Niemann-Pick C Disease Gene Mutations and Age-Related Neurodegenerative Disorders

The role of autophagy in neurodegenerative disease

(2013) Ralph A Nixon   NATURE MEDICINE

Niemann-Pick type C is frequent in adult ataxia with cognitive decline and vertical gaze palsy

(2013) J. Schicks et al.   NEUROLOGY

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

(2013) Z. Gan-Or et al.   NEUROLOGY

The frontotemporal lobar degeneration risk factor, TMEM106B, regulates lysosomal morphology and function

(2012) Owen A. Brady et al.   HUMAN MOLECULAR GENETICS

Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

(2012) Marc C. Patterson et al.   MOLECULAR GENETICS AND METABOLISM

Characterisation of two deletions involving NPC1 and flanking genes in Niemann–Pick Type C disease patients

(2012) Laura Rodríguez-Pascau et al.   MOLECULAR GENETICS AND METABOLISM

Lysosome-dependent pathways as a unifying theme in Parkinson's disease

(2012) George K. Tofaris   MOVEMENT DISORDERS

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma

(2011) Xuntian Jiang et al.   JOURNAL OF LIPID RESEARCH

Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage

(2011) Carolina Tängemo et al.   JOURNAL OF LIPID RESEARCH

Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond

(2011) Tamar Shachar et al.   MOVEMENT DISORDERS

Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy

(2011) Günter U Höglinger et al.   NATURE GENETICS

Transcriptional gene network inference from a massive dataset elucidates transcriptome organization and gene function

(2011) Vincenzo Belcastro et al.   NUCLEIC ACIDS RESEARCH

Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: A collaborative study on 70 patients

(2010) Marie T. Vanier et al.   CLINICAL GENETICS

Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations

(2010) Hazel Urwin et al.   HUMAN MOLECULAR GENETICS

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

Novel THAP1 sequence variants in primary dystonia

(2010) J. Xiao et al.   NEUROLOGY

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 Disease

(2010) F. D. Porter et al.   Science Translational Medicine

The lysosome and neurodegenerative diseases

(2009) L. Zhang et al.   ACTA BIOCHIMICA ET BIOPHYSICA SINICA

Cholesterol as a factor regulating intracellular localization of annexin A6 in Niemann–Pick type C human skin fibroblasts

(2009) Malgorzata E. Sztolsztener et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease

(2009) Juliane Neumann et al.   BRAIN

Antisense oligonucleotide treatment for a pseudoexon-generating mutation in theNPC1gene causing Niemann-Pick type C disease

(2009) Laura Rodríguez-Pascau et al.   HUMAN MUTATION

Diagnostic guidelines for high-resolution melting curve (HRM) analysis: An interlaboratory validation ofBRCA1mutation scanning using the 96-well LightScanner™

(2009) Nienke van der Stoep et al.   HUMAN MUTATION

Recommendations on the diagnosis and management of Niemann-Pick disease type C

(2009) James E. Wraith et al.   MOLECULAR GENETICS AND METABOLISM

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

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

Association between Parkinson's disease and glucocerebrosidase mutations in Brazil

(2007) Mariana Spitz et al.   PARKINSONISM & RELATED DISORDERS