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neurogenetics, ISSN 1364-6745, 5/2018, Volume 19, Issue 2, pp. 105 - 110
To determine the diagnostic yield of different genetic test modalities in adult patients with neurological disorders, we evaluated all adult patients seen for... 
Human Genetics | Neurology | Neurosciences | Diagnostic yield | Biomedicine | Next-generation sequencing | Whole exome sequencing | Molecular Medicine | COST-EFFECTIVENESS | GENETICS & HEREDITY | EXPERIENCE | CLINICAL NEUROLOGY | Cytogenetics | Nervous system diseases | Diagnosis | Genetic screening | Neurological diseases | Phenotypes | Hybridization | Neurological disorders
Journal Article
Journal of Huntington's Disease, ISSN 1879-6397, 01/2019, Volume 8, Issue 1, p. 79
Background: Advances in molecular therapeutic approaches in the last decade are translating into the design of non-traditional clinical trials. In order to... 
Clinical trials | Mutation | Huntington's disease | Patients | Recruitment
Journal Article
Journal of Huntington's Disease, ISSN 1879-6397, 2019, Volume 8, Issue 1, pp. 79 - 85
Journal Article
Journal of Huntington's disease, 2019, Volume 8, Issue 1, p. 79
Advances in molecular therapeutic approaches in the last decade are translating into the design of non-traditional clinical trials. In order to improve their... 
Journal Article
ISSN 2160-8288, 2018
Background: Hereditary myoclonus dystonia is often due to changes in the SGCE gene. Dystonia (DYT)-SGCE has a variable phenotype that can involve focal or... 
Neurology | Myoclonus | Dystonia | People with mental disabilities
Journal Article
Neurology, ISSN 0028-3878, 11/2016, Volume 87, Issue 19, pp. e227 - e230
A 30-year-old man who recently immigrated from Liberia was admitted to the neurology service for diffuse weakness. He reported 7 years of painless progressive... 
MYOPATHY | GENE | DYSFERLIN | CLINICAL NEUROLOGY | Resident and Fellow Section | 185
Journal Article
PLoS genetics, ISSN 1553-7390, 2011, Volume 7, Issue 7, p. e1002114
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 2013, Volume 156, Issue 6, pp. 1159 - 1168.e4
Journal Article
Tremor and other hyperkinetic movements (New York, N.Y.), ISSN 2160-8288, 2018, Volume 8, pp. 547 - 4
Journal Article
Journal Article
Journal of Huntington's disease, 07/2019
Clinical care for Huntington's disease (HD) is often provided in experienced centers that provide multidisciplinary care. However, the value of these centers... 
Journal Article
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