Results 201 to 210 of about 11,713 (255)

Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor. [PDF]

Neurol Sci
Koç Yekedüz M, Yilmaz R, Abali T, Kibrit SN, Karacan AV, Unutmaz EY, Ayık G, Genç-Batmaz D, Dilek GR, Çelik B, Gemci E, Şahin T, Yalcin A, Ceylaner S, Akbostancı MC, Eminoğlu FT.   +15 more
europepmc   +1 more source

Characterization of Dried Blood Spot Quality Control Materials for Lysosomal Enzyme Activity Assays Using Digital Microfluidic Fluorometry to Detect Lysosomal Storage Disorders in Newborns. [PDF]

Int J Neonatal Screen
Dantonio P, Klug T, Yazdanpanah G, Haynes C, Zhou H, Hopkins P, Vogt R, Lee R, Cuthbert C, Petritis K.   +9 more
europepmc   +1 more source

Different and unusual presentation of Gaucher's disease with the same mutation in the glucocerebrosidase enzyme (F266L) in two patients: a case report. [PDF]

J Med Case Rep
Keikhaei B, Mafakher L.
europepmc   +1 more source

Acid β-glucosidase (GBA1) gene mutational spectrum and clinical phenotypes in patients with gaucher disease: seven novel mutations in a multicenter retrospective cohort study from upper Egypt. [PDF]

Mol Cell Pediatr
Youssef MAM, Elsayed SM, Elsayh KI, Taha SA, Abdelmotogaly HSM, Embaby MM.   +5 more
europepmc   +1 more source

ATP13A2-Mediated Spermine Export Modulates Lipid Catabolism in the Endolysosomal System of SH-SY5Y Cells. [PDF]

Int J Mol Sci
Marcos AL, Gironacci MM, de Tezanos Pinto F.   +2 more
europepmc   +1 more source

Rare of Gaucher's Disease Complication of Splenic Multiple Gaucheroma. [PDF]

Endocr Metab Immune Disord Drug Targets
Çukadar N, Veziroğlu İE, Kara CS, Karahan OI, Talih T, Bayram F.   +5 more
europepmc   +1 more source

Activation and Purification of ß‐Glucocerebrosidase by Exploiting its Transporter LIMP‐2 – Implications for Novel Treatment Strategies in Gaucher's and Parkinson's Disease

Dobert, Jan Philipp, Bub, Simon, Mächtel, Rebecca, Januliene, Dovile, Steger, Lisa, Regensburger, Martin, Wilfling, Sibylle, Chen, Jia‐Xuan, Dejung, Mario, Plötz, Sonja, Hehr, Ute, Moeller, Arne, Arnold, Philipp, Zunke, Friederike   +13 more
openalex   +1 more source

REM Sleep Behavior Disorder as a Prodromal Synucleinopathy: Updates on Clinical and Laboratory Biomarkers, and Implications for Neuroprotective Trials. [PDF]

Curr Neurol Neurosci Rep
Neilson LE, Khattab YI, Lim MM.
europepmc   +1 more source

Long-term oral glucocerebrosidase activator reduces soluble α-synuclein oligomer accumulation in Parkinsonian LRRK2 mutant mouse brain. [PDF]

NPJ Parkinsons Dis
Choi ZY, Liu H, Chang EE, Pang SY, Luo IL, Ruan Y, Wang Q, Malki Y, Zhang SX, Weng KY, Lau BW, Ng RC, Zhang Z, Ho SL, Ho PW.   +14 more
europepmc   +1 more source