PMC Articles for MedGen (Select 1800449) - PMC

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Items: 3

Select item 90375551.

The spectrum of neurodevelopmental, neuromuscular and neurodegenerative disorders due to defective autophagy

Celine Deneubourg, Mauricio Ramm, Luke J. Smith, Olga Baron, Kritarth Singh, Susan C. Byrne, Michael R. Duchen, Mathias Gautel, Eeva-Liisa Eskelinen, Manolis Fanto, Heinz Jungbluth

Autophagy. 2022; 18(3): 496–517. Published online 2021 Aug 19. doi: 10.1080/15548627.2021.1943177

PMCID:: PMC9037555

Abstract Article PDF–2.0M

Select item 88427572.

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

Abstract Article PDF–779K

Select item 42084623.

A novel mutation in VCP causes Charcot–Marie–Tooth Type 2 disease

Michael A. Gonzalez, Shawna M. Feely, Fiorella Speziani, Alleene V. Strickland, Matt Danzi, Chelsea Bacon, Youjin Lee, Tsui-Fen Chou, Susan H. Blanton, Conrad C. Weihl, Stephan Zuchner, Michael E. Shy

Brain. 2014 Nov; 137(11): 2897–2902. Published online 2014 Aug 14. doi: 10.1093/brain/awu224