Zobrazeno 1 - 10 of 12 pro vyhledávání: '"Stéphane Llense"'
1
Revised spectrum of mutations in sarcoglycanopathies
Autor: Niloufar Kavian, Fatma Daoud, Nathalie Deburgrave, Caroline Beugnet, Jamel Chelly, Aurélie Vasson, Jean Claude Kaplan, Stéphane Llense, Madiha Trabelsi, Jean Claude Barbot, Virginie Commere
Publikováno v: European Journal of Human Genetics. 16:793-803
To define the spectrum of mutations in alpha-, beta-, gamma-, and delta-sarcoglycan (SG) genes, we analyzed these genes in 69 probands with clinical and biological criteria compatible with the diagnosis of autosomal recessive limb-girdle muscular dys
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c9000827b13eba487d71ccdd17d62050
https://doi.org/10.1038/ejhg.2008.9
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2
Dystrophinopathy caused by mid-intronic substitutions activating cryptic exons in the DMD gene
Autor: Christophe Béroud, Alain Carrié, Chérif Beldjord, Nathalie Deburgrave, Stéphane Llense, Nadège Carelle, Cécile Peccate, Jean-Marie Cuisset, Florence Pandit, Frédérique Carré-Pigeon, Michèle Mayer, Rémi Bellance, Dominique Récan, Jamel Chelly, Jean-Claude Kaplan, France Leturcq
Publikováno v: Neuromuscular Disorders. 14:10-18
In the course of a mutation search performed by muscle dystrophin transcript analysis in 72 Duchenne and Becker Muscular Dystrophies (DMD/BMD) patients without gross gene defect, we encountered four unrelated cases with additional out-of-frame sequen
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef2d1cbd19a5032351e08f2f2d17faee
https://doi.org/10.1016/s0960-8966(03)00169-x
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3
Early presentation of X-linked Emery–Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy
Autor: Glenn E. Morris, Jacqueline Taylor, D. Recan, Stéphane Llense, Ewa J Lichtarowicz-Krynska, S. Manilal, Victor Dubowitz, Francesco Muntoni, Caroline Sewry
Publikováno v: Neuromuscular Disorders. 8:72-76
Emery–Dreifuss muscular dystrophy is an X-linked neuromuscular disorder caused by defects in the STA gene on Xq28, which codes for a nuclear protein named emerin. Affected patients usually present in early adolescence with scapulo-peroneal muscle w
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cca90563f9ef22fbdbecef450c973106
https://doi.org/10.1016/s0960-8966(98)00006-6
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5
Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism?
Autor: Takuro Arimura, Catherine Massart, Dominique Babuty, L. Demay, Nathalie Deburgrave, D. Récan-Budiartha, Cécile Peccate, K. E. Litim, Gisèle Bonne, N. Rahmoun-Chiali, Pascale Richard, F. Leturcq, Annick Toutain, Stéphane Llense, Antoine Muchir, R. Ben Yaou
Publikováno v: ResearcherID
Background: Mutations in the EMD and LMNA genes, encoding emerin and lamins A and C, are responsible for the X-linked and autosomal dominant and recessive forms of Emery–Dreifuss muscular dystrophy (EDMD). LMNA mutations can also lead to several ot
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::232033f3ba29ecffe589ed0b6013e7c9
https://pubmed.ncbi.nlm.nih.gov/17536042
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6
Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with 'de novo' duplication of dystrophin gene
Autor: Norma Beatriz Romero, Pascale De Lonlay, Stéphane Llense, France Leturcq, Guy Touati, J-Andoni Urtizberea, Jean Marie Saudubray, Arnold Munnich, Jean Claude Kaplan, Dominique Récan
Publikováno v: Neuromuscular disorders : NMD. 11(5)
We report a 6-year-old female patient presenting with a sudden and severe single episode of rhabdomyolysis in which screening for a metabolic disorder was negative. Four months after the episode a muscle biopsy was performed and showed a mild pattern
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef8b15142099f72dc18cc567a5654d59
https://pubmed.ncbi.nlm.nih.gov/11404124
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7
Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression
Autor: S. Manilal, J.-C. Kaplan, Nguyen thi Man, Stéphane Llense, Caroline Sewry, J.-C. Barbot, Manfred Wehnert, D. Recan, F. Leturcq, Glenn E. Morris, Nathalie Deburgrave, Maria Hoeltzenbein, Francesco Muntoni
Publikováno v: Human molecular genetics. 7(5)
Seventeen families with Emery-Dreifuss muscular dystrophy (EDMD) have been studied both by DNA sequencing and by emerin protein expression. Fourteen had mutations in the X-linked emerin gene, while three showed evidence of autosomal inheritance. Twel
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c537028c8268b0a5b49d40d0888db3c
https://pubmed.ncbi.nlm.nih.gov/9536090
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9
Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation
Autor: Jamel Chelly, L. Richard, Stéphane Llense, V. des Portes, Cherif Beldjord, Axel Kahn, Pierre Billuart, T. Brüls, Marie-Laure Moutard, Thierry Bienvenu, D. Recan, M C Vinet
Publikováno v: Human molecular genetics. 5(7)
X-linked non-specific mental retardation (MRX) is a heterogeneous condition in which mental retardation (MR) appears to be the only consistent manifestation. The genetic and phenotypic heterogeneity exclude any possibility of pooling families and, th
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee70fe1721100a9520001688feb6b58e
https://pubmed.ncbi.nlm.nih.gov/8817333
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