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1
المؤلفون: Philippe Latour, Jean-Michel Vallat, Stéphane Mathis, Franck Sturtz, Elisabeth Ollagnon-Roman, Laurence Richard, Maxime Jouaud, Laurent Magy, Pierre-Marie Gonnaud
المساهمون: Maintenance Myélinique et Neuropathies Périphériques (MMNP), Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Centre de référence national neuropathies périphériques rares [CHU Limoges], CHU Limoges, Service de Neurologie [CHU Limoges], Service de Biochimie et Génétique Moléculaire [CHU Limoges], Service de neurologie [Poitiers], Centre hospitalier universitaire de Poitiers (CHU Poitiers)
المصدر: Neuromuscular Disorders
Neuromuscular Disorders, Elsevier, 2016, 26 (4-5), pp.316-321. ⟨10.1016/j.nmd.2016.01.004⟩مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, [SDV]Life Sciences [q-bio], Biopsy, Neural Conduction, Sural nerve, Biology, Nerve biopsy, Young Adult, 03 medical and health sciences, Exon, 0302 clinical medicine, Sural Nerve, Charcot-Marie-Tooth Disease, Internal medicine, Peripheral myelin protein 22, medicine, Humans, Point Mutation, Congenital hypomyelinating neuropathy, RNA, Messenger, Allele, Genetics (clinical), Sequence Deletion, Genetics, medicine.diagnostic_test, CMT, Myelin protein zero, Point mutation, 030104 developmental biology, Endocrinology, PMP22, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Neurology (clinical), Myelin Proteins, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3b3d2fe18a089c97d79b82c9ae24461Test
https://doi.org/10.1016/j.nmd.2016.01.004Test -
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المؤلفون: Jonas Mandel, Benoît Funalot, Laurent Magy, Odile Dubourg, Arnaud Lacour, Jean-Michel Vallat, Marie-Noëlle Lefebvre, Lamia Boudiaf, Marguerite Preudhomme, Mahmoud Al-Moussawi, Shahram Attarian, Daniel Cohen, Vincent Tiffreau, Pierre-Marie Gonnaud, Mickaël Guedj, Jérôme Franques, Rodolphe Hajj, Philippe Lehert, Jean Pouget, Catherine Scart-Grès, Armelle Magot, Yann Péréon, Ilya Chumakov, Walter Gilbert, Aude Milet, Laura Bossi, Tanya Stojkovic, Serguei Nabirotchkin, Karima Ghorab, Laurène Leclair-Visonneau, Viviane Bertrand, Joëlle Micallef
المساهمون: UCL - SSH/ILSM - Louvain School of Management Research Institute
المصدر: Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol. 9, no.1, p. 199 (2014)مصطلحات موضوعية: Adult, Male, Baclofen, Charcot-Marie-Tooth, medicine.medical_specialty, Combination therapy, Pharmacology, Placebo, Phase 2, law.invention, Double-Blind Method, Randomized controlled trial, Charcot-Marie-Tooth Disease, law, Internal medicine, medicine, Clinical endpoint, Humans, Sorbitol, Genetics(clinical), Pharmacology (medical), Adverse effect, Wasting, Genetics (clinical), Medicine(all), business.industry, Research, General Medicine, Middle Aged, Naltrexone, Clinical trial, CMT1A, Tolerability, Drug Therapy, Combination, Female, Erratum, medicine.symptom, business, Repurposing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d82998f2043b10469b1df30f30ed1b1Test
https://doi.org/10.1186/s13023-014-0199-0Test -
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المؤلفون: Pierre Cochat, Claude Dupont, Christine Bonnebouche, Antoon Vandenberghe, Pierre-Marie Gonnaud, Guy Chazot, Muriel Bost, Brigitte Gilbert
المصدر: Clinical genetics. 46(5)
مصطلحات موضوعية: Genetics, Genetic Markers, Male, Biology, medicine.disease, Pedigree, Central nervous system disease, Degenerative disease, Gene Frequency, Genetic marker, Charcot-Marie-Tooth Disease, Multigene Family, Gene duplication, medicine, Humans, Female, Allele, Molecular probe, DNA Probes, Genetics (clinical), Alleles, Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::03d2e9d81a51fb610e4c25c2f74c85a2Test
https://pubmed.ncbi.nlm.nih.gov/7889651Test -
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المؤلفون: Shahram Attarian, Jean-Michel Vallat, Laurent Magy, Benoît Funalot, Pierre-Marie Gonnaud, Arnaud Lacour, Yann Péréon, Odile Dubourg, Jean Pouget, Joëlle Micallef, Jérôme Franques, Marie-Noëlle Lefebvre, Karima Ghorab, Mahmoud Al-Moussawi, Vincent Tiffreau, Marguerite Preudhomme, Armelle Magot, Laurène Leclair-Visonneau, Tanya Stojkovic, Laura Bossi, Philippe Lehert, Walter Gilbert, Viviane Bertrand, Jonas Mandel, Aude Milet, Rodolphe Hajj, Lamia Boudiaf, Catherine Scart-Grès, Serguei Nabirotchkin, Mickael Guedj, Ilya Chumakov, Daniel Cohen
المصدر: Orphanet Journal of Rare Diseases. 11(1)
مصطلحات موضوعية: Medicine(all), Genetics(clinical), Pharmacology (medical), General Medicine, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4079856e69d56bddaf0ae6a5c004e3f5Test