A
Aartsma-Rus, Annemieke
- SPECIAL ARTICLEThe use of genetically humanized animal models for personalized medicine approachesAnnemieke Aartsma-Rus, Maaike van PuttenDisease Models & Mechanisms 2020 13: dmm041673 doi: 10.1242/dmm.041673 Published 1 October 2019
- REVIEWImproving 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 LucaDisease Models & Mechanisms 2020 13: dmm042903 doi: 10.1242/dmm.042903 Published 7 February 2020
- EDITORIALMoving neuromuscular disorders research forward: from novel models to clinical studiesMaaike van Putten, Julija Hmeljak, Annemieke Aartsma-Rus, James J. DowlingDisease Models & Mechanisms 2020 13: dmm044370 doi: 10.1242/dmm.044370 Published 25 February 2020
Ahmed, Syed F.
- RESEARCH ARTICLEA comparison of the bone and growth phenotype of mdx, mdx:Cmah−/− and mdx:Utrn+/− murine models with the C57BL/10 wild-type mouseClaire L. Wood, Karla J. Suchacki, Rob van ’t Hof, Will P. Cawthorn, Scott Dillon, Volker Straub, Sze Choong Wong, Syed F. Ahmed, Colin FarquharsonDisease Models & Mechanisms 2020 13: dmm040659 doi: 10.1242/dmm.040659 Published 10 January 2020
Al-Mshhdani, Basma A.
- REVIEWBiomarkers for Duchenne muscular dystrophy: myonecrosis, inflammation and oxidative stressMiranda D. Grounds, Jessica R. Terrill, Basma A. Al-Mshhdani, Marisa N. Duong, Hannah G. Radley-Crabb, Peter G. ArthurDisease Models & Mechanisms 2020 13: dmm043638 doi: 10.1242/dmm.043638 Published 2 March 2020
Almeida, Camila F.
- RESEARCH ARTICLEAltered in vitro muscle differentiation in X-linked myopathy with excessive autophagyStephanie 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 VainzofDisease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020
Arancillo, Marife
- RESEARCH ARTICLEIn vivo cerebellar circuit function is disrupted in an mdx mouse model of Duchenne muscular dystrophyTrace L. Stay, Lauren N. Miterko, Marife Arancillo, Tao Lin, Roy V. SillitoeDisease Models & Mechanisms 2020 13: dmm040840 doi: 10.1242/dmm.040840 Published 9 December 2019
Ardan, Taras
- RESEARCH ARTICLETransgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegenerationTaras Ardan, Monika Baxa, Božena Levinská, Miroslava Sedláčková, The Duong Nguyen, Jiří Klíma, Štefan Juhás, Jana Juhásová, Petra Šmatlíková, Petra Vochozková, Jan Motlík, Zdenka EllederováDisease Models & Mechanisms 2020 13: dmm041319 doi: 10.1242/dmm.041319 Published 12 December 2019
Arthur, Peter G.
- REVIEWBiomarkers for Duchenne muscular dystrophy: myonecrosis, inflammation and oxidative stressMiranda D. Grounds, Jessica R. Terrill, Basma A. Al-Mshhdani, Marisa N. Duong, Hannah G. Radley-Crabb, Peter G. ArthurDisease Models & Mechanisms 2020 13: dmm043638 doi: 10.1242/dmm.043638 Published 2 March 2020
B
Barefield, David Y.
- RESEARCH ARTICLEA gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skippingAlexis R. Demonbreun, Eugene J. Wyatt, Katherine S. Fallon, Claire C. Oosterbaan, Patrick G. Page, Michele Hadhazy, Mattia Quattrocelli, David Y. Barefield, Elizabeth M. McNallyDisease Models & Mechanisms 2020 13: dmm040832 doi: 10.1242/dmm.040832 Published 4 November 2019
Bassis, Christine M.
- RESEARCH ARTICLETemporal evolution of the microbiome, immune system and epigenome with disease progression in ALS miceClaudia 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. FeldmanDisease Models & Mechanisms 2020 13: dmm041947 doi: 10.1242/dmm.041947 Published 15 November 2019
Baxa, Monika
- RESEARCH ARTICLELongitudinal study revealing motor, cognitive and behavioral decline in a transgenic minipig model of Huntington's diseaseMonika Baxa, Bozena Levinska, Monika Skrivankova, Matous Pokorny, Jana Juhasova, Jiri Klima, Jiri Klempir, Jan Motlı́k, Stefan Juhas, Zdenka EllederovaDisease Models & Mechanisms 2020 13: dmm041293 doi: 10.1242/dmm.041293 Published 12 December 2019
- RESEARCH ARTICLETransgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegenerationTaras Ardan, Monika Baxa, Božena Levinská, Miroslava Sedláčková, The Duong Nguyen, Jiří Klíma, Štefan Juhás, Jana Juhásová, Petra Šmatlíková, Petra Vochozková, Jan Motlík, Zdenka EllederováDisease Models & Mechanisms 2020 13: dmm041319 doi: 10.1242/dmm.041319 Published 12 December 2019
Bertoni, Alessandra
- RESEARCH ARTICLEA luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathyCelia 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. GenazzaniDisease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019
Bigot, Anne
- RESEARCH ARTICLEAltered in vitro muscle differentiation in X-linked myopathy with excessive autophagyStephanie 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 VainzofDisease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020
C
Cardoso, Rafaela R.
- RESEARCH ARTICLEAltered in vitro muscle differentiation in X-linked myopathy with excessive autophagyStephanie 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 VainzofDisease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020
Cawthorn, Will P.
- RESEARCH ARTICLEA comparison of the bone and growth phenotype of mdx, mdx:Cmah−/− and mdx:Utrn+/− murine models with the C57BL/10 wild-type mouseClaire L. Wood, Karla J. Suchacki, Rob van ’t Hof, Will P. Cawthorn, Scott Dillon, Volker Straub, Sze Choong Wong, Syed F. Ahmed, Colin FarquharsonDisease Models & Mechanisms 2020 13: dmm040659 doi: 10.1242/dmm.040659 Published 10 January 2020
Chagovetz, Alexis A.
- RESEARCH ARTICLEInteractions among ryanodine receptor isotypes contribute to muscle fiber type development and functionAlexis A. Chagovetz, Dana Klatt Shaw, Erin Ritchie, Kazuyuki Hoshijima, David J. GrunwaldDisease Models & Mechanisms 2020 13: dmm038844 doi: 10.1242/dmm.038844 Published 18 September 2019
Clemente, Nausicaa
- RESEARCH ARTICLEA luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathyCelia 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. GenazzaniDisease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019
Colombo, Mario P.
