PMC Articles for MedGen (Select 1683288) - PMC

Select item 115318451.

Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis

Julian Theuriet, Marion Masingue, Anthony Behin, Ana Ferreiro, Guillaume Bassez, Pauline Jaubert, Oriana Tarabay, Frédéric Fer, Antoine Pegat, Françoise Bouhour, Juliette Svahn, Philippe Petiot, Laurentiu Jomir, Guy Chauplannaz, Catherine Cornut-Chauvinc, Véronique Manel, Emmanuelle Salort-Campana, Shahram Attarian, Etienne Fortanier, Annie Verschueren, Ludivine Kouton, Jean-Philippe Camdessanché, Céline Tard, Armelle Magot, Yann Péréon, Jean-Baptiste Noury, Marie-Christine Minot-Myhie, Maud Perie, Frederic Taithe, Yacine Farhat, Anne-Laure Millet, Pascal Cintas, Guilhem Solé, Marco Spinazzi, Florence Esselin, Dimitri Renard, Sabrina Sacconi, Andra Ezaru, Edoardo Malfatti, Martial Mallaret, Laurent Magy, Eva Diab, Philippe Merle, Maud Michaud, Maxime Fournier, Aleksandra Nadaj Pakleza, Jean-Baptiste Chanson, Claire Lefeuvre, Pascal Laforet, Pascale Richard, Damien Sternberg, Rocio-Nur Villar-Quiles, Tanya Stojkovic, Bruno Eymard

Brain. 2024 Nov; 147(11): 3849–3862. Published online 2024 May 2. doi: 10.1093/brain/awae124

PMCID:: PMC11531845

Article PDF–734K

Select item 111719582.

Congenital LMNA-Related Muscular Dystrophy in Paediatrics: Cardiac Management in Monozygotic Twins

Patricia Martínez Olorón, Iosune Alegría, Sergi Cesar, Bernat del Olmo, Estefanía Martínez-Barrios, Laura Carrera-García, Daniel Natera-de Benito, Andrés Nascimento, Oscar Campuzano, Georgia Sarquella-Brugada

Int J Mol Sci. 2024 Jun; 25(11): 5836. Published online 2024 May 27. doi: 10.3390/ijms25115836

PMCID:: PMC11171958

Article PDF–3.2M

Select item 99610563.

Clinical and Pathologic Features of Congenital Myasthenic Syndromes Caused by 35 Genes—A Comprehensive Review

Kinji Ohno, Bisei Ohkawara, Xin-Ming Shen, Duygu Selcen, Andrew G. Engel

Int J Mol Sci. 2023 Feb; 24(4): 3730. Published online 2023 Feb 13. doi: 10.3390/ijms24043730

PMCID:: PMC9961056

Article PDF–3.3M

Select item 98085584.

Rapid genome sequencing identifies a novel de novo SNAP25 variant for neonatal congenital myasthenic syndrome

Hayley M. Reynolds, Ting Wen, Andrew Farrell, Rong Mao, Barry Moore, Steven E. Boyden, Pinar Bayrak-Toydemir, Thomas J. Nicholas, Shawn Rynearson, Carson Holt, Christine Miller, Katherine Noble, Dawn Bentley, Rachel Palmquist, Betsy Ostrander, Stephanie Manberg, Joshua L. Bonkowsky, Brian J. Shayota, Sabrina Malone Jenkins

Cold Spring Harb Mol Case Stud. 2022 Dec; 8(7): a006242. doi: 10.1101/mcs.a006242

PMCID:: PMC9808558

Article PDF–5.4M

Select item 68974855.

A homozygous mutation in GMPPB leads to centronuclear myopathy with combined pre- and postsynaptic defects of neuromuscular transmission

Stefan Nicolau, Teerin Liewluck, Xin-Ming Shen, Duygu Selcen, Andrew G. Engel, Margherita Milone

Neuromuscul Disord. Author manuscript; available in PMC 2020 Aug 1.

Published in final edited form as: Neuromuscul Disord. 2019 Aug; 29(8): 614–617. Published online 2019 Jul 5. doi: 10.1016/j.nmd.2019.07.001

PMCID:: PMC6897485

Article PDF–433K

Select item 58009776.

The unfolding landscape of the congenital myasthenic syndromes

Andrew G. Engel, Xin-Ming Shen, Duygu Selcen

Ann N Y Acad Sci. Author manuscript; available in PMC 2019 Feb 1.

Published in final edited form as: Ann N Y Acad Sci. 2018 Feb; 1413(1): 25–34. Published online 2018 Jan 21. doi: 10.1111/nyas.13539

PMCID:: PMC5800977

Article PDF–1.1M

Select item 56422987.

Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect

Yiran Guo, Minal Menezes, Manoj Menezes, Jinlong Liang, Dong Li, Lisa G Riley, Nigel F Clarke, P. Ian Andrews, Lifeng Tian, Richard Webster, Fengxiang Wang, Xuanzhu Liu, Yulan Shen, David R Thorburn, Brendan J Keating, Andrew Engel, Hakon Hakonarson, John Christodoulou, Xun Xu

Neuromuscul Disord. Author manuscript; available in PMC 2017 Oct 16.

Published in final edited form as: Neuromuscul Disord. 2015 Mar; 25(3): 257–261. Published online 2014 Dec 10. doi: 10.1016/j.nmd.2014.11.017

PMCID:: PMC5642298

Article PDF–380K

Select item 52559608.

Limb girdle myasthenia with digenic RAPSN and a novel disease gene AK9 mutations

Ching-Wan Lam, Ka-Sing Wong, Ho-Wan Leung, Chun-Yiu Law

Eur J Hum Genet. 2017 Feb; 25(2): 192–199. Published online 2016 Dec 14. doi: 10.1038/ejhg.2016.162

PMCID:: PMC5255960

Article PDF–2.2M

Select item 50557179.

A rare c.183_187dupCTCAC mutation of the acetylcholine receptor CHRNE gene in a South Asian female with congenital myasthenic syndrome: a case report

Thashi Chang, Judith Cossins, David Beeson

BMC Neurol. 2016; 16: 195. Published online 2016 Oct 7. doi: 10.1186/s12883-016-0716-y

PMCID:: PMC5055717

Article PDF–530K

Select item 484378010.

GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation

Braden S. Jensen, Tobias Willer, Dimah N. Saade, Mary O. Cox, Tahseen Mozaffar, Mena Scavina, Vikki A. Stefans, Thomas L. Winder, Kevin P. Campbell, Steven A. Moore, Katherine D. Mathews

Hum Mutat. Author manuscript; available in PMC 2016 Dec 1.

Published in final edited form as: Hum Mutat. 2015 Dec; 36(12): 1159–1163. Published online 2015 Sep 23. doi: 10.1002/humu.22898