Publications:

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

Journal Of Neuromuscular Diseases

Megarbane, Andre A; Bizzari, Sami S; Deepthi, Asha A; Sabbagh, Sandra S; Mansour, Hicham H; Chouery, Eliane E; Hmaimess, Ghassan G; Jabbour, Rosette R; Mehawej, Cybel C; Alame, Saada S; Hani, Abeer A; Hasbini, Dana D; Ghanem, Ismat I; Koussa, Salam S; Al-Ali, Mahmoud Taleb MT; Obeid, Marc M; Talea, Diana Bou DB; Lefranc, Gerard G; Lévy, Nicolas N; Leturcq, France F; El Hayek, Stephany S; Delague, Valérie V; Urtizberea, J Andoni JA

Publication Date: 2022

Variant appearance in text: SMA: 549del

PubMed Link: 34602496

Variant Present in the following documents:

• Main text
• jnd-9-jnd210652.pdf

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Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development.

International Journal Of Molecular Sciences

Butchbach, Matthew E R MER

Publication Date: 2021-07-23

Variant appearance in text: SMA: 549delC

PubMed Link: 34360669

Variant Present in the following documents:

• Main text
• ijms-22-07896.pdf

View BVdb publication page