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- 2012
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Mark
Novel PRRT2 mutation in an African-American family with paroxysmal kinesigenic dyskinesia
(
- Contribution to journal › Article
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Mark
Creation of an Open-Access, Mutation-Defined Fibroblast Resource for Neurological Disease Research
(
- Contribution to journal › Article
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Mark
Friedreich ataxia in patients with FXN p.R165P point mutation.
(
- Contribution to journal › Published meeting abstract
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Mark
First neuropathological description of a patient with Parkinson's disease and LRRK2 p.N1437H mutation.
(
- Contribution to journal › Article
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Mark
Genotype–phenotype correlations in THAP1 dystonia: Molecular foundations and description of new cases
(
- Contribution to journal › Article