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المؤلفون: Sien Hilde Van Daele, Matthieu Moisse, Joke J F A van Vugt, Ramona A J Zwamborn, Rick van der Spek, Wouter van Rheenen, Kristel Van Eijk, Kevin Kenna, Philippe Corcia, Patrick Vourc'h, Philippe Couratier, Orla Hardiman, Russell McLaughin, Marc Gotkine, Vivian Drory, Nicola Ticozzi, Vincenzo Silani, Antonia Ratti, Mamede de Carvalho, Jesús S Mora Pardina, Monica Povedano, Peter M Andersen, Markus Weber, Nazli A Başak, Chris Shaw, Pamela J Shaw, Karen E Morrison, John E Landers, Jonathan D Glass, Michael van Es, Leonard H van den Berg, Ammar Al-Chalabi, Jan Veldink, Philip Van Damme
المصدر: Brain.
مصطلحات موضوعية: Neurology (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::dee88f47445eb895a2da67334c94efa3Test
https://doi.org/10.1093/brain/awad120Test -
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المؤلفون: Sascha Vermeer, Matthieu Moisse, Liesbeth Keldermans, Kristl G. Claeys, Sien Hilde Van Daele, Hilde Van Esch, Philip Van Damme, Amélie Van Eesbeeck, Valerie Race
المصدر: European Journal of Neurology. 29:345-349
مصطلحات موضوعية: medicine.medical_specialty, medical genetics, Ataxia, Hereditary spastic paraplegia, Ubiquitin-Protein Ligases, sensory, genotype-phenotype correlation, case study, Sensory ataxia, medicine, Humans, Loss function, Exome sequencing, Retrospective Studies, Genetic testing, Genetics, medicine.diagnostic_test, Spastic Paraplegia, Hereditary, Genetic heterogeneity, business.industry, ataxia, spastic paraparesis, medicine.disease, Pedigree, Phenotype, Neurology, Mutation, Medical genetics, Neurology (clinical), medicine.symptom, business
وصف الملف: Print-Electronic
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cab58cec45cdadd91098bd79b2ce8cbTest
https://doi.org/10.1111/ene.15091Test -
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المؤلفون: Sien Hilde, Van Daele, Sascha, Vermeer, Amélie, Van Eesbeeck, Laura, Lannoo, Valérie, Race, Philip, van Damme, Kristl, Claeys, Wim, Vandenberghe
المصدر: Journal of neurology, neurosurgery, and psychiatry. 91(11)
مصطلحات موضوعية: Adult, Aged, 80 and over, Male, DNA Repeat Expansion, Cerebellar Ataxia, Bilateral Vestibulopathy, Electrodiagnosis, Neural Conduction, Action Potentials, Peripheral Nervous System Diseases, Syndrome, Middle Aged, Autonomic Nervous System Diseases, Cough, Humans, Female, Genetic Testing, Age of Onset, Replication Protein C, Aged
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::74f67df99bd1cb48550e35ce71341238Test
https://pubmed.ncbi.nlm.nih.gov/32732387Test -
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المؤلفون: Kristl G. Claeys, Laura Lannoo, Wim Vandenberghe, Philip Van Damme, Valerie Race, Amélie Van Eesbeeck, Sascha Vermeer, Sien Hilde Van Daele
المصدر: Journal of Neurology, Neurosurgery & Psychiatry. 91:1233-1234
مصطلحات موضوعية: Vestibular areflexia, Pediatrics, medicine.medical_specialty, Ataxia, Movement disorders, Cerebellar ataxia, business.industry, medicine.disease, Bilateral vestibulopathy, 03 medical and health sciences, Psychiatry and Mental health, 0302 clinical medicine, Cohort, medicine, Cerebellar Degeneration, Surgery, Neurology (clinical), medicine.symptom, business, Trinucleotide repeat expansion, 030217 neurology & neurosurgery
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::08945bf9781c05305041c7394c21f7faTest
https://doi.org/10.1136/jnnp-2020-323998Test