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Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Dafsari HS, Deneubourg C, Singh K, Maroofian R, Suprenant Z, Kho AL, Ingham NJ, Steel KP, Sheshadri P, Baur F, Hentrich L, Gerisch B, Zamani M, Alves C, Siddiqui A, Dafsari HS, Salari M, Lang AE, Harris M, Abdelaleem A, Sadeghian S, Azizimalamiri R, Galehdari H, Shariati G, Sedaghat A, Zeighami J, Calame D, Marafi D, Duan R, Boehnke A, Clark GD, Rosenfeld JA, Mohila CA, Steel D, Chopra S, Sharma S, Kohlschmidt N, Patzer S, Saffari A, Ebrahimi-Fakhari D, Çavdartepe BE, Chang IJ, Beckman E, Peters R, Fennell AP, Lo B, Averdunk L, Distelmaier F, Baethmann M, Elmslie F, Joost K, Nampoothiri S, Yesodharan D, Mandel H, Kimball A, Kline AD, Mignot C, Keren B, Laugel V, Õunap K, Devadathan K, van Berkestijn FMC, Silwal A, Koene S, Verma S, Karim MY, Boubidi C, Aziz M, ElGhazali G, Mattas L, Miryounesi M, Hashemi-Gorji F, Alavi S, Nouri N, Noruzinia M, Kavousi S, Kamath A, Jayawant S, Saneto R, Haridy NA, Kart PO, Cansu A, Joubert M, Beneteau C, Stuurman KE, Wilke M, Barakat TS, Tajsharghi H, Scardamaglia A, Vallian S, Hız S, Shoeibi A, Boostani R, Hashemi N, Babaei M, Alsaleh NS, Porter J, Attié-Bitach T, Marzin P, Wicher D, Gold JI, Schuler E, Kashgari A, Alanazi RF, Eyaid W, Engelen M, Langeveld M, Stüve B, Li Y, Yigit G, Wollnik B, Monje MHG, Krainc D, Mencacci NE, Bakhtiari S, Kruer M, Argilli E, Sherr E, Jamshidi Y, Karimiani EG, Cheung YWS, Karin I, Zifarelli G, Bauer P, Chung WK, Lupski JR, Kurian MA, Dötsch J, von Kleist-Retzow JC, Klopstock T, Wagner M, Yip C, Roos A, Carsetti R, Dionisi-Vici C, Gautel M, Duchen MR, Antebi A, Houlden H, Fanto M, Jungbluth H.

Ann Neurol · 2025-10-06

DOI: 10.1002/ana.78013PMID: 41053928

A bibliographic record traceable to Europe PMC. Türkçe başlık: makine çevirisi, editoryal kontrol bekliyor.
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Effects of levodopa-entacapone-carbidopa intrajejunal infusion on non-motor symptoms of advanced Parkinson's disease-interim analysis of the ELEGANCE study.

Warnecke T, Odin P, García-Ramos R, Lopez L, Tulbă D, Dan TF, Jianu DC, Rožanković PB, van Laar T.

J Neural Transm (Vienna) · 2025-10-06

DOI: 10.1007/s00702-025-03033-8PMID: 41051549

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

Preliminary User-Centred Evaluation of a Bio-Cooperative Robotic Platform for Cognitive Rehabilitation in Parkinson's Disease and Mild Cognitive Impairment: Insights from a Focus Group and Living Lab in the OPERA Project.

Crocetto Y, Abagnale S, Martinelli G, Della Bella S, Pavan E, Rondoni C, Voscarelli A, Pirini M, Scotto di Luzio F, Zollo L, Cicarelli G, Polito C, Estraneo A.

J Clin Med · 2025-10-05

DOI: 10.3390/jcm14197042PMID: 41096122

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