Search filters

List of works by Jack W Miller

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

scientific article published on 25 June 2018

Autosomal dominant inheritance of rapidly progressive amyotrophic lateral sclerosis due to a truncation mutation in the fused in sarcoma (FUS) gene

article

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

scientific article published on 19 February 2015

Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.

scientific article published on 22 October 2014

Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic

scientific article

Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients

article

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS

scientific article

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

scientific article

Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients

scientific article published on 11 August 2012

The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder

scientific article

The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients

scientific article published on 13 July 2015

The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis

scientific article published on March 2016

Paulina is supported by:

About Paulina

Help