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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 -
2
المؤلفون: Philippe Latour, Jérôme De Seze, Patrick Vermersch, Antoon Vandenberghe, J.-F. Hurtevent, Tanya Stojkovic, Ghislaine Viet
المصدر: Neuromuscular Disorders. 14:261-264
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Pes cavus, Cord, DNA Mutational Analysis, Neural Conduction, Nerve Tissue Proteins, medicine.disease_cause, Frameshift mutation, Charcot-Marie-Tooth Disease, Reaction Time, Paralysis, Humans, Medicine, Vocal cord paralysis, Evoked Potentials, Genetics (clinical), Family Health, Mutation, business.industry, Genetic heterogeneity, Muscles, Siblings, Anatomy, medicine.disease, Respiratory Paralysis, Electric Stimulation, Stop codon, Neurology, Pediatrics, Perinatology and Child Health, Female, France, Neurology (clinical), medicine.symptom, business, Vocal Cord Paralysis, Thymidine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::296f8faeeb710abed311eb508be974b7Test
https://doi.org/10.1016/j.nmd.2004.01.003Test -
3
المؤلفون: Xavier Ferrer, Philippe Latour, Marie Rouanet, Claude Vital, Alain Lagueny, A. Vital, G Le Masson, Antoon Vandenberghe
المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 70:232-235
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Nonsense mutation, Neural Conduction, Short Report, Exon, Recurrence, Humans, Medicine, Transversion, Nerve biopsy, medicine.diagnostic_test, business.industry, Point mutation, Heterozygote advantage, Tetracycline, Phenotype, Pedigree, Psychiatry and Mental health, Codon, Nonsense, Mutation (genetic algorithm), Female, Surgery, Neurology (clinical), Nervous System Diseases, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::19706f650d389b401a997386723b3c26Test
https://doi.org/10.1136/jnnp.70.2.232Test -
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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 -
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المؤلفون: Jean-Michel Vallat, Philippe Sindou, Antoon Vandenberghe, E. Lagrange, F. Tabaraud, Nicolas Lévy
المصدر: Muscle & Nerve. 22:1442-1447
مصطلحات موضوعية: education.field_of_study, Pathology, medicine.medical_specialty, Nerve biopsy, medicine.diagnostic_test, Physiology, business.industry, Motor nerve, Disease, medicine.disease, Central nervous system disease, Cellular and Molecular Neuroscience, Electrophysiology, Tooth disease, Degenerative disease, Physiology (medical), medicine, Connexin 32, Neurology (clinical), education, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::6276f2b6da5ab0484b5e979e59a9aca3Test
https://doi.org/10.1002Test/(sici)1097-4598(199910)22:10<1442::aid-mus16>3.0.co;2-6 -
6
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: Franck Sturtz, Guy Chazot, Antoon Vandenberghe, Cruz S, Mabin D, Philippe Latour, Mocquard Y, Fenoll B, LeFur Jm
المصدر: European Neurology. 38:26-30
مصطلحات موضوعية: Adult, Male, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, Neural Conduction, Motor nerve, Biology, Nerve conduction velocity, Central nervous system disease, Degenerative disease, Charcot-Marie-Tooth Disease, Gene duplication, medicine, Humans, Age of Onset, Child, Genetics, Homozygote, Heterozygote advantage, DNA, Anatomy, medicine.disease, Phenotype, Pedigree, Electrophysiology, Chromosome 17 (human), Scoliosis, Neurology, Multigene Family, Female, Neurology (clinical), Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f900f9fac1443a26c257bec7be0d45bTest
https://doi.org/10.1159/000112898Test -
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المؤلفون: C. Bonnebouche, B. Bady, Guy Chazot, F. Chauvin, M. Bost, Philippe Latour, Franck Sturtz, E. Ollagnon-Roman, Antoon Vandenberghe, Pierre-Marie Gonnaud
المصدر: European Neurology. 36:224-228
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Motor nerve conduction velocity, Motor nerve, Anatomy, medicine.disease, Median nerve, Central nervous system disease, Chromosome 17 (human), Degenerative disease, Neurology, Peripheral nerve, Gene duplication, medicine, Neurology (clinical), business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::0b4e889ac538f3b0fa8795145d82d18fTest
https://doi.org/10.1159/000117254Test -
9
المؤلفون: Alain Lagueny, Pierre Louiset, Antoon Vandenberghe, Anne Vital, Xavier Ferrer, Marie‐Hélène Canron, Claude Vital, Klaus G. Petry, Philippe Latour, Cyril Goizet
المصدر: Journal of the peripheral nervous system : JPNS. 6(2)
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, X Chromosome, Adolescent, Genotype, Genetic Linkage, DNA Mutational Analysis, Schwann cell, Cell Count, Biology, Connexins, Tooth disease, Myelin, Charcot-Marie-Tooth Disease, Biopsy, medicine, Humans, Axon, Nerve Tissue, Muscle, Skeletal, medicine.diagnostic_test, General Neuroscience, Superficial peroneal nerve, Anatomy, Axons, Pedigree, Microscopy, Electron, medicine.anatomical_structure, nervous system, Mutation, Ultrastructure, Female, Endoneurium, Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d4c9d0a6b98230e41096256985025edTest
https://pubmed.ncbi.nlm.nih.gov/11446387Test -
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المؤلفون: Philippe Sindou, A. J. Steck, Jean-Michel Vallat, F. Tabaraud, Pierre-Marie Preux, Antoon Vandenberghe
المساهمون: Service de Neurologie [CHU Limoges], CHU Limoges, Department of Neurology, University Hospital, 2 Avenue Martin Luther King, 87042 Limoges, Franc, Neuroépidémiologie Tropicale (NET), Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM)-CHU Limoges-Institut d'Epidémiologie Neurologique et de Neurologie Tropicale-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Molecular Neurogenetics, Claude Bernard University, Lyon I, France, Department of Neurology, UniversityClinics, Basel, Switzerland.
المصدر: Annals of Neurology
Annals of Neurology, Wiley, 2000, 47 (6), pp.808-811. ⟨10.1002/1531-8249(200006)47:63.0.CO;2-8⟩مصطلحات موضوعية: chemistry.chemical_classification, Pathology, medicine.medical_specialty, business.industry, Immunoelectron microscopy, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, medicine.disease, 3. Good health, law.invention, Myelin, medicine.anatomical_structure, Neurology, chemistry, law, Immunopathology, Monoclonal, Medicine, Neurology (clinical), Electron microscope, business, Dysglobulinemia, Glycoprotein, Polyneuropathy, ComputingMilieux_MISCELLANEOUS
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::20a7470259c8c55079659e7458d772b4Test
https://hal.archives-ouvertes.fr/hal-02504280Test