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“Parkinson LRRK2” Clear search

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The LRRK2 p.L1795F variant causes Parkinson's disease in the European population.

Lange LM, Levine K, Fox SH, Marras C, Ahmed N, Kuznetsov N, Vitale D, Iwaki H, Lohmann K, Marsili L, Espay AJ, Bauer P, Beetz C, Martin J, Factor SA, Higginbotham LA, Chen H, Leonard H, Nalls MA, Mencacci NE, Morris HR, Singleton AB, Klein C, Blauwendraat C, Fang ZH, Global Parkinson’s Genetics Program (GP2).

NPJ Parkinsons Dis · 2025-03-25

DOI: 10.1038/s41531-025-00896-2PMID: 40133296

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

Prevalence and Clinical Characteristics of the LRRK2 p.L1795F Variant in Central Europeans with Early-Onset and Familial Parkinson's Disease.

Ostrozovicova M, Tamas G, Atputhavadivel A, Dusek P, Grofik M, Han V, Holly P, Jech R, Kalinova K, Klivenyi P, Kovacs N, Kulcsarova K, Kurca E, Lackova A, Lee H, Lewis P, Magocova V, Marekova M, Murphy D, Nagano A, Necpal J, Pinter D, Rabajdova M, Ruzicka E, Serranova T, Smilowska K, Soos K, Straka I, Svorenova T, Valkovic P, Zarubova K, Gdovinova Z, Houlden H, Rizig M, Skorvanek M, CEGEMOD consortium.

Mov Disord Clin Pract · 2025-03-22

DOI: 10.1002/mdc3.70045PMID: 40119633

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

<i>LRRK2</i>-associated parkinsonism with and without <i>in vivo</i> evidence of alpha-synuclein aggregates: longitudinal clinical and biomarker characterization.

Chahine LM, Lafontant DE, Choi SH, Iwaki H, Blauwendraat C, Singleton AB, Brumm MC, Alcalay RN, Merchant K, Nudelman KNH, Dagher A, Vo A, Tao Q, Venuto CS, Kieburtz K, Poston KL, Bressman S, Gonzalez-Latapi P, Avants B, Coffey C, Jennings D, Tolosa E, Siderowf A, Marek K, Simuni T, Parkinson’s Progression Markers Initiative .

Brain Commun · 2025-03-06

DOI: 10.1093/braincomms/fcaf103PMID: 40114783

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

Clinical and functional evidence for the pathogenicity of the LRRK2 p.Arg1067Gln variant.

Lim SY, Toh TS, Hor JW, Lim JL, Lit LC, Ahmad-Annuar A, Tay YW, Foo JN, Ng EY, Muthusamy KA, Mohamed Ibrahim N, Ibrahim KA, Tan LCS, Zulkefli J, Khairul Anuar AN, Black K, Lis P, Xie F, Cen Z, Lim KS, Lohmann K, Padmanabhan S, Alessi DR, Luo W, Tan EK, Sammler E, Tan AH.

NPJ Parkinsons Dis · 2025-02-23

DOI: 10.1038/s41531-025-00884-6PMID: 39988587

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

Heartbeat signature for predicting motor and non-motor involvement among nonparkinsonian LRRK2 G2019S mutation carriers.

Carricarte Naranjo C, Marras C, Visanji NP, Cornforth DJ, Sanchez-Rodriguez L, Schüle B, Goldman SM, Estévez M, Stein PK, Jelinek HF, Lang AE, Machado A.

Clin Auton Res · 2025-02-19

DOI: 10.1007/s10286-024-01104-6PMID: 39969690

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

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