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23 results

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Page 1
Diagnostic and prognostic value of α-synuclein seed amplification assay kinetic measures in Parkinson's disease: a longitudinal cohort study.
Orrú CD, Vaughan DP, Vijiaratnam N, Real R, Martinez-Carrasco A, Fumi R, Jensen MT, Hodgson M, Girges C, Gil-Martinez AL, Stafford EJ, Wu L, Lerche S, Wurster I, Groveman BR, Hughson AG, Ansorge O, Quaegebeur A, Allinson KSJ, Warner TT, Jaunmuktane Z, Misbahuddin A, Leigh PN, Ghosh BCP, Bhatia KP, Church A, Kobylecki C, Hu MTM, Rowe JB, Parchi P, Brockmann K, Foltynie T, Morris HR, Caughey B, Jabbari E. Orrú CD, et al. Among authors: gil martinez al. Lancet Neurol. 2025 Jul;24(7):580-590. doi: 10.1016/S1474-4422(25)00157-7. Lancet Neurol. 2025. PMID: 40541208 Free article.
Splicing accuracy varies across human introns, tissues, age and disease.
García-Ruiz S, Zhang D, Gustavsson EK, Rocamora-Perez G, Grant-Peters M, Fairbrother-Browne A, Reynolds RH, Brenton JW, Gil-Martínez AL, Chen Z, Rio DC, Botia JA, Guelfi S, Collado-Torres L, Ryten M. García-Ruiz S, et al. Among authors: gil martinez al. Nat Commun. 2025 Jan 27;16(1):1068. doi: 10.1038/s41467-024-55607-x. Nat Commun. 2025. PMID: 39870615 Free PMC article.
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria.
Gurung S, Timmermand OV, Perocheau D, Gil-Martinez AL, Minnion M, Touramanidou L, Fang S, Messina M, Khalil Y, Spiewak J, Barber AR, Edwards RS, Pinto PL, Finn PF, Cavedon A, Siddiqui S, Rice L, Martini PGV, Ridout D, Heywood W, Hargreaves I, Heales S, Mills PB, Waddington SN, Gissen P, Eaton S, Ryten M, Feelisch M, Frassetto A, Witney TH, Baruteau J. Gurung S, et al. Among authors: gil martinez al. Sci Transl Med. 2024 Jan 10;16(729):eadh1334. doi: 10.1126/scitranslmed.adh1334. Epub 2024 Jan 10. Sci Transl Med. 2024. PMID: 38198573 Free PMC article.
Author Correction: The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson's disease data.
Leonard HL, Murtadha R, Martinez-Carrasco A, Jama A, Müller-Nedebock AC, Gil-Martinez AL, Illarionova A, Moore A, Bustos BI, Jadhav B, Huxford B, Storm C, Towns C, Vitale D, Chetty D, Yu E, Grenn FP, Salazar G, Rateau G, Iwaki H, Elsayed I, Foote IF, Jansen van Rensburg Z, Kim JJ, Yuan J, Lake J, Brolin K, Senkevich K, Wu L, Tan MMX, Periñán MT, Makarious MB, Ta M, Pillay NS, Betancor OL, Reyes-Pérez PR, Alvarez Jerez P, Saini P, Al-Ouran R, Sivakumar R, Real R, Reynolds RH, Hu R, Abrahams S, Rao SC, Antar T, Leal TP, Iankova V, Scotton WJ, Song Y, Singleton A, Nalls MA, Dey S, Bandres-Ciga S, Blauwendraat C, Noyce AJ; International Parkinson Disease Genomics Consortium (IPDGC) and The Global Parkinson’s Genetics Program (GP2). Leonard HL, et al. Among authors: gil martinez al. NPJ Parkinsons Dis. 2023 May 24;9(1):77. doi: 10.1038/s41531-023-00529-6. NPJ Parkinsons Dis. 2023. PMID: 37225742 Free PMC article. No abstract available.
Splicing accuracy varies across human introns, tissues and age.
García-Ruiz S, Zhang D, Gustavsson EK, Rocamora-Perez G, Grant-Peters M, Fairbrother-Browne A, Reynolds RH, Brenton JW, Gil-Martínez AL, Chen Z, Rio DC, Botia JA, Guelfi S, Collado-Torres L, Ryten M. García-Ruiz S, et al. Among authors: gil martinez al. bioRxiv [Preprint]. 2023 Mar 30:2023.03.29.534370. doi: 10.1101/2023.03.29.534370. bioRxiv. 2023. Update in: Nat Commun. 2025 Jan 27;16(1):1068. doi: 10.1038/s41467-024-55607-x. PMID: 37034741 Free PMC article. Updated. Preprint.
The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson's disease data.
Leonard HL, Murtadha R, Martinez-Carrasco A, Jama A, Müller-Nedebock AC, Gil-Martinez AL, Illarionova A, Moore A, Bustos BI, Jadhav B, Huxford B, Storm C, Towns C, Vitale D, Chetty D, Yu E, Grenn FP, Salazar G, Rateau G, Iwaki H, Elsayed I, Foote IF, Jansen van Rensburg Z, Kim JJ, Yuan J, Lake J, Brolin K, Senkevich K, Wu L, Tan MMX, Periñán MT, Makarious MB, Ta M, Pillay NS, Betancor OL, Reyes-Pérez PR, Alvarez Jerez P, Saini P, Al-Ouran R, Sivakumar R, Real R, Reynolds RH, Hu R, Abrahams S, Rao SC, Antar T, Leal TP, Iankova V, Scotton WJ, Song Y, Singleton A, Nalls MA, Dey S, Bandres-Ciga S, Blauwendraat C, Noyce AJ; on behalf of The International Parkinson Disease Genomics Consortium (IPDGC) and The Global Parkinson’s Genetics Program (GP2). Leonard HL, et al. Among authors: gil martinez al. NPJ Parkinsons Dis. 2023 Mar 4;9(1):33. doi: 10.1038/s41531-023-00472-6. NPJ Parkinsons Dis. 2023. PMID: 36871034 Free PMC article.
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia.
Chen Z, Tucci A, Cipriani V, Gustavsson EK, Ibañez K, Reynolds RH, Zhang D, Vestito L, García AC, Sethi S, Brenton JW, García-Ruiz S, Fairbrother-Browne A, Gil-Martinez AL; Genomics England Research Consortium; Wood N, Hardy JA, Smedley D, Houlden H, Botía J, Ryten M. Chen Z, et al. Among authors: gil martinez al. Brain. 2023 Jul 3;146(7):2869-2884. doi: 10.1093/brain/awad009. Brain. 2023. PMID: 36624280 Free PMC article.
IntroVerse: a comprehensive database of introns across human tissues.
García-Ruiz S, Gustavsson EK, Zhang D, Reynolds RH, Chen Z, Fairbrother-Browne A, Gil-Martínez AL, Botia JA, Collado-Torres L, Ryten M. García-Ruiz S, et al. Among authors: gil martinez al. Nucleic Acids Res. 2023 Jan 6;51(D1):D167-D178. doi: 10.1093/nar/gkac1056. Nucleic Acids Res. 2023. PMID: 36399497 Free PMC article.
23 results