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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 -
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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 -
3
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 -
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المؤلفون: Nathalie Roeckel, Blanquet F, André Dautigny, Marie Geneviève Mattei, Philippe Latour, Guy Chazot, Danielle Pham-Dinh, Antoon Vandenberghe, Fourbil Y
المصدر: Human Molecular Genetics. 2:2051-2054
مصطلحات موضوعية: Yeast artificial chromosome, congenital, hereditary, and neonatal diseases and abnormalities, Genetic Linkage, Cell Adhesion Molecules, Neuronal, Molecular Sequence Data, Restriction Mapping, Biology, Polymerase Chain Reaction, Myelin, Gene mapping, Charcot-Marie-Tooth Disease, Gene cluster, Leukocytes, Genetics, medicine, Humans, Amino Acid Sequence, Receptor, Chromosomes, Artificial, Yeast, Molecular Biology, Gene, Genetics (clinical), DNA Primers, Polymorphism, Genetic, Base Sequence, Genes, Immunoglobulin, Receptors, IgG, Nucleic acid sequence, Chromosome Mapping, Chromosome, Exons, General Medicine, medicine.anatomical_structure, Chromosomes, Human, Pair 1, Immunoglobulin G, Multigene Family, Myelin P0 Protein, Myelin Proteins, Demyelinating Diseases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::580850ffeeaf36639f3e3c0f999dfb92Test
https://doi.org/10.1093/hmg/2.12.2051Test -
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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 -
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المؤلفون: S Schaeffer, P Diraison, Françoise Chapon, Antoon Vandenberghe, Philippe Latour
مصطلحات موضوعية: Adult, Male, Pathology, medicine.medical_specialty, Adolescent, Short Report, Sural nerve, Biology, Central nervous system disease, Myelin, Degenerative disease, Sural Nerve, Charcot-Marie-Tooth Disease, medicine, Humans, Age of Onset, Nerve biopsy, medicine.diagnostic_test, Myelin protein zero, Anatomy, Middle Aged, medicine.disease, Axons, Pedigree, Psychiatry and Mental health, Microscopy, Electron, Peripheral neuropathy, medicine.anatomical_structure, Phenotype, Mutation, Surgery, Female, Neurology (clinical), Age of onset, Myelin P0 Protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64ba8e7358c055114ceccdf981947e31Test
https://europepmc.org/articles/PMC1736388Test/ -
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المؤلفون: Jean-Jacques Hauw, Jean-Michel Vallat, Françoise Chapon, Thierry Maisonobe, Juan-José Archelos, Kyle G. Braund, F. Tabaraud, Philippe Sindou, Thierry Anani, Antoon Vandenberghe
المساهمون: Department of Neurology, University Hospital, 2 Avenue Martin Luther King, 87042 Limoges, Franc, Department of Neurology, University Hospital, Caen, France, Department of Neurology and Multiple Sclerosis Research Group,Julius-Maximilians-Universita ̈t, Wu ̈ rzburg, Germany, Scott-Ritchey Research Center, College of Veterinary Medicine, Auburn, Alabama, USA, Service de Neurophysiologie [CHU Pitié-Salpêtrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Académie nationale de médecine, Department of Molecular Neurogenetics, Claude Bernard University, Lyon I, France
المصدر: Muscle & nerve. Supplement.
Muscle & nerve. Supplement., 1999, 22 (1), pp.99-104. ⟨10.1002/(SICI)1097-4598(199901)22:13.0.CO;2-5⟩مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Mutation, Physiology, Point mutation, [SDV.BC]Life Sciences [q-bio]/Cellular Biology, Biology, medicine.disease_cause, Phenotype, Cellular and Molecular Neuroscience, Exon, Myelin, medicine.anatomical_structure, Compact myelin, Physiology (medical), Gene expression, medicine, Neurology (clinical), Gene, ComputingMilieux_MISCELLANEOUS
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b3f54e8f4e7a8484bb72e58656a5779Test
https://hal.archives-ouvertes.fr/hal-02504135Test -
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المؤلفون: Antoon Vandenberghe, A. Wehnert, J. J. Martin, W. Van Hul, G. Van Camp, C. Van Broeckhoven, H Backhovens, G. De Winter, J. Gheuens, Piet Stinissen, Marc Bruyland, P Raeymaekers
المصدر: Neuropsychopharmacology ISBN: 9783642740367
Neuropsychopharmacology / Bunney, W.E. [edit.]مصطلحات موضوعية: business.industry, Hippocampus, Pedigree chart, Autopsy, Disease, medicine.anatomical_structure, Cerebral cortex, Genetic marker, Immunology, Medicine, Human medicine, Senile plaques, Family history, business, Biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2726cac7c4884c90f5c4cffe54fbee0fTest
https://doi.org/10.1007/978-3-642-74034-3_9Test -
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المؤلفون: N Vandenberghe, Guy Chazot, A Gatignol, M Boucherat, M Upadhyaya, L. Boutrand, Antoon Vandenberghe, Philippe Latour
المصدر: Journal of Medical Genetics. 39:81e-81
مصطلحات موضوعية: Male, Early Growth Response Protein 2, DNA Mutational Analysis, Schwann cell, Myelin, Gene Frequency, Charcot-Marie-Tooth Disease, Peripheral myelin protein 22, Genetics, medicine, Humans, Genetic Testing, education, Polymorphism, Single-Stranded Conformational, Genetics (clinical), Zinc finger, education.field_of_study, biology, Myelin protein zero, Zinc Fingers, Myelin basic protein, DNA-Binding Proteins, Hereditary Central Nervous System Demyelinating Diseases, Phenotype, medicine.anatomical_structure, Mutation, biology.protein, Connexin 32, Female, Online Mutation Report, Transcription Factors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::065da6edfad46a37cd94ae26179126c1Test
https://doi.org/10.1136/jmg.39.12.e81Test