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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

  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. 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. Suchaki, 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. 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

  4. 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

  5. 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

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. Suchaki, 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. 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. 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

  2. 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. Suchaki, 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

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 10 December 2019

  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. Suchaki, 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 10 December 2019

  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. 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

  4. 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 10 December 2019

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 10 December 2019

  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 10 December 2019

  4. 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

  5. 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 10 December 2019

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. 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

  4. 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

  5. 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

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 10 December 2019

  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. 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

  9. 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

  10. 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

  11. 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. 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

  2. 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

  3. 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 10 December 2019

  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. 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

  4. 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

  5. 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

  6. 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

  7. 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. 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

  2. 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

  3. 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

  4. 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

  5. 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

  6. 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

  7. 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 10 December 2019

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. Suchaki, 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

  12. Suchaki, 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. Suchaki, 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. 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

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. Suchaki, 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

  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. 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. Suchaki, 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. 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. Suchaki, 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. 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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First person – Zhaoyang, Omkara, Christine and Yong

Photos of first authors

Catch up with our first authors in the latest interviews. Zhaoyang Liu, Omkara Lakshmi Veeranki, Christine Lehner and Yong Chen discuss the implications of their research, life as an early-career researcher and their next steps.

A new resource article by Dipen Maru's group describes a patient-derived orthotopic xenograft model of gastroesphageal cancer that maintains the morphological and molecular characteristics of the source tumour.

Photo of Wiston House, where the Workshops are held

There are still funded places available for early-career researchers at July’s Workshop on inflammaging and regeneration! The deadline for applications is 14 February. We’re also interested to hear your ideas for Workshops – find out more about how we can provide support.

The first preLight of 2020 and the first time we’ve highlighted a medRxiv preprint! Zhang-He Goh discusses a new preprint by Witte et al. assessing the correlation between ovarian cancer patient-derived organoids and patients’ clinical response to chemotherapeutics.

Cover article – Regulation of terminal hypertrophic chondrocyte differentiation in Prmt5 mutant mice modeling infantile idiopathic scoliosis

On the cover, research by Liu et al. demonstrates that the loss of Prmt5 osteochondral progenitors impairs terminal hypertrophic chondrocyte differentiation, leading to defects in endochondral bone formation and models infantile idiopathic scoliosis in mouse.