- RESEARCH ARTICLEA luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathyCelia 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. GenazzaniDisease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019
Cordero-Sanchez, Celia
- RESEARCH ARTICLEA luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathyCelia 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. GenazzaniDisease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019
Cowling, Belinda S.
- SPECIAL ARTICLETranslational medicine in neuromuscular disorders: from academia to industryBelinda S. Cowling, Leen ThielemansDisease Models & Mechanisms 2020 13: dmm041434 doi: 10.1242/dmm.041434 Published 24 October 2019
Csimma, Cristina
- REVIEWImproving 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 LucaDisease Models & Mechanisms 2020 13: dmm042903 doi: 10.1242/dmm.042903 Published 7 February 2020
Cutrupi, Anthony
- RESEARCH ARTICLEModelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCsGonzalo 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. KennersonDisease Models & Mechanisms 2020 13: dmm041541 doi: 10.1242/dmm.041541 Published 13 January 2020
D
de Greef, Jessica C.
- REVIEWMouse models for muscular dystrophies: an overviewMaaike van Putten, Erin M. Lloyd, Jessica C. de Greef, Vered Raz, Raffaella Willmann, Miranda D. GroundsDisease Models & Mechanisms 2020 13: dmm043562 doi: 10.1242/dmm.043562 Published 21 February 2020
De Luca, Annamaria
- REVIEWImproving 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 LucaDisease Models & Mechanisms 2020 13: dmm042903 doi: 10.1242/dmm.042903 Published 7 February 2020
Demonbreun, Alexis R.
- RESEARCH ARTICLEA gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skippingAlexis R. Demonbreun, Eugene J. Wyatt, Katherine S. Fallon, Claire C. Oosterbaan, Patrick G. Page, Michele Hadhazy, Mattia Quattrocelli, David Y. Barefield, Elizabeth M. McNallyDisease Models & Mechanisms 2020 13: dmm040832 doi: 10.1242/dmm.040832 Published 4 November 2019
Dillon, Scott
- RESEARCH ARTICLEA comparison of the bone and growth phenotype of mdx, mdx:Cmah−/− and mdx:Utrn+/− murine models with the C57BL/10 wild-type mouseClaire L. Wood, Karla J. Suchacki, Rob van ’t Hof, Will P. Cawthorn, Scott Dillon, Volker Straub, Sze Choong Wong, Syed F. Ahmed, Colin FarquharsonDisease Models & Mechanisms 2020 13: dmm040659 doi: 10.1242/dmm.040659 Published 10 January 2020
Dowling, James J.
- EDITORIALMoving neuromuscular disorders research forward: from novel models to clinical studiesMaaike van Putten, Julija Hmeljak, Annemieke Aartsma-Rus, James J. DowlingDisease Models & Mechanisms 2020 13: dmm044370 doi: 10.1242/dmm.044370 Published 25 February 2020
Duong, Marisa N.
- REVIEWBiomarkers for Duchenne muscular dystrophy: myonecrosis, inflammation and oxidative stressMiranda D. Grounds, Jessica R. Terrill, Basma A. Al-Mshhdani, Marisa N. Duong, Hannah G. Radley-Crabb, Peter G. ArthurDisease Models & Mechanisms 2020 13: dmm043638 doi: 10.1242/dmm.043638 Published 2 March 2020
E
Eid, Stephanie A.
- RESEARCH ARTICLEIntegrated lipidomic and transcriptomic analyses identify altered nerve triglycerides in mouse models of prediabetes and type 2 diabetesPhillipe D. O'Brien, Kai Guo, Stephanie A. Eid, Amy E. Rumora, Lucy M. Hinder, John M. Hayes, Faye E. Mendelson, Junguk Hur, Eva L. FeldmanDisease Models & Mechanisms 2020 13: dmm042101 doi: 10.1242/dmm.042101 Published 24 January 2020
Ellederová, Zdenka
- RESEARCH ARTICLETransgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegenerationTaras Ardan, Monika Baxa, Božena Levinská, Miroslava Sedláčková, The Duong Nguyen, Jiří Klíma, Štefan Juhás, Jana Juhásová, Petra Šmatlíková, Petra Vochozková, Jan Motlík, Zdenka EllederováDisease Models & Mechanisms 2020 13: dmm041319 doi: 10.1242/dmm.041319 Published 12 December 2019
Ellederova, Zdenka
- RESEARCH ARTICLELongitudinal study revealing motor, cognitive and behavioral decline in a transgenic minipig model of Huntington's diseaseMonika Baxa, Bozena Levinska, Monika Skrivankova, Matous Pokorny, Jana Juhasova, Jiri Klima, Jiri Klempir, Jan Motlı́k, Stefan Juhas, Zdenka EllederovaDisease Models & Mechanisms 2020 13: dmm041293 doi: 10.1242/dmm.041293 Published 12 December 2019
Ellis, Melina
- RESEARCH ARTICLEModelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCsGonzalo 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. KennersonDisease Models & Mechanisms 2020 13: dmm041541 doi: 10.1242/dmm.041541 Published 13 January 2020
Evans, Matthew C.
- RESEARCH ARTICLETemporal evolution of the microbiome, immune system and epigenome with disease progression in ALS miceClaudia 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. FeldmanDisease Models & Mechanisms 2020 13: dmm041947 doi: 10.1242/dmm.041947 Published 15 November 2019
F
Fallon, Katherine S.
- RESEARCH ARTICLEA gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skippingAlexis R. Demonbreun, Eugene J. Wyatt, Katherine S. Fallon, Claire C. Oosterbaan, Patrick G. Page, Michele Hadhazy, Mattia Quattrocelli, David Y. Barefield, Elizabeth M. McNallyDisease Models & Mechanisms 2020 13: dmm040832 doi: 10.1242/dmm.040832 Published 4 November 2019
Farquharson, Colin
- RESEARCH ARTICLEA comparison of the bone and growth phenotype of mdx, mdx:Cmah−/− and mdx:Utrn+/− murine models with the C57BL/10 wild-type mouseClaire L. Wood, Karla J. Suchacki, Rob van ’t Hof, Will P. Cawthorn, Scott Dillon, Volker Straub, Sze Choong Wong, Syed F. Ahmed, Colin FarquharsonDisease Models & Mechanisms 2020 13: dmm040659 doi: 10.1242/dmm.040659 Published 10 January 2020
Feldman, Eva L.
