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1
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 -
2
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: 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 -
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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 -
9
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 -
10
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