vincent Mouly, Mariz Vainzof
      Disease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020
  3. Taubman, Ghislaine F.

    1. RESEARCH ARTICLE
      Temporal evolution of the microbiome, immune system and epigenome with disease progression in ALS mice
      Claudia Figueroa-Romero, Kai Guo, Benjamin J. Murdock, Ximena Paez-Colasante, Christine M. Bassis, Kristen A. Mikhail, Kristen D. Raue, Matthew C. Evans, Ghislaine F. Taubman, Andrew J. McDermott, Phillipe D. O'Brien, Masha G. Savelieff, Junguk Hur, Eva L. Feldman
      Disease Models & Mechanisms 2020 13: dmm041947 doi: 10.1242/dmm.041947 Published 15 November 2019
  4. Terrill, Jessica R.

    1. REVIEW
      Biomarkers for Duchenne muscular dystrophy: myonecrosis, inflammation and oxidative stress
      Miranda D. Grounds, Jessica R. Terrill, Basma A. Al-Mshhdani, Marisa N. Duong, Hannah G. Radley-Crabb, Peter G. Arthur
      Disease Models & Mechanisms 2020 13: dmm043638 doi: 10.1242/dmm.043638 Published 2 March 2020
  5. Thielemans, Leen

    1. SPECIAL ARTICLE
      Translational medicine in neuromuscular disorders: from academia to industry
      Belinda S. Cowling, Leen Thielemans
      Disease Models & Mechanisms 2020 13: dmm041434 doi: 10.1242/dmm.041434 Published 24 October 2019
  6. Turner, Cathy

    1. REVIEW
      Improving translatability of preclinical studies for neuromuscular disorders: lessons from the TREAT-NMD Advisory Committee for Therapeutics (TACT)
      Raffaella Willmann, Joanne Lee, Cathy Turner, Kanneboyina Nagaraju, Annemieke Aartsma-Rus, Dominic J. Wells, Kathryn R. Wagner, Cristina Csimma, Volker Straub, Miranda D. Grounds, Annamaria De Luca
      Disease Models & Mechanisms 2020 13: dmm042903 doi: 10.1242/dmm.042903 Published 7 February 2020

U

  1. Uesugi, Motonari

    1. RESEARCH ARTICLE
      Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs
      Gonzalo Perez-Siles, Anthony Cutrupi, Melina Ellis, Jakob Kuriakose, Sharon La Fontaine, Di Mao, Motonari Uesugi, Reinaldo I. Takata, Carlos E. Speck-Martins, Garth Nicholson, Marina L. Kennerson
      Disease Models & Mechanisms 2020 13: dmm041541 doi: 10.1242/dmm.041541 Published 13 January 2020

V

  1. Vainzof, Mariz

    1. RESEARCH ARTICLE
      Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy
      Stephanie A. Fernandes, Camila F. Almeida, Lucas S. Souza, Monize Lazar, Paula Onofre-Oliveira, Guilherme L. Yamamoto, Letícia Nogueira, Letícia Y. Tasaki, Rafaela R. Cardoso, Rita C. M. Pavanello, Helga C. A. Silva, Merari F. R. Ferrari, Anne Bigot, Vincent Mouly, Mariz Vainzof
      Disease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020
  2. van ’t Hof, Rob

    1. RESEARCH ARTICLE
      A comparison of the bone and growth phenotype of mdx, mdx:Cmah−/− and mdx:Utrn+/− murine models with the C57BL/10 wild-type mouse
      Claire L. Wood, Karla J. Suchacki, Rob van ’t Hof, Will P. Cawthorn, Scott Dillon, Volker Straub, Sze Choong Wong, Syed F. Ahmed, Colin Farquharson
      Disease Models & Mechanisms 2020 13: dmm040659 doi: 10.1242/dmm.040659 Published 10 January 2020
  3. van Putten, Maaike

    1. SPECIAL ARTICLE
      The use of genetically humanized animal models for personalized medicine approaches
      Annemieke Aartsma-Rus, Maaike van Putten
      Disease Models & Mechanisms 2020 13: dmm041673 doi: 10.1242/dmm.041673 Published 1 October 2019
    2. REVIEW
      Mouse models for muscular dystrophies: an overview
      Maaike van Putten, Erin M. Lloyd, Jessica C. de Greef, Vered Raz, Raffaella Willmann, Miranda D. Grounds
      Disease Models & Mechanisms 2020 13: dmm043562 doi: 10.1242/dmm.043562 Published 21 February 2020
    3. EDITORIAL
      Moving neuromuscular disorders research forward: from novel models to clinical studies
      Maaike van Putten, Julija Hmeljak, Annemieke Aartsma-Rus, James J. Dowling
      Disease Models & Mechanisms 2020 13: dmm044370 doi: 10.1242/dmm.044370 Published 25 February 2020
  4. Vochozková, Petra

