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المؤلفون: Patrick Aubourg, Jean-Marie Cuisset, Philippe Latour, Kouider Beladgham, Jimmy Perrot, Lucie Guyant-Marechal, Bruno Francou, Laurent Kremer, Naziha Baaloul, Alain Verloes, Andoni Echaniz-Laguna
المصدر: neurogenetics. 21:29-37
مصطلحات موضوعية: Male, 0301 basic medicine, Pediatrics, medicine.medical_specialty, Weakness, Pes cavus, Adolescent, Encephalopathy, Consanguinity, 03 medical and health sciences, Cellular and Molecular Neuroscience, 0302 clinical medicine, Genetics, medicine, Humans, Child, Genetics (clinical), Retrospective Studies, Giant axonal neuropathy, business.industry, Gigaxonin, Brain, medicine.disease, Cytoskeletal Proteins, 030104 developmental biology, medicine.anatomical_structure, Giant Axonal Neuropathy, Child, Preschool, Peripheral nervous system, Mutation, Female, medicine.symptom, business, Polyneuropathy, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cf73fbd55646164395f49a904066a0d8Test
https://doi.org/10.1007/s10048-019-00596-zTest -
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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 Communicationsمصطلحات 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 -
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المؤلفون: Céline Bonnet, Tarik Hamadouche, Bertrand Degos, Philippe Latour, Andoni Echaniz-Laguna, Nicolas Lévy, Bruno Leheup
المصدر: Neuromuscular Disorders. 17:163-168
مصطلحات موضوعية: Central Nervous System, Male, Pathology, medicine.medical_specialty, Roma, Adolescent, Central nervous system, Cell Cycle Proteins, Disease, Deafness, Audiology, Biology, Clinical knowledge, Polyneuropathies, Tooth disease, Charcot-Marie-Tooth Disease, medicine, Humans, Demyelinating polyneuropathy, Genetics (clinical), Muscle Weakness, medicine.diagnostic_test, Reverse Transcriptase Polymerase Chain Reaction, Intracellular Signaling Peptides and Proteins, Brain, Magnetic resonance imaging, DNA, Magnetic Resonance Imaging, Hyperintensity, Pedigree, Electrophysiology, Phenotype, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Female, Neurology (clinical), Demyelinating Diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be5f53145e18e1e78dea70b5f6825223Test
https://doi.org/10.1016/j.nmd.2006.10.002Test -
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المؤلفون: Philippe Latour, Marie T. Vanier
مصطلحات موضوعية: Pathology, medicine.medical_specialty, Niemann–Pick disease, type C, Cholesterol, Endosome, Biology, medicine.disease, Filipin, Pathogenesis, chemistry.chemical_compound, medicine.anatomical_structure, chemistry, Lysosome, Immunology, medicine, lipids (amino acids, peptides, and proteins), NPC1, Late endosome
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::7aa0a4bf73a0c3be0c2aba3fa998e276Test
https://doi.org/10.1016/bs.mcb.2014.10.028Test -
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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 -
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المؤلفون: Philippe Latour, Yolaine Ollivier, Armelle Magot, Yann Péréon, Julie Perrier, Thierry Maisonobe, Sandra Mercier
المصدر: Neuromuscular disorders : NMD. 25(2)
مصطلحات موضوعية: Male, Pes cavus, Adolescent, BSCL2, Neural Conduction, Physical examination, Nerve conduction velocity, Forearm, Lipodystrophy, Congenital Generalized, GTP-Binding Protein gamma Subunits, medicine, Reaction Time, Humans, Muscle, Skeletal, Genetics (clinical), Family Health, medicine.diagnostic_test, business.industry, Anatomy, Middle Aged, medicine.disease, Amyotrophy, Electrophysiology, medicine.anatomical_structure, Neurology, Pediatrics, Perinatology and Child Health, Mutation, Female, Neurology (clinical), France, Motor Deficit, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ed08ec720eb928a45eaa9565e36eab98Test
https://pubmed.ncbi.nlm.nih.gov/25454168Test -
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المؤلفون: Christiane Brechenmacher, Alain Lagueny, Philippe Latour, Anne Vital, Claude Vital, Marie Rouanet-Larivière, Xavier Ferrer
المصدر: Journal of Neuropathology & Experimental Neurology. 63:1167-1172
مصطلحات موضوعية: Adult, Male, Retrograde Degeneration, Pathology, medicine.medical_specialty, Adolescent, Biopsy, Pathology and Forensic Medicine, Mononeuropathy, Cellular and Molecular Neuroscience, Myelin, medicine, Paralysis, Humans, Family history, Myelin Sheath, Aged, Retrospective Studies, Palsy, medicine.diagnostic_test, business.industry, General Medicine, Middle Aged, medicine.disease, Axons, medicine.anatomical_structure, Neurology, Female, Neurology (clinical), medicine.symptom, Hereditary Sensory and Motor Neuropathy, business, Polyneuropathy, Gene Deletion, Chromosomes, Human, Pair 17, Demyelinating Diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bfea538b933fb6f8a6e28163bafcebbTest
https://doi.org/10.1093/jnen/63.11.1167Test -
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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 -
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المؤلفون: I Bernard, Alain Lagueny, A. Vital, Antoon Vandenberghe, G Le Masson, Yusuf A. Rajabally, Xavier Ferrer, Philippe Latour, Jean Julien, Claude Vital
المصدر: Neuromuscular Disorders. 9:361-367
مصطلحات موضوعية: Adult, Male, Restriction Mapping, Peripheral myelin, Biology, Gene mutation, medicine.disease_cause, Myelin, Nerve Fibers, Charcot-Marie-Tooth Disease, Peripheral nerve, Extracellular, medicine, Humans, Point Mutation, Peripheral Nerves, Muscle, Skeletal, Myelin Sheath, Polymorphism, Single-Stranded Conformational, Genetics (clinical), Genetics, Mutation, Chromosome Mapping, Exons, Middle Aged, Phenotype, Pedigree, Molecular analysis, medicine.anatomical_structure, Amino Acid Substitution, Neurology, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), Myelin P0 Protein, Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39af762c45bb17f2a88c5a2a5e1e2afcTest
https://doi.org/10.1016/s0960-8966Test(99)00031-0 -
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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