- RESEARCH ARTICLETemporal evolution of the microbiome, immune system and epigenome with disease progression in ALS miceClaudia 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. FeldmanDisease Models & Mechanisms 2020 13: dmm041947 doi: 10.1242/dmm.041947 Published 15 November 2019
- RESEARCH ARTICLEIntegrated lipidomic and transcriptomic analyses identify altered nerve triglycerides in mouse models of prediabetes and type 2 diabetesPhillipe D. O'Brien, Kai Guo, Stephanie A. Eid, Amy E. Rumora, Lucy M. Hinder, John M. Hayes, Faye E. Mendelson, Junguk Hur, Eva L. FeldmanDisease Models & Mechanisms 2020 13: dmm042101 doi: 10.1242/dmm.042101 Published 24 January 2020
Fernandes, Stephanie A.
- RESEARCH ARTICLEAltered in vitro muscle differentiation in X-linked myopathy with excessive autophagyStephanie 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 VainzofDisease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020
Ferrari, Merari F. R.
- RESEARCH ARTICLEAltered in vitro muscle differentiation in X-linked myopathy with excessive autophagyStephanie 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 VainzofDisease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020
Figueroa-Romero, Claudia
- RESEARCH ARTICLETemporal evolution of the microbiome, immune system and epigenome with disease progression in ALS miceClaudia 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. FeldmanDisease Models & Mechanisms 2020 13: dmm041947 doi: 10.1242/dmm.041947 Published 15 November 2019
Filigheddu, Nicoletta
- RESEARCH ARTICLEA luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathyCelia 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. GenazzaniDisease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019
G
Garibaldi, Matteo
- RESEARCH ARTICLEA luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathyCelia 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. GenazzaniDisease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019
Genazzani, Armando A.
- RESEARCH ARTICLEA luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathyCelia 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. GenazzaniDisease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019
Grounds, Miranda D.
- REVIEWImproving 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 LucaDisease Models & Mechanisms 2020 13: dmm042903 doi: 10.1242/dmm.042903 Published 7 February 2020
- REVIEWMouse models for muscular dystrophies: an overviewMaaike van Putten, Erin M. Lloyd, Jessica C. de Greef, Vered Raz, Raffaella Willmann, Miranda D. GroundsDisease Models & Mechanisms 2020 13: dmm043562 doi: 10.1242/dmm.043562 Published 21 February 2020
- REVIEWBiomarkers for Duchenne muscular dystrophy: myonecrosis, inflammation and oxidative stressMiranda D. Grounds, Jessica R. Terrill, Basma A. Al-Mshhdani, Marisa N. Duong, Hannah G. Radley-Crabb, Peter G. ArthurDisease Models & Mechanisms 2020 13: dmm043638 doi: 10.1242/dmm.043638 Published 2 March 2020
Grunwald, David J.
- RESEARCH ARTICLEInteractions among ryanodine receptor isotypes contribute to muscle fiber type development and functionAlexis A. Chagovetz, Dana Klatt Shaw, Erin Ritchie, Kazuyuki Hoshijima, David J. GrunwaldDisease Models & Mechanisms 2020 13: dmm038844 doi: 10.1242/dmm.038844 Published 18 September 2019
Guo, Kai
- RESEARCH ARTICLETemporal evolution of the microbiome, immune system and epigenome with disease progression in ALS miceClaudia 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. FeldmanDisease Models & Mechanisms 2020 13: dmm041947 doi: 10.1242/dmm.041947 Published 15 November 2019
- RESEARCH ARTICLEIntegrated lipidomic and transcriptomic analyses identify altered nerve triglycerides in mouse models of prediabetes and type 2 diabetesPhillipe D. O'Brien, Kai Guo, Stephanie A. Eid, Amy E. Rumora, Lucy M. Hinder, John M. Hayes, Faye E. Mendelson, Junguk Hur, Eva L. FeldmanDisease Models & Mechanisms 2020 13: dmm042101 doi: 10.1242/dmm.042101 Published 24 January 2020
H
Hadhazy, Michele
- RESEARCH ARTICLEA gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skippingAlexis R. Demonbreun, Eugene J. Wyatt, Katherine S. Fallon, Claire C. Oosterbaan, Patrick G. Page, Michele Hadhazy, Mattia Quattrocelli, David Y. Barefield, Elizabeth M. McNallyDisease Models & Mechanisms 2020 13: dmm040832 doi: 10.1242/dmm.040832 Published 4 November 2019
Hayes, John M.
- RESEARCH ARTICLEIntegrated lipidomic and transcriptomic analyses identify altered nerve triglycerides in mouse models of prediabetes and type 2 diabetesPhillipe D. O'Brien, Kai Guo, Stephanie A. Eid, Amy E. Rumora, Lucy M. Hinder, John M. Hayes, Faye E. Mendelson, Junguk Hur, Eva L. FeldmanDisease Models & Mechanisms 2020 13: dmm042101 doi: 10.1242/dmm.042101 Published 24 January 2020
Hinder, Lucy M.
