CarlaMargaretGrosmannMD

PubMed

• The recurrent deep intronic pseudoexon-inducing variantc.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readin...
  A Reghan Foley, Véronique Bolduc, Fady Guirguis, Sandra Donkervoort, Ying Hu, Rotem Orbach, Riley M McCarty, Apurva Sarathy, Gina Norato, Beryl B Cummings, Monkol Lek,...> ;Medrxiv. 2024 Mar 29
• Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
  Ana Töpf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese...> ;Nature Genetics. 2024 Mar 1
• 30 citations
  Making sense of missense variants in TTN-related congenital myopathies
  Martin Rees, Roksana Nikoopour, Atsushi Fukuzawa, Ay Lin Kho, Miguel A Fernandez-Garcia, Elizabeth Wraige, Istvan Bodi, Charu Deshpande, Özkan Özdemir, Hülya-Sevcan Da...> ;Acta Neuropathologica. 2021 Jan 15
• 24 citations
  Recurrent TTN metatranscript‐only c.39974‐11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy
  Samantha J. Bryen, Lisa Ewans, Jason Pinner, Suzanna C. MacLennan, Sandra Donkervoort, Diana Castro, Ana Töpf, Gina L. O'Grady, Beryl B. Cummings, Katherine R. Chao, B...> ;Human Mutation. 2020 Feb 1
• 11 citations
  Clinical, genetic, and pathologic characterization of FKRP Mexican founder mutation c.1387A>G.
  Angela J. Lee, Karra A. Jones, Russell J. Butterfield, Mary O. Cox, Chamindra G. Konersman, Carla Grosmann, Jose E. Abdenur, Monica Boyer, Brent Beson, Ching Wang, Jam...> ;Neurology. Genetics. 2019 Mar 1
• 76 citations
  Congenital Titinopathy: Comprehensive characterization and pathogenic insights.
  Emily C. Oates, Kristi J. Jones, Sandra Donkervoort, Amanda Charlton, Susan Brammah, John E. Smith, James S. Ware, Kyle S. Yau, Lindsay C. Swanson, Nicola Whiffin, Ant...> ;Annals of Neurology. 2018 Jun 1
• 5 citations
  Bone health in facioscapulohumeral muscular dystrophy: A cross-sectional study.
  Hema Chagarlamudi, Alastair Corbett, Marion Stoll, Genila Bibat, Carla Grosmann, Carly Matichak Stock, Nikia Stinson, Jay R. Shapiro, Kathryn R. Wagner> ;Muscle & Nerve. 2017 Dec 1
• 8 citations
  Pneumothoraces in collagen VI-related dystrophy: a case series and recommendations for management.
  Kristin Fraser, Scott Wong, A. Reghan Foley, Sameer Chhibber, Carsten G. Bönnemann, Daniel J. Lesser, Carla Grosmann, Anne Rutkowski> ;ERJ Open Research. 2017 Apr 1
• 32 citations
  Validity of the 6 minute walk test in facioscapulohumeral muscular dystrophy
  Katy Eichinger, Chad Heatwole, Susanne Heininger, Nikia Stinson, Carly Matichak Stock, Carla Grosmann, Kathryn R. Wagner, Rabi Tawil, Jeffrey Statland> ;Muscle & Nerve. 2017 Mar 1
• 178 citations
  The Role of PIEZO2 in Human Mechanosensation
  Alexander T. Chesler, Marcin Szczot, Diana Bharucha-Goebel, Marta Ceko, Sandra Donkervoort, Claire Laubacher, Leslie H. Hayes, Katharine E. Alter, Cristiane Zampieri, ...> ;The New England Journal of Medicine. 2016 Sep 21
• 157 citations
  Mutations in GDP-mannose pyrophosphorylase b cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan
  Keren J. Carss, Elizabeth Stevens, A. Reghan Foley, Sebahattin Cirak, Moniek Riemersma, Silvia Torelli, Alexander Hoischen, Tobias Willer, Monique van Scherpenzeel, St...> ;American Journal of Human Genetics. 2013 Jul 11
• 54 citations
  Novel LMNA mutations in patients with Emery‐Dreifuss muscular dystrophy and functional characterization of four LMNA mutations
  Juergen Scharner, Charlotte A. Brown, Matthew Bower, Susan T. Iannaccone, Ismail A. Khatri, Diana M. Escolar, Erynn S. Gordon, Kevin J. Felice, Carol A. Crowe, Carla G...> ;Human Mutation. 2011 Feb 1
• 94 citations
  Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.
  Charlotte A. Brown, Robert W. Lanning, Kimberly Q. McKinney, Ann R. Salvino, Elizabeth M. Cherniske, Carol A. Crowe, Basil T. Darras, Stasha Gominak, Cheryl R. Greenbe...> ;American Journal of Medical Genetics. 2001 Sep 1
• 46 citations
  Follow-up study of risk factors in progressive supranuclear palsy
  Lawrence I. Golbe, R. S. Rubin, Ronald P. Cody, Jerry M. Belsh, Roger C. Duvoisin, C. Grosmann, Frederick E. Lepore, Margery H. Mark, R. Sachdeo, Jacob I. Sage, T. R. ...> ;Neurology. 1996 Jul 1
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