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

المؤلفون: Jean Pouget, Elisabeth Jouve, Joëlle Micallef, Olivier Blin, Tanya Stojkovic, Shahram Attarian, Pierre-Marie Gonnaud, Odile Dubourg, Cécile Colomban, Marie-Noëlle Lefebvre

المصدر: Journal of the Neurological Sciences. 336:155-160

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Disease, law.invention, Cohort Studies, Quality of life, Randomized controlled trial, Charcot-Marie-Tooth Disease, law, Surveys and Questionnaires, Internal medicine, medicine, Humans, Carpal tunnel syndrome, Sex Characteristics, business.industry, Multiple sclerosis, Middle Aged, medicine.disease, Large cohort, medicine.anatomical_structure, Neurology, Cohort, Quality of Life, Physical therapy, Upper limb, Female, Neurology (clinical), business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28085f429e5897a845f992e9e032dd41Test
https://doi.org/10.1016/j.jns.2013.10.029Test

المؤلفون: Jean-Yves Hogrel, Daniel Tanesse, Laurence Attolini, Eric Azabou, Tanya Stojkovic, Rafaëlle Bernard, Odile Dubourg, Marie-Noëlle Lefebvre, Michel Fontes, Mahmoud Al-Moussawi, Shahram Attarian, Olivier Blin, Elisabeth Jouve, Pierre-Marie Gonnaud, Jean Pouget, Francois Vacherot, Jean-Francois Remec, Sadek Yaici, Joëlle Micallef, Severine Pitel, Laurent Jomir

المصدر: The Lancet Neurology. 8:1103-1110

مصطلحات موضوعية: Adult, Male, medicine.medical_specialty, Movement, Sensation, Placebo-controlled study, Physical examination, Ascorbic Acid, Walking, Placebo, Antioxidants, law.invention, Random Allocation, Double-Blind Method, Randomized controlled trial, Charcot-Marie-Tooth Disease, law, Internal medicine, medicine, Humans, Muscle Strength, Adverse effect, Intention-to-treat analysis, Hand Strength, medicine.diagnostic_test, business.industry, Middle Aged, Ascorbic acid, Muscle atrophy, Surgery, Treatment Outcome, Socioeconomic Factors, Female, Neurology (clinical), medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::192f9b483a6b5c3ee67c715c170b6b39Test
https://doi.org/10.1016/s1474-4422Test(09)70260-1

المؤلفون: Victor Chan, Claude Stoll, Philippe Latour, François Ziegler, Elisabeth Ollagnon, Serge Perelman, Tanya Stojkovic, Christophe Vial, Antoon Vandenberghe, Pierre-Marie Gonnaud, Irène Maire

المصدر: Journal of the Peripheral Nervous System. 11:148-155

مصطلحات موضوعية: Adult, Male, Adolescent, DNA Mutational Analysis, Disease, Biology, medicine.disease_cause, Charcot-Marie-Tooth Disease, Sequence Analysis, Protein, Lysosome, medicine, Humans, Missense mutation, Coding region, Child, Gene, Late endosome, Aged, Genes, Dominant, Retrospective Studies, Family Health, Genetics, Mutation, General Neuroscience, Infant, Nuclear Proteins, Exons, Middle Aged, Pedigree, Phenotype, medicine.anatomical_structure, Child, Preschool, Mutation testing, Female, Neurology (clinical), Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3d34af2f9a99e1e289ed83775a6598aTest
https://doi.org/10.1111/j.1085-9489.2006.00080.xTest

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

المؤلفون: Isabelle Benatru, Yara Beaugendre, Stéphane Thobois, Nathalie Andre-Obadia, Pierre-Marie Gonnaud, Michel Gonce, Emmanuel Broussolle, Colette Berger

المصدر: Movement disorders : official journal of the Movement Disorder Society. 18(12)

مصطلحات موضوعية: Male, Myoclonus, Pathology, medicine.medical_specialty, Antineoplastic Agents, Neurological disorder, Cerebrospinal fluid, Fatal Outcome, Interferon, Evoked Potentials, Somatosensory, medicine, Humans, Muscle, Skeletal, medicine.diagnostic_test, business.industry, Electromyography, Neurotoxicity, Interferon-alpha, Videotape Recording, Magnetic resonance imaging, Electroencephalography, Middle Aged, medicine.disease, Spinal cord, Proprioception, Kidney Neoplasms, medicine.anatomical_structure, Neurology, Spinal Cord, Neurology (clinical), medicine.symptom, business, Kidney cancer, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a11894a6ed572bafb1769971c36f05ddTest
https://pubmed.ncbi.nlm.nih.gov/14673903Test

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