Results 111 to 120 of about 2,188 (120)

Feline Niemann-Pick Disease With a Novel Mutation of SMPD1 Gene

Veterinary Pathology, 2020
Chambers Jk, Mun Keong Kok, Kazuyuki Uchida   +2 more
exaly  

SMPD1 mutations, activity, and α‐synuclein accumulation in Parkinson's disease

Movement Disorders, 2019
Lior Greenbaum, Nicolas Dupré, Omid Tavassoly   +2 more
exaly  

SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants

Human Mutation, 2016
Mirella Filocamo, Richard Sinnott, Stefania Zampieri   +2 more
exaly  

SMPD1 variants in Chinese Han patients with sporadic Parkinson's disease

Parkinsonism and Related Disorders, 2017
Pan Du, Yuming Xu, Hai-Yang Luo
exaly  

SMPD1 mutations and Parkinson disease

Parkinsonism and Related Disorders, 2015
Z Borochowitz, R Gershoni-Baruch
exaly  

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

Molecular Neurobiology, 2015
Xiong Deng, Zhi Song, Sheng Deng
exaly  

Four Novel p.N385K, p.V36A, c.1033–1034insT and c.1417–1418delCT Mutations in the Sphingomyelin Phosphodiesterase 1 (SMPD1) Gene in Patients with Types A and B Niemann-Pick Disease (NPD)

International Journal of Molecular Sciences, 2015
Behnam Kamalidehghan, Fatemeh Keshavarzi, Massoud Houshmand   +2 more
exaly  

Functionalin vitro characterization of 14SMPD1 mutations identified in Italian patients affected by Niemann Pick Type B disease

Human Mutation, 2005
Mirella Filocamo, Stefania Zampieri
exaly  

Spectrum of SMPD1 mutations in Asian‐Indian patients with acid sphingomyelinase (ASM)‐deficient Niemann–Pick disease

American Journal of Medical Genetics, Part A, 2016
Gandham Bhavani, Ashwin Dalal, Prajnya Ranganath   +2 more
exaly  

Computational Analysis of SMPD1 Mutants and Their Binding Affinity with Desipramine: A Therapeutic Insight into Niemann–Pick Disease Type A

ChemistrySelect
Magesh Ramasamy
exaly