يعرض 1 - 2 نتائج من 2 نتيجة بحث عن '"Pierre-Marie Gonnaud"', وقت الاستعلام: 0.62s تنقيح النتائج
  1. 1
    Skin Biopsy Findings in Patients With CMT1A: Baseline Data From the CLN-PXT3003-01 Study Provide New Insights Into the Pathophysiology of the Disorder

    المؤلفون: Jean-Michel Vallat, Claire Demiot, Laurent Magy, Arnaud Lacour, Laurence Richard, Mathilde Duchesne, Tania Stojkovic, Daniel Cohen, Viviane Bertrand, Serguei Nabirotchkin, Pierre-Marie Gonnaud, Klaus-Armin Nave, Yann Péréon, Shahram Attarian, Aurore Danigo

    المصدر: Journal of Neuropathology & Experimental Neurology. 77:274-281

    مصطلحات موضوعية: Adult, Male, 0301 basic medicine, congenital, hereditary, and neonatal diseases and abnormalities, Pathology, medicine.medical_specialty, Langerhans cell, Visual Analog Scale, Biopsy, Neural Conduction, Nerve fiber, Disease, Severity of Illness Index, Pathology and Forensic Medicine, 03 medical and health sciences, Cellular and Molecular Neuroscience, Myelin, Nerve Fibers, 0302 clinical medicine, Charcot-Marie-Tooth Disease, medicine, Humans, Myelin Sheath, Skin, medicine.diagnostic_test, business.industry, General Medicine, Middle Aged, Pathophysiology, 030104 developmental biology, medicine.anatomical_structure, Neurology, Peripheral nervous system, Skin biopsy, Neuropathic pain, Female, Neurology (clinical), business, Myelin Proteins, 030217 neurology & neurosurgery

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a34bce535f19bbdda90931c4b2287d91Test
    https://doi.org/10.1093/jnen/nly001Test


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  2. 2
    Congenital hypomyelinating neuropathy due to the association of a truncating mutation in PMP22 with the classical HNPP deletion

    المؤلفون: Philippe Latour, Jean-Michel Vallat, Stéphane Mathis, Franck Sturtz, Elisabeth Ollagnon-Roman, Laurence Richard, Maxime Jouaud, Laurent Magy, Pierre-Marie Gonnaud

    المساهمون: Maintenance Myélinique et Neuropathies Périphériques (MMNP), Institut Génomique, Environnement, Immunité, Santé, Thérapeutique (GEIST), Université de Limoges (UNILIM)-Université de Limoges (UNILIM), Centre Hospitalier Lyon Sud [CHU - HCL] (CHLS), Hospices Civils de Lyon (HCL), Centre de référence national neuropathies périphériques rares [CHU Limoges], CHU Limoges, Service de Neurologie [CHU Limoges], Service de Biochimie et Génétique Moléculaire [CHU Limoges], Service de neurologie [Poitiers], Centre hospitalier universitaire de Poitiers (CHU Poitiers)

    المصدر: Neuromuscular Disorders
    Neuromuscular Disorders, Elsevier, 2016, 26 (4-5), pp.316-321. ⟨10.1016/j.nmd.2016.01.004⟩

    مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, [SDV]Life Sciences [q-bio], Biopsy, Neural Conduction, Sural nerve, Biology, Nerve biopsy, Young Adult, 03 medical and health sciences, Exon, 0302 clinical medicine, Sural Nerve, Charcot-Marie-Tooth Disease, Internal medicine, Peripheral myelin protein 22, medicine, Humans, Point Mutation, Congenital hypomyelinating neuropathy, RNA, Messenger, Allele, Genetics (clinical), Sequence Deletion, Genetics, medicine.diagnostic_test, CMT, Myelin protein zero, Point mutation, 030104 developmental biology, Endocrinology, PMP22, Neurology, Child, Preschool, Pediatrics, Perinatology and Child Health, Neurology (clinical), Myelin Proteins, 030217 neurology & neurosurgery

    الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c3b3d2fe18a089c97d79b82c9ae24461Test
    https://doi.org/10.1016/j.nmd.2016.01.004Test


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