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- 2017
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Mark
Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS and neurological symptoms
(
- Contribution to journal › Article
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Mark
Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism
(
- Contribution to journal › Article
- 2015
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Mark
Improving the likelihood of neurology patients being examined using patient feedback
(
- Contribution to journal › Article
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Mark
Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C : an observational cohort study
(
- Contribution to journal › Article
- 2014
-
Mark
Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants
(
- Contribution to journal › Article
- 2013
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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
Large-scale replication and heterogeneity in Parkinson disease genetic loci
(
- Contribution to journal › Article
- 2011
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Mark
A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease
(
- Contribution to journal › Article
- 2010
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Mark
Non-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson's disease : large-scale collaborative study
(
- Contribution to journal › Article