The Clinical Outcome Study for dysferlinopathy: An international multicenter study

Autor: Carmen Paradas, K. Bettinson, Andrew M. Blamire, Michelle Eagle, Kristi J. Jones, J. R. Mendell, M. James, Shin'ich Takeda, Avital Cnaan, Olivia Schreiber-Katz, Fiona E. Smith, Claudio Semplicini, Pierre G. Carlier, Emmanuelle Salort-Campana, John W. Day, U. Moore, Alan Pestronk, Maggie C. Walter, E. Harris, Jordi Díaz-Manera, Anna Mayhew, Catherine L. Bladen, Diana Bharucha-Goebel, Laura E. Rufibach, Tanya Stojkovic, Kate Bushby, Matthew B. Harms, Ulrike Grieben, Madoka Mori-Yoshimura, Volker Straub, Hanns Lochmüller, Elena Bravver, Carolina Tesi Rocha, Elena Pegoraro, Simone Spuler

Publikováno v: Neurology-Genetics
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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Objective: To describe the baseline clinical and functional characteristics of an international cohort of 193 patients with dysferlinopathy. Methods: The Clinical Outcome Study for dysferlinopathy (COS) is an international multicenter study of this d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32175e720dc1efeeeb3fa05411308fe6

Pilot trial of albuterol in facioscapulohumeral muscular dystrophy

Autor: Robert C. Griggs, John T. Kissel, J. R. Mendell, Rabi Tawil, Shree Pandya, Wendy King, Michael P. McDermott, Rajeshwari Natarajan

Publikováno v: Neurology. 50:1402-1406

Background/Objective: Facioscapulohumeral muscular dystrophy (FSHD) is currently untreatable, and there have been few therapeutic trials of any agent in the disease. Animal studies have demonstrated that β 2 -adrenergic agonists induce muscle hypert

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8821bdb3e537b2254b28ab02cdf2d9cb
https://doi.org/10.1212/wnl.50.5.1402

Positive neuropathic sensory symptoms as endpoints in diabetic neuropathy trials

Autor: S C, Apfel, A K, Asbury, V, Bril, T M, Burns, J N, Campbell, C H, Chalk, P J, Dyck, E L, Feldman, H L, Fields, I A, Grant, J W, Griffin, C J, Klein, U, Lindblom, W J, Litchy, P A, Low, M, Melanson, J R, Mendell, M D, Merren, P C, O'Brien, M, Rendell, R A, Rizza, F J, Service, P K, Thomas, D, Walk, A K, Wang, K, Wessel, A J, Windebank, D, Ziegler, D W, Zochodne

Publikováno v: Journal of the Neurological Sciences. 189:3-5

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abdc14c308d4062bad939a31e42726fc
https://doi.org/10.1016/s0022-510x(01)00584-6

Novel compound heterozygous laminina2-chain gene (LAMA2) mutations in congenital muscular dystrophy. Mutations in brief no. 159. Online

Autor: J T, Mendell, S G, Panicker, C Y, Tsao, B, Feng, Z, Sahenk, G A, Marzluf, J R, Mendell

Publikováno v: Human mutation. 12(2)

The laminina2-chain gene (LAMA2) encodes a basal lamina protein, laminina2, known to be deficient in one form of congenital muscular dystrophy (CMD). In a laminina2 deficient-CMD patient, we screened the entire LAMA2 cDNA (953bp) by reverse transcrip

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c47079ed6c8beddc7159cb38468535cd
https://pubmed.ncbi.nlm.nih.gov/10694916

Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies

Autor: C, Bartolo, J R, Mendell, T W, Prior

Publikováno v: American journal of medical genetics. 79(5)

Approximately 95% of all Friedreich's ataxia (FA) patients are homozygous for a large GAA triplet-repeat expansion in the first intron of the Friedreich's ataxia gene (FRDA). The remaining cases are expected to be compound heterozygous with a GAA exp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::79fdeb62db81163584b4f16b7eb8ebaf
https://pubmed.ncbi.nlm.nih.gov/9779809