Not logged inIncreased frequency of repeat expansion mutations across different populations
Ibanez, Kristina; Jadhav, Bharati; Zanovello, Matteo; Gagliardi, Delia; Clarkson, Christopher; Facchini, Stefano; Garg, Paras; Martin-Trujillo, Alejandro; Gies, Scott J.; Deforie, Valentina Galassi; Dalmia, Anupriya; Moss, Davina J. Hensman; Vandrovcova, Jana; Rocca, Clarissa; Moutsianas, Loukas; Marini-Bettolo, Chiara; Walker, Helen; Turner, Chris; Shoai, Maryam; Long, Jeffrey D.; Fratta, Pietro; Langbehn, Douglas R.; Tabrizi, Sarah J.; Caulfield, Mark J.; Cortese, Andrea; Escott-Price, Valentina; Hardy, John; Houlden, Henry; Sharp, Andrew J.; Tucci, Arianna .png)
Share.png)
SaveRepeat expansions in NOP56 are a cause of spinocerebellar ataxia Type 36 in the British populationLam, Tanya; Rocca, Clarissa; Ibanez, Kristina; Dalmia, Anupriya; Tallman, Samuel; Hadjivassiliou, Marios; Hensiek, Anke; Nemeth, Andrea; Facchini, Stefano; Wood, Nicholas; Cortese, Andrea; Houlden, Henry; Tucci, Arianna Share Save HTT REPEAT INSTABILITY IN FAMILY TRIOS IN THE 100,000 GENOMES PROJECTMoss, Davina Hensman; Dalmia, Anupriya; Deforie, Valentina Galassi; Ibanez, Kristina; Tabrizi, Sarah J.; Lahiri, Nayana; Houlden, Henry; Holmans, Peter; Jones, Lesley; Tucci, Arianna Share Save Drug screen in iPSC-Neurons identifies nucleoside analogs as inhibitors of (G4C2)n expression in C9orf72 ALS/FTDCzuppa, Mareike; Dhingra, Ashutosh; Zhou, Qihui; Schludi, Carina; Koenig, Laura; Scharf, Elisabeth; Farny, Daniel; Dalmia, Anupriya; Taeger, Joachim; Castillo-Lizardo, Melissa; Katona, Eszter; Mori, Kohji; Aumer, Tina; Schelter, Florian; Mueller, Markus; Carell, Thomas; Kalliokoski, Tuomo; Messinger, Josef; Rizzu, Patrizia; Heutink, Peter; Edbauer, Dieter Share Save Share Save Share Save 
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