    1. RESEARCH ARTICLE
      Transgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegeneration
      Taras Ardan, Monika Baxa, Božena Levinská, Miroslava Sedláčková, The Duong Nguyen, Jiří Klíma, Štefan Juhás, Jana Juhásová, Petra Šmatlíková, Petra Vochozková, Jan Motlík, Zdenka Ellederová
      Disease Models & Mechanisms 2020 13: dmm041319 doi: 10.1242/dmm.041319 Published 12 December 2019

W

  1. Wagner, Kathryn R.

    1. REVIEW
      Improving translatability of preclinical studies for neuromuscular disorders: lessons from the TREAT-NMD Advisory Committee for Therapeutics (TACT)
      Raffaella Willmann, Joanne Lee, Cathy Turner, Kanneboyina Nagaraju, Annemieke Aartsma-Rus, Dominic J. Wells, Kathryn R. Wagner, Cristina Csimma, Volker Straub, Miranda D. Grounds, Annamaria De Luca
      Disease Models & Mechanisms 2020 13: dmm042903 doi: 10.1242/dmm.042903 Published 7 February 2020
  2. Wells, Dominic J.

    1. REVIEW
      Improving translatability of preclinical studies for neuromuscular disorders: lessons from the TREAT-NMD Advisory Committee for Therapeutics (TACT)
      Raffaella Willmann, Joanne Lee, Cathy Turner, Kanneboyina Nagaraju, Annemieke Aartsma-Rus, Dominic J. Wells, Kathryn R. Wagner, Cristina Csimma, Volker Straub, Miranda D. Grounds, Annamaria De Luca
      Disease Models & Mechanisms 2020 13: dmm042903 doi: 10.1242/dmm.042903 Published 7 February 2020
  3. Willmann, Raffaella

    1. REVIEW
      Improving translatability of preclinical studies for neuromuscular disorders: lessons from the TREAT-NMD Advisory Committee for Therapeutics (TACT)
      Raffaella Willmann, Joanne Lee, Cathy Turner, Kanneboyina Nagaraju, Annemieke Aartsma-Rus, Dominic J. Wells, Kathryn R. Wagner, Cristina Csimma, Volker Straub, Miranda D. Grounds, Annamaria De Luca
      Disease Models & Mechanisms 2020 13: dmm042903 doi: 10.1242/dmm.042903 Published 7 February 2020
    2. REVIEW
      Mouse models for muscular dystrophies: an overview
      Maaike van Putten, Erin M. Lloyd, Jessica C. de Greef, Vered Raz, Raffaella Willmann, Miranda D. Grounds
      Disease Models & Mechanisms 2020 13: dmm043562 doi: 10.1242/dmm.043562 Published 21 February 2020
  4. Wong, Sze Choong

    1. RESEARCH ARTICLE
      A comparison of the bone and growth phenotype of mdx, mdx:Cmah−/− and mdx:Utrn+/− murine models with the C57BL/10 wild-type mouse
      Claire L. Wood, Karla J. Suchacki, Rob van ’t Hof, Will P. Cawthorn, Scott Dillon, Volker Straub, Sze Choong Wong, Syed F. Ahmed, Colin Farquharson
      Disease Models & Mechanisms 2020 13: dmm040659 doi: 10.1242/dmm.040659 Published 10 January 2020
  5. Wood, Claire L.

    1. RESEARCH ARTICLE
      A comparison of the bone and growth phenotype of mdx, mdx:Cmah−/− and mdx:Utrn+/− murine models with the C57BL/10 wild-type mouse
      Claire L. Wood, Karla J. Suchacki, Rob van ’t Hof, Will P. Cawthorn, Scott Dillon, Volker Straub, Sze Choong Wong, Syed F. Ahmed, Colin Farquharson
      Disease Models & Mechanisms 2020 13: dmm040659 doi: 10.1242/dmm.040659 Published 10 January 2020
  6. Wyatt, Eugene J.