- RESEARCH ARTICLEIntegrated lipidomic and transcriptomic analyses identify altered nerve triglycerides in mouse models of prediabetes and type 2 diabetesPhillipe D. O'Brien, Kai Guo, Stephanie A. Eid, Amy E. Rumora, Lucy M. Hinder, John M. Hayes, Faye E. Mendelson, Junguk Hur, Eva L. FeldmanDisease Models & Mechanisms 2020 13: dmm042101 doi: 10.1242/dmm.042101 Published 24 January 2020
Hmeljak, Julija
- EDITORIALMoving neuromuscular disorders research forward: from novel models to clinical studiesMaaike van Putten, Julija Hmeljak, Annemieke Aartsma-Rus, James J. DowlingDisease Models & Mechanisms 2020 13: dmm044370 doi: 10.1242/dmm.044370 Published 25 February 2020
Hoshijima, Kazuyuki
- RESEARCH ARTICLEInteractions among ryanodine receptor isotypes contribute to muscle fiber type development and functionAlexis A. Chagovetz, Dana Klatt Shaw, Erin Ritchie, Kazuyuki Hoshijima, David J. GrunwaldDisease Models & Mechanisms 2020 13: dmm038844 doi: 10.1242/dmm.038844 Published 18 September 2019
Hur, Junguk
- RESEARCH ARTICLETemporal evolution of the microbiome, immune system and epigenome with disease progression in ALS miceClaudia 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. FeldmanDisease Models & Mechanisms 2020 13: dmm041947 doi: 10.1242/dmm.041947 Published 15 November 2019
- RESEARCH ARTICLEIntegrated lipidomic and transcriptomic analyses identify altered nerve triglycerides in mouse models of prediabetes and type 2 diabetesPhillipe D. O'Brien, Kai Guo, Stephanie A. Eid, Amy E. Rumora, Lucy M. Hinder, John M. Hayes, Faye E. Mendelson, Junguk Hur, Eva L. FeldmanDisease Models & Mechanisms 2020 13: dmm042101 doi: 10.1242/dmm.042101 Published 24 January 2020
J
Juhas, Stefan
- RESEARCH ARTICLELongitudinal study revealing motor, cognitive and behavioral decline in a transgenic minipig model of Huntington's diseaseMonika Baxa, Bozena Levinska, Monika Skrivankova, Matous Pokorny, Jana Juhasova, Jiri Klima, Jiri Klempir, Jan Motlı́k, Stefan Juhas, Zdenka EllederovaDisease Models & Mechanisms 2020 13: dmm041293 doi: 10.1242/dmm.041293 Published 12 December 2019
Juhás, Štefan
- RESEARCH ARTICLETransgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegenerationTaras Ardan, Monika Baxa, Božena Levinská, Miroslava Sedláčková, The Duong Nguyen, Jiří Klíma, Štefan Juhás, Jana Juhásová, Petra Šmatlíková, Petra Vochozková, Jan Motlík, Zdenka EllederováDisease Models & Mechanisms 2020 13: dmm041319 doi: 10.1242/dmm.041319 Published 12 December 2019
Juhásová, Jana
- RESEARCH ARTICLETransgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegenerationTaras Ardan, Monika Baxa, Božena Levinská, Miroslava Sedláčková, The Duong Nguyen, Jiří Klíma, Štefan Juhás, Jana Juhásová, Petra Šmatlíková, Petra Vochozková, Jan Motlík, Zdenka EllederováDisease Models & Mechanisms 2020 13: dmm041319 doi: 10.1242/dmm.041319 Published 12 December 2019
Juhasova, Jana
- RESEARCH ARTICLELongitudinal study revealing motor, cognitive and behavioral decline in a transgenic minipig model of Huntington's diseaseMonika Baxa, Bozena Levinska, Monika Skrivankova, Matous Pokorny, Jana Juhasova, Jiri Klima, Jiri Klempir, Jan Motlı́k, Stefan Juhas, Zdenka EllederovaDisease Models & Mechanisms 2020 13: dmm041293 doi: 10.1242/dmm.041293 Published 12 December 2019
K
Kennerson, Marina L.
- RESEARCH ARTICLEModelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCsGonzalo 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. KennersonDisease Models & Mechanisms 2020 13: dmm041541 doi: 10.1242/dmm.041541 Published 13 January 2020
Klatt Shaw, Dana
- RESEARCH ARTICLEInteractions among ryanodine receptor isotypes contribute to muscle fiber type development and functionAlexis A. Chagovetz, Dana Klatt Shaw, Erin Ritchie, Kazuyuki Hoshijima, David J. GrunwaldDisease Models & Mechanisms 2020 13: dmm038844 doi: 10.1242/dmm.038844 Published 18 September 2019
Klempir, Jiri
- RESEARCH ARTICLELongitudinal study revealing motor, cognitive and behavioral decline in a transgenic minipig model of Huntington's diseaseMonika Baxa, Bozena Levinska, Monika Skrivankova, Matous Pokorny, Jana Juhasova, Jiri Klima, Jiri Klempir, Jan Motlı́k, Stefan Juhas, Zdenka EllederovaDisease Models & Mechanisms 2020 13: dmm041293 doi: 10.1242/dmm.041293 Published 12 December 2019
Klima, Jiri
- RESEARCH ARTICLELongitudinal study revealing motor, cognitive and behavioral decline in a transgenic minipig model of Huntington's diseaseMonika Baxa, Bozena Levinska, Monika Skrivankova, Matous Pokorny, Jana Juhasova, Jiri Klima, Jiri Klempir, Jan Motlı́k, Stefan Juhas, Zdenka EllederovaDisease Models & Mechanisms 2020 13: dmm041293 doi: 10.1242/dmm.041293 Published 12 December 2019
Klíma, Jiří
- RESEARCH ARTICLETransgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegenerationTaras Ardan, Monika Baxa, Božena Levinská, Miroslava Sedláčková, The Duong Nguyen, Jiří Klíma, Štefan Juhás, Jana Juhásová, Petra Šmatlíková, Petra Vochozková, Jan Motlík, Zdenka EllederováDisease Models & Mechanisms 2020 13: dmm041319 doi: 10.1242/dmm.041319 Published 12 December 2019
Kunkel, Louis M.
- A MODEL FOR LIFETo dystrophin and beyond: an interview with Louis KunkelLouis M. KunkelDisease Models & Mechanisms 2020 13: dmm043018 doi: 10.1242/dmm.043018 Published 12 December 2019
Kuriakose, Jakob
- RESEARCH ARTICLEModelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCsGonzalo 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. KennersonDisease Models & Mechanisms 2020 13: dmm041541 doi: 10.1242/dmm.041541 Published 13 January 2020
L
La Fontaine, Sharon
- RESEARCH ARTICLEModelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCsGonzalo 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. KennersonDisease Models & Mechanisms 2020 13: dmm041541 doi: 10.1242/dmm.041541 Published 13 January 2020
Lazar, Monize
- RESEARCH ARTICLEAltered in vitro muscle differentiation in X-linked myopathy with excessive autophagyStephanie 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 VainzofDisease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020
Lee, Joanne
- REVIEWImproving 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 LucaDisease Models & Mechanisms 2020 13: dmm042903 doi: 10.1242/dmm.042903 Published 7 February 2020
Levinska, Bozena
- RESEARCH ARTICLELongitudinal study revealing motor, cognitive and behavioral decline in a transgenic minipig model of Huntington's diseaseMonika Baxa, Bozena Levinska, Monika Skrivankova, Matous Pokorny, Jana Juhasova, Jiri Klima, Jiri Klempir, Jan Motlı́k, Stefan Juhas, Zdenka EllederovaDisease Models & Mechanisms 2020 13: dmm041293 doi: 10.1242/dmm.041293 Published 12 December 2019
Levinská, Božena
- RESEARCH ARTICLETransgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegenerationTaras Ardan, Monika Baxa, Božena Levinská, Miroslava Sedláčková, The Duong Nguyen, Jiří Klíma, Štefan Juhás, Jana Juhásová, Petra Šmatlíková, Petra Vochozková, Jan Motlík, Zdenka EllederováDisease Models & Mechanisms 2020 13: dmm041319 doi: 10.1242/dmm.041319 Published 12 December 2019
Lin, Tao
- RESEARCH ARTICLEIn vivo cerebellar circuit function is disrupted in an mdx mouse model of Duchenne muscular dystrophyTrace L. Stay, Lauren N. Miterko, Marife Arancillo, Tao Lin, Roy V. SillitoeDisease Models & Mechanisms 2020 13: dmm040840 doi: 10.1242/dmm.040840 Published 9 December 2019
Lloyd, Erin M.
