Bart van de Warrenburg Department of Neurology, Donders Institute for Brain, Cognition and Behaviour Radboud University Medical Center Biography Publications Institution JoVE Articles Bart van de Warrenburg has not added a biography. If you are Bart van de Warrenburg and would like to personalize this page please email our Author Liaison for assistance. Publications A Recessive Ataxia Diagnosis Algorithm for the Next-generation Sequencing Era Annals of Neurology. Oct, 2017 | Pubmed ID: 29059497 Clinical and Genetic Characteristics of Sporadic Adult-onset Degenerative Ataxia Neurology. Sep, 2017 | Pubmed ID: 28794257 Pathophysiology, Diagnostic Work-up and Management of Balance Impairments and Falls in Patients with Hereditary Spastic Paraplegia Journal of Rehabilitation Medicine. May, 2017 | Pubmed ID: 28471471 L-Dopa in Dystonia: A Modern Perspective Neurology. May, 2017 | Pubmed ID: 28389587 Ataxia-telangiectasia: Recommendations for Multidisciplinary Treatment Developmental Medicine and Child Neurology. Jul, 2017 | Pubmed ID: 28318010 Ataxia-telangiectasia: Immunodeficiency and Survival Clinical Immunology (Orlando, Fla.). May, 2017 | Pubmed ID: 28126470 A Homozygous FITM2 Mutation Causes a Deafness-dystonia Syndrome with Motor Regression and Signs of Ichthyosis and Sensory Neuropathy Disease Models & Mechanisms. Feb, 2017 | Pubmed ID: 28067622 The Clinical Heterogeneity of Drug-induced Myoclonus: an Illustrated Review Journal of Neurology. Aug, 2017 | Pubmed ID: 27981352 Clinical Exome Sequencing for Cerebellar Ataxia and Spastic Paraplegia Uncovers Novel Gene-disease Associations and Unanticipated Rare Disorders European Journal of Human Genetics : EJHG. Oct, 2016 | Pubmed ID: 27165006 The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the C.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene Pediatric Neurology. Jun, 2016 | Pubmed ID: 27091223 A LRSAM1 Mutation Links Charcot-Marie-Tooth Type 2 to Parkinson's Disease Annals of Clinical and Translational Neurology. Feb, 2016 | Pubmed ID: 26900582 Expanding the Phenotype in Aminoacylase 1 (ACY1) Deficiency: Characterization of the Molecular Defect in a 63-year-old Woman with Generalized Dystonia Metabolic Brain Disease. Jun, 2016 | Pubmed ID: 26686503 Peripheral Neuropathy in Spinocerebellar Ataxia Type 1, 2, 3, and 6 Cerebellum (London, England). Apr, 2016 | Pubmed ID: 26054379 A Positive 'Pointing Test' in a Parkinson's Disease Patient Journal of Parkinson's Disease. 2015 | Pubmed ID: 26444092 Long-term Disease Progression in Spinocerebellar Ataxia Types 1, 2, 3, and 6: a Longitudinal Cohort Study The Lancet. Neurology. Nov, 2015 | Pubmed ID: 26377379 First De Novo KCND3 Mutation Causes Severe Kv4.3 Channel Dysfunction Leading to Early Onset Cerebellar Ataxia, Intellectual Disability, Oral Apraxia and Epilepsy BMC Medical Genetics. Jul, 2015 | Pubmed ID: 26189493 Recessive Mutations in POLR1C Cause a Leukodystrophy by Impairing Biogenesis of RNA Polymerase III Nature Communications. Jul, 2015 | Pubmed ID: 26151409 The Preclinical Stage of Spinocerebellar Ataxias Neurology. Jul, 2015 | Pubmed ID: 26062625 Functional Analysis Helps to Define KCNC3 Mutational Spectrum in Dutch Ataxia Cases PloS One. 2015 | Pubmed ID: 25756792 De Novo Gain-of-function and Loss-of-function Mutations of SCN8A in Patients with Intellectual Disabilities and Epilepsy Journal of Medical Genetics. May, 2015 | Pubmed ID: 25725044 Dynamic Cortical Gray Matter Volume Changes After Botulinum Toxin in Cervical Dystonia Neurobiology of Disease. Jan, 2015 | Pubmed ID: 25447226 BDNF Polymorphism Associates with Decline in Set Shifting in Parkinson's Disease Neurobiology of Aging. Mar, 2015 | Pubmed ID: 25444596 A Single Session of Cerebellar Theta Burst Stimulation Does Not Alter Writing Performance in Writer's Cramp Brain : a Journal of Neurology. Jun, 2015 | Pubmed ID: 25395100 Serum Angiogenin Levels Are Elevated in ALS, but Not Parkinson's Disease Journal of Neurology, Neurosurgery, and Psychiatry. Dec, 2014 | Pubmed ID: 24876190 Gait Adaptability Training Improves Obstacle Avoidance and Dynamic Stability in Patients with Cerebellar Degeneration Gait & Posture. 2014 | Pubmed ID: 24786476 Exome Sequencing Extends the Phenotypic Spectrum for ABHD12 Mutations: from Syndromic to Nonsyndromic Retinal Degeneration Ophthalmology. Aug, 2014 | Pubmed ID: 24697911 A Novel KCNA1 Mutation Causing Episodic Ataxia Type I Muscle & Nerve. Aug, 2014 | Pubmed ID: 24639406 A Post-hoc Comparison of the Utility of Sanger Sequencing and Exome Sequencing for the Diagnosis of Heterogeneous Diseases Human Mutation. Dec, 2013 | Pubmed ID: 24123792 Angiogenin Varianti Nella Malattia Di Parkinson E Sclerosi Laterale Amiotrofica Annals of Neurology. Dec, 2011 | Pubmed ID: 22190368 High-throughput analisi del comportamento motorio nell'analisi di Isola della drosofila Ilse Eidhof*1, Michaela Fenckova*1, Dei M. Elurbe2, Bart van de Warrenburg3, Anna Castells Nobau*1, Annette Schenck*1 1Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 2Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 3Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center JoVE 55892 Neuroscience
High-throughput analisi del comportamento motorio nell'analisi di Isola della drosofila Ilse Eidhof*1, Michaela Fenckova*1, Dei M. Elurbe2, Bart van de Warrenburg3, Anna Castells Nobau*1, Annette Schenck*1 1Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 2Centre for Molecular and Biomolecular Informatics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 3Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center JoVE 55892 Neuroscience
