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1
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 -
2
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 -
3
المؤلفون: Jimmy Perrot, Tanya Stojkovic, Guenaelle Piguet-Lacroix, Marion Masingue, Robert-Yves Carlier, Philippe Latour
المصدر: Neurogenetics. 19(2)
مصطلحات موضوعية: 0301 basic medicine, Adult, Genes, Recessive, Nerve Tissue Proteins, Biology, 03 medical and health sciences, Cellular and Molecular Neuroscience, Consanguinity, Young Adult, 0302 clinical medicine, Charcot-Marie-Tooth Disease, Exome Sequencing, Genetics, Coding region, Humans, Gene, Genetics (clinical), Exome sequencing, Genetic heterogeneity, Siblings, Alternative splicing, Homozygote, Intron, Disease gene identification, Stop codon, Pedigree, 030104 developmental biology, Codon, Nonsense, Female, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5084be1a87b6133ef0b040d4c8fae405Test
https://pubmed.ncbi.nlm.nih.gov/29396836Test -
4
المؤلفون: Dominique Bozon, Rafaëlle Bernard, Véronique Bonnet, Robert Rousson, Nathalie Bonello, Pierre Labauge, Shahram Attarian, Philippe Latour, Hervé Crehalet, Gilles Millat
المصدر: neurogenetics. 11:13-19
مصطلحات موضوعية: Adult, Male, RNA Splicing, Prp24, Biology, U1 snRNA binding, Cellular and Molecular Neuroscience, Exon, Charcot-Marie-Tooth Disease, RNA, Small Nuclear, Genetics, Humans, snRNP, Genetics (clinical), Polymorphism, Genetic, Splice site mutation, Intracellular Signaling Peptides and Proteins, Intron, Exons, Middle Aged, Phosphoproteins, Molecular biology, Introns, Pedigree, Mutation, RNA splicing, Female, HeLa Cells, Minigene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::310d956ce88c1a225e5d32d69214c6b4Test
https://doi.org/10.1007/s10048-009-0199-8Test -
5
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 -
6
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: P Clavelou, M Paret, Elisabeth Ollagnon, Nicolas Lévy, R Dumas, A Setiey, Antoon Vandenberghe, Guy Chazot, P Couratier, Michel Fontes, Françoise Chapon, M Boucherat, Jean-Michel Vallat, Jean Pouget, Philippe Latour
المصدر: neurogenetics. 1:117-123
مصطلحات موضوعية: Adult, Male, X Chromosome, Adolescent, Genetic Linkage, DNA Mutational Analysis, Population, Biology, medicine.disease_cause, Connexins, Cellular and Molecular Neuroscience, Charcot-Marie-Tooth Disease, Genetic linkage, Genetics, medicine, Humans, Point Mutation, Child, education, Gene, Polymorphism, Single-Stranded Conformational, Genetics (clinical), Aged, Sequence Deletion, Family Health, education.field_of_study, Mutation, Point mutation, Single-strand conformation polymorphism, DNA, Middle Aged, Human genetics, Median Nerve, Pedigree, Amino Acid Substitution, CpG site, Female, France, Demyelinating Diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45258c3a582d309c819502dd4d64cd70Test
https://doi.org/10.1007/s100480050017Test -
8A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression
المؤلفون: Armelle Magot, Jean-Marie Mussini, Yann Péréon, Philippe Latour, Reda Mourtada, Pierre Guihéneuc
المصدر: Musclenerve. 38(2)
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Physiology, Nonsense mutation, DNA Mutational Analysis, Neural Conduction, Gene mutation, medicine.disease_cause, Cellular and Molecular Neuroscience, Myelin, Exon, Charcot-Marie-Tooth Disease, Physiology (medical), medicine, Humans, Family Health, Mutation, Transition (genetics), business.industry, Myelin protein zero, Nerve Compression Syndromes, Exons, Middle Aged, Phenotype, medicine.anatomical_structure, Codon, Terminator, Tyrosine, Female, Neurology (clinical), business, Neuroscience, Myelin P0 Protein, Follow-Up Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48ae6502512efdbce815d0bf0a84474cTest
https://pubmed.ncbi.nlm.nih.gov/18663734Test -
9
المؤلفون: M Barat, Philippe Latour, Alain Lagueny, Claude Vital, Anne Vital
المصدر: Musclenerve. 22(8)
مصطلحات موضوعية: medicine.medical_specialty, Pathology, Physiology, Neural Conduction, Schwann cell, Motor nerve, Cellular and Molecular Neuroscience, Polyneuropathies, Cerebrospinal fluid, Physiology (medical), Biopsy, medicine, Humans, education, Child, education.field_of_study, medicine.diagnostic_test, business.industry, Electromyography, Muscles, Superficial peroneal nerve, Muscle weakness, medicine.disease, Surgery, Microscopy, Electron, medicine.anatomical_structure, Connexin 32, Female, Neurology (clinical), medicine.symptom, business, Polyneuropathy, Demyelinating Diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa9fdf42b1491b8e9dbc3dd46867d63cTest
https://pubmed.ncbi.nlm.nih.gov/10417801Test