- REVIEWMouse models for muscular dystrophies: an overviewMaaike van Putten, Erin M. Lloyd, Jessica C. de Greef, Vered Raz, Raffaella Willmann, Miranda D. GroundsDisease Models & Mechanisms 2020 13: dmm043562 doi: 10.1242/dmm.043562 Published 21 February 2020
M
Mao, Di
- RESEARCH ARTICLEModelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCsGonzalo 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. KennersonDisease Models & Mechanisms 2020 13: dmm041541 doi: 10.1242/dmm.041541 Published 13 January 2020
McDermott, Andrew J.
- RESEARCH ARTICLETemporal evolution of the microbiome, immune system and epigenome with disease progression in ALS miceClaudia 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. FeldmanDisease Models & Mechanisms 2020 13: dmm041947 doi: 10.1242/dmm.041947 Published 15 November 2019
McNally, Elizabeth
- A MODEL FOR LIFEAt the heart of genetic disease: an interview with Elizabeth McNallyElizabeth McNallyDisease Models & Mechanisms 2020 13: dmm041566 doi: 10.1242/dmm.041566 Published 18 September 2019
McNally, Elizabeth M.
- RESEARCH ARTICLEA gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skippingAlexis R. Demonbreun, Eugene J. Wyatt, Katherine S. Fallon, Claire C. Oosterbaan, Patrick G. Page, Michele Hadhazy, Mattia Quattrocelli, David Y. Barefield, Elizabeth M. McNallyDisease Models & Mechanisms 2020 13: dmm040832 doi: 10.1242/dmm.040832 Published 4 November 2019
Mendelson, Faye E.
- RESEARCH ARTICLEIntegrated lipidomic and transcriptomic analyses identify altered nerve triglycerides in mouse models of prediabetes and type 2 diabetesPhillipe D. O'Brien, Kai Guo, Stephanie A. Eid, Amy E. Rumora, Lucy M. Hinder, John M. Hayes, Faye E. Mendelson, Junguk Hur, Eva L. FeldmanDisease Models & Mechanisms 2020 13: dmm042101 doi: 10.1242/dmm.042101 Published 24 January 2020
Mikhail, Kristen A.
- RESEARCH ARTICLETemporal evolution of the microbiome, immune system and epigenome with disease progression in ALS miceClaudia 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. FeldmanDisease Models & Mechanisms 2020 13: dmm041947 doi: 10.1242/dmm.041947 Published 15 November 2019
Miterko, Lauren N.
- RESEARCH ARTICLEIn vivo cerebellar circuit function is disrupted in an mdx mouse model of Duchenne muscular dystrophyTrace L. Stay, Lauren N. Miterko, Marife Arancillo, Tao Lin, Roy V. SillitoeDisease Models & Mechanisms 2020 13: dmm040840 doi: 10.1242/dmm.040840 Published 9 December 2019
Morgan, Jennifer
- AT A GLANCESkeletal muscle in health and diseaseJennifer Morgan, Terence PartridgeDisease Models & Mechanisms 2020 13: dmm042192 doi: 10.1242/dmm.042192 Published 6 February 2020
Motlík, Jan
- RESEARCH ARTICLETransgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegenerationTaras Ardan, Monika Baxa, Božena Levinská, Miroslava Sedláčková, The Duong Nguyen, Jiří Klíma, Štefan Juhás, Jana Juhásová, Petra Šmatlíková, Petra Vochozková, Jan Motlík, Zdenka EllederováDisease Models & Mechanisms 2020 13: dmm041319 doi: 10.1242/dmm.041319 Published 12 December 2019
Motlı́k, Jan
- RESEARCH ARTICLELongitudinal study revealing motor, cognitive and behavioral decline in a transgenic minipig model of Huntington's diseaseMonika Baxa, Bozena Levinska, Monika Skrivankova, Matous Pokorny, Jana Juhasova, Jiri Klima, Jiri Klempir, Jan Motlı́k, Stefan Juhas, Zdenka EllederovaDisease Models & Mechanisms 2020 13: dmm041293 doi: 10.1242/dmm.041293 Published 12 December 2019
Mouly, Vincent
- RESEARCH ARTICLEAltered in vitro muscle differentiation in X-linked myopathy with excessive autophagyStephanie 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 VainzofDisease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020
Murdock, Benjamin J.
- RESEARCH ARTICLETemporal evolution of the microbiome, immune system and epigenome with disease progression in ALS miceClaudia 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. FeldmanDisease Models & Mechanisms 2020 13: dmm041947 doi: 10.1242/dmm.041947 Published 15 November 2019
N
Nagaraju, Kanneboyina
- REVIEWImproving 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 LucaDisease Models & Mechanisms 2020 13: dmm042903 doi: 10.1242/dmm.042903 Published 7 February 2020
Nguyen, The Duong
- RESEARCH ARTICLETransgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegenerationTaras Ardan, Monika Baxa, Božena Levinská, Miroslava Sedláčková, The Duong Nguyen, Jiří Klíma, Štefan Juhás, Jana Juhásová, Petra Šmatlíková, Petra Vochozková, Jan Motlík, Zdenka EllederováDisease Models & Mechanisms 2020 13: dmm041319 doi: 10.1242/dmm.041319 Published 12 December 2019
Nicholson, Garth
- RESEARCH ARTICLEModelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCsGonzalo 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. KennersonDisease Models & Mechanisms 2020 13: dmm041541 doi: 10.1242/dmm.041541 Published 13 January 2020
Nogueira, Letícia
- RESEARCH ARTICLEAltered in vitro muscle differentiation in X-linked myopathy with excessive autophagyStephanie 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 VainzofDisease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020
O
O'Brien, Phillipe D.
