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173.791 articles found

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CNPY3 variants associated with a recessive developmental and epileptic encephalopathy affect inflammasome and TLR function.

Garloff V, Grimmel M, Maroofian R, Efthymiou S, Stengel S, Bello D, Tille C, Ghait M, Ohlenschläger O, Dieckmann A, de Vries H, Waginger M, Nadeef S, Barkhordari E, Kaiyrzhanov R, Bühler S, Pjeci I, Beck-Wödl S, Alvi JR, Sultan T, Chassevent A, Smith-Hicks C, Mishina I, Rodríguez-Palmero A, Wassmer E, Vogt J, Meudt CM, Jamra RA, Abbaszadegan MR, Ajami N, Azizimalamiri R, Galehdari H, Chamanrou N, Zamani M, Shariati G, Nourbakhsh P, Ali FB, Fatima A, Hashmi SN, Iqbal Z, Kaleem S, Toft M, Afzal E, Maqbool S, Rahman F, Salpietro V, Grisval M, Racine C, Januel L, Cheillan D, Acquaviva-Bourdain C, Al Alam C, Alfadhel M, Umair M, Oehl-Jaschkowitz B, Haider S, Jain V, Narang B, Amer F, Elkhateeb N, Alvarez C, Pérez-Palma E, Ríos-Pohl L, Møller RS, Baruah D, Lingappa L, Farooq A, Zaki MS, Svyatova G, Murtazalieva A, Burabayeva A, Salayev K, Guliyeva U, Kahrizi K, Najmabadi H, Revah-Politi A, Mulhern MS, Sands TT, Mustafa HM, Rao HA, Oprea G, Rad A, Miryounesi M, Mardi A, Gowda VK, Srinivasan VM, Alanazi RM, Abumansour IS, Alhaddad B, Bakur K, Bauer M, Alkuraya FS, Huppke P, Houlden H, Haack TB, Rubio I, Husain RA.

EBioMedicine · 2026-10-14

DOI: 10.1016/j.ebiom.2026.106506PMID: 42874293

A bibliographic record traceable to Europe PMC. Türkçe başlık: makine çevirisi, editoryal kontrol bekliyor.
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GCH1 p.Ser80Asn Confers Risk for Parkinson's Disease in East Asian Populations.

Tay YW, Lee AL, Schee JP, Lin CH, Tan EK, Shin JH, Chen PS, Fan SP, Li CH, Ng EYL, Kim HJ, Jeon B, Koks S, Vu HTT, Mok KY, Lim YT, Kamaruddin MS, Toh TS, Ding HX, Anuar ANK, Ramli N, Keller Sarmiento IJ, Periñan MT, Fang ZH, Lange LM, Kumar KR, Bardien S, Trinh J, Valente EM, SG10K_Health Consortium, the Global Parkinson's Genetics Program (GP2), Heutink P, Lohmann K, Klein C, Mencacci NE, Lim SY, Ahmad-Annuar A, Tan AH.

Mov Disord · 2026-10-14

DOI: 10.1002/mds.70530PMID: 42876073

A bibliographic record traceable to Europe PMC.
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Neurofilament Light Chain and Mutant Huntingtin Across Huntington's Disease Integrated Staging System Stages in Huntington Disease: A Cross-Sectional Multimodal Analysis.

Pérez-Pérez J, Olmedo-Saura G, Puig Davi A, Pérez González R, Pegueroles J, Horta-Barba A, Vázquez Oliver A, Rivas Asensio E, Alcolea D, Fortea J, Guasch-Jiménez M, Xuclà Ferrarons T, Sampedro Santaló F, Bojtos L, López-Lombardía Ó, Aracil-Bolaños I, Pascual-Sedano B, Franch Martí C, Pérez Carasol L, Rubio Romera M, Ji Y, Gironell A, Campolongo A, Martínez-Fernández R, Lleó A, Pagonabarraga J, Martínez-Horta S, Kulisevsky J, BCN‐HD Working Group;, HDClarity investigators.

Mov Disord · 2026-10-14

DOI: 10.1002/mds.70550PMID: 42876089

A bibliographic record traceable to Europe PMC.
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Integrating graph attention networks and deep learning with multi-stage computational screening: Bisdemethoxycurcumin as a potent A₂A receptor inhibitor for Parkinson's disease.

Otmanine K, Hammoudi M, Bendriss H, Feraoun B, Mekhane S, Gherioune N, Benmehache C, Kerrouzi I, Ayadi K, El Miloudi K, Benghalia MA, Otmanine MK, Hentabli M.

Bioorg Chem · 2026-10-14

DOI: 10.1016/j.bioorg.2026.110653PMID: 42893649

A bibliographic record traceable to Europe PMC.

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