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المؤلفون: J. Gheuens, J. J. Martin, Michael Mullan, Gerd Multhaup, N.G. Irving, Antoon Vandenberghe, Hugh Gurling, W. Van Hul, A. Genthe, John Hardy, A. Wehnert, A. Barton, M. Salbaum, Bernhard Horsthemke, Marc Bruyland, H Backhovens, S. J. Richards, Konrad Beyreuther, C. Van Broeckhoven, A. Holland, Robert Williamson, Colin L. Masters, Peter Raeymaekers, Patrick Cras
المصدر: Nature
مصطلحات موضوعية: Adult, Male, Amyloid, Chromosomes, Human, Pair 21, Genetic Linkage, Locus (genetics), Disease, Biology, Alzheimer Disease, Genetic linkage, medicine, Humans, Senile plaques, Protein Precursors, Genetics, Amyloid beta-Peptides, Polymorphism, Genetic, Multidisciplinary, Molecular pathology, Chromosome Mapping, medicine.disease, Pedigree, Genes, Female, Alzheimer's disease, Chromosome 21, Engineering sciences. Technology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f73777dee0f802153a1b26c3c1a5967aTest
https://doi.org/10.1038/329153a0Test -
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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 -
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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 -
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المؤلفون: Antoon Vandenberghe, Alain Lachaux, Michèle Accominotti, Muriel Bost
المصدر: The Journal of Trace Elements in Experimental Medicine. 12:321-329
مصطلحات موضوعية: Genetics, Haplotype, Locus (genetics), Single-strand conformation polymorphism, Biology, Chronic liver disease, medicine.disease, Biochemistry, Molecular biology, Exon, medicine, Polymorphic Microsatellite Marker, Missense mutation, Gene
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::dbea9b145fe06a82288d44a923ccb6a2Test
https://doi.org/10.1002Test/(sici)1520-670x(1999)12:4<321::aid-jtra5>3.0.co;2-y -
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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 -
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المؤلفون: J.L Besse, Pierre-Marie Gonnaud, G. Chazot, Franck Sturtz, Antoon Vandenberghe
المصدر: Archives de Pédiatrie. 2:70-78
مصطلحات موضوعية: Pathology, medicine.medical_specialty, business.industry, Disease, medicine.disease, Muscle hypertrophy, Chromosome 17 (human), Central nervous system disease, Degenerative disease, Pediatrics, Perinatology and Child Health, medicine, Abnormality, business, Hereditary motor and sensory neuropathy, Pathological
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::c2f16676a97e3bffbb9361ab0dc2999bTest
https://doi.org/10.1016/0929-693xTest(96)89813-7 -
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المؤلفون: J.J. Martin, John Hardy, Alison Goate, Martin N. Rossor, C. Van Broeckhoven, A. Hofman, Antoon Vandenberghe, C M van Duijn, Michael Mullan
المصدر: The British journal of psychiatry
Scopus-Elsevierمصطلحات موضوعية: Genetic Markers, Chromosomes, Human, Pair 21, Genetic Linkage, Genetic counseling, Population, Chromosome Disorders, Locus (genetics), Biology, 03 medical and health sciences, 0302 clinical medicine, Alzheimer Disease, Risk Factors, Genetic linkage, medicine, Humans, Early-onset Alzheimer's disease, 030212 general & internal medicine, Allele, education, Alleles, Aged, Genes, Dominant, Chromosome Aberrations, Genetics, education.field_of_study, Models, Genetic, Genetic Carrier Screening, Middle Aged, medicine.disease, 030227 psychiatry, Psychiatry and Mental health, Allelic heterogeneity, Age of onset
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c70ad08011c348c79b3f8050ef157e93Test
https://doi.org/10.1192/bjp.158.4.471Test -
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المؤلفون: Nicole Philip, Philippe Latour, Perrine Malzac, Amandine Boyer, P. Negre, Rafaëlle Bernard, Antoon Vandenberghe, Nicolas Lévy
المصدر: European journal of human genetics : EJHG. 10(5)
مصطلحات موضوعية: Genetic Markers, Male, Pediatrics, medicine.medical_specialty, Genetic counseling, Prenatal diagnosis, Disease, Genetic Heterogeneity, Charcot-Marie-Tooth Disease, Pregnancy, Prenatal Diagnosis, Gene duplication, Genetics, medicine, Humans, Genetics (clinical), Fetus, business.industry, Genetic heterogeneity, medicine.disease, Charcot-Marie-Tooth Disease Type 1A, Pedigree, Fetal Diseases, Female, business, Gene Deletion, Chromosomes, Human, Pair 17
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a586e28087ad8108865355fad3fe17fcTest
https://pubmed.ncbi.nlm.nih.gov/12082504Test