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621 results

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Page 1
Neurofilament light levels predict clinical progression and death in multiple system atrophy.
Chelban V, Nikram E, Perez-Soriano A, Wilke C, Foubert-Samier A, Vijiaratnam N, Guo T, Jabbari E, Olufodun S, Gonzalez M, Senkevich K, Laurens B, Péran P, Rascol O, Le Traon AP, Todd EG, Costantini AA, Alikhwan S, Tariq A, Ng BL, Muñoz E, Painous C, Compta Y, Junque C, Segura B, Zhelcheska K, Wellington H, Schöls L, Jaunmuktane Z, Kobylecki C, Church A, Hu MTM, Rowe JB, Leigh PN, Massey L, Burn DJ, Pavese N, Foltynie T, Pchelina S, Wood N, Heslegrave AJ, Zetterberg H, Bocchetta M, Rohrer JD, Marti MJ, Synofzik M, Morris HR, Meissner WG, Houlden H. Chelban V, et al. Among authors: tariq a. Brain. 2022 Dec 19;145(12):4398-4408. doi: 10.1093/brain/awac253. Brain. 2022. PMID: 35903017 Free PMC article.
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervåg A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard AC, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT, Pennavaria A, Krogstad LS, Bekkelund ÅK, Caiella A, Glomnes N, Brønstad KM, Tury S, Moreno De Luca A, Boland-Auge A, Olaso R, Deleuze JF, Anheim M, Cretin B, Vona B, Alajlan F, Abdulwahab F, Battini JL, İpek R, Bauer P, Zifarelli G, Gungor S, Kurul SH, Lochmuller H, Da'as SI, Fakhro KA, Gómez-Pascual A, Botía JA, Wood NW, Horvath R, Ernst AM, Rothman JE, McEntagart M, Crow YJ, Alkuraya FS, Nicolas G; SYNaPS Study Group; Arnesen T, Houlden H. Chelban V, et al. Among authors: tariq a. Nat Commun. 2024 Mar 13;15(1):2269. doi: 10.1038/s41467-024-46354-0. Nat Commun. 2024. PMID: 38480682 Free PMC article.
Electrical responses from human retinal cone pathways associate with a common genetic polymorphism implicated in myopia.
Jiang X, Xu Z, Soorma T, Tariq A, Bhatti T, Baneke AJ, Pontikos N, Leo SM, Webster AR, Williams KM, Hammond CJ, Hysi PG, Mahroo OA. Jiang X, et al. Among authors: tariq a. Proc Natl Acad Sci U S A. 2022 May 24;119(21):e2119675119. doi: 10.1073/pnas.2119675119. Epub 2022 May 20. Proc Natl Acad Sci U S A. 2022. PMID: 35594404 Free PMC article.
Prevalence of electronegative electroretinograms in a healthy adult cohort.
Jiang X, Bhatti T, Tariq A, Williams KM, Chow I, Dar T, Webster AR, Hysi PG, Hammond CJ, Mahroo OA. Jiang X, et al. Among authors: tariq a. BMJ Open Ophthalmol. 2021 Jul 19;6(1):e000751. doi: 10.1136/bmjophth-2021-000751. eCollection 2021. BMJ Open Ophthalmol. 2021. PMID: 34368462 Free PMC article.
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity.
Fallerini C, Picchiotti N, Baldassarri M, Zguro K, Daga S, Fava F, Benetti E, Amitrano S, Bruttini M, Palmieri M, Croci S, Lista M, Beligni G, Valentino F, Meloni I, Tanfoni M, Minnai F, Colombo F, Cabri E, Fratelli M, Gabbi C, Mantovani S, Frullanti E, Gori M, Crawley FP, Butler-Laporte G, Richards B, Zeberg H, Lipcsey M, Hultström M, Ludwig KU, Schulte EC, Pairo-Castineira E, Baillie JK, Schmidt A, Frithiof R; WES/WGS Working Group Within the HGI; GenOMICC Consortium; GEN-COVID Multicenter Study; Mari F, Renieri A, Furini S. Fallerini C, et al. Hum Genet. 2022 Jan;141(1):147-173. doi: 10.1007/s00439-021-02397-7. Epub 2021 Dec 10. Hum Genet. 2022. PMID: 34889978 Free PMC article.
Genetic mechanisms of critical illness in COVID-19.
Pairo-Castineira E, Clohisey S, Klaric L, Bretherick AD, Rawlik K, Pasko D, Walker S, Parkinson N, Fourman MH, Russell CD, Furniss J, Richmond A, Gountouna E, Wrobel N, Harrison D, Wang B, Wu Y, Meynert A, Griffiths F, Oosthuyzen W, Kousathanas A, Moutsianas L, Yang Z, Zhai R, Zheng C, Grimes G, Beale R, Millar J, Shih B, Keating S, Zechner M, Haley C, Porteous DJ, Hayward C, Yang J, Knight J, Summers C, Shankar-Hari M, Klenerman P, Turtle L, Ho A, Moore SC, Hinds C, Horby P, Nichol A, Maslove D, Ling L, McAuley D, Montgomery H, Walsh T, Pereira AC, Renieri A; GenOMICC Investigators; ISARIC4C Investigators; COVID-19 Human Genetics Initiative; 23andMe Investigators; BRACOVID Investigators; Gen-COVID Investigators; Shen X, Ponting CP, Fawkes A, Tenesa A, Caulfield M, Scott R, Rowan K, Murphy L, Openshaw PJM, Semple MG, Law A, Vitart V, Wilson JF, Baillie JK. Pairo-Castineira E, et al. Nature. 2021 Mar;591(7848):92-98. doi: 10.1038/s41586-020-03065-y. Epub 2020 Dec 11. Nature. 2021. PMID: 33307546
Mapping the human genetic architecture of COVID-19.
COVID-19 Host Genetics Initiative. COVID-19 Host Genetics Initiative. Nature. 2021 Dec;600(7889):472-477. doi: 10.1038/s41586-021-03767-x. Epub 2021 Jul 8. Nature. 2021. PMID: 34237774 Free PMC article.
621 results