430 makale bulundu

GBA-İlgili Parkinson Hastalığı Riskini Azaltmak için Preimplantasyon Genetik Testi (PGT): Embriyo Seçimi için Uygulamaların Genişletilmesi.

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

<i>LRRK2</i>G2019S ve <i>GBA1</i> taşıyıcılarda polijenik risk skorunun PD riski ve fenotip üzerindeki etkisi.

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

GBA1-Bağımlı Parkinson Hastalığında Parasempatik Disfonksiyon Prevailleri.

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

⁇ i>GBA1 ⁇ /i>-İlgili Parkinson Hastalığının Küresel Bir Perspektifi: Anlatısal Bir İnceleme.

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

Afrika atası nörodejenerasyon risk varyantı, GBA1'deki bir intronik dalı bozar.

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

GBA1 varyant taşıyıcılarında Parkinson hastalığı ile ilişkili maruz kalma faktörleri ve klinik özellikler: Çin GBA1-PD intrafamilial bir anket.

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 ve Parkinson hastalığı - İsveç nüfusunda bir ilişki eksikliğinin daha fazla kanıtı.

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

Parkinson hastalığında ve demansta, GBA1 varyantları olan ve olmayan Lewy gövdeli CSF d18:1 sfingolipid türleri.

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

Parkinson'a Bağlı GBA1 E326K Mutasyonunun ⁇ -Glucocerebrosidase Dimerizasyonu ve Bir Silico Yaklaşımı Yoluyla İnteraktom Dinamikleri Üzerindeki Etkisinin Araştırılması.

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