Results 141 to 150 of about 4,639 (191)

Clinical and genetic landscape of neuronopathic gaucher disease in Ukraine: hepatosplenomegaly and diagnostic delay. [PDF]

Orphanet J Rare Dis
Samonenko N, Olkhovych N, Okhotnikova O, Gorovenko N.   +3 more
europepmc   +1 more source

LRRK2 and GBA1 in Lewy body diseases: neuropathological subtypes at opposite ends of a spectrum? [PDF]

Mol Neurodegener
Jha V, Kalia LV.
europepmc   +1 more source

Patient-specific midbrain organoids with CRISPR correction recapitulate neuronopathic Gaucher disease phenotypes and enable evaluation of novel therapies. [PDF]

Elife
Lin Y, Liou B, Fannin V, Adler S, Mayhew CN, Hammonds JE, Hu YC, Tchieu J, Zhang W, Zhao X, Beres RL, Setchell KDR, Kaynak A, Qi X, Feldman RA, Sun Y.   +15 more
europepmc   +1 more source

Study of blood linear RNA nominates CD55 and DLD as early-stage biomarkers for Parkinson's disease. [PDF]

Brain
Beric A, Sahin S, Sanchez S, Yang Z, Kumar R, Alfradique-Dunham I, Sanford J, Western D, Phillips B, Budde JP, Perrin RJ, Kotzbauer PT, Perlmutter JS, Norris SA, Cruchaga C, Ibanez L.   +15 more
europepmc   +1 more source

Clinical Trials in GBA1-Associated Parkinson's Disease: A Need for Molecular Classification. [PDF]

Mov Disord
Gan-Or Z.
europepmc   +1 more source

Age-Specific Parkinson Disease Risk in Gaucher Disease Type 1: Data From the ICGG Gaucher Registry. [PDF]

Neurology
Alcalay RN, Mistry P, Di Fonzo A, Batista JL, Bianculli P, Carwile JL, Perichon MG, Balwani M.   +7 more
europepmc   +1 more source

Atorvastatin Shows Limited Disease-Modifying Effects in an A53T α-Synuclein Mouse Model of Parkinson's Disease. [PDF]

Neurotox Res
Wei L, Hua J, Tang S, Lei J, Li G, Wei L, Mo M.   +6 more
europepmc   +1 more source

Genotype-phenotype correlations and mutation spectrum of GBA1 in Gaucher disease across Asian populations: a systematic review. [PDF]

Hum Genomics
Konarbayeva A, Atavliyeva S, Auganova D, Baduanova S, Tarlykov P.   +4 more
europepmc   +1 more source

Diffusion Magnetic Resonance Imaging of Cortical Microstructure Differs in Nonmanifest and Manifest Genetic Parkinson's Disease. [PDF]

Mov Disord
Torso M, Tzaferou D, Valotti M, Hardwidge J, Hardingham I, Koychev I, Guo Q, Comley R, Chance SA, Ridgway GR.   +9 more
europepmc   +1 more source

A human lysosomal storage disorder toolkit for decoding proteome landscapes in cortical-like and dopaminergic-like induced neurons. [PDF]

Proc Natl Acad Sci U S A
Kraus F, He Y, Jiang Y, Li D, Ambaw YA, Gasparoli FM, Paulo JA, Walther TC, Farese RV, Gygi SP, Wilfling F, Harper JW.   +11 more
europepmc   +1 more source