    1. RESEARCH ARTICLE
      A gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skipping
      Alexis R. Demonbreun, Eugene J. Wyatt, Katherine S. Fallon, Claire C. Oosterbaan, Patrick G. Page, Michele Hadhazy, Mattia Quattrocelli, David Y. Barefield, Elizabeth M. McNally
      Disease Models & Mechanisms 2020 13: dmm040832 doi: 10.1242/dmm.040832 Published 4 November 2019

Y

  1. Yamamoto, Guilherme L.

    1. RESEARCH ARTICLE
      Altered in vitro muscle differentiation in X-linked myopathy with excessive autophagy
      Stephanie A. Fernandes, Camila F. Almeida, Lucas S. Souza, Monize Lazar, Paula Onofre-Oliveira, Guilherme L. Yamamoto, Letícia Nogueira, Letícia Y. Tasaki, Rafaela R. Cardoso, Rita C. M. Pavanello, Helga C. A. Silva, Merari F. R. Ferrari, Anne Bigot, Vincent Mouly, Mariz Vainzof
      Disease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020

Z

  1. Zaggia, Ivan

    1. RESEARCH ARTICLE
      A luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathy
      Celia Cordero-Sanchez, Beatrice Riva, Simone Reano, Nausicaa Clemente, Ivan Zaggia, Federico A. Ruffinatti, Alberto Potenzieri, Tracey Pirali, Salvatore Raffa, Sabina Sangaletti, Mario P. Colombo, Alessandra Bertoni, Matteo Garibaldi, Nicoletta Filigheddu, Armando A. Genazzani
      Disease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019
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Disease Models & Mechanisms: 13 (2)
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  • Open Access

    Altered cytoskeletal arrangement in induced pluripotent stem cells (iPSCs) and motor neurons from patients with riboflavin transporter deficiency

    Alessia Niceforo, Chiara Marioli, Fiorella Colasuonno, Stefania Petrini, Keith Massey, Marco Tartaglia, Enrico Bertini, Sandra Moreno, Claudia Compagnucci
    PDF
  • Open Access

    Genetic background modifies vulnerability to glaucoma related phenotypes in Lmx1b mutant mice

    N. G. Tolman, R. Balasubramanian, D. G. Macalinao, A. L. Kearney, K. H. MacNicoll, C. L. Montgomery, W. N. de Vries, I. J. Jackson, S. H. Cross, K. Kizhatil, K. S. Nair, S. W. M. John
    PDF
  • Open Access

    Neural crest-specific deletion of Bmp7 leads to midfacial hypoplasia, nasal airway obstruction, and disordered breathing modelling Obstructive Sleep Apnea

    Pranidhi Baddam, Vivian Biancardi, Daniela M. Roth, Farah Eaton, Claudine Thereza-Bussolaro, Rupasri Mandal, David S. Wishart, Amy Barr, Joanna MacLean, Carlos Flores-Mir, Silvia Pagliardini, Daniel Graf
    PDF
  • Open Access

    Inducible expression of human C9ORF72 36x G4C2 hexanucleotide repeats is sufficient to cause RAN translation and rapid muscular atrophy in mice

    F. W. Riemslagh, E. C. van der Toorn, R. F. M. Verhagen, A. Maas, L. W. J. Bosman, R. K. Hukema, R. Willemsen
    PDF
  • Open Access

    A muscle growth promoting treatment based on the attenuation of activin/myostatin signalling in young mice results in long-term testicular abnormalities

    Danielle Vaughan, Robert Mitchell, Oliver Kretz, David Chambers, Maciej Lalowski, Helge Amthor, Olli Ritvos, Arja Pasternack, Antonios Matsakas, Sakthivel Vaiyapuri, Tobias B. Huber, Bernd Denecke, Abir Mukherjee, Darius Widera, Ketan Patel
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Professor Elizabeth Patton appointed as DMM’s next Editor-in-Chief

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Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the Drosophila heart

Research from Silke Sperling and colleagues uses Drosophila to identify MYOM2 as a candidate gene in congenital heart malformations in this issue’s Editor’s choice.


C. elegans as a disease model

A new Research article from Doyle et al., models spinal muscular atrophy in C. elegans to show that that targeting therapies to muscle cells is more effective than neuronal delivery. Find more research using C. elegans as a disease model in our latest subject collection.


Call for papers – The RAS Pathway: Diseases, Therapeutics and Beyond

Our upcoming special issue is now welcoming submissions until 1 April 2021. Guest-edited by Donita Brady (Perelman School of Medicine at the University of Pennsylvania, USA) and Arvin Dar (Icahn School of Medicine at Mount Sinai, USA), the issue will focus on the targeting the RAS pathway. Find out more about the issue and how to submit your manuscript.


Interview – Kim Landry-Truchon and Nicolas Houde

In an interview, first authors Kim Landry-Truchon and Nicolas Houde discuss their mouse model of the early stages of pleuropulmonary blastoma, reflecting on the implications of their work and the future of their field.

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