PMC Articles for MedGen (Select 812299) - PMC

Select item 89685321.

Late adult-onset spinal muscular atrophy with lower extremity predominance (SMALED)

Iqra Aziz, Mark Davis, Christina Liang

BMJ Case Rep. 2022; 15(3): e248297. Published online 2022 Mar 29. doi: 10.1136/bcr-2021-248297

PMCID:: PMC8968532

Select item 68510432.

Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations

N. C. Voermans, R. C. van der Bilt, J. IJspeert, J. Y. Hogrel, M. Jeanpierre, A. Behin, P. Laforet, T. Stojkovic, B. G. van Engelen, G. W. Padberg, S. Sacconi, R. J. L. F. Lemmers, S. M. van der Maarel, B. Eymard, G. Bassez

J Neurol. 2019; 266(12): 2987–2996. Published online 2019 Aug 31. doi: 10.1007/s00415-019-09494-8

PMCID:: PMC6851043

Abstract Article PDF–775K

Select item 62056883.

The clinical spectrum of CASQ1-related myopathy

Claudio Semplicini, Cinzia Bertolin, Luca Bello, Boris Pantic, Francesca Guidolin, Sara Vianello, Francesco Catapano, Irene Colombo, Maurizio Moggio, Bruno F. Gavassini, Giovanna Cenacchi, Valentina Papa, Marco Previtero, Chiara Calore, Gianni Sorarù, Giovanni Minervini, Silvio C.E. Tosatto, Roberto Stramare, Elena Pegoraro

Neurology. 2018 Oct 23; 91(17): e1629–e1641. doi: 10.1212/WNL.0000000000006387

PMCID:: PMC6205688

Abstract Article PDF–1.3M

Select item 44614564.

Association of a Novel ACTA1 Mutation With a Dominant Progressive Scapuloperoneal Myopathy in an Extended Family

Kristen Zukosky, Katherine Meilleur, Bryan J. Traynor, Jahannaz Dastgir, Livija Medne, Marcella Devoto, James Collins, Jachinta Rooney, Yaqun Zou, Michele L. Yang, J. Raphael Gibbs, Markus Meier, Joerg Stetefeld, Richard S. Finkel, Joachim Schessl, Lauren Elman, Kevin Felice, Toby A. Ferguson, Ozge Ceyhan-Birsoy, Alan H. Beggs, Gihan Tennekoon, Janel O. Johnson, Carsten G. Bönnemann

JAMA Neurol. Author manuscript; available in PMC 2016 Jun 1.

Published in final edited form as: JAMA Neurol. 2015 Jun 1; 72(6): 689–698. doi: 10.1001/jamaneurol.2015.37

Correction in:: JAMA Neurol. 2015 Aug; 72(8): 950.

PMCID:: PMC4461456

Abstract Article PDF–1.7M

Select item 41538505.

Clinical Reasoning: A 52-year-old woman with progressive proximal weakness

Sailaja Enduri, Matthew R.G. Taylor, Teerin Liewluck

Neurology. 2014 Sep 2; 83(10): e106–e109. doi: 10.1212/WNL.0000000000000757

PMCID:: PMC4153850

Abstract Article PDF–298K

Select item 41083956.

Novel TCAP Mutation c.32C>A Causing Limb Girdle Muscular Dystrophy 2G

Amirtharaj Francis, Balaraju Sunitha, Kandavalli Vinodh, Kiran Polavarapu, Shiva Krishna Katkam, Sailesh Modi, M. M. Srinivas Bharath, Narayanappa Gayathri, Atchayaram Nalini, Kumarasamy Thangaraj

PLoS One. 2014; 9(7): e102763. Published online 2014 Jul 23. doi: 10.1371/journal.pone.0102763

PMCID:: PMC4108395

Abstract Article PDF–2.5M

Select item 38519427.

Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2

Satomi Mitsuhashi, Steven E Boyden, Elicia A Estrella, Takako I Jones, Fedik Rahimov, Timothy W Yu, Basil T Darras, Anthony A Amato, Rebecca D Folkerth, Peter L Jones, Louis M Kunkel, Peter B Kang

Neuromuscul Disord. Author manuscript; available in PMC 2014 Dec 1.

Published in final edited form as: Neuromuscul Disord. 2013 Dec; 23(12): 10.1016/j.nmd.2013.08.009. Published online 2013 Aug 31. doi: 10.1016/j.nmd.2013.08.009

PMCID:: PMC3851942

Abstract Article PDF–1.5M

Select item 29126948.

Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies

Magdalena Zimoń, Jonathan Baets, Michaela Auer-Grumbach, José Berciano, Antonio Garcia, Eduardo Lopez-Laso, Luciano Merlini, David Hilton-Jones, Meriel McEntagart, Andrew H. Crosby, Nina Barisic, Eugen Boltshauser, Christopher E. Shaw, Guida Landouré, Christy L. Ludlow, Rachelle Gaudet, Henry Houlden, Mary M. Reilly, Kenneth H. Fischbeck, Charlotte J. Sumner, Vincent Timmerman, Albena Jordanova, Peter De Jonghe

Brain. 2010 Jun; 133(6): 1798–1809. Published online 2010 May 11. doi: 10.1093/brain/awq109

PMCID:: PMC2912694

Abstract Article PDF–497K

Select item 25925119.

Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient

Montse Olivé, Alexey Shatunov, Laura Gonzalez, Olga Carmona, Dolores Moreno, Lidia Gonzalez Quereda, J.A. Martinez-Matos, Lev G. Goldfarb, Isidro Ferrer

Neuromuscul Disord. Author manuscript; available in PMC 2008 Dec 1.

Published in final edited form as: Neuromuscul Disord. 2008 Dec; 18(12): 929–933. Published online 2008 Oct 22. doi: 10.1016/j.nmd.2008.07.009

PMCID:: PMC2592511

Abstract Article PDF–585K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 9

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity