Results 91 to 100 of about 14,087 (142)

A proto-aldehyde fluorescence quenched substrate for quantitative imaging of both protein and enzyme activity within cells. [PDF]

Chem Sci
Zhu S, Deen MC, Cecioni S, Wong KL, Perley-Roberston E, Wu WB, Vocadlo DJ.   +6 more
europepmc   +1 more source

Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature. [PDF]

Neurogenetics
Cioffi E, Coppola G, Musumeci O, Gallone S, Silvestri G, Rossi S, Piemonte F, D'Amico J, Tessa A, Santorelli FM, Casali C.   +10 more
europepmc   +1 more source

Diet, β-glucocerebrosidase deficiency, and Parkinson's disease. [PDF]

J Lipid Res
Shayman JA.
europepmc   +1 more source

The C. elegans gba-3 gene encodes a glucocerebrosidase that exacerbates α-synuclein-mediated impairments in deletion mutants. [PDF]

Transl Neurodegener
Liu N, Li R, Huang X, Lakso M, Wong G.
europepmc   +1 more source

Sphingolipids in Gaucher disease: a systematic review. [PDF]

Orphanet J Rare Dis
Lake A, Fuller M.
europepmc   +1 more source

CKD in a Young Man with Nephrogenic Diabetes Insipidus. [PDF]

Kidney360
Teitelbaum I.
europepmc   +1 more source

Deciphering Spastic Ataxia: Clinical and Genetic Profiles. [PDF]

Neurol Genet
Damásio J, Santos M, Costa S, Moura J, Sardoeira A, Lemos C, Oliveira J, Barros J, Sequeiros J.   +8 more
europepmc   +1 more source