- RESEARCH ARTICLETemporal evolution of the microbiome, immune system and epigenome with disease progression in ALS miceClaudia 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. FeldmanDisease Models & Mechanisms 2020 13: dmm041947 doi: 10.1242/dmm.041947 Published 15 November 2019
- RESEARCH ARTICLEIntegrated lipidomic and transcriptomic analyses identify altered nerve triglycerides in mouse models of prediabetes and type 2 diabetesPhillipe D. O'Brien, Kai Guo, Stephanie A. Eid, Amy E. Rumora, Lucy M. Hinder, John M. Hayes, Faye E. Mendelson, Junguk Hur, Eva L. FeldmanDisease Models & Mechanisms 2020 13: dmm042101 doi: 10.1242/dmm.042101 Published 24 January 2020
Onofre-Oliveira, Paula
- RESEARCH ARTICLEAltered in vitro muscle differentiation in X-linked myopathy with excessive autophagyStephanie 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 VainzofDisease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020
Oosterbaan, Claire C.
- RESEARCH ARTICLEA gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skippingAlexis R. Demonbreun, Eugene J. Wyatt, Katherine S. Fallon, Claire C. Oosterbaan, Patrick G. Page, Michele Hadhazy, Mattia Quattrocelli, David Y. Barefield, Elizabeth M. McNallyDisease Models & Mechanisms 2020 13: dmm040832 doi: 10.1242/dmm.040832 Published 4 November 2019
P
Paez-Colasante, Ximena
- RESEARCH ARTICLETemporal evolution of the microbiome, immune system and epigenome with disease progression in ALS miceClaudia 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. FeldmanDisease Models & Mechanisms 2020 13: dmm041947 doi: 10.1242/dmm.041947 Published 15 November 2019
Page, Patrick G.
- RESEARCH ARTICLEA gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skippingAlexis R. Demonbreun, Eugene J. Wyatt, Katherine S. Fallon, Claire C. Oosterbaan, Patrick G. Page, Michele Hadhazy, Mattia Quattrocelli, David Y. Barefield, Elizabeth M. McNallyDisease Models & Mechanisms 2020 13: dmm040832 doi: 10.1242/dmm.040832 Published 4 November 2019
Partridge, Terence
- AT A GLANCESkeletal muscle in health and diseaseJennifer Morgan, Terence PartridgeDisease Models & Mechanisms 2020 13: dmm042192 doi: 10.1242/dmm.042192 Published 6 February 2020
Pavanello, Rita C. M.
- RESEARCH ARTICLEAltered in vitro muscle differentiation in X-linked myopathy with excessive autophagyStephanie 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 VainzofDisease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020
Perez-Siles, Gonzalo
- RESEARCH ARTICLEModelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCsGonzalo 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. KennersonDisease Models & Mechanisms 2020 13: dmm041541 doi: 10.1242/dmm.041541 Published 13 January 2020
Pirali, Tracey
- RESEARCH ARTICLEA luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathyCelia 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. GenazzaniDisease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019
Pokorny, Matous
- RESEARCH ARTICLELongitudinal study revealing motor, cognitive and behavioral decline in a transgenic minipig model of Huntington's diseaseMonika Baxa, Bozena Levinska, Monika Skrivankova, Matous Pokorny, Jana Juhasova, Jiri Klima, Jiri Klempir, Jan Motlı́k, Stefan Juhas, Zdenka EllederovaDisease Models & Mechanisms 2020 13: dmm041293 doi: 10.1242/dmm.041293 Published 12 December 2019
Potenzieri, Alberto
- RESEARCH ARTICLEA luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathyCelia 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. GenazzaniDisease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019
Q
Quattrocelli, Mattia
- RESEARCH ARTICLEA gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skippingAlexis R. Demonbreun, Eugene J. Wyatt, Katherine S. Fallon, Claire C. Oosterbaan, Patrick G. Page, Michele Hadhazy, Mattia Quattrocelli, David Y. Barefield, Elizabeth M. McNallyDisease Models & Mechanisms 2020 13: dmm040832 doi: 10.1242/dmm.040832 Published 4 November 2019
R
Radley-Crabb, Hannah G.
- REVIEWBiomarkers for Duchenne muscular dystrophy: myonecrosis, inflammation and oxidative stressMiranda D. Grounds, Jessica R. Terrill, Basma A. Al-Mshhdani, Marisa N. Duong, Hannah G. Radley-Crabb, Peter G. ArthurDisease Models & Mechanisms 2020 13: dmm043638 doi: 10.1242/dmm.043638 Published 2 March 2020
Raffa, Salvatore
- RESEARCH ARTICLEA luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathyCelia 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. GenazzaniDisease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019
Raue, Kristen D.
- RESEARCH ARTICLETemporal evolution of the microbiome, immune system and epigenome with disease progression in ALS miceClaudia 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. FeldmanDisease Models & Mechanisms 2020 13: dmm041947 doi: 10.1242/dmm.041947 Published 15 November 2019
Raz, Vered
- REVIEWMouse models for muscular dystrophies: an overviewMaaike van Putten, Erin M. Lloyd, Jessica C. de Greef, Vered Raz, Raffaella Willmann, Miranda D. GroundsDisease Models & Mechanisms 2020 13: dmm043562 doi: 10.1242/dmm.043562 Published 21 February 2020
Reano, Simone
- RESEARCH ARTICLEA luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathyCelia 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. GenazzaniDisease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019
Ritchie, Erin
- RESEARCH ARTICLEInteractions among ryanodine receptor isotypes contribute to muscle fiber type development and functionAlexis A. Chagovetz, Dana Klatt Shaw, Erin Ritchie, Kazuyuki Hoshijima, David J. GrunwaldDisease Models & Mechanisms 2020 13: dmm038844 doi: 10.1242/dmm.038844 Published 18 September 2019
Riva, Beatrice
- RESEARCH ARTICLEA luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathyCelia 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. GenazzaniDisease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019
Ruffinatti, Federico A.
- RESEARCH ARTICLEA luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathyCelia 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. GenazzaniDisease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019
Rumora, Amy E.
- RESEARCH ARTICLEIntegrated lipidomic and transcriptomic analyses identify altered nerve triglycerides in mouse models of prediabetes and type 2 diabetesPhillipe D. O'Brien, Kai Guo, Stephanie A. Eid, Amy E. Rumora, Lucy M. Hinder, John M. Hayes, Faye E. Mendelson, Junguk Hur, Eva L. FeldmanDisease Models & Mechanisms 2020 13: dmm042101 doi: 10.1242/dmm.042101 Published 24 January 2020
S
Sangaletti, Sabina
- RESEARCH ARTICLEA luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathyCelia 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. GenazzaniDisease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019
Savelieff, Masha G.
