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Brain : a Journal of Neurology|March 19, 2020
CYLD is a causative gene for frontotemporal dementia - amyotrophic lateral sclerosisCarol Dobson-Stone, Marianne Hallupp, Hamideh Shahheydari, et al.Nature|March 5, 2013
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALSHong Joo Kim, Nam Chul Kim, Yong-Dong Wang, et al.European Journal of Human Genetics : EJHG|June 14, 2012
The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founderBradley N Smith, Stephen Newhouse, Aleksey Shatunov, et al.Neurobiology of Aging|December 27, 2016
ATXN2 trinucleotide repeat length correlates with risk of ALSWilliam Sproviero, Aleksey Shatunov, Daniel Stahl, et al.JAMA Neurology|June 1, 2016
Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral SclerosisIsabella Fogh, Kuang Lin, Cinzia Tiloca, et al.Science Translational Medicine|May 5, 2017
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosisBradley N Smith, Simon D Topp, Claudia Fallini, et al.Neurobiology of Aging|September 11, 2012
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1Kreshnik B Ahmeti, Senda Ajroud-Driss, Ammar Al-Chalabi, et al.Neuron|November 7, 2014
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALSBradley N Smith, Nicola Ticozzi, Claudia Fallini, et al.Science (New York, N.Y.)|February 21, 2015
Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathwaysElizabeth T Cirulli, Brittany N Lasseigne, Slavé Petrovski, et al.Nature Genetics|March 31, 2026
Large-scale exome analyses reveal new rare variant contributions in amyotrophic lateral sclerosisPaul J Hop, Maarten Kooyman, Brendan J Kenna, et al.Pageof 5