المؤلفون: 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

المصدر: Genes, Vol 13, Iss 2, p 318 (2022)

مصطلحات موضوعية: rare diseases, public health, Charcot–Marie–Tooth disease, next generation sequencing, consensus gene list, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2073-4425/13/2/318Test; https://doaj.org/toc/2073-4425Test

الوصول الحر: https://doaj.org/article/bb4b83d625404ec689f638a210e74748Test

المؤلفون: Eloïse Baudou, Claude Cances, Corinne Magdelaine, Philippe Latour, Ulrike Walther Louvier, Raul Juntas-morales, Pascal Cintas, François Rivier

المصدر: Neuropediatrics. 53(3)

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Charcot-Marie-Tooth Disease, Pediatrics, Perinatology and Child Health, Neural Conduction, Humans, Neurology (clinical), General Medicine, Genetic Testing, Child, Hereditary Sensory and Motor Neuropathy, Retrospective Studies

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cbe0a85db47ed3e3cc65f4d74eb2328dTest
https://pubmed.ncbi.nlm.nih.gov/35297028Test

المؤلفون: Menelaos, Pipis, Andrea, Cortese, James M, Polke, Roy, Poh, Jana, Vandrovcova, Matilde, Laura, Mariola, Skorupinska, Arnaud, Jacquier, Raul, Juntas-Morales, Philippe, Latour, Philippe, Petiot, Guilhem, Sole, Yves, Fromes, Sachit, Shah, Julian, Blake, Byung-Ok, Choi, Ki Wha, Chung, Tanya, Stojkovic, Alexander M, Rossor, Mary M, Reilly

المصدر: Journal of neurology, neurosurgery, and psychiatry. 93(1)

مصطلحات موضوعية: Adult, Male, Neurons, Heterozygote, Genotype, Intermediate Filaments, Exons, Middle Aged, Magnetic Resonance Imaging, Pedigree, Young Adult, Phenotype, Sural Nerve, Charcot-Marie-Tooth Disease, Neurofilament Proteins, Mutation, Humans, Female

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::b6314bf96300301ac4d50a4c6aece36aTest
https://pubmed.ncbi.nlm.nih.gov/34518332Test

المؤلفون: Huihao Zhou, Bernhard Kuhle, Jingjing Zhang, Zaneta Matuszek, Litao Sun, Rita Horvath, Paul Schimmel, David Blocquel, Tao Pan, Na Wei, Thomas Weber, Philippe Latour, Xiang-Lei Yang, Weiwei He, Patrick R. Griffin, Scott J. Novick

المساهمون: Sun, Litao [0000-0002-4192-5136], Kuhle, Bernhard [0000-0002-0501-1150], Novick, Scott [0000-0003-0213-3897], Matuszek, Zaneta [0000-0001-5627-0593], Zhou, Huihao [0000-0002-9675-5007], He, Weiwei [0000-0002-4432-6454], Zhang, Jingjing [0000-0002-6348-3877], Weber, Thomas [0000-0002-9519-2046], Horvath, Rita [0000-0002-9841-170X], Griffin, Patrick R [0000-0002-3404-690X], Yang, Xiang-Lei [0000-0003-2554-084X], Apollo - University of Cambridge Repository

المصدر: Proceedings of the National Academy of Sciences of the United States of America

مصطلحات موضوعية: 0301 basic medicine, Protein family, medicine.medical_treatment, Primary Cell Culture, Mutant, Aminoacylation, Charcot-Marie-Tooth disease, Crystallography, X-Ray, medicine.disease_cause, Biochemistry, neuropilin 1, 03 medical and health sciences, 0302 clinical medicine, Protein Domains, Scattering, Small Angle, Neuropilin 1, medicine, Humans, Lymphocytes, Receptor, Cells, Cultured, Genetics, Mutation, Multidisciplinary, Protease, Chemistry, Alanine-tRNA Ligase, Deuterium Exchange Measurement, Biological Sciences, Neuropilin-1, Recombinant Proteins, 030104 developmental biology, Transfer RNA, AlaRS, 030217 neurology & neurosurgery, Protein Binding

