Jack W Miller
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Explore the profile of Jack W Miller including associated specialties, affiliations and a list of published articles.
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11
Citations
839
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Recent Articles
1.
Gkazi S, Troakes C, Topp S, Miller J, Vance C, Sreedharan J, et al.
Neurobiol Aging
. 2018 Oct;
73:229.e5-229.e9.
PMID: 30348461
Analysis of 226 exome-sequenced UK cases of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia identified 2 individuals who harbored a P497H and P506S UBQLN2 mutation, respectively (n = 0.9%)....
2.
Smith B, Topp S, Fallini C, Shibata H, Chen H, Troakes C, et al.
Sci Transl Med
. 2017 May;
9(388).
PMID: 28469040
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. We screened 751 familial ALS patient whole-exome sequences and identified six mutations including p.D40G in the gene in 13 individuals. The...
3.
Kenna K, van Doormaal P, Dekker A, Ticozzi N, Kenna B, Diekstra F, et al.
Nat Genet
. 2016 Jul;
48(9):1037-42.
PMID: 27455347
To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a new screening strategy, we...
4.
The CHCHD10 P34S variant is not associated with ALS in a UK cohort of familial and sporadic patients
Wong C, Topp S, Gkazi A, Troakes C, Miller J, de Majo M, et al.
Neurobiol Aging
. 2015 Sep;
36(10):2908.e17-8.
PMID: 26344877
Mutations in CHCHD10 have recently been reported as a cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. To address the genetic contribution of CHCHD10 to ALS, we have screened...
5.
Parolin Schnekenberg R, Perkins E, Miller J, Davies W, DAdamo M, Pessia M, et al.
Brain
. 2015 May;
138(Pt 7):1817-32.
PMID: 25981959
Cerebral palsy is a sporadic disorder with multiple likely aetiologies, but frequently considered to be caused by birth asphyxia. Genetic investigations are rarely performed in patients with cerebral palsy and...
6.
Smith B, Ticozzi N, Fallini C, Gkazi A, Topp S, Kenna K, et al.
Neuron
. 2014 Nov;
84(2):324-31.
PMID: 25374358
Exome sequencing is an effective strategy for identifying human disease genes. However, this methodology is difficult in late-onset diseases where limited availability of DNA from informative family members prohibits comprehensive...
7.
Lee Y, Chen H, Peres J, Gomez-Deza J, Attig J, Stalekar M, et al.
Cell Rep
. 2013 Dec;
5(5):1178-86.
PMID: 24290757
The GGGGCC (G4C2) intronic repeat expansion within C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Intranuclear neuronal RNA foci have been observed...
8.
Ahmeti K, Ajroud-Driss S, Al-Chalabi A, Andersen P, Armstrong J, Birve A, et al.
Neurobiol Aging
. 2012 Sep;
34(1):357.e7-19.
PMID: 22959728
Amyotrophic lateral sclerosis (ALS) is the third most common adult-onset neurodegenerative disease. Individuals with ALS rapidly progress to paralysis and die from respiratory failure within 3 to 5 years after...
9.
Johnson L, Miller J, Gkazi A, Vance C, Topp S, Newhouse S, et al.
Neurobiol Aging
. 2012 Aug;
33(12):2948.e15-7.
PMID: 22892313
Variants within the optineurin gene (OPTN) are recognized as causative mutations for primary open angle glaucoma. However, 4 different nonsynonymous and 3 different exonic deletion OPTN mutations have recently been...
10.
Miller J, Smith B, Topp S, Al-Chalabi A, Shaw C, Vance C
Neurobiol Aging
. 2012 Jul;
33(11):2721.e1-2.
PMID: 22789697
Mutations in the valosin-containing-protein (VCP) gene are associated with the multidisorder disease, inclusion body myopathy with Pagets and associated frontotemporal dementia. This disease is characterized pathologically by large ubiquitinated, TAR...