Jack W. Miller
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 10 publications
Striking phenotypic variation in a family with the P506S UBQLN2 mutation including amyotrophic lateral sclerosis, spastic paraplegia, and frontotemporal dementia.
Journal: Neurobiology of aging
Published: February 08, 2018
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis.
Journal: Nature genetics
Published: February 25, 2016
Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.
Journal: Science translational medicine
Published: November 26, 2015
The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients.
Journal: Neurobiology of aging
Published: June 30, 2015
De novo point mutations in patients diagnosed with ataxic cerebral palsy.
Journal: Brain : a journal of neurology
Published: November 17, 2014
Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS.
Journal: Neuron
Published: September 16, 2014
Screening for OPTN mutations in a cohort of British amyotrophic lateral sclerosis patients.
Journal: Neurobiology of aging
Published: June 08, 2012
Mutation analysis of VCP in British familial and sporadic amyotrophic lateral sclerosis patients.
Journal: Neurobiology of aging
Published: May 25, 2012
Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.
Journal: Neurobiology of aging
Published: May 19, 2012
Showing 1-10 of 10
Last Updated: 09/26/2026