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- 2014
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Mark
Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis.
(
- Contribution to journal › Article
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Mark
Autosomal dominant cerebellar ataxia with slow ocular saccades, neuropathy and orthostatism: A novel entity?
(
- Contribution to journal › Article
- 2013
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Mark
Role of Gα(olf) in Familial and Sporadic Adult-Onset Primary Dystonia.
(
- Contribution to journal › Article
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Mark
Corticobasal and ataxia syndromes widen the spectrum of C9ORF72 hexanucleotide expansion disease
(
- Contribution to journal › Article
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Mark
Monogenic Parkinson's disease and parkinsonism: Clinical phenotypes and frequencies of known mutations.
(
- Contribution to journal › Scientific review
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Mark
Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders
(
- Contribution to journal › Article
- 2012
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Mark
Genotype–phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases
(
- Contribution to journal › Article
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Mark
Friedreich's ataxia in patients with FXN p.R165P point mutation
2012) 16th Congress of the European-Federation-of-Neurological-Societies (EFNS) In European Journal of Neurology 19(Suppl 1). p.727-727(
- Contribution to journal › Published meeting abstract
- 2011
-
Mark
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study
(
- Contribution to journal › Article
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Mark
VPS35 Mutations in Parkinson Disease
(
- Contribution to journal › Article