Found: 27
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C9orf72 repeat expansions as genetic modifiers for depression in spinocerebellar ataxias.
- Published in:
- 2018
- By:
- Publication type:
- letter
Two different genetic diseases in the same patient: Coincident, concomitant, or causally related?
- Published in:
- 2016
- By:
- Publication type:
- case study
Coenzyme Q10 and spinocerebellar ataxias.
- Published in:
- Movement Disorders, 2015, v. 30, n. 2, p. 214, doi. 10.1002/mds.26088
- By:
- Publication type:
- Article
Staufen Impairs Autophagy in Neurodegeneration.
- Published in:
- Annals of Neurology, 2023, v. 93, n. 2, p. 398, doi. 10.1002/ana.26515
- By:
- Publication type:
- Article
Staufen1 in Human Neurodegeneration.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Deep cerebellar stimulation reduces ataxic motor symptoms in the shaker rat.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Fatigue Impacts Quality of Life in People with Spinocerebellar Ataxias.
- Published in:
- Movement Disorders Clinical Practice, 2024, v. 11, n. 5, p. 496, doi. 10.1002/mdc3.14006
- By:
- Publication type:
- Article
Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes.
- Published in:
- Nature Genetics, 2006, v. 38, n. 4, p. 447, doi. 10.1038/ng1758
- By:
- Publication type:
- Article
Ataxin-2 Regulates RGS8 Translation in a New BAC-SCA2 Transgenic Mouse Model.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 4, p. 1, doi. 10.1371/journal.pgen.1005182
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- Publication type:
- Article
Childhood-Onset Spinocerebellar Ataxia 3: Tongue Dystonia as an Early Manifestation.
- Published in:
- Tremor & Other Hyperkinetic Movements, 2019, p. 1, doi. 10.7916/tohm.v0.704
- By:
- Publication type:
- Article
Diagnosis of Spinocerebellar Ataxia in the West Indies.
- Published in:
- 2018
- By:
- Publication type:
- Case Study
Staufen1 links RNA stress granules and autophagy in a model of neurodegeneration.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-018-06041-3
- By:
- Publication type:
- Article
Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community.
- Published in:
- American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 2020, v. 184, n. 4, p. 1030, doi. 10.1002/ajmg.c.31871
- By:
- Publication type:
- Article
SARA captures disparate progression and responsiveness in spinocerebellar ataxias.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 7, p. 3743, doi. 10.1007/s00415-024-12475-1
- By:
- Publication type:
- Article
Frequency of KCNC3 DNA Variants as Causes of Spinocerebellar Ataxia 13 (SCA13).
- Published in:
- PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0017811
- By:
- Publication type:
- Article
Genetic Variance in the Spinocerebellar Ataxia Type 2 (ATXN2) Gene in Children with Severe Early Onset Obesity.
- Published in:
- PLoS ONE, 2009, v. 4, n. 12, p. 1, doi. 10.1371/journal.pone.0008280
- By:
- Publication type:
- Article
Tremor in the Degenerative Cerebellum: Towards the Understanding of Brain Circuitry for Tremor.
- Published in:
- Cerebellum, 2019, v. 18, n. 3, p. 519, doi. 10.1007/s12311-019-01016-6
- By:
- Publication type:
- Article
Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-177
- By:
- Publication type:
- Article
Clinical characteristics of patients with spinocerebellar ataxias 1, 2, 3 and 6 in the US; a prospective observational study.
- Published in:
- 2013
- By:
- Publication type:
- journal article
KCNC3: phenotype, mutations, channel biophysics-a study of 260 familial ataxia patients.
- Published in:
- Human Mutation, 2010, v. 31, n. 2, p. 191, doi. 10.1002/humu.21165
- By:
- Publication type:
- Article
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 9, p. 2444, doi. 10.1093/brain/awu174
- By:
- Publication type:
- Article
Slc9a6 mutation causes Purkinje cell loss and ataxia in the shaker rat.
- Published in:
- Human Molecular Genetics, 2023, v. 32, n. 10, p. 1647, doi. 10.1093/hmg/ddad004
- By:
- Publication type:
- Article
ALS-associated genes in SCA2 mouse spinal cord transcriptomes.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 10, p. 1658, doi. 10.1093/hmg/ddaa072
- By:
- Publication type:
- Article
Gene co-expression network analysis for identifying modules and functionally enriched pathways in SCA2.
- Published in:
- Human Molecular Genetics, 2017, v. 26, n. 16, p. 3069, doi. 10.1093/hmg/ddx191
- By:
- Publication type:
- Article
The RNA‐binding protein and stress granule component ATAXIN‐2 is expressed in mouse and human tissues associated with glaucoma pathogenesis.
- Published in:
- Journal of Comparative Neurology, 2022, v. 530, n. 2, p. 537, doi. 10.1002/cne.25228
- By:
- Publication type:
- Article
Rippling muscle disease: evidence for phenotypic and genetic heterogeneity.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Amyotrophic Lateral Sclerosis Risk for Spinocerebellar Ataxia Type 2 ATXN2 CAG Repeat Alleles A Meta-analysis.
- Published in:
- JAMA Neurology, 2014, v. 71, n. 12, p. 1529, doi. 10.1001/jamaneurol.2014.2082
- By:
- Publication type:
- Article