Identification of TMEM230 mutations in familial Parkinson's disease

Autor: Jeffery M. Vance, Lijun Cheng, Hong Zhai, Cao Huang, Sheng Deng, Bo Huang, Kreshnik B. Ahmeti, Zhi Song, Joseph Jankovic, Onur Melen, Teepu Siddique, Nailah Siddique, Myung Jong Kim, Daniel A. Nicholson, Zhenhua Liu, Xiao Ping Gao, Nicola J. Corbett, Dimitri Krainc, Han Xiang Deng, Karen Nuytemans, Yanming Xu, Beisha Tang, Bernardino Ghetti, Margaret A. Pericak-Vance, Piu Chan, Yong Chao Ma, Yong Shi, Tatiana Foroud, Nimrod Miller, Ali H. Rajput, Ziquang Yang, Yi Yang, Hao Deng, Faisal Fecto

Publikováno v: Neurosci Bull
Nature genetics

Parkinson’s disease is the second most common neurodegenerative disorder without effective treatment. It is generally sporadic with unknown etiology. However, genetic studies of rare familial forms have led to the identification of mutations in sev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50922232d2c2a0b1343349aac3266ed9
https://pubmed.ncbi.nlm.nih.gov/35536503

A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis

Autor: Massimo Corbo, Cristina Cereda, Simon Cronin, Carl D. Langefeld, John Landers, Evadnie Rampersaud, Silvana Penco, Stefano Signorini, Jonathan D. Glass, Simon Topp, Gkazi Athina Soraya, Jan H. Veldink, Giancarlo Logroscino, Michael A van Es, Anne Birve, Karen E. Morrison, Davide Gentilini, Robert H. Brown, Paul W.J. van Vught, Jack W. Miller, Franco Taroni, Kreshnik B. Ahmeti, Stefania Corti, Barbara Castellotti, Aldo Quattrone, Senda Ajroud-Driss, Judith Melki, Philip Van Damme, Gabriele Siciliano, Vincent Meininger, Daniela Calini, Julie Williams, Cinzia Gellera, Anne Farmer, Valentina Moskvina, Antonia Ratti, Jonathan L. Haines, John Powell, Giacomo P. Comi, Scott Heller, Sandra D'Alfonso, Nailah Siddique, Margaret A. Pericak-Vance, Angela Marsili, Gabriele Mora, Stella Gagliardi, Peter M. Andersen, Giorgia Querin, Orla Hardiman, Anna Maria Di Blasio, Nicola Ticozzi, Maurizio Inghilleri, Francesco Saccà, Wu-Yen Hung, Cinzia Tiloca, J.G. Zheng, Letizia Mazzini, Mary C. Comeau, Michael E. Weale, James M. Jaworski, Jie Huang, Jennifer Armstrong, Filosto Massimo, Elena Pegoraro, Caroline Vance, Roberto Del Bo, Ewout J N Groen, Teepu Siddique, Nigel Leigh, Lucia Corrado, Josh D. Grab, Mauro Ceroni, Christopher Shaw, Massimiliano Filosto, Alessandra Ferlini, Vincenzo Silani, Adriano Chiò, Sandro Sorbi, Isabella Fogh, Giorgia Puorro, Wenjie Chen, Maria Rosaria Monsurrò, Alessandro Filla, Humaira Khan, Wim Robberecht, Cathryn M. Lewis, Ashley R. Jones, Pensato Viviana, Kuang Lin, Pamela J. Shaw, Ammar Al-Chalabi, Bryan J. Traynor, Leonard H. van den Berg, Michael Sendtner, Vincenzo Brescia Morra, Aleksey Shatunov, Frank P. Diekstra, Vincenzo La Bella, Gianni Sorarù, Robert L. Sufit, Daniel J. Overste, Yi Yang, Paolo Bongioanni, Miranda C. Marion, Bradley N. Smith, Francesca Luisa Conforti, Hylke M. Blauw, Lucie Bruijn, Isabella Laura Simone, Russell L. McLaughlin

