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المؤلفون: Jean-Michel Vallat, Claire Demiot, Laurent Magy, Arnaud Lacour, Laurence Richard, Mathilde Duchesne, Tania Stojkovic, Daniel Cohen, Viviane Bertrand, Serguei Nabirotchkin, Pierre-Marie Gonnaud, Klaus-Armin Nave, Yann Péréon, Shahram Attarian, Aurore Danigo
المصدر: Journal of Neuropathology & Experimental Neurology. 77:274-281
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Langerhans cell, Visual Analog Scale, Biopsy, Neural Conduction, Nerve fiber, Disease, Severity of Illness Index, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, Myelin, Nerve Fibers, 0302 clinical medicine, Charcot-Marie-Tooth Disease, medicine, Humans, Myelin Sheath, Skin, medicine.diagnostic_test, business.industry, General Medicine, Middle Aged, Pathophysiology, 030104 developmental biology, medicine.anatomical_structure, Neurology, Peripheral nervous system, Skin biopsy, Neuropathic pain, Female, Neurology (clinical), business, Myelin Proteins, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a34bce535f19bbdda90931c4b2287d91Test
https://doi.org/10.1093/jnen/nly001Test -
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المؤلفون: Christophe Rousselle, Gaetan Lesca, Pierre-Marie Gonnaud, Audrey Labalme, Nicolas Chatron, Perrine Devic, Damien Sanlaville
المصدر: European Journal of Paediatric Neurology. 21:e175-e176
مصطلحات موضوعية: S syndrome, Biotin-thiamine-responsive basal ganglia disease, Pediatrics, Perinatology and Child Health, Neurology (clinical), General Medicine, Biology, Molecular biology, Exome sequencing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4bbdb570a6255d461d0297fa9da4a512Test
https://doi.org/10.1016/j.ejpn.2017.04.993Test -
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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: Solène Ronsin, Laure Peter-Derex, Pierre-Marie Gonnaud, Nathalie André-Obadia, Adrien Didelot
المصدر: Neurophysiologie Clinique/Clinical Neurophysiology. 46:104
مصطلحات موضوعية: Neurology, Physiology (medical), Neurology (clinical), General Medicine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::fff5c2cc9952d3580e1aa4864ecd700fTest
https://doi.org/10.1016/j.neucli.2016.05.025Test -
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المصدر: The American Journal of Dermatopathology. 12:412-416
مصطلحات موضوعية: Adult, Male, Cell type, Pathology, medicine.medical_specialty, Macrophages, Uninvolved skin, Infantile neuronal ceroid lipofuscinosis, Dermatology, General Medicine, Fibroblasts, Biology, medicine.disease, Pathology and Forensic Medicine, Microscopy, Electron, medicine.anatomical_structure, Dermis, Neuronal Ceroid-Lipofuscinoses, medicine, Ceroid lipofuscinosis, Ultrastructure, Humans, Myocyte, Juvenile, Skin
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71c2700f1fb40d9126d0361a6faad98dTest
https://doi.org/10.1097/00000372-199008000-00014Test -
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المؤلفون: C. Vial, Antoon Vandenberghe, J. M. Warter, C. Bonnebouche, Pierre-Marie Gonnaud, B. Bady, A. S. Brechard, V. Fourbil, C. Tranchant, Guy Chazot, Franck Sturtz
المصدر: Acta neurologica Scandinavica. 92(4)
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Adolescent, Genotype, Asymptomatic, Paralysis, medicine, Humans, Point Mutation, Allele, Genotyping, Alleles, Ulnar Nerve, Palsy, business.industry, Point mutation, Peroneal Nerve, General Medicine, DNA, Middle Aged, medicine.disease, Dermatology, Median Nerve, Neurology, Mutagenesis, Female, Neurology (clinical), medicine.symptom, Chromosome Deletion, Tibial Nerve, business, Hereditary Sensory and Motor Neuropathy, Polyneuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba75f66a17e7081c34a569f73ae7c6cbTest
https://pubmed.ncbi.nlm.nih.gov/8848937Test -
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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