PMC Articles for MedGen (Select 892749) - PMC

Select item 73971871.

Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features

Magdalena Mroczek, Hacer Durmus, Ana Töpf, Yesim Parman, Volker Straub

Genes (Basel) 2020 Jul; 11(7): 716. Published online 2020 Jun 27. doi: 10.3390/genes11070716

PMCID:: PMC7397187

Abstract Article PDF–1.7M

Select item 67935302.

Presynaptic Calcium/Calmodulin-Dependent Protein Kinase II Regulates Habituation of a Simple Reflex in AdultDrosophila

Ping Jin, Leslie C. Griffith, R. K. Murphey

J Neurosci. 1998 Nov 1; 18(21): 8955–8964. doi: 10.1523/JNEUROSCI.18-21-08955.1998

PMCID:: PMC6793530

Abstract Article PDF–471K

Select item 63905663.

Congenital myasthenic syndromes

Josef Finsterer

Orphanet J Rare Dis. 2019; 14: 57. Published online 2019 Feb 26. doi: 10.1186/s13023-019-1025-5

PMCID:: PMC6390566

Abstract Article PDF–1.0M

Select item 57359004.

Novel SEA and LG2 Agrin mutations causing congenital Myasthenic syndrome

Jianying Xi, Chong Yan, Wei-Wei Liu, Kai Qiao, Jie Lin, Xia Tian, Hui Wu, Jiahong Lu, Lee-Jun Wong, David Beeson, Chongbo Zhao

Orphanet J Rare Dis. 2017; 12: 182. Published online 2017 Dec 19. doi: 10.1186/s13023-017-0732-z

PMCID:: PMC5735900

Abstract Article PDF–724K

Select item 45470525.

Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies

Katsiaryna Belaya, Pedro M. Rodríguez Cruz, Wei Wei Liu, Susan Maxwell, Simon McGowan, Maria E. Farrugia, Richard Petty, Timothy J. Walls, Maryam Sedghi, Keivan Basiri, Wyatt W. Yue, Anna Sarkozy, Marta Bertoli, Matthew Pitt, Robin Kennett, Andrew Schaefer, Kate Bushby, Matt Parton, Hanns Lochmüller, Jacqueline Palace, Francesco Muntoni, David Beeson

Brain. 2015 Sep; 138(9): 2493–2504. Published online 2015 Jul 1. doi: 10.1093/brain/awv185

PMCID:: PMC4547052

Abstract Article PDF–788K

Select item 3107496.

Impaired neuromuscular transmission and skeletal muscle fiber necrosis in mice lacking Na/Ca exchanger 3

Sophie Sokolow, Mario Manto, Philippe Gailly, Jordi Molgó, Clarisse Vandebrouck, Jean-Marie Vanderwinden, Andre Herchuelz, Stéphane Schurmans

J Clin Invest. 2004 Jan 15; 113(2): 265–273. doi: 10.1172/JCI18688

PMCID:: PMC310749

Abstract Article PDF–3.8M

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