Publikováno v: Europe PubMed Central
Human Molecular Genetics; Vol 23
Human molecular genetics online 23 (2014): 2220–2231. doi:10.1093/hmg/ddt587
info:cnr-pdr/source/autori:Fogh I.; Ratti A.; Gellera C.; Lin K.; Tiloca C.; Moskvina V.; Corrado L.; Soraru G.; Cereda C.; Corti S.; Gentilini D.; Calini D.; Castellotti B.; Mazzini L.; Querin G.; Gagliardi S.; Del bo R.; Conforti F.L.; Siciliano G.; Inghilleri M.; Sacca F.; Bongioanni P.; Penco S.; Corbo M.; Sorbi S.; Filosto M.; Ferlini A.; Di blasio A.M.; Signorini S.; Shatunov A.; Jones A.; Shaw P.J.; Morrison K.E.; Farmer A.E.; Van damme P.; Robberecht W.; Chio A.; Traynor B.J.; Sendtner M.; Melki J.; Meininger V.; Hardiman O.; Andersen P.M.; Leigh N.P.; Glass J.D.; Overste D.; Diekstra F.P.; Veldink J.H.; Van es M.A.; Shaw C.E.; Weale M.E.; Lewis C.M.; Williams J.; Brown R.H.; Landers J.E.; Ticozzi N.; Ceroni M.; Pegoraro E.; Comi G.P.; D'alfonso S.; Van den berg L.H.; Taroni F.; Al-chalabi A.; Powell J.; Silani V./titolo:A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis/doi:10.1093%2Fhmg%2Fddt587/rivista:Human molecular genetics online/anno:2014/pagina_da:2220/pagina_a:2231/intervallo_pagine:2220–2231/volume:23

Identification of mutations at familial loci for amyotrophic lateral sclerosis (ALS) has provided novel insights into the aetiology of this rapidly progressing fatal neurodegenerative disease. However, genome-wide association studies (GWAS) of the mo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b6e1bce54d3808f54afe2280c62d653
https://pubmed.ncbi.nlm.nih.gov/24256812

Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1

Autor: Kreshnik B, Ahmeti, Senda, Ajroud-Driss, Ammar, Al-Chalabi, Peter M, Andersen, Jennifer, Armstrong, Anne, Birve, Hylke M, Blauw, Robert H, Brown, Lucie, Bruijn, Wenjie, Chen, Adriano, Chio, Mary C, Comeau, Simon, Cronin, Frank P, Diekstra, Athina, Soraya Gkazi, Jonathan D, Glass, Josh D, Grab, Ewout J, Groen, Jonathan L, Haines, Orla, Hardiman, Scott, Heller, Jie, Huang, Wu-Yen, Hung, James M, Jaworski, Ashley, Jones, Humaira, Khan, John E, Landers, Carl D, Langefeld, P Nigel, Leigh, Miranda C, Marion, Russell L, McLaughlin, Vincent, Meininger, Judith, Melki, Jack W, Miller, Gabriele, Mora, Margaret A, Pericak-Vance, Evadnie, Rampersaud, Wim, Robberecht, Laurie P, Russell, Francois, Salachas, Christiaan G, Saris, Aleksey, Shatunov, Christopher E, Shaw, Nailah, Siddique, Teepu, Siddique, Bradley N, Smith, Robert, Sufit, Simon, Topp, Bryan J, Traynor, Caroline, Vance, Philip, van Damme, Leonard H, van den Berg, Michael A, van Es, Paul W, van Vught, Jan H, Veldink, Yi, Yang, J G, Zheng

Publikováno v: Neurobiology of Aging; Vol 34

Amyotrophic lateral sclerosis (ALS) is the third most common adult-onset neurodegenerative disease. Individuals with ALS rapidly progress to paralysis and die from respiratory failure within 3 to 5 years after symptom onset. Epidemiological factors e

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ef78b91979c3fdebcd1d8cec5d79531