Jack W. Miller

发表

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, Robert H. Brown, F. Baas, 2016, Nature Genetics.

Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic

J. Ule, C. Shaw, C. Troakes, 2013, Cell reports.

Prion-like domain mutations in hnRNPs cause multisystem proteinopathy and ALS

Michael Benatar, Steven A Greenberg, Aaron D Gitler, 2013, Nature.

CCNF mutations in amyotrophic lateral sclerosis and frontotemporal dementia

Robert H. Brown, R. Petersen, B. Boeve, 2016, Nature Communications.

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

C. Shaw, Jack W Miller, S. Topp, 2014, Amyotrophic lateral sclerosis & frontotemporal degeneration.

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

Carl D Langefeld, Aleksey Shatunov, Gabriele Mora, 2013, Neurobiology of Aging.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, Robert H. Brown, F. Baas, 2016, Nature Genetics.

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

Brittany N. Lasseigne, W. Chung, D. Goldstein, 2015, Science.

Mutations in ANXA11 cause familial and sporadic amyotrophic lateral sclerosis

F. Baas, J. Belleroche, A. Al-Chalabi, 2017 .

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

Robert H. Brown, M. Weale, F. Baas, 2017, Science Translational Medicine.

Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Timothy A. Miller, Sonja W. Scholz, Jennifer E. Phillips-Cremins, 2020, Neuron.

Expanded G4C2 repeats linked to C9ORF72 ALS and FTD form length-dependent RNA foci, sequester RNA binding proteins and are neurotoxic

C. Shaw, C. Troakes, C. Vance, 2013, Molecular Neurodegeneration.

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

C. Shaw, Jack W Miller, C. Vance, 2016, Brain : a journal of neurology.

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

Michelle K. Lupton, T. Hortobágyi, Robert H. Brown, 2012, European Journal of Human Genetics.

Prion-like domain mutations in hnRNPs cause multisystem proteinopathy and ALS

Emily A. Scarborough, J. Trojanowski, A. Pestronk, 2013 .

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

Robert H. Brown, F. Baas, A. Al-Chalabi, 2018, Neurobiology of Aging.

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

A. Al-Chalabi, C. Shaw, S. Topp, 2012, Neurobiology of Aging.

Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia

A. Al-Chalabi, C. Shaw, C. Troakes, 2019, Neurobiology of Aging.

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

S. Newhouse, A. Al-Chalabi, C. Shaw, 2012, Neurobiology of Aging.

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

J. Belleroche, A. Al-Chalabi, C. Shaw, 2015, Neurobiology of Aging.

NEK1 variants confer susceptibility to amyotrophic lateral sclerosis

Annelot M. Dekker, F. Baas, T. Meitinger, 2016, Nature Genetics.