يعرض 1 - 10 نتائج من 16 نتيجة بحث عن '"Antoon Vandenberghe"', وقت الاستعلام: 0.71s تنقيح النتائج
  1. 1
    Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene

    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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  2. 2
    Mild recurrent neuropathy in CMT1B with a novel nonsense mutation in the extracellular domain of the MPZ gene

    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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  3. 3
    Chronic inflammatory demyelinating polyneuropathy caused by HIV infection in a patient with asymptomatic CMT 1A

    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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  4. 4
    Demyelinating X-linked Charcot-Marie-Tooth disease: Unusual electrophysiological findings

    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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  5. 5
    Modelization of Motor Nerve Conduction Velocities for Charcot-Marie-Tooth (Type-1) Patients

    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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  6. 6
    La neuropathie héréditaire sensitivomotrice de Charcot-Marie-Tooth

    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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  7. 7
    Prenatal detection of the 17p11.2 duplication in Charcot-Marie-Tooth disease type 1A: necessity of a multidisciplinary approach for heterogeneous disorders

    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


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  8. 8
    Histopathological features of X-linked Charcot-Marie-Tooth disease in 8 patients from 6 families with different connexin32 mutations

    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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  9. 9
    Myelin widenings and MGUS-IgA: An immunoelectron microscopic study

    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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  10. 10
    Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene

    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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