检索结果 - Bart P.C. van de Warrenburg
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Clinical exome sequencing for cerebellar ataxia and spastic paraplegia uncovers novel gene–disease associations and unanticipated rare disorders 由 Bart P.C. van de Warrenburg, Meyke Schouten, Susanne T. de Bot, Sascha Vermeer, Rowdy Meijer, Maartje Pennings, Christian Gilissen, Michèl AAP Willemsen, Hans Scheffer, Erik‐Jan Kamsteeg
出版 2016Artigo -
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Digital Gait Biomarkers Allow to Capture 1‐Year Longitudinal Change in Spinocerebellar Ataxia Type 3 由 Winfried Ilg, Björn Müller, Jennifer Faber, Judith van Gaalen, Holger Hengel, Ina R. Vogt, Guido Hennes, Bart P.C. van de Warrenburg, Thomas Klockgether, Lüdger Schöls, Matthis Synofzik
出版 2022Artigo -
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Promotion of physical activity and fitness in sedentary patients with Parkinson's disease: randomised controlled trial 由 Marlies van Nimwegen, A.D. Speelman, Sebastiaan Overeem, Bart P.C. van de Warrenburg, Katrijn Smulders, Manon L. Dontje, George F. Borm, Frank Backx, B.R. Bloem, M. Munneke
出版 2013Artigo -
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StartReact Restores Reaction Time in HSP: Evidence for Subcortical Release of a Motor Program 由 Jorik Nonnekes, Lars B. Oude Nijhuis, Mark de Niet, Susanne T. de Bot, Jacobus W. Pasman, Bart P.C. van de Warrenburg, Bastiaan R. Bloem, Vivian Weerdesteyn, Alexander C. H. Geurts
出版 2013Artigo -
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First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy 由 Katrien Smets, Anna Duarri, Tine Deconinck, Berten Ceulemans, Bart P.C. van de Warrenburg, Stephan Züchner, Michael Gonzalez, Rebecca Schüle, Matthis Synofzik, Nathalie Van der Aa, Peter De Jonghe, Dineke S. Verbeek, Jonathan Baets
出版 2015Artigo -
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Medicine
Biology
Disease
Genetics
Psychology
Ataxia
Internal medicine
Gene
Neuroscience
Spinocerebellar ataxia
Pathology
Psychiatry
Phenotype
Pediatrics
Physical medicine and rehabilitation
Mutation
Cerebellar ataxia
Cohort
Hereditary spastic paraplegia
Cerebellum
Exome sequencing
Neurology
Parkinson's disease
Machado–Joseph disease
Physical therapy
Cerebral palsy
Exome
Missense mutation
Movement disorders
Spastic