Systematic Genetic Analysis of the SMPD1 Gene in Chinese Patients with Parkinson’s Disease

Alleged Detrimental Mutations in the SMPD1 Gene in Patients with Niemann-Pick Disease

(2015) Cosima Rhein et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The Sac1 Domain ofSYNJ1Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures

(2013) Catharine E. Krebs et al.   HUMAN MUTATION

Genetic analysis of the fused in sarcoma gene in Chinese Han patients with essential tremor

(2013) Wen Zheng et al.   NEUROBIOLOGY OF AGING

A rare lysosomal enzyme gene SMPD1 variant (p.R591C) associates with Parkinson's disease

(2013) Jia-Nee Foo et al.   NEUROBIOLOGY OF AGING

The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease

(2013) Z. Gan-Or et al.   NEUROLOGY

Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease

(2013) Huiwen Zhang et al.   Orphanet Journal of Rare Diseases

F-Box Only Protein 7 Gene in Parkinsonian-Pyramidal Disease

(2013) Hao Deng et al.   JAMA Neurology

Lysosomal dysfunction in Parkinson disease

(2012) Benjamin Dehay et al.   Autophagy

VPS35mutation in Chinese Han patients with late-onset Parkinson's disease

(2012) H. Deng et al.   EUROPEAN JOURNAL OF NEUROLOGY

A Deleterious Mutation in DNAJC6 Encoding the Neuronal-Specific Clathrin-Uncoating Co-Chaperone Auxilin, Is Associated with Juvenile Parkinsonism

(2012) Simon Edvardson et al.   PLoS One

Brain pathology in Niemann Pick disease type A: insights from the acid sphingomyelinase knockout mice

(2011) Maria Dolores Ledesma et al.   JOURNAL OF NEUROCHEMISTRY

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

(2009) E. Sidransky et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutations in the GIGYF2 (TNRC15) Gene at the PARK11 Locus in Familial Parkinson Disease

(2008) Corinne Lautier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Parkinson's disease: clinical features and diagnosis

(2008) J Jankovic   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY