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المؤلفون: Georges Mer, Kaori Hojo, Shana L. Merrill, Jessica Deleon, Peter Van den Bergh, Maria Victoria Botuyan, Noah Beadell, Inès Mademan, Christopher J. Klein, Gregory A. Worrell, Yanhong Wu, Henry Houlden, Nicole McGrath, Jan Senderek, Gordon Smith, Jonathan Baets, Xiaohui Duan, Mary M. Reilly, Julie Khoury, Murray Grossman, Joachim Weis, Matilde Laura, William W. Seeley, Steven S. Scherer, Peter De Jonghe, Yo Tsen Liu, Peter J. Dyck
المصدر: Brain
مصطلحات موضوعية: Adult, DNA (Cytosine-5-)-Methyltransferase 1, Male, Bioinformatics, medicine.disease_cause, environment and public health, Protein Structure, Secondary, 03 medical and health sciences, 0302 clinical medicine, Autosomal dominant cerebellar ataxia, Hereditary sensory and autonomic neuropathy, medicine, Autophagy, Humans, DNA (Cytosine-5-)-Methyltransferases, Cognitive decline, Hereditary Sensory and Autonomic Neuropathies, Cognitive deficit, Cellular localization, 030304 developmental biology, Aged, Genetics, 0303 health sciences, Mutation, Cerebellar ataxia, urogenital system, Original Articles, Middle Aged, medicine.disease, 3. Good health, Pedigree, HEK293 Cells, embryonic structures, Female, Neurology (clinical), Human medicine, medicine.symptom, Nervous System Diseases, Psychology, 030217 neurology & neurosurgery, Narcolepsy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::98f4def148fad12e85799ea261ea18ddTest
https://pubmed.ncbi.nlm.nih.gov/25678562Test -
2Diagnostic hallmarks and pitfalls in late-onset progressive transthyretin-related amyloid-neuropathy
المؤلفون: Maike F. Dohrn, Matthias Vorgerd, Joachim Weis, Jan De Bleecker, Peter Van den Bergh, Kristl G. Claeys, Jörg B. Schulz, Jean-Jacques Martin, Katrin Hinderhofer, Andreas Ferbert, Christoph Röcken, J. Michael Schröder
المساهمون: UCL - SSS/IONS/NEUR - Clinical Neuroscience, UCL - (SLuc) Service de neurologie
المصدر: Journal of Neurology : official journal of the European Neurological Society, Vol. 260, no.12, p. 3093-3108 (2013)
Journal of neurologyمصطلحات موضوعية: Tafamidis, Male, Pathology, medicine.medical_specialty, endocrine system, Late onset, chemistry.chemical_compound, Medicine, Humans, Ataxic Gait, Age of Onset, Aged, Aged, 80 and over, Amyloid Neuropathies, Familial, biology, business.industry, Autosomal dominant trait, nutritional and metabolic diseases, medicine.disease, Pedigree, Amyloid Neuropathy, Transthyretin, Neurology, chemistry, biology.protein, Disease Progression, Female, Neurology (clinical), Human medicine, Age of onset, business, Polyneuropathy
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfd25c49dcccba3278d8c90be0daa5f6Test
https://pubmed.ncbi.nlm.nih.gov/24101130Test