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425 articles found

“Parkinson GBA” Clear search

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Lewy pathology formation in patient-derived GBA1 Parkinson's disease midbrain organoids.

Frattini E, Faustini G, Lopez G, Carsana EV, Tosi M, Trezzi I, Magni M, Soldà G, Straniero L, Facchi D, Samarani M, Martá-Ariza M, De Luca CMG, Vezzoli E, Pittaro A, Stepanyan A, Silipigni R, Rosety I, Schwamborn JC, Sardi SP, Moda F, Corti S, Comi GP, Blandini F, Tritsch NX, Bortolozzi M, Ferrero S, Cribiù FM, Wisniewski T, Asselta R, Aureli M, Bellucci A, Di Fonzo A.

Brain · 2025-04-01

DOI: 10.1093/brain/awae365PMID: 39570889

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

LONG-NEXT: A new accurate and efficient NGS-based method for GBA1 analysis in Parkinson disease.

Cuconato G, Palmieri I, Percetti M, Pagliarani S, Tenace S, Morelli MJ, Zapparoli E, Avenali M, Carelli V, Dentelli P, Fiorentino A, Gaudio A, Ledda C, Mandich P, Marino S, Martone T, Minardi R, Origone P, Ormanbekova D, Pasini B, Scarabotto A, Sorbera C, Trevisan L, PARKNET Study Group, Di Fonzo A, Valente EM, Monfrini E.

Parkinsonism Relat Disord · 2025-03-14

DOI: 10.1016/j.parkreldis.2025.107780PMID: 40157138

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

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

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

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

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

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