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fcd45dff9c50fd9cf3a512aba7650922Test
https://doi.org/10.1073/pnas.2012898118Test

المؤلفون: Bruno Francou, Sarah Leonard-Louis, Pavel Seeman, T. Stojkovic, Michaela Auer-Grumbach, Philippe Latour, S. Hacker, Jan Senderek, D. Safka Brozkova, Reinhard Windhager, P. Fernandes Rosenegger, Stephan Züchner, Jana Haberlová, Radim Mazanec, Andrzej Kochański

المصدر: European journal of neurologyReferences. 27(12)

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Disease, 03 medical and health sciences, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Gene duplication, medicine, Missense mutation, Humans, 030212 general & internal medicine, Genetic Testing, Wasting, Genetic testing, Extracellular Matrix Proteins, medicine.diagnostic_test, business.industry, Point mutation, Median nerve, Phenotype, Neurology, FBLN5, Mutation, Neurology (clinical), medicine.symptom, business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2da7e16d68da60a0b2fa1efd074f9ed7Test
https://pubmed.ncbi.nlm.nih.gov/32757322Test

المؤلفون: Valérie Castellani, Edwige Belotti, Alexander J. Abrams, Laurent Schaeffer, Claude Alain Maurage, Tanya Stojkovic, Arnaud Jacquier, Philippe Latour, Guilhem Solé, Cécile Delorme, Marianne Giroux, Odile Dubourg, Adriana P. Rebelo, Stephan Züchner, Raoul Juntas-Morales

المصدر: Acta Neuropathologica Communications, Vol 5, Iss 1, Pp 1-15 (2017)
Acta Neuropathologica Communications

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, Mutant, Apoptosis, Caspase 3, Chick Embryo, Biology, medicine.disease_cause, Protein Aggregation, Pathological, lcsh:RC346-429, Pathology and Forensic Medicine, Mice, Young Adult, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Neurofilament Proteins, Cell Line, Tumor, medicine, Animals, Humans, Family, Amyotrophic lateral sclerosis, Gene, lcsh:Neurology. Diseases of the nervous system, Aged, Neurons, Genetics, Mutation, Research, Translation (biology), Middle Aged, Spinal cord, medicine.disease, 3. Good health, Cell biology, 030104 developmental biology, medicine.anatomical_structure, Aggresome, Spinal Cord, Female, Neurology (clinical), 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::506d8757f7a752494ad9a2686584abb9Test
http://link.springer.com/article/10.1186/s40478-017-0457-1Test

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: Klaus Dieterich, Sarah Leonard-Louis, Corinne Magdelaine, Martial Mallaret, Philippe Latour, Eric LeGuern, Alessia Peretti, Didier Vincent, Cyril Goizet, Guilhem Solé, Laurent Magy, Raul Juntas-Morales, Anne-Sophie Lia, Bruno Francou, Maud Perie, Adeline Not, Tanya Stojkovic, Françoise Bouhour, Sylvain Nollet, Fanny Duval

المساهمون: Centre de référence des maladies rares neuromusculaires, Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), University of Verona (UNIVR), CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand, Service d'Electroneuromyographie et Service de Neurologie C [Hôpital Pierre Wertheimer - HCL], Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Centre Hospitalier Universitaire [Grenoble] (CHU), CHU Bordeaux [Bordeaux], Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) (U1211 INSERM/MRGM), Université de Bordeaux (UB)-Groupe hospitalier Pellegrin-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Service de Neurologie [CHU Limoges], CHU Limoges, Centre de référence national neuropathies périphériques rares [CHU Limoges], CHU de Bordeaux Pellegrin [Bordeaux], Centre Hospitalier Régional Universitaire de Besançon (CHRU Besançon), Service de Neuroradiologie [CHU de Bicêtre], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), 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)

