PMC Articles for MedGen (Select 815639) - PMC

Select item 88427571.

A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort

Andre Megarbane, Sami Bizzari, Asha Deepthi, Sandra Sabbagh, Hicham Mansour, Eliane Chouery, Ghassan Hmaimess, Rosette Jabbour, Cybel Mehawej, Saada Alame, Abeer Hani, Dana Hasbini, Ismat Ghanem, Salam Koussa, Mahmoud Taleb Al-Ali, Marc Obeid, Diana Bou Talea, Gerard Lefranc, Nicolas Lévy, France Leturcq, Stephany El Hayek, Valérie Delague, J. Andoni Urtizberea

J Neuromuscul Dis. 2022; 9(1): 193–210. Prepublished online 2021 Sep 24. Published online 2022 Jan 4. doi: 10.3233/JND-210652

PMCID:: PMC8842757

Article PDF–779K

Select item 79152592.

Genetic Modifiers of Hereditary Neuromuscular Disorders and Cardiomyopathy

Sholeh Bazrafshan, Hani Kushlaf, Mashhood Kakroo, John Quinlan, Richard C. Becker, Sakthivel Sadayappan

Cells. 2021 Feb; 10(2): 349. Published online 2021 Feb 8. doi: 10.3390/cells10020349

PMCID:: PMC7915259

Article PDF–589K

Select item 68594113.

The first Portuguese family with NEFL-related Charcot-Marie-Tooth type 2 disease

RITA MACHADO, JORGE PINTO-BASTO, LUÍS NEGRÃO

Acta Myol. 2019 Sep; 38(3): 180–183. Published online 2019 Sep 1.

PMCID:: PMC6859411

Article PDF–242K

Select item 55625604.

Intermediate Charcot-Marie-Tooth disease

Lei Liu, Ruxu Zhang

Neurosci Bull. 2014 Dec; 30(6): 999–1009. Published online 2014 Oct 17. doi: 10.1007/s12264-014-1475-7

PMCID:: PMC5562560

Article PDF–394K

Select item 39834075.

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease

Hamid Azzedine, Petra Zavadakova, Violaine Planté-Bordeneuve, Maria Vaz Pato, Nuno Pinto, Luca Bartesaghi, Jennifer Zenker, Olivier Poirot, Nathalie Bernard-Marissal, Estelle Arnaud Gouttenoire, Romain Cartoni, Alexandra Title, Giulia Venturini, Jean-Jacques Médard, Edward Makowski, Ludger Schöls, Kristl G. Claeys, Claudia Stendel, Andreas Roos, Joachim Weis, Odile Dubourg, José Leal Loureiro, Giovanni Stevanin, Gérard Said, Anthony Amato, Jay Baraban, Eric LeGuern, Jan Senderek, Carlo Rivolta, Roman Chrast

Hum Mol Genet. 2013 Oct 15; 22(20): 4224–4232. Published online 2013 Jun 17. doi: 10.1093/hmg/ddt274

PMCID:: PMC3983407

Article PDF–1.2M

Select item 37281516.

Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot-Marie-Tooth disease

Hyeon Jin Kim, Young Bin Hong, Jin-Mo Park, Yu-Ri Choi, Ye Jin Kim, Bo Ram Yoon, Heasoo Koo, Jeong Hyun Yoo, Sang Beom Kim, Minhwa Park, Ki Wha Chung, Byung-Ok Choi

Orphanet J Rare Dis. 2013; 8: 104. Published online 2013 Jul 12. doi: 10.1186/1750-1172-8-104

PMCID:: PMC3728151

Article PDF–2.9M

Select item 35482537.

A novel LRSAM1 mutation is associated with autosomal dominant axonal Charcot-Marie-Tooth disease

Paschalis Nicolaou, Carlo Cianchetti, Anna Minaidou, Giovanni Marrosu, Eleni Zamba-Papanicolaou, Lefkos Middleton, Kyproula Christodoulou

Eur J Hum Genet. 2013 Feb; 21(2): 190–194. Published online 2012 Jul 11. doi: 10.1038/ejhg.2012.146

PMCID:: PMC3548253

Article PDF–949K

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