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Journal of Neuromuscular Diseases, ISSN 2214-3599, 01/2019, Volume 6, Issue 3, p. 385
Journal Article
American Journal of Ophthalmology, ISSN 0002-9394, 2013, Volume 156, Issue 6, pp. 1159 - 1168.e4
Journal Article
PLoS genetics, ISSN 1553-7390, 2011, Volume 7, Issue 7, pp. e1002114 - e1002114
Journal Article
Tremor and other hyperkinetic movements (New York, N.Y.), ISSN 2160-8288, 2018, Volume 8, pp. 547 - 547
Hereditary myoclonus dystonia is often due to changes in the gene. Dystonia (DYT)- has a variable phenotype that can involve focal or generalized myoclonus and... 
SGCE | DYT11 | sarcoglycan | intellectual disability | myoclonus dystonia | Index Medicus | Neurology | Intellectual disability | Myoclonus dystonia | Sarcoglycan | Dystonia
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 the Peripheral Nervous System, ISSN 1085-9489, 06/2019, Volume 24, Issue 2, pp. 213 - 218
We report on two patients, with different POLG mutations, in whom axonal neuropathy dominated the clinical picture. One patient presented with late onset... 
neuropathy | mitochondria | uniparental disomy | HOMOZYGOUS W748S MUTATION | RECESSIVE ATAXIA | DISOMY | SPECTRUM | NEUROSCIENCES | UNIPARENTAL ISODISOMY | CLINICAL NEUROLOGY | Medical colleges | Genetic aspects | Diagnosis | Charcot-Marie-Tooth disease | Phenotypes | Uniparental disomy | Neuropathy | Mutation | Chromosome 15
Journal Article
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 Clinical Immunology, ISSN 0271-9142, 8/2018, Volume 38, Issue 6, pp. 642 - 645
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s10875-018-0538-3 
Medical Microbiology | hypomorphic mutations | Biomedicine | Immunology | WES | myopathy | Infectious Diseases | Internal Medicine | RAG | SCID | COMMON VARIABLE IMMUNODEFICIENCY | IMMUNOLOGY | Allergy | Medical colleges | Genetic aspects | Allergic reaction | Immunodeficiency | RAG2 protein | Myopathy | Index Medicus
Journal Article
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, 01/2019
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