- RESEARCH ARTICLETemporal evolution of the microbiome, immune system and epigenome with disease progression in ALS miceClaudia 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. FeldmanDisease Models & Mechanisms 2020 13: dmm041947 doi: 10.1242/dmm.041947 Published 15 November 2019
Sedláčková, Miroslava
- RESEARCH ARTICLETransgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegenerationTaras Ardan, Monika Baxa, Božena Levinská, Miroslava Sedláčková, The Duong Nguyen, Jiří Klíma, Štefan Juhás, Jana Juhásová, Petra Šmatlíková, Petra Vochozková, Jan Motlík, Zdenka EllederováDisease Models & Mechanisms 2020 13: dmm041319 doi: 10.1242/dmm.041319 Published 12 December 2019
Sillitoe, Roy V.
- RESEARCH ARTICLEIn vivo cerebellar circuit function is disrupted in an mdx mouse model of Duchenne muscular dystrophyTrace L. Stay, Lauren N. Miterko, Marife Arancillo, Tao Lin, Roy V. SillitoeDisease Models & Mechanisms 2020 13: dmm040840 doi: 10.1242/dmm.040840 Published 9 December 2019
Silva, Helga C. A.
- RESEARCH ARTICLEAltered in vitro muscle differentiation in X-linked myopathy with excessive autophagyStephanie 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 VainzofDisease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020
Skrivankova, Monika
- RESEARCH ARTICLELongitudinal study revealing motor, cognitive and behavioral decline in a transgenic minipig model of Huntington's diseaseMonika Baxa, Bozena Levinska, Monika Skrivankova, Matous Pokorny, Jana Juhasova, Jiri Klima, Jiri Klempir, Jan Motlı́k, Stefan Juhas, Zdenka EllederovaDisease Models & Mechanisms 2020 13: dmm041293 doi: 10.1242/dmm.041293 Published 12 December 2019
Šmatlíková, Petra
- RESEARCH ARTICLETransgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegenerationTaras Ardan, Monika Baxa, Božena Levinská, Miroslava Sedláčková, The Duong Nguyen, Jiří Klíma, Štefan Juhás, Jana Juhásová, Petra Šmatlíková, Petra Vochozková, Jan Motlík, Zdenka EllederováDisease Models & Mechanisms 2020 13: dmm041319 doi: 10.1242/dmm.041319 Published 12 December 2019
Souza, Lucas S.
- RESEARCH ARTICLEAltered in vitro muscle differentiation in X-linked myopathy with excessive autophagyStephanie 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 VainzofDisease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020
Speck-Martins, Carlos E.
- RESEARCH ARTICLEModelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCsGonzalo 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. KennersonDisease Models & Mechanisms 2020 13: dmm041541 doi: 10.1242/dmm.041541 Published 13 January 2020
Stay, Trace L.
- RESEARCH ARTICLEIn vivo cerebellar circuit function is disrupted in an mdx mouse model of Duchenne muscular dystrophyTrace L. Stay, Lauren N. Miterko, Marife Arancillo, Tao Lin, Roy V. SillitoeDisease Models & Mechanisms 2020 13: dmm040840 doi: 10.1242/dmm.040840 Published 9 December 2019
Straub, Volker
- RESEARCH ARTICLEA comparison of the bone and growth phenotype of mdx, mdx:Cmah−/− and mdx:Utrn+/− murine models with the C57BL/10 wild-type mouseClaire L. Wood, Karla J. Suchacki, Rob van ’t Hof, Will P. Cawthorn, Scott Dillon, Volker Straub, Sze Choong Wong, Syed F. Ahmed, Colin FarquharsonDisease Models & Mechanisms 2020 13: dmm040659 doi: 10.1242/dmm.040659 Published 10 January 2020
- REVIEWImproving 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 LucaDisease Models & Mechanisms 2020 13: dmm042903 doi: 10.1242/dmm.042903 Published 7 February 2020
Suchacki, Karla J.
- RESEARCH ARTICLEA comparison of the bone and growth phenotype of mdx, mdx:Cmah−/− and mdx:Utrn+/− murine models with the C57BL/10 wild-type mouseClaire L. Wood, Karla J. Suchacki, Rob van ’t Hof, Will P. Cawthorn, Scott Dillon, Volker Straub, Sze Choong Wong, Syed F. Ahmed, Colin FarquharsonDisease Models & Mechanisms 2020 13: dmm040659 doi: 10.1242/dmm.040659 Published 10 January 2020
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Takata, Reinaldo I.
- RESEARCH ARTICLEModelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCsGonzalo 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. KennersonDisease Models & Mechanisms 2020 13: dmm041541 doi: 10.1242/dmm.041541 Published 13 January 2020
Tasaki, Letícia Y.
- RESEARCH ARTICLEAltered in vitro muscle differentiation in X-linked myopathy with excessive autophagyStephanie 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 VainzofDisease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020
Taubman, Ghislaine F.
- RESEARCH ARTICLETemporal evolution of the microbiome, immune system and epigenome with disease progression in ALS miceClaudia 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. FeldmanDisease Models & Mechanisms 2020 13: dmm041947 doi: 10.1242/dmm.041947 Published 15 November 2019
Terrill, Jessica R.
