Zobrazeno 1 - 10
of 73
pro vyhledávání: '"Fernando M.S. Tomé"'
Autor:
H. Lavoie, Rivka Inzelberg, Bernard Brais, A. Asherov, P. Nisipeanu, R.L. Carasso, Guy A. Rouleau, Fernando M.S. Tomé, S. Medynski, Sergiu C. Blumen, Amos D. Korczyn, Joab Chapman, Jean-Pierre Bouchard
Publikováno v:
Neurology. 55:1267-1270
Objective: To determine whether all cases of oculopharyngeal muscular dystrophy (OPMD) among Bukhara Jews share the same founder mutation. Background: Autosomal dominant OPMD is caused by a (GCG) 8–13 repeat expansion in the polyadenylation binding
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7f816ab2d522e467834e7e40b5ddd91
https://doi.org/10.1212/wnl.55.9.1267
https://doi.org/10.1212/wnl.55.9.1267
Autor:
Michel Fardeau, Michio Hirano, Simon W. Maybaum, Fernando M.S. Tomé, Sherri A. Dovico, Steven A. Moore, Kevin P. Campbell, Arthur P. Hays, Rachelle H. Crosbie, Leland E. Lim, Catherine A. Stolle, H. Collin
Publikováno v:
Human Molecular Genetics. 9:2019-2027
Autosomal recessive limb girdle muscular dystrophies 2C-2F represent a family of diseases caused by primary mutations in the sarcoglycan genes. We show that sarcospan, a novel tetraspan-like protein, is also lost in patients with either a complete or
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d37c386636e769e597d73ec1673b78f
https://doi.org/10.1093/hmg/9.13.2019
https://doi.org/10.1093/hmg/9.13.2019
Autor:
A. Barois, Caroline Sewry, Haluk Topaloglu, Pascale Guicheney, I. Naom, Michel Fardeau, Brigitte Estournet, Luciano Merlini, Fernando M.S. Tomé, Francesco Muntoni, Behzad Moghadaszadeh
Publikováno v:
Neuromuscular Disorders. 9:376-382
Rigid spine syndrome is a neuromuscular disorder characterised by early rigidity of the spine due to axial muscle contractures, generally associated with muscle weakness, limb-joint contractures, and often respiratory failure. This phenotype may be a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b284428f8504b7451c9d39f3876f438d
https://doi.org/10.1016/s0960-8966(99)00051-6
https://doi.org/10.1016/s0960-8966(99)00051-6
Autor:
P. Nisipeanu, Bernard Brais, A. Asherov, François Codère, Joab Chapman, Michel Fardeau, Susan Medinsky, Jean-Pierre Bouchard, Sergiu C. Blumen, Amos D. Korczyn, Guy A. Rouleau, Fernando M.S. Tomé
Publikováno v:
Annals of Neurology. 46:115-118
Autosomal dominant oculopharyngeal muscular dystrophy (OPMD) usually begins with ptosis or dysphagia during the fifth or sixth decade of life. We studied 7 patients with OPMD symptoms starting before the age of 36 years. All were found to be homozygo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::43432af73604616e6f3afdf6548c0c83
https://doi.org/10.1002/1531-8249(199907)46:1<115::aid-ana17>3.0.co
https://doi.org/10.1002/1531-8249(199907)46:1<115::aid-ana17>3.0.co
Autor:
D. Yaffe, Ketty Schwartz, B. Guerette, Jacques P. Tremblay, Fernando M.S. Tomé, Jack Puymirat, Michel Fardeau, Marc Fiszman, Jean-Thomas Vilquin
Publikováno v:
Gene Therapy. 6:792-800
Laminin-2 is part of the basement membrane of the skeletal muscle fibers. The laminin alpha 2 chain is absent or drastically reduced in a subgroup of congenital muscular dystrophy patients, and in the severely affected dystrophic dy/dy mouse. We prev
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e82bf93fad6583d0afd9fc8672c7e9e
https://doi.org/10.1038/sj.gt.3300889
https://doi.org/10.1038/sj.gt.3300889
Publikováno v:
Neuromuscular Disorders
Autosomal dominant oculopharyngeal muscular dystrophy (OPMD) is an adult-onset disease with worldwide distribution. It usually presents in the fifth or sixth decades with progressive dysphagia, eyelid ptosis, and proximal limb weakness. Unique intran
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0372a5f29b3e4e59a2db88c58c0b360
https://doi.org/10.1055/s-2008-1040826
https://doi.org/10.1055/s-2008-1040826
Autor:
Fernando M.S. Tomé, Michel Fardeau
Publikováno v:
Current Opinion in Neurology. 11:453-459
Hereditary inclusion body myopathies comprise autosomal recessive and autosomal dominant muscle disorders that have a variable clinical phenotype but share similar morphological features. These include rimmed vacuoles within muscle fibres and collect
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d8973b99b65f4adb5fa60445e7b554e5
https://doi.org/10.1097/00019052-199810000-00007
https://doi.org/10.1097/00019052-199810000-00007
Autor:
Anne Caron, Denise Paulin, Fernando M.S. Tomé, Armelle Faure, Pascale Guicheney, Danielle Chateau, Zhenlin Li, Marie-Christine Prévost, Jean-Marie Dupret, Michel Fardeau, Patrick Vicart, Françoise Chapon
Publikováno v:
Nature Genetics. 20:92-95
Desmin-related myopathies (DRM) are inherited neuromuscular disorders characterized by adult onset and delayed accumulation of aggregates of desmin, a protein belonging to the type III intermediate filament family, in the sarcoplasma of skeletal and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28e01d4200376715ad21b7058e23e9e8
https://doi.org/10.1038/1765
https://doi.org/10.1038/1765
Autor:
Fernando M.S. Tomé, Michel Fardeau
Publikováno v:
Neuromuscular Disorders. 7:S30-S33
The clinical, histopathological, ultrastructural and geographical data on 29 cases of oculopharyngeal muscular dystrophy (OPMD) identified by the authors in France in briefly presented. The mean age of the patients was 53.8 ± 8.1 years. Onset sympto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2c5538e1027d8eeab50eee42aba07ef3
https://doi.org/10.1016/s0960-8966(97)00078-3
https://doi.org/10.1016/s0960-8966(97)00078-3
Autor:
O. Nohira, Masayuki Ando, Danielle Chateau, Fernando M.S. Tomé, T. Okabe, E. Uyama, Makoto Tokunaga, Makoto Uchino, M. Maki
Publikováno v:
Neuromuscular Disorders. 7:S41-S49
Oculopharyngeal muscular dystrophy (OPMD) in the European population has been frequently diagnosed, but except for one black family, the occurrence in other ethnic groups is uncertain. We identified two unrelated OPMD Japanese families, including 34
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d5d98624135e3ea509413eabf2d49be
https://doi.org/10.1016/s0960-8966(97)00081-3
https://doi.org/10.1016/s0960-8966(97)00081-3