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

المؤلفون: Nisrine Bissar-Tadmouri, Piraye Serdaroglu, Yesim Parman, L Boutrand, Feza Deymeer, Antoon Vandenberghe, Esra Battaloglu

المصدر: Clinical Genetics. 58:396-402

مصطلحات موضوعية: Genetics, education.field_of_study, Myelin protein zero, Point mutation, Locus (genetics), Biology, Frameshift mutation, Genotype, Gene duplication, Connexin 32, education, Gene, Genetics (clinical)

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::cdea0c3e5853b6b95298dd650606b876Test
https://doi.org/10.1034/j.1399-0004.2000.580511.xTest

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

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

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

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

المؤلفون: Philippe Latour, Antoon Vandenberghe, André Dautigny, Emmanuel Corbillon, Jacques Battin, Catherine Ressot, Elizabeth Ollagnon, Françoise Serville, Franck Sturtz, Sylvie Duthel, Danielle Pham-Dinh, Françoise Blanquet-Grossard

المصدر: Human genetics. 98(2)

مصطلحات موضوعية: Male, X Chromosome, Genetic Linkage, Nonsense mutation, Biology, medicine.disease_cause, Diagnostic tools, Polymerase Chain Reaction, Connexins, Charcot-Marie-Tooth Disease, Genetics, medicine, Missense mutation, Coding region, Humans, Point Mutation, Amino Acid Sequence, Codon, Gene, Genetics (clinical), Polymorphism, Single-Stranded Conformational, Genes, Dominant, Mutation, Base Sequence, DNA, Human genetics, Pedigree, Codon, Nonsense, Female, X-linked dominant

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59acb3d7f6ed0dd25dc93ed4a2594848Test
https://pubmed.ncbi.nlm.nih.gov/8698335Test

المؤلفون: C. Vial, Antoon Vandenberghe, J. M. Warter, C. Bonnebouche, Pierre-Marie Gonnaud, B. Bady, A. S. Brechard, V. Fourbil, C. Tranchant, Guy Chazot, Franck Sturtz

المصدر: Acta neurologica Scandinavica. 92(4)

مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Adolescent, Genotype, Asymptomatic, Paralysis, medicine, Humans, Point Mutation, Allele, Genotyping, Alleles, Ulnar Nerve, Palsy, business.industry, Point mutation, Peroneal Nerve, General Medicine, DNA, Middle Aged, medicine.disease, Dermatology, Median Nerve, Neurology, Mutagenesis, Female, Neurology (clinical), medicine.symptom, Chromosome Deletion, Tibial Nerve, business, Hereditary Sensory and Motor Neuropathy, Polyneuropathy

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba75f66a17e7081c34a569f73ae7c6cbTest
https://pubmed.ncbi.nlm.nih.gov/8848937Test

المؤلفون: Christine Bonnebouche, P Diraison, Eva Nelis, Christine Van Broeckhoven, Danielle Pham-Dinh, Michel Boucherat, Françoise Blanquet, Antoon Vandenberghe, Guy Chazot, André Dautigny, Fraņoise Chapon, Philippe Latour, Elisabeth Ollagnon

المصدر: Human mutation

مصطلحات موضوعية: Genetics, congenital, hereditary, and neonatal diseases and abnormalities, Mutation, Base Sequence, Point mutation, Myelin protein zero, DNA Mutational Analysis, Molecular Sequence Data, Chromosome, Biology, medicine.disease_cause, nervous system diseases, Charcot-Marie-Tooth Disease Type 1B, Charcot-Marie-Tooth Disease, Peripheral myelin protein 22, Gene duplication, medicine, Humans, Point Mutation, Gene, Myelin P0 Protein, Genetics (clinical), Polymorphism, Single-Stranded Conformational

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1f8df2840742d190b36bca036dfb86eTest
https://pubmed.ncbi.nlm.nih.gov/7550231Test

المؤلفون: Feza Deymeer, Nisrine Bissar-Tadmouri, Yesim Gulsen-Parman, Piraye Serdaroglu, Esra Battaloglu, Antoon Vandenberghe, Philippe Latour

المصدر: Human Mutation. 14:449-449

مصطلحات موضوعية: Adult, Male, Turkey, Turkish, Molecular Sequence Data, Mutation, Missense, Biology, Type (biology), Charcot-Marie-Tooth Disease, Genetics, Humans, Point Mutation, Coding region, Amino Acid Sequence, Gene, Polymorphism, Single-Stranded Conformational, Genetics (clinical), Base Sequence, Myelin protein zero, Sequence Analysis, DNA, Middle Aged, language.human_language, Mutagenesis, Insertional, Amino Acid Substitution, Chromosomes, Human, Pair 1, language, Female, Chromosome Deletion, Myelin P0 Protein

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1cb128b405745999000445f2d279c49aTest
https://doi.org/10.1002Test/(sici)1098-1004(199911)14:5<449::aid-humu17>3.0.co;2-h