Found: 34
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A PDE10A de novo mutation causes childhood-onset chorea with diurnal fluctuations.
- Published in:
- 2017
- By:
- Publication type:
- case study
Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study.
- Published in:
- 2019
- By:
- Publication type:
- journal article
A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea.
- Published in:
- 2018
- By:
- Publication type:
- journal article
SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy.
- Published in:
- 2016
- By:
- Publication type:
- case study
Low anaerobic threshold and increased skeletal muscle lactate production in subjects with Huntington's disease.
- Published in:
- Movement Disorders, 2011, v. 26, n. 1, p. 130, doi. 10.1002/mds.23258
- By:
- Publication type:
- Article
Genetic Dystonias: Update on Classification and New Genetic Discoveries.
- Published in:
- Current Neurology & Neuroscience Reports, 2021, v. 21, n. 3, p. 1, doi. 10.1007/s11910-021-01095-1
- By:
- Publication type:
- Article
Emerging Monogenic Complex Hyperkinetic Disorders.
- Published in:
- Current Neurology & Neuroscience Reports, 2017, v. 17, n. 12, p. 1, doi. 10.1007/s11910-017-0806-2
- By:
- Publication type:
- Article
Parkinson's disease variant detection and disclosure: PD GENEration, a North American study.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. 2668, doi. 10.1093/brain/awae142
- By:
- Publication type:
- Article
Variants in ATP5F1B are associated with dominantly inherited dystonia.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2730, doi. 10.1093/brain/awad068
- By:
- Publication type:
- Article
Dystonia genes functionally converge in specific neurons and share neurobiology with psychiatric disorders.
- Published in:
- 2020
- By:
- Publication type:
- journal article
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
- Published in:
- Annals of Neurology, 2021, v. 89, n. 4, p. 828, doi. 10.1002/ana.26019
- By:
- Publication type:
- Article
Recessive mutations in VPS13D cause childhood onset movement disorders.
- Published in:
- 2018
- By:
- Publication type:
- journal article
A Novel SGCE Nonsense Variant Associated With Marked Intrafamilial Variability in a Turkish Family With Myoclonus‐Dystonia.
- Published in:
- Movement Disorders Clinical Practice, 2019, v. 6, n. 6, p. 479, doi. 10.1002/mdc3.12805
- By:
- Publication type:
- Article
Neurodegeneration With Brain Iron Accumulation ( NBIA) Syndromes Presenting With Late-Onset Craniocervical Dystonia: An Illustrative Case Series.
- Published in:
- Movement Disorders Clinical Practice, 2017, v. 4, n. 2, p. 254, doi. 10.1002/mdc3.12393
- By:
- Publication type:
- Article
The Endless Expansion of the Phenotypic Spectrum of ATP1A3 Mutations: A True Diagnostic Challenge.
- Published in:
- 2016
- By:
- Publication type:
- Editorial
Emerging and converging molecular mechanisms in dystonia.
- Published in:
- Journal of Neural Transmission, 2021, v. 128, n. 4, p. 483, doi. 10.1007/s00702-020-02290-z
- By:
- Publication type:
- Article
Expanding the spectrum of KCNJ6‐related disorders: Milder phenotype with pathological startle responses.
- Published in:
- Clinical Genetics, 2023, v. 103, n. 1, p. 103, doi. 10.1111/cge.14226
- By:
- Publication type:
- Article
Oligoclonal bands in the cerebrospinal fluid of amyotrophic lateral sclerosis patients with disease-associated mutations.
- Published in:
- Journal of Neurology, 2013, v. 260, n. 1, p. 85, doi. 10.1007/s00415-012-6589-0
- By:
- Publication type:
- Article
Community‐based genetic study of Parkinson's disease in Estonia.
- Published in:
- Acta Neurologica Scandinavica, 2021, v. 143, n. 1, p. 89, doi. 10.1111/ane.13329
- By:
- Publication type:
- Article
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.
- Published in:
- 2014
- By:
- Publication type:
- journal article
Parkinson’s disease in GTP cyclohydrolase 1 mutation carriers.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 9, p. 2480, doi. 10.1093/brain/awu179
- By:
- Publication type:
- Article
De novo FRMD5 Missense Variants in Patients with Childhood‐Onset Ataxia, Prominent Nystagmus, and Seizures.
- Published in:
- Movement Disorders, 2024, v. 39, n. 7, p. 1231, doi. 10.1002/mds.29791
- By:
- Publication type:
- Article
A GNAI1 Pathogenic Variant in a Case with GNAO1‐Isolated Dystonia: A Modifier of Disease Severity?
- Published in:
- Movement Disorders, 2024, v. 39, n. 5, p. 918, doi. 10.1002/mds.29765
- By:
- Publication type:
- Article
Childhood-Onset Lower Limb Focal Dystonia Due to a NAA15 Variant: A Case Report.
- Published in:
- Movement Disorders, 2024, v. 39, n. 4, p. 747, doi. 10.1002/mds.29732
- By:
- Publication type:
- Article
International Genetic Testing and Counseling Practices for Parkinson's Disease.
- Published in:
- Movement Disorders, 2023, v. 38, n. 8, p. 1527, doi. 10.1002/mds.29442
- By:
- Publication type:
- Article
Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2‐1‐Related Disorder.
- Published in:
- Movement Disorders, 2023, v. 38, n. 2, p. 347, doi. 10.1002/mds.29280
- By:
- Publication type:
- Article
Digging into the Unknowns of the Human Genome Sequence: The T2T‐CHM13 Reference Assembly Release.
- Published in:
- Movement Disorders, 2022, v. 37, n. 11, p. 2192, doi. 10.1002/mds.29235
- By:
- Publication type:
- Article
Childhood‐Onset Chorea Caused by a Recurrent De Novo DRD2 Variant.
- Published in:
- Movement Disorders, 2021, v. 36, n. 6, p. 1472, doi. 10.1002/mds.28634
- By:
- Publication type:
- Article
YY1‐Related Dystonia: Clinical Aspects and Long‐Term Response to Deep Brain Stimulation.
- Published in:
- Movement Disorders, 2021, v. 36, n. 6, p. 1461, doi. 10.1002/mds.28547
- By:
- Publication type:
- Article
Childhood-Onset Chorea Caused by a Recurrent De Novo DRD2 Variant.
- Published in:
- 2021
- By:
- Publication type:
- letter
YY1-Related Dystonia: Clinical Aspects and Long-Term Response to Deep Brain Stimulation.
- Published in:
- 2021
- By:
- Publication type:
- case study
Partial loss‐of‐function of sodium channel SCN8A in familial isolated myoclonus.
- Published in:
- Human Mutation, 2018, v. 39, n. 7, p. 965, doi. 10.1002/humu.23547
- By:
- Publication type:
- Article
Metalloproteinase alterations in the bone marrow of ALS patients.
- Published in:
- Journal of Molecular Medicine, 2010, v. 88, n. 6, p. 553, doi. 10.1007/s00109-009-0584-7
- By:
- Publication type:
- Article