Results 121 to 130 of about 3,074 (177)

Unveiling an Uncommon Glucosylceramidase (GBA) Mutation: Gaucher Disease Due to p.Ser276Phe Substitution. [PDF]

Cureus
Kumar N, Dange P, Samadder A, Kalita S, Kaushik JS.   +4 more
europepmc   +1 more source

Inhibition or genetic reduction of ASAH1/acid ceramidase restore α-synuclein clearance in mutant GBA1 dopamine neurons from Parkinson's patients. [PDF]

Hum Mol Genet
Kumar M, Feldman RA.
europepmc   +1 more source

A Randomized, Double-Blinded, Placebo-Controlled QTc Study to Evaluate BIA 28-6156 Effect on Cardiac Repolarization in Healthy Volunteers. [PDF]

Clin Pharmacol Drug Dev
Peixoto I, Hilt D, Carvalho T, Reis J, Gama H, Holenz J.   +5 more
europepmc   +1 more source

GBA1 Variants with Unknown Classification Are Modest Contributors to Parkinson's Disease Susceptibility. [PDF]

Mov Disord
Parlar SC, Lee Y, Gan-Or Z.
europepmc   +1 more source

Transcriptional changes in the peripheral blood of at-risk individuals without clinical manifestation of Parkinson’s Disease

Whittle B, Chen C, Izuogu O, Jackson M, Santibanez-Koref M, Hudson G.   +5 more
europepmc   +1 more source

The Race to Salvage Glucocerebrosidase: Understanding Small-Molecule Therapies for GBA1-Associated Parkinsonism. [PDF]

Mov Disord
Henderson MJ, Chen TC, Glasstetter LM, Chen Y, Marugan JJ, Sidransky E.   +5 more
europepmc   +1 more source

Early Diagnosis of Gaucher Disease and ASMD in Sardinia: The "Ichnos" Project. [PDF]

Mediterr J Hematol Infect Dis
Costa A, Perra D, Mulas O, Podda L, Longu F, Fozza C, Palmas A, Curreli L, Cappellini MD, Zizzo C, Caocci G.   +10 more
europepmc   +1 more source

N-acetyl-l-leucine lowers α-synuclein levels and improves synaptic function in Parkinson's disease models. [PDF]

J Clin Invest
Song P, Chen C, Franchini R, Duong B, Wang YZ, Coukos R, Xie Z, Savas JN, Zhou Y, Bertoldi M, Surmeier DJ, Parisiadou L, Krainc D.   +12 more
europepmc   +1 more source

Genetic Testing by Age at Onset in Parkinson Disease.

JAMA Neurol
Balck A, Vollstedt EJ, Westenberger A, Lange LM, Trinh J, Kasten M, Lohmann K, Brüggemann N, Trenkwalder C, Mollenhauer B, Alcalay R, Galvelis KG, Beck JC, Bauer P, Klein C, König IR, Global Parkinson’s Genetics Program (GP2), the ROPAD Study Group, and the PDGENEration Study.   +18 more
europepmc   +1 more source

GBA1 Gene-Associated Transcriptomic Signatures Reveal Risk Genes in Parkinson's Disease. [PDF]

Biomedicines
Liu Y, Luo X, Fleming RMT.
europepmc   +1 more source