- REVIEWBiomarkers for Duchenne muscular dystrophy: myonecrosis, inflammation and oxidative stressMiranda D. Grounds, Jessica R. Terrill, Basma A. Al-Mshhdani, Marisa N. Duong, Hannah G. Radley-Crabb, Peter G. ArthurDisease Models & Mechanisms 2020 13: dmm043638 doi: 10.1242/dmm.043638 Published 2 March 2020
Thielemans, Leen
- SPECIAL ARTICLETranslational medicine in neuromuscular disorders: from academia to industryBelinda S. Cowling, Leen ThielemansDisease Models & Mechanisms 2020 13: dmm041434 doi: 10.1242/dmm.041434 Published 24 October 2019
Turner, Cathy
- REVIEWImproving 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 LucaDisease Models & Mechanisms 2020 13: dmm042903 doi: 10.1242/dmm.042903 Published 7 February 2020
U
Uesugi, Motonari
- RESEARCH ARTICLEModelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCsGonzalo 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. KennersonDisease Models & Mechanisms 2020 13: dmm041541 doi: 10.1242/dmm.041541 Published 13 January 2020
V
Vainzof, Mariz
- RESEARCH ARTICLEAltered in vitro muscle differentiation in X-linked myopathy with excessive autophagyStephanie 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 VainzofDisease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020
van ’t Hof, Rob
- RESEARCH ARTICLEA comparison of the bone and growth phenotype of mdx, mdx:Cmah−/− and mdx:Utrn+/− murine models with the C57BL/10 wild-type mouseClaire L. Wood, Karla J. Suchacki, Rob van ’t Hof, Will P. Cawthorn, Scott Dillon, Volker Straub, Sze Choong Wong, Syed F. Ahmed, Colin FarquharsonDisease Models & Mechanisms 2020 13: dmm040659 doi: 10.1242/dmm.040659 Published 10 January 2020
van Putten, Maaike
- SPECIAL ARTICLEThe use of genetically humanized animal models for personalized medicine approachesAnnemieke Aartsma-Rus, Maaike van PuttenDisease Models & Mechanisms 2020 13: dmm041673 doi: 10.1242/dmm.041673 Published 1 October 2019
- REVIEWMouse models for muscular dystrophies: an overviewMaaike van Putten, Erin M. Lloyd, Jessica C. de Greef, Vered Raz, Raffaella Willmann, Miranda D. GroundsDisease Models & Mechanisms 2020 13: dmm043562 doi: 10.1242/dmm.043562 Published 21 February 2020
- EDITORIALMoving neuromuscular disorders research forward: from novel models to clinical studiesMaaike van Putten, Julija Hmeljak, Annemieke Aartsma-Rus, James J. DowlingDisease Models & Mechanisms 2020 13: dmm044370 doi: 10.1242/dmm.044370 Published 25 February 2020
Vochozková, Petra
- RESEARCH ARTICLETransgenic minipig model of Huntington's disease exhibiting gradually progressing neurodegenerationTaras Ardan, Monika Baxa, Božena Levinská, Miroslava Sedláčková, The Duong Nguyen, Jiří Klíma, Štefan Juhás, Jana Juhásová, Petra Šmatlíková, Petra Vochozková, Jan Motlík, Zdenka EllederováDisease Models & Mechanisms 2020 13: dmm041319 doi: 10.1242/dmm.041319 Published 12 December 2019
W
Wagner, Kathryn R.
- REVIEWImproving 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 LucaDisease Models & Mechanisms 2020 13: dmm042903 doi: 10.1242/dmm.042903 Published 7 February 2020
Wells, Dominic J.
- REVIEWImproving 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 LucaDisease Models & Mechanisms 2020 13: dmm042903 doi: 10.1242/dmm.042903 Published 7 February 2020
Willmann, Raffaella
- REVIEWImproving 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 LucaDisease Models & Mechanisms 2020 13: dmm042903 doi: 10.1242/dmm.042903 Published 7 February 2020
- REVIEWMouse models for muscular dystrophies: an overviewMaaike van Putten, Erin M. Lloyd, Jessica C. de Greef, Vered Raz, Raffaella Willmann, Miranda D. GroundsDisease Models & Mechanisms 2020 13: dmm043562 doi: 10.1242/dmm.043562 Published 21 February 2020
Wong, Sze Choong
- RESEARCH ARTICLEA comparison of the bone and growth phenotype of mdx, mdx:Cmah−/− and mdx:Utrn+/− murine models with the C57BL/10 wild-type mouseClaire L. Wood, Karla J. Suchacki, Rob van ’t Hof, Will P. Cawthorn, Scott Dillon, Volker Straub, Sze Choong Wong, Syed F. Ahmed, Colin FarquharsonDisease Models & Mechanisms 2020 13: dmm040659 doi: 10.1242/dmm.040659 Published 10 January 2020
Wood, Claire L.
- RESEARCH ARTICLEA comparison of the bone and growth phenotype of mdx, mdx:Cmah−/− and mdx:Utrn+/− murine models with the C57BL/10 wild-type mouseClaire L. Wood, Karla J. Suchacki, Rob van ’t Hof, Will P. Cawthorn, Scott Dillon, Volker Straub, Sze Choong Wong, Syed F. Ahmed, Colin FarquharsonDisease Models & Mechanisms 2020 13: dmm040659 doi: 10.1242/dmm.040659 Published 10 January 2020
Wyatt, Eugene J.
- RESEARCH ARTICLEA gene-edited mouse model of limb-girdle muscular dystrophy 2C for testing exon skippingAlexis R. Demonbreun, Eugene J. Wyatt, Katherine S. Fallon, Claire C. Oosterbaan, Patrick G. Page, Michele Hadhazy, Mattia Quattrocelli, David Y. Barefield, Elizabeth M. McNallyDisease Models & Mechanisms 2020 13: dmm040832 doi: 10.1242/dmm.040832 Published 4 November 2019
Y
Yamamoto, Guilherme L.
- RESEARCH ARTICLEAltered in vitro muscle differentiation in X-linked myopathy with excessive autophagyStephanie 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 VainzofDisease Models & Mechanisms 2020 13: dmm041244 doi: 10.1242/dmm.041244 Published 10 January 2020
Z
Zaggia, Ivan
- RESEARCH ARTICLEA luminal EF-hand mutation in STIM1 in mice causes the clinical hallmarks of tubular aggregate myopathyCelia 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. GenazzaniDisease Models & Mechanisms 2020 13: dmm041111 doi: 10.1242/dmm.041111 Published 3 December 2019
This issue

- 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 - 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 - 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 - 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 - 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
Other journals from The Company of Biologists
DMM and COVID-19
We are aware that the COVID-19 pandemic is having an unprecedented impact on researchers worldwide. The Editors of all The Company of Biologists’ journals have been considering ways in which we can alleviate concerns that members of our community may have around publishing activities during this time. Read about the actions we are taking at this time.
Please don’t hesitate to contact the Editorial Office if you have any questions or concerns.
Professor Elizabeth Patton appointed as DMM’s next Editor-in-Chief
We are pleased to announce that The Company of Biologists directors have appointed Professor Elizabeth Patton as DMM's new Editor-in-Chief. As Paresh Vyas writes in his Editorial, Liz ‘brings vitality and a passion for the remit of DMM, and is deeply embedded in the community.’
Did you know DMM Conference Travel Grants can be used for online meetings?
With travel restrictions still in place, we want to continue supporting early-career researchers in their careers. DMM’s Conference Travel Grants can now be used to attend virtual and online scientific meetings, workshops, conferences and training courses.
The current application round closes on 8 February 2021 – find out more.
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.