المؤلفون: Nicolas Pons, Gorka Fernández‐Eulate, Antoine Pegat, Marie Théaudin, Régis Guieu, Paolo Ripellino, Manon Devedjian, Patrick Mace, Marion Masingue, Sarah Léonard‐Louis, Philipe Petiot, Pauline Roche, Emilien Bernard, Françoise Bouhour, Jean‐Marc Good, Annie Verschueren, Aude‐Marie Grapperon, Emmanuelle Salort, Anaïs Grosset, Jean‐Baptiste Chanson, Aleksandra Nadaj‐Pakleza, Anne‐Laure Bédat‐Millet, Ariane Choumert, Anne Barnier, Ghassen Hamdi, Gaëtan Lesca, Fabienne Prieur, Arnaud Bruneel, Philippe Latour, Tanya Stojkovic, Shahram Attarian, Nathalie Bonello‐Palot

المصدر: European Journal of Neurology.

مصطلحات موضوعية: Neurology, Neurology (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7159cc223fe3b6844433bc66560368d3Test
https://doi.org/10.1111/ene.15793Test

المؤلفون: Gwendal Le Masson, Tanya Stojkovic, Jean-Baptiste Chanson, Bruno Francou, Kumaran Deiva, Thierry Maisonobe, Thierry Kuntzer, Laurent Magy, Philippe Latour, Peter Van den Berghe, Guilhem Solé, Cécile Cauquil, Clotilde Nardin, François Ochsner, Shahram Attarian, Alain Créange, Emilien Delmont, Fabien Hauw, Steeve Genestet, Guillaume Fargeot, David H. Adams, Thierry Gendre, Céline Tard, Andoni Echaniz-Laguna

المصدر: European Journal of Neurology. 28:2846-2854

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Weakness, Pediatrics, medicine.medical_specialty, Hearing loss, business.industry, Chronic inflammatory demyelinating polyneuropathy, Polyradiculoneuropathy, Retrospective cohort study, Disease, medicine.disease, 03 medical and health sciences, 0302 clinical medicine, Neurology, medicine, 030212 general & internal medicine, Neurology (clinical), medicine.symptom, business, Polyneuropathy, Brachial plexus, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::85d03f49c869c1ea2204872e0a2fb228Test
https://doi.org/10.1111/ene.14950Test

المؤلفون: Dominique Bonneau, Mariame Selma Kane, Pascal Reynier, Julien Cassereau, Philippe Codron, Philippe Latour, Andoni Echaniz-Laguna, Arnaud Chevrollier, Christophe Verny, Guy Lenaers, Vincent Procaccio

المساهمون: Physiopathologie Cardiovasculaire et Mitochondriale (MITOVASC), Université d'Angers (UA)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)

المصدر: J Peripher Nerv Syst
J Peripher Nerv Syst, 2016, 21 (4), pp.365-369. ⟨10.1111/jns.12192⟩

مصطلحات موضوعية: Adult, 0301 basic medicine, Cells, Neural Conduction, MFN2, GTPase, Biology, Mitochondrial Dynamics, Asymptomatic, DNA sequencing, Imaging, GTP Phosphohydrolases, Mitochondrial Proteins, 03 medical and health sciences, Mitofusin-2, 0302 clinical medicine, Charcot-Marie-Tooth Disease, fibroblasts, medicine, Humans, Nonparametric, Gene, Genetics, Cultured, General Neuroscience, Statistics, Heterozygote advantage, 030104 developmental biology, mitochondrial fusion, Mutation, Three-Dimensional, Female, Neurology (clinical), medicine.symptom, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d0c836f20bb79c17c8909efbf65ff81dTest
https://doi.org/10.1111/jns.12192Test

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: Klaus G. Petry, Claude Vital, Xavier Ferrer, Alain Lagueny, Catherine Ribière-Bachelier, Anne Vital, Philippe Latour

المصدر: Muscle & Nerve. 28:373-376

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, medicine.diagnostic_test, Physiology, business.industry, Chronic inflammatory demyelinating polyneuropathy, Disease, medicine.disease, nervous system diseases, Central nervous system disease, Cellular and Molecular Neuroscience, Myelin, Degenerative disease, medicine.anatomical_structure, Physiology (medical), Gene duplication, Biopsy, Genetic predisposition, Medicine, Neurology (clinical), business, Neuroscience

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8f572f135e0a867e35a8e6d189718dc2Test
https://doi.org/10.1002/mus.10404Test

المؤلفون: Xavier Ferrer, Anne Vital, Yusuf A. Rajabally, Alain Lagueny, Jean Julien, Antoon Vandenberghe, Philippe Latour, Claude Vital

المصدر: Journal of the Peripheral Nervous System. 5:158-162

مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Biopsy, HIV Infections, Chronic inflammatory demyelinating polyneuropathy, Disease, Asymptomatic, Charcot-Marie-Tooth Disease, Gene duplication, Genetic predisposition, medicine, Humans, medicine.diagnostic_test, business.industry, General Neuroscience, Superficial peroneal nerve, Peroneal Nerve, medicine.disease, nervous system diseases, Chromosome 17 (human), Microscopy, Electron, Polyradiculoneuropathy, Chronic Inflammatory Demyelinating, Neurology (clinical), medicine.symptom, business

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0e693cb4c2e5671e8d421fdad1f3261Test
https://doi.org/10.1046/j.1529-8027.2000.00014.xTest

المؤلفون: Christine Bonnebouche, Antoon Vandenberghe, Emmanuel Corbillon, Danielle Pham-Dinh, André Dautigny, Philippe Latour, Françoise Blanquet-Grossard, Guy Chazot

المصدر: Clinical Genetics. 48:281-283

مصطلحات موضوعية: chemistry.chemical_classification, Silent mutation, Genetics, Mutation, Point mutation, Biology, medicine.disease_cause, Amino acid, Serine, Exon, Myelin, medicine.anatomical_structure, chemistry, medicine, Missense mutation, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::621880a2ca6f4b1e2d7ae11f66ba41ccTest
https://doi.org/10.1111/j.1399-0004.1995.tb04109.xTest

المؤلفون: Anne Vital, Xavier Ferrer, Philippe Latour, Marie-Laure Martin-Negrier, Guilhem Solé, Claude Vital

المصدر: Journal of the Peripheral Nervous System. 14:206-207

مصطلحات موضوعية: Genetics, Mitofusin-2, General Neuroscience, Mutation (genetic algorithm), Ultrastructure, GTP Phosphohydrolases, Neurology (clinical), Biology, Bioinformatics

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::f5914b0bc6abbdcc4010a9f52c543274Test
https://doi.org/10.1111/j.1529-8027.2009.00234.xTest

المؤلفون: Philippe Latour, P Diraison, Antoon Vandenberghe, Christine Bonnebouche, Michel Boucherat, Muriel Bost, Françoise Chapon

المصدر: Clinical Genetics. 46:327-328

مصطلحات موضوعية: Male, Genetics, Myelin protein zero, Locus (genetics), Biology, Myelin P0 Protein, Molecular biology, Pedigree, Charcot-Marie-Tooth Disease, Chromosomes, Human, Pair 1, Humans, Restriction fragment length polymorphism, Deoxyribonucleases, Type II Site-Specific, Myelin Proteins, Polymorphism, Restriction Fragment Length, Genetics (clinical), Genes, Dominant

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae740794fe8dba1f7e04d4982f6a486eTest
https://doi.org/10.1111/j.1399-0004.1994.tb04172.xTest