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424 articles found

“Parkinson GBA” Clear search

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Classification of GBA1 variants and their impact on Parkinson's disease: an in silico score analysis.

Lanore A, Tesson C, Basset A, Lejeune FX, Cogan G, Mangone G, Sambin S, Bertille N, Anheim M, Arnulf I, Ansquer S, Brandel JP, Brefel-Courbon C, Defebvre L, Drapier S, Eusebsio A, Fabbri M, Giordana C, Hainque E, Lehericy S, Marques A, Moreau C, Moro E, Ory F, Rolland AS, Thobois S, Vidailhet M, Devos D, Mariani LL, Lesage S, Brice A, Corvol JC, Predistim study group, Iceberg study group, NSPark study group.

NPJ Parkinsons Dis · 2025-08-02

DOI: 10.1038/s41531-025-01060-6PMID: 40753162

A bibliographic record traceable to Europe PMC. Türkçe başlık: makine çevirisi, editoryal kontrol bekliyor.
Open access

Distinctive cognitive phenotypes in Parkinson's disease patients with GBA mutations and without dementia: a multicentre cross-sectional retrospective study.

Longo C, Liccari M, Bacchin R, Papagno C, Ottaviani D, Giacopo RD, Catalan M, Menichelli A, Marano M, Fonzo AD, Duro G, Zizzo C, Manganotti P, Giometto B, Malaguti MC.

Clin Park Relat Disord · 2025-07-04

DOI: 10.1016/j.prdoa.2025.100365PMID: 40687116

A bibliographic record traceable to Europe PMC.
Open access

Effects of GBA1 Variants in Patients With Parkinson's Disease and Levodopa-Carbidopa Intestinal Gel: A Nation-Wide, Multicenter, Longitudinal, "Real-World" Study. The EPIC Study.

Cilia R, Colucci F, Cereda E, Elia AE, Leta V, Barca S, Zibetti M, Carecchio M, Bonvegna S, Calandra-Buonaura G, Cerroni R, De Micco R, Tamburin S, Magistrelli L, Lena F, Mascia MM, Picillo M, Cossu G, Marano M, Zampogna A, Pellicano C, Fioravanti V, Pilotto A, Zangaglia R, Avenali M, Sorbera C, Di Biasio F, Arienti F, Nicoletti A, Bagella C, Malaguti MC, Ranghetti A, Caputo E, Alimonti D, Torre E, Oggioni GD, Leuzzi C, Romito LM, Andreasi NG, Devigili G, Telese R, Braccia A, Gaudiano G, Mazzetti S, Invernizzi F, Garavaglia B, Imbalzano G, Ledda C, Antenucci P, Gozzi A, Bonato G, Percetti M, Giannini G, Sambati L, Schirinzi T, D'Anna M, Rinaldi D, Cavallieri F, Liccari M, Priori A, Sessa M, Tamma F, Canesi M, Solla P, Zappia M, Di Fonzo A, Avanzino L, Quartarone A, Valente EM, Pacchetti C, Padovani A, Valzania F, Pontieri FE, Suppa A, Pellecchia MT, Modugno N, Comi C, Tinazzi M, Tessitore A, Stefani A, Cortelli P, Isaias IU, Antonini A, Sensi M, Lopiano L, Eleopra R.

Eur J Neurol · 2025-07-01

DOI: 10.1111/ene.70179PMID: 40662275

A bibliographic record traceable to Europe PMC. Türkçe başlık: makine çevirisi, editoryal kontrol bekliyor.
Open access

LC-MS/MS-Based Determination of Ambroxol in Human Plasma and Cerebrospinal Fluid: Validation and Applicability in a Phase II Study on GBA-Associated Parkinson's Disease Patients.

Franco V, Palmisani M, Colucci F, De Micco R, Aloisio S, Cazzaniga F, Cerri S, Crema F, Dattrino F, Garavaglia B, Gastaldi M, Mitrotti P, Moda F, Rota P, Stiuso R, Tassorelli C, Eleopra R, Tessitore A, Valente EM, Avenali M, Cilia R.

Int J Mol Sci · 2025-06-25

DOI: 10.3390/ijms26136094PMID: 40649871

A bibliographic record traceable to Europe PMC. Türkçe başlık: makine çevirisi, editoryal kontrol bekliyor.
Open access

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

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.

Neurol Sci · 2025-06-20

DOI: 10.1007/s10072-025-08286-5PMID: 40542290

A bibliographic record traceable to Europe PMC. Türkçe başlık: makine çevirisi, editoryal kontrol bekliyor.
Source record

GM1 oligosaccharide-mediated rescue in GBA-linked Parkinson's disease via modulation of lysosomal and mitochondrial dysfunctions.

Lunghi G, Pedroli C, Tagliabue I, Dobi D, Ciampa MG, Mauri L, Rouvière L, Henriques A, Callizot N, Sonnino S, Chiricozzi E, Fazzari M.

Glycoconj J · 2025-06-04

DOI: 10.1007/s10719-025-10185-yPMID: 40461737

A bibliographic record traceable to Europe PMC. Türkçe başlık: makine çevirisi, editoryal kontrol bekliyor.

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