Found: 11
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Charcot- Marie- Tooth hereditary neuropathy due to a mitochondrial ATP6 mutation.
- Published in:
- European Journal of Neurology, 2012, v. 19, n. 10, p. e114, doi. 10.1111/j.1468-1331.2012.03812.x
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- Publication type:
- Article
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-41
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- Publication type:
- Article
Autosomal recessive spastic ataxia of Charlevoix Saguenay (ARSACS): expanding the genetic, clinical and imaging spectrum.
- Published in:
- 2013
- By:
- Publication type:
- journal article
POLG and PEO1 (Twinkle) mutations are infrequent in PSP-like atypical parkinsonism: a preliminary screening study.
- Published in:
- 2012
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- Publication type:
- Letter
Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47).
- Published in:
- Neurogenetics, 2012, v. 13, n. 1, p. 73, doi. 10.1007/s10048-012-0314-0
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- Publication type:
- Article
Leukodystrophies in idiopathic adult-onset ataxia: Frequency and phenotype in 105 patients.
- Published in:
- Movement Disorders, 2013, v. 28, n. 14, p. 2033, doi. 10.1002/mds.25617
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- Publication type:
- Article
Retinal nerve fiber layer loss in multiple system atrophy.
- Published in:
- Movement Disorders, 2011, v. 26, n. 5, p. 914, doi. 10.1002/mds.23523
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- Publication type:
- Article
Atypical juvenile parkinsonism in a consanguineous SPG15 family.
- Published in:
- Movement Disorders, 2011, v. 26, n. 3, p. 565, doi. 10.1002/mds.23472
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- Publication type:
- Article
POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe.
- Published in:
- Movement Disorders, 2010, v. 25, n. 15, p. 2678, doi. 10.1002/mds.23286
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- Publication type:
- Article
POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe.
- Published in:
- 2010
- By:
- Publication type:
- journal article
Decreased retinal sensitivity and loss of retinal nerve fibers in multiple system atrophy.
- Published in:
- Graefe's Archive of Clinical & Experimental Ophthalmology, 2013, v. 251, n. 1, p. 235, doi. 10.1007/s00417-012-2118-1
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- Publication type:
- Article