Results 111 to 120 of about 3,043 (176)

Underlying Mechanisms of GBA1 in Parkinson's Disease and Dementia with Lewy Bodies: Narrative Review. [PDF]

Genes (Basel)
Bougea A.
europepmc   +1 more source

Case Report: Progressive myoclonus epilepsy as an early manifestation of neuronopathic Gaucher disease. [PDF]

Front Neurosci
Fang Z, Sun X, Hu Y, Xie C, Chen X, Jiang Y.   +5 more
europepmc   +1 more source

Author Correction: The genetic architecture of Parkinson's disease on the Island of Crete. [PDF]

NPJ Parkinsons Dis
Boura I, Sait S, Marinakis NM, Arvind K, Chia R, Ray A, Vatsellas G, Loupis T, Pavlaki V, Makrythanasis P, Mitsias P, Xiromerisiou G, Scholz SW, Spanaki C.   +13 more
europepmc   +1 more source

From Lysosomal Storage to Neurodegeneration: Sphingolipid Signaling as a Driver of CNS Pathology and Biomarker Strategy in Neuronopathic Gaucher Disease. [PDF]

Int J Mol Sci
Casazza K, Kartha RV, Jarnes JR.
europepmc   +1 more source

Reply to: Is Gauchian genotyping of GBA1 variants reliable?

Communications Biology
Marco Toffoli, Anthony H. V. Schapira, Fritz J. Sedlazeck, Christos Proukakis   +3 more
openaire   +3 more sources

Pathological Protein Targets in Parkinson's Disease: Progress Towards the Development of Disease-Modifying Therapies. [PDF]

CNS Drugs
Dzamko N.
europepmc   +1 more source

Refining Mouse Models of Gaucher Disease: Advancing Mechanistic Insights, Biomarker Discovery, and Therapeutic Strategies. [PDF]

Int J Mol Sci
Fattahi N, Ruan J, Belinsky G, Xing S, Mistry PK, Nair S.   +5 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

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

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