المصدر: European Journal of Human Genetics
European Journal of Human Genetics, Nature Publishing Group, 2019, 27 (9), pp.1406-1418. ⟨10.1038/s41431-019-0403-8⟩
Eur J Hum Genet

مصطلحات موضوعية: Biopsy, Ubiquitin-Protein Ligases, [SDV]Life Sciences [q-bio], Cell Cycle Proteins, Biology, Article, 03 medical and health sciences, Charcot-Marie-Tooth disease (CMT), LRSAM1-related neuropathies, neuropathic pain, novel variants, Sensory ataxia, Charcot-Marie-Tooth Disease, Gene duplication, Genetic variation, Genetics, medicine, Humans, Family, Amino Acid Sequence, Genetic Testing, Allele, Gene, Genetics (clinical), Alleles, Genetic testing, Adaptor Proteins, Signal Transducing, 0303 health sciences, medicine.diagnostic_test, 030305 genetics & heredity, Haplotype, Genetic Variation, Nuclear Proteins, Founder Effect, 3. Good health, Pedigree, Phenotype, France, medicine.symptom, Founder effect

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1aa3dad02eb86199118885d91fe6bc8eTest
http://hdl.handle.net/11562/996360Test

المؤلفون: Nathalie Bonello-Palot, Chiara Pisciotta, Mario Sabatelli, Rita Horvath, Stefano C. Previtali, Alessandro Geroldi, Esra Battaloglu, Julian Blake, André Mégarbané, Raquel Guimarães-Costa, Matilde Laura, Alberto A. Zambon, Angelo Schenone, Lucio Santoro, Sabrina Sacconi, Philippe Latour, Yesim Parman, Michael E. Shy, Chiara Gemelli, Irene Tramacere, Sarah Leonard-Louis, Mounia Bellatache, Nicolas Lévy, Steven S. Scherer, Byung Ok Choi, Aldo Quattrone, S. Attarian, Tatsufumi Murakami, Lois Dankwa, Paola Valentino, David N. Herrmann, Marco Luigetti, Mary M. Reilly, Stefania Magri, Fiore Manganelli, Davide Pareyson, Meriem Tazir, Chelsea Bacon, Guilhem Solé, Alessandra Bolino, Tanya Stojkovic, Giulia Ricci

المساهمون: Pareyson, D., Stojkovic, T., Reilly, M. M., Leonard-Louis, S., Laura, M., Blake, J., Parman, Y., Battaloglu, E., Tazir, M., Bellatache, M., Bonello-Palot, N., Levy, N., Sacconi, S., Guimaraes-Costa, R., Attarian, S., Latour, P., Sole, G., Megarbane, A., Horvath, R., Ricci, G., Choi, B. -O., Schenone, A., Gemelli, C., Geroldi, A., Sabatelli, M., Luigetti, M., Santoro, L., Manganelli, F., Quattrone, A., Valentino, P., Murakami, T., Scherer, S. S., Dankwa, L., Shy, M. E., Bacon, C. J., Herrmann, D. N., Zambon, A., Tramacere, I., Pisciotta, C., Magri, S., Previtali, S. C., Bolino, A., CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Institut de Myologie, Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Centre National de la Recherche Scientifique (CNRS), Sorbonne Université (SU), Service de Neurologie, CHU Mustapha, Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Institut National de la Santé et de la Recherche Médicale (INSERM)-Aix Marseille Université (AMU), Département de génétique médicale [Hôpital de la Timone - APHM], Aix Marseille Université (AMU)-Assistance Publique - Hôpitaux de Marseille (APHM)- Hôpital de la Timone [CHU - APHM] (TIMONE)-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Nice, Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA)-COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Université Pierre et Marie Curie - Paris 6 (UPMC)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Association française contre les myopathies (AFM-Téléthon)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Filière Neuromusculaire (FILNEMUS), Centre de Biologie et Pathologie Est (CBPE), Hospices Civils de Lyon (HCL)-Centre National de Référence des Légionelles, Centre de référence des maladies rares neuromusculaires Aquitaine-Grand Sud Ouest, CHU Bordeaux [Bordeaux], Unité de génétique médicale, Université Saint-Joseph de Beyrouth (USJ)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Jérôme Lejeune, CHU Trousseau [APHP], University of Pisa - Università di Pisa, Department of Neuroscience, Ophtalmology and Genetics, Genova, Università cattolica del Sacro Cuore [Roma] (Unicatt), Department of Neuroscience, Catholic University, Roma, University of Naples Federico II, Institute of Bioimaging and Molecular Physiology [Germaneto], National Research Council [Italy] (CNR), Istituto di Ricerche Farmacologiche 'Mario Negri', 20156 Milan, Human Inherited Neuropathies Unit, San Raffaele Scientific Institute-INSPE-Institute for Experimental Neurology, Dulbecco Telethon Institute, San Raffaele Scientific Institute, Bonello-Palot, Nathalie [0000-0002-8657-1271], Previtali, Stefano C [0000-0003-2546-4357], Bolino, Alessandra [0000-0002-8980-4878], Apollo - University of Cambridge Repository, Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Nice Sophia Antipolis (1965 - 2019) (UNS), Università cattolica del Sacro Cuore = Catholic University of the Sacred Heart [Roma] (Unicatt), University of Naples Federico II = Università degli studi di Napoli Federico II

