Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Maher S. Budron"'
Autor:
Maher S. Budron, Christopher Grunseich, Robert D. Guber, Alice B. Schindler, Yuebing Li, Ke-lian Chen, Kenneth H. Fischbeck
Publikováno v:
Annals of Clinical and Translational Neurology
Amyotrophic lateral sclerosis 8 (ALS8) is a rare progressive neurodegenerative disease resulting from mutation in the gene for vesicle‐associated membrane protein‐associated protein B. We evaluated a North American patient using exome sequencing,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e03ce3849789142ce04d6fabca36904
https://doi.org/10.1002/acn3.515
https://doi.org/10.1002/acn3.515
Autor:
Christopher Grunseich, Ram Miller, Therese Swan, David J Glass, Mohamed El Mouelhi, Mara Fornaro, Olivier Petricoul, Igor Vostiar, Ronenn Roubenoff, Matthew N Meriggioli, Angela Kokkinis, Robert D Guber, Maher S Budron, John Vissing, Gianni Soraru, Tahseen Mozaffar, Albert Ludolph, John T Kissel, Kenneth H Fischbeck, Julia Dahlqvist, Nanna Witting, Ilaria Martinelli, Giorgia Querin, Namita A Goyal, Tiyonnoh M Cash, Brian Minton, Angela Rosenbohm, Ulrike Weiland, Patrick Weydt, Sharon Chelnick, Stanley Iyadurai, Wendy King
Publikováno v:
The Lancet. Neurology. 17(12)
Summary Background Spinal and bulbar muscular atrophy is an X-linked neuromuscular disease caused by CAG repeat expansion in the androgen receptor gene. Patients with this disease have low concentrations of insulin-like growth factor-1 (IGF-1), and s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9881dd84f555fcde41505704071e3d8e
https://pubmed.ncbi.nlm.nih.gov/30337274
https://pubmed.ncbi.nlm.nih.gov/30337274