Zobrazeno 1 - 10 of 20 pro vyhledávání: '"Marie-Claire Malinge"'
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Akademický článek
Infantile‐onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!
Autor: Heidy Baide‐Mairena, Arthur Coget, Nicolas Leboucq, Vincent Procaccio, Maud Blanluet, Pierre Meyer, Marie‐Claire Malinge, Marie‐Céline François‐Heude, Mathis Moreno, David Geneviève, Cecilia Marelli, Agathe Roubertie
Publikováno v: Annals of Clinical and Translational Neurology, Vol 10, Iss 10, Pp 1937-1943 (2023)
Abstract We present the phenotype of an infant with the largest ATN1 CAG expansion reported to date (98 repeats). He presented at 4 months with developmental delay, poor eye contact, acquired microcephaly, failure to thrive. He progressively develope
Externí odkaz: https://doaj.org/article/4e20df8f96174de3b4d0e0ea2e34f8b3
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3
A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing
Autor: Thibaut Benquey, Emmanuelle Pion, Mireille Cossée, Martin Krahn, Tanya Stojkovic, Aurélien Perrin, Mathieu Cerino, Annamaria Molon, Anne-Sophie Lia, Corinne Magdelaine, Bruno Francou, Anne Guiochon-Mantel, Marie-Claire Malinge, Eric Leguern, Nicolas Lévy, Shahram Attarian, Philippe Latour, Nathalie Bonello-Palot
Publikováno v: Genes; Volume 13; Issue 2; Pages: 318
Genes
Genes, 2022, 13 (2), pp.318. ⟨10.3390/genes13020318⟩
Next generation sequencing (NGS) is strategically used for genetic diagnosis in patients with Charcot–Marie–Tooth disease (CMT) and related disorders called non-syndromic inherited peripheral neuropathies (NSIPN) in this paper. With over 100 diff
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edb134b0772d77a59e31ca6b34fd8039
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4
Limb overgrowth associated with a mosaic tsc2 second-hit in tuberous sclerosis complex
Autor: V. Carmignac, Pierre Vabres, Marie-Claire Malinge, Florence Petit, Marine Tessarech
Publikováno v: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, 2020, American Journal of Medical Genetics Part A, 182 (11), pp.2803-2804. ⟨10.1002/ajmg.a.61811⟩
International audience
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e725d025207538169a6e5a90e246a79
https://hal.univ-lille.fr/hal-03632156
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5
Exophiala dermatitidis Revealing Cystic Fibrosis in Adult Patients with Chronic Pulmonary Disease
Autor: Bénédicte Richaud-Thiriez, Marie Gainet-Brun, Jean-Philippe Bouchara, B. Cimon, Heloise Pana-Katatali, Marie-Claire Malinge, Frédéric Grenouillet, Yohann Le Govic, Christine Person
Publikováno v: Mycopathologia
Mycopathologia, Springer Verlag, 2018, 183 (1), pp.71-79. ⟨10.1007/s11046-017-0218-5⟩
International audience; Cystic fibrosis (CF) is a genetic inherited disease due to mutations in the gene cystic fibrosis transmembrane conductance regulator (CFTR). Because of the huge diversity of CFTR mutations, the CF phenotypes are highly heterog
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::949275bb4ed1f1b77e763ddac1a2ab3f
https://doi.org/10.1007/s11046-017-0218-5
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6
CFTR -France, a national relational patient database for sharing genetic and phenotypic data associated with rare CFTR variants
Autor: Ingrid Duguépéroux, Emmanuelle Girodon, C. Thèze, David Baux, Marie-Pierre Audrézet, M.-P. Reboul, V. Gaston, Eric Bieth, Thierry Bienvenu, Marie des Georges, Lydie Lemonnier, C. Bareil, Mireille Claustres, C. Raynal, Guy Lalau, Marie-Claire Malinge, Souphatta Sasorith, Vincent Thoreau, Chadia Mekki, Pascale Fanen, Anne Bergougnoux, Patricia Fergelot, Alain Kitzis, Claude Férec, A. Pagin
Publikováno v: Human Mutation
Human Mutation, Wiley, 2017, 38 (10), pp.1297-1315. ⟨10.1002/humu.23276⟩
International audience; Most of the 2,000 variants identified in the CFTR (cystic fibrosis transmembrane regulator) gene are rare or private. Their interpretation is hampered by the lack of available data and resources, making patient care and geneti
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8082cfd704b4f7ba7405b39279e65427
https://hal.umontpellier.fr/hal-02434844
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7
Cognitive changes in asymptomatic carriers of the Huntington disease mutation gene
Autor: D. Le Gall, Frédéric Dubas, C. Scherer, Dominique Bonneau, P. Allain, Marie-Claire Malinge, Christophe Verny, Bénédicte Gohier, A. Prudean
Publikováno v: European Journal of Neurology. 14:1344-1350
Huntington disease (HD) is a neurodegenerative disorder due to an excessive number of CAG repeats in the IT15 gene on chromosome 4. Studies of cognitive function in asymptomatic gene carriers have yielded contradictory results. This study compared co
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::385ce31ad747d209e85dd791b863ca0e
https://doi.org/10.1111/j.1468-1331.2007.01975.x
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Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease
Autor: Arnaud Chevrollier, Marc Ferré, Marie-Anne Pou de Crescenzo, Pascal Reynier, Dominique Loiseau, Naïg Gueguen, Agnès Guichet, Yves Malthièry, Marie-Claire Malinge, Dominique Bonneau, Guillaume Nicolas, Patrizia Amati-Bonneau, Christophe Verny, Virginie Guillet
Publikováno v: Annals of Neurology. 61:315-323
Objective Mutations of the mitofusin 2 gene (MFN2) may account for at least a third of the cases of Charcot–Marie–Tooth disease type 2 (CMT2). This study investigates mitochondrial cellular bioenergetics in MFN2-related CMT2A. Methods Mitochondri
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec1214cc538d0ddbf6660c3137287354
https://doi.org/10.1002/ana.21086
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9
Pure bulbar motor neuron involvement linked to an abnormal CAG repeat expansion in the androgen receptor gene
Autor: Anne-Marie Guennoc, Bertrand de Toffol, Julien Praline, Marie‐Claire Malinge, Philippe Corcia
Publikováno v: Amyotrophic Lateral Sclerosis. 9:40-42
Spinal and bulbar muscular atrophy (SBMA) is an X-linked adult motor neuron disorder caused by an abnormal CAG-repeat expansion in the first exon of the androgen receptor gene. This disease associates progressive lower motor neuron affection and endo
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::829cb77d1606cffb0ba593d8dfd77877
https://doi.org/10.1080/17482960701553915
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10
Molecular characterization of corona radiata cells from patients with diminished ovarian reserve using microarray and microfluidic-based gene expression profiling
Autor: Nicolas Lucas, Philippe Descamps, Marie-Claire Malinge, Charles Marcaillou, Pascale May-Panloup, Sophie Lemerle, Catherine Morinière, Véronique Ferré-L’Hotellier, Anne Coutolleau, Philippe Guardiola, Pascal Reynier
Publikováno v: Human reproduction (Oxford, England)
Human reproduction (Oxford, England), 2012, 27 (3), pp.829-43. ⟨10.1093/humrep/der431⟩
International audience; BACKGROUND: Diminished ovarian reserve (DOR) is one of the causes of infertility in young women. In this prospective study, gene expression profiling (GEP) of corona radiata cells (CRC) was performed to identify genes deregula
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7d888897d68ffe5002e74244f7578cb3
https://hal.univ-angers.fr/hal-03388022
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