المصدر: Annals of Neurology
Annals of Neurology, 2019, 86 (1), pp.55-67. ⟨10.1002/ana.25500⟩
Ann Neurol

مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Cord, Adolescent, Myotubularin, Glaucoma, Disease, Article, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Internal medicine, medicine, Humans, Young adult, Child, Loss function, Retrospective Studies, [SDV.GEN]Life Sciences [q-bio]/Genetics, business.industry, hereditary neuropathies, Retrospective cohort study, Middle Aged, Protein Tyrosine Phosphatases, Non-Receptor, medicine.disease, Phenotype, 3. Good health, Settore MED/26 - NEUROLOGIA, 030104 developmental biology, Neurology, Child, Preschool, Mutation, Female, Neurology (clinical), business, 030217 neurology & neurosurgery

وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/octet-stream; image/jpeg

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::336a02204041cbb41783b5eb0bfbc465Test
http://hdl.handle.net/11588/756025Test

المؤلفون: Hélène Beauvais-Dzugan, Franck Sturtz, Anne-Sophie Lia, Justine Lerat, Philippe Latour, Caroline Espil, Corinne Magdelaine, Paco Derouault, Karima Ghorab

المساهمون: Maintenance Myélinique et Neuropathies Périphériques (MMNP), Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Service d'Oto-rhino-laryngologie (ORL) et chirurgie cervico-faciale [CHU Limoges], CHU Limoges, Service de Biochimie et Génétique Moléculaire [CHU Limoges], Service de Pédiatrie, Bordeaux (Pellegrin-Enfants), Service de Neurologie [CHU Limoges], Service de Neurologie [Lyon], CHU Lyon

المصدر: Journal of the Peripheral Nervous System
Journal of the Peripheral Nervous System, Wiley-Blackwell, 2018, 24 (1), pp.139-144. ⟨10.1111/jns.12310⟩

مصطلحات موضوعية: Charcot-Marie-Tooth, Neurofilament, Hearing Loss, Sensorineural, Neurofilament light, [SDV]Life Sciences [q-bio], Biology, Deafness, DNA sequencing, 03 medical and health sciences, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Neurofilament Proteins, medicine, Humans, Intermediate filament, Aged, Genetics, General Neuroscience, High-Throughput Nucleotide Sequencing, medicine.disease, Neuropathy, NEFL, Review Literature as Topic, Peripheral neuropathy, Radial growth, 030220 oncology & carcinogenesis, Female, Sensorineural hearing loss, Neurology (clinical), Motor neuropathy, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5e588b50d172dcb5ec7a3f273ffa63f8Test
https://hal.archives-ouvertes.fr/hal-03271683Test