Found: 28
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Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population.
- Published in:
- Human Genetics, 2005, v. 117, n. 1, p. 88, doi. 10.1007/s00439-005-1278-z
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- Article
Therapeutic Misestimation in Patients with Degenerative Ataxia: Lessons from a Randomized Controlled Trial.
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- Movement Disorders, 2023, v. 38, n. 1, p. 133, doi. 10.1002/mds.29252
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- Article
Nicotinamide Riboside Improves Ataxia Scores and Immunoglobulin Levels in Ataxia Telangiectasia.
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- Movement Disorders, 2021, v. 36, n. 12, p. 2951, doi. 10.1002/mds.28788
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- Article
A de novo SCA14 mutation in an isolated case of late-onset cerebellar ataxia.
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- Movement Disorders, 2013, v. 28, n. 13, p. 1902, doi. 10.1002/mds.25572
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- Article
Reduced parietal connectivity with a premotor writing area in writer's cramp.
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- Movement Disorders, 2012, v. 27, n. 11, p. 1425, doi. 10.1002/mds.25029
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- Article
Cerebellar Cognitive Affective Syndrome and Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay: A Report of Two Male Sibs.
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- Psychopathology, 2012, v. 45, n. 3, p. 193, doi. 10.1159/000331319
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- Article
Current and future medical treatment in primary dystonia.
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- Therapeutic Advances in Neurological Disorders, 2012, v. 5, n. 4, p. 221, doi. 10.1177/1756285612447261
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- Article
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.
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- Brain: A Journal of Neurology, 2014, v. 137, n. 9, p. 2444, doi. 10.1093/brain/awu174
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- Article
Hereditary spastic paraplegia caused by a mutation in the VCP gene.
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- Brain: A Journal of Neurology, 2012, v. 135, n. 12, p. e223, doi. 10.1093/brain/aws201
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- Article
Cognitive Complaints and Their Impact on Daily Life in Patients with Degenerative Cerebellar Disorders.
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- Cerebellum, 2024, v. 23, n. 3, p. 1042, doi. 10.1007/s12311-023-01607-4
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- Article
Paraneoplastic Cerebellar Ataxia due to Burnt-Out Testicular Germ Cell Tumour?
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- European Neurology, 2007, v. 57, n. 3, p. 178, doi. 10.1159/000098472
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- Article
Kleefstra syndrome in three adult patients: Further delineation of the behavioral and neurological phenotype shows aspects of a neurodegenerative course.
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- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2409, doi. 10.1002/ajmg.a.34186
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- Article
Writer's cramp: Increased dorsal premotor activity during intended writing.
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- Human Brain Mapping, 2013, v. 34, n. 3, p. 613, doi. 10.1002/hbm.21464
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- Article
Depression comorbidity in spinocerebellar ataxia.
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- Movement Disorders, 2011, v. 26, n. 5, p. 870, doi. 10.1002/mds.23698
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- Article
Nonmotor symptoms in Parkin gene-related parkinsonism.
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- Movement Disorders, 2010, v. 25, n. 9, p. 1279, doi. 10.1002/mds.22897
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- Article
Self-rated health status in spinocerebellar ataxia-Results from a European multicenter study.
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- Movement Disorders, 2010, v. 25, n. 5, p. 587, doi. 10.1002/mds.22740
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- Article
Paramedical treatment in primary dystonia: A systematic review.
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- Movement Disorders, 2009, v. 24, n. 15, p. 2187, doi. 10.1002/mds.22608
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- Article
Atypical dystonic shoulder movements following neuralgic amyotrophy.
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- Movement Disorders, 2009, v. 24, n. 2, p. 293, doi. 10.1002/mds.22398
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- Article
Alexander disease causing hereditary late-onset ataxia with only minimal white matter changes: A report of two sibs.
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- Movement Disorders, 2008, v. 23, n. 11, p. 1613, doi. 10.1002/mds.22053
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- Article
Antineuronal antibodies in Parkinson's disease.
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- Movement Disorders, 2008, v. 23, n. 7, p. 958, doi. 10.1002/mds.21929
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- Article
The phenomenon of disproportionate antecollis in Parkinson's disease and multiple system atrophy.
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- Movement Disorders, 2007, v. 22, n. 16, p. 2325, doi. 10.1002/mds.21634
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- Article
Persisting hyperekplexia after idiopathic, self-limiting brainstem encephalopathy.
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- 2007
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- Publication type:
- journal article
Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: Expanding the phenotype.
- Published in:
- Movement Disorders, 2006, v. 21, n. 7, p. 1025, doi. 10.1002/mds.20851
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- Publication type:
- Article
Reliability and validity of the International Cooperative Ataxia Rating Scale: A study in 156 spinocerebellar ataxia patients.
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- Movement Disorders, 2006, v. 21, n. 5, p. 699, doi. 10.1002/mds.20781
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- Article
Trunk sway in patients with spinocerebellar ataxia.
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- Movement Disorders, 2005, v. 20, n. 8, p. 1006, doi. 10.1002/mds.20486
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- Article
Falls in degenerative cerebellar ataxias.
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- 2005
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- Publication type:
- journal article
A novel KCNA1 mutation causing episodic ataxia type I.
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- Muscle & Nerve, 2014, v. 50, n. 2, p. 289, doi. 10.1002/mus.24242
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- Article
Concomitant dermatomyositis and myasthenia gravis presenting with respiratory insufficiency.
- Published in:
- 2002
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- Publication type:
- journal article