430 articles found

Preimplantation Genetic Testing (PGT) to Reduce the Risk for GBA-Related Parkinson's Disease: Expanding the Applications for Embryo Selection.

Zuckerman S, Zimran A, Szer J, Revel-Vilk S, Altarescu G.

Int J Mol Sci · 2025-01-22

DOI: 10.3390/ijms26030912PMID: 39940681

The effect of polygenic risk score on PD risk and phenotype in <i>LRRK2</i> G2019S and <i>GBA1</i> carriers.

Goldstein O, Shani S, Gana-Weisz M, Elkoshi N, Casey F, Sun YH, Chandratre K, Cedarbaum JM, Blauwendraat C, Bar-Shira A, Thaler A, Gurevich T, Mirelman A, Giladi N, Orr-Urtreger A, Alcalay RN.

J Parkinsons Dis · 2025-01-17

DOI: 10.1177/1877718x241310722PMID: 39973498

Parasympathetic Dysfunction Prevails in GBA1-Associated Parkinson's Disease.

De Santis T, Cocco A, Castiglioni P, Ferrarin M, Mineri R, Morenghi E, Avenali M, Albanese A.

Mov Disord Clin Pract · 2024-12-20

DOI: 10.1002/mdc3.14314PMID: 39704332

A Global Perspective of <i>GBA1</i>-Related Parkinson's Disease: A Narrative Review.

Koros C, Bougea A, Alefanti I, Simitsi AM, Papagiannakis N, Pachi I, Sfikas E, Antonelou R, Stefanis L.

Genes (Basel) · 2024-12-16

DOI: 10.3390/genes15121605PMID: 39766872

African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.

Álvarez Jerez P, Wild Crea P, Ramos DM, Gustavsson EK, Radefeldt M, Damianov A, Makarious MB, Ojo OO, Billingsley KJ, Malik L, Daida K, Bromberek S, Hu F, Schneider Z, Surapaneni AL, Stadler J, Rizig M, Morris HR, Pantazis CB, Leonard HL, Screven L, Qi YA, Nalls MA, Bandres-Ciga S, Hardy J, Houlden H, Eng C, Burchard EG, Kachuri L, Lin CH, Black DL, Global Parkinson’s Genetics Program (GP2), Singleton AB, Fischer S, Bauer P, Reed X, Ryten M, Beetz C, Ward M, Okubadejo NU, Blauwendraat C.

Nat Struct Mol Biol · 2024-12-12

DOI: 10.1038/s41594-024-01423-2PMID: 39668204

Letter to the editor: Exposure factors and clinical characteristics associated with Parkinson's disease in GBA1 variant carriers: A Chinese GBA1-PD intrafamilial survey.

Huang M.

Parkinsonism Relat Disord · 2024-12-03

DOI: 10.1016/j.parkreldis.2024.107222PMID: 39645415

Associations between basal forebrain volume and cognitive decline in GBA and LRRK2 mutation carriers from asymptomatic stages to Parkinson’s disease

Schumacher J, Teipel S, Storch A.

Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024-12-01

Exposure factors and clinical characteristics associated with Parkinson's disease in GBA1 variant carriers: A Chinese GBA1-PD intrafamilial survey.

Zhang X, Zhao Y, Jiang L, Hu Y, Liu Z, Xu Q, Wang C, Lei L, Li P, Tan Z, Wu H, Shen L, Jiang H, Yan X, Tang B, Guo J.

Parkinsonism Relat Disord · 2024-11-19

DOI: 10.1016/j.parkreldis.2024.107212PMID: 39581168

GBA1 T369M and Parkinson's disease - Further evidence of a lack of association in the Swedish population.

Brolin KA, Bäckström D, Wallenius J, Gan-Or Z, Puschmann A, Hansson O, Swanberg M.

Parkinsonism Relat Disord · 2024-10-31

DOI: 10.1016/j.parkreldis.2024.107191PMID: 39514913

CSF d18:1 sphingolipid species in Parkinson disease and dementia with Lewy bodies with and without GBA1 variants.

Lerche S, Wurster I, Valente EM, Avenali M, Samaniego D, Martínez-Vicente M, Hernández-Vara J, Laguna A, Sturchio A, Svenningsson P, France NP, Barlow C, Sankaranarayanan S, Brockmann K.

NPJ Parkinsons Dis · 2024-10-24

DOI: 10.1038/s41531-024-00820-0PMID: 39448669

Investigating the Impact of the Parkinson's-Associated GBA1 E326K Mutation on β-Glucocerebrosidase Dimerization and Interactome Dynamics Through an In Silico Approach.

Pietrafesa D, Casamassa A, Benassi B, Santoro M, Marano M, Consales C, Rosati J, Arcangeli C.

Int J Mol Sci · 2024-10-24

DOI: 10.3390/ijms252111443PMID: 39518995

Correction: Parkinson's disease in a patient with GBA and LRRK2 covariants after acute hypoxic insult: a case report.

Tang Y, Wei L, Wu Z, Xu P, Mo M.

BMC Neurol · 2024-10-18

DOI: 10.1186/s12883-024-03916-5PMID: 39425052