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المؤلفون: Odile Boespflug-Tanguy, Laure Peter, Xavier Ayrignac, Francoise Bouhour, Jérôme De Seze, Pierre Labauge, François Mauguière, Cyril Goizet, Diana Rodriguez, Pierre Blanc, Christian Denier, Sandra Vukusic, Anne Fogli, Frédéric Blanc, Michael Obadia, Laetitia Horzinski, Christian Confavreux
المصدر: Brain. 132:2161-2169
مصطلحات موضوعية: Adult, Male, Pediatrics, medicine.medical_specialty, Ataxia, Adolescent, Primary Ovarian Insufficiency, Corpus callosum, Asymptomatic, White matter, Young Adult, medicine, Craniocerebral Trauma, Humans, Age of Onset, Young adult, Retrospective Studies, Cerebral atrophy, business.industry, Brain, Middle Aged, Prognosis, medicine.disease, Magnetic Resonance Imaging, Hyperintensity, Surgery, Eukaryotic Initiation Factor-2B, Hereditary Central Nervous System Demyelinating Diseases, medicine.anatomical_structure, Mutation, Disease Progression, Female, Neurology (clinical), medicine.symptom, Age of onset, Cognition Disorders, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::72728df95257a1ef431e4e6b3ffdbe5dTest
https://doi.org/10.1093/brain/awp171Test -
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المؤلفون: Brandon F. Meaney, Raphael Schiffmann, Christine R. Kaneski, Odile Boespflug-Tanguy, Anne Fogli, Diana Rodriguez, Pierre Labauge, Francoise Bouhour, Eleonore Eymard-Pierre, Susan Zeesman
المصدر: The American Journal of Human Genetics. (6):1544-1550
مصطلحات موضوعية: medicine.medical_specialty, Ataxia, Eukaryotic Initiation Factor-2, Molecular Sequence Data, Primary Ovarian Insufficiency, Biology, Bioinformatics, medicine.disease_cause, Severity of Illness Index, Pathogenesis, Leukoencephalopathy with vanishing white matter, Report, Internal medicine, Genetics, medicine, Humans, Initiation factor, Genetics(clinical), Age of Onset, Myelin Sheath, Genetics (clinical), Mutation, Leukodystrophy, medicine.disease, Radiography, Endocrinology, eIF2B, biology.protein, Female, Age of onset, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4630d09953bd7a08cc062a991e723361Test