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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: 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: 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: Laetitia Boutrand, Antoon Vandenberghe, Philippe Latour, Francine Claustrat, Michel Boucherat, Nicolas Lévy, Guy Chazot, Rafaëlle Bernard, Amandine Boyer
المصدر: Clinical Chemistry. 47:829-837
مصطلحات موضوعية: Genetics, education.field_of_study, Biochemistry (medical), Clinical Biochemistry, Population, Biology, Polymerase Chain Reaction, law.invention, Loss of heterozygosity, Charcot-Marie-Tooth Disease, Tandem Repeat Sequences, law, Genetic marker, Gene Duplication, Genotype, Gene duplication, Humans, Microsatellite, Electrophoresis, Polyacrylamide Gel, education, Myelin Proteins, Polymerase chain reaction, Chromosomes, Human, Pair 17, Southern blot
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5d44e961adc57e1ced5991837499170Test
https://doi.org/10.1093/clinchem/47.5.829Test -
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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: Francesco Palau, Merle Ruberg, Kaisa Silander, Antoon Vandenberghe, S. Tardieu, Ian P. Blair, Alexis Brice, Judith Lopes, Eric LeGuern
المصدر: Publons
مصطلحات موضوعية: Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, DNA Repair, DNA damage, DNA repair, Saccharomyces cerevisiae, Biology, chemistry.chemical_compound, Charcot-Marie-Tooth Disease, Genetics, Humans, Gene conversion, Molecular Biology, Genetics (clinical), Recombination, Genetic, Models, Genetic, DNA, General Medicine, Gene rearrangement, Double Strand Break Repair, chemistry, DNA mismatch repair, Hereditary Sensory and Motor Neuropathy, Chromosomes, Human, Pair 17, DNA Damage, Heteroduplex
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8303a7f782f896cd2719e86d2dc2d34Test
https://doi.org/10.1093/hmg/8.12.2285Test -
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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 -
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المؤلفون: Ahmed Bouhouche, Mohamed Yahyaoui, T. Chkili, Antoon Vandenberghe, Nazha Birouk, Angélique Mularoni, Djamal Grid, Johann Tassin, Ali Benomar, Alexis Brice, Eric LeGuern, Farid Meggouh
المساهمون: Other departments
المصدر: American journal of human genetics, 65(3), 722-727. Cell Press
مصطلحات موضوعية: Adult, Genetic Markers, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, Locus (genetics), Genes, Recessive, Genetic mapping, Consanguinity, Biology, Charcot-Marie-Tooth disease, P0 gene, Genetic determinism, Gene mapping, Autosomal recessive form, Genetics, Humans, Genetics(clinical), Age of Onset, Child, Chromosomes, Artificial, Yeast, Genetics (clinical), Recombination, Genetic, Haplotype, Homozygote, Axonal form, Chromosome, Chromosome Mapping, Middle Aged, Axons, Pedigree, Morocco, Haplotypes, Genetic marker, Chromosomes, Human, Pair 1, Chromosome 1q21.2-q21.3, Female, Age of onset, Lod Score, Myelin P0 Protein, Research Article
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28df11cb04624edf0cbea80cff137fbaTest
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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