Search Results - "Uphill J"

Seven-year discordance in age at onset in monozygotic twins with inherited prion disease (P102L).

Authors: Webb, T. Mead, S. Beck, J. et al.

Source: Neuropathology & Applied Neurobiology. Aug2009, Vol. 35 Issue 4, p427-432. 6p. 1 Color Photograph, 1 Black and White Photograph, 1 Diagram.

Identifying the best PCR enzyme for library amplification in NGS.

Authors: Quail MA Corton C Uphill J et al.

Source: Microbial genomics [Microb Genom] 2024 Apr; Vol. 10 (4).

Publication Type: Journal Article

Journal Info: Publisher: Microbiology Society Country of Publication: England NLM ID: 101671820 Publication Model: Print Cited Medium: Internet ISSN: 2057-5858 (Electronic) Linking ISSN: 20575858 NLM ISO Abbreviation: Microb Genom Subsets: MEDLINE

Variants of PLCXD3 are not associated with variant or sporadic Creutzfeldt-Jakob disease in a large international study.

Authors: Balendra R Uphill J Collinson C et al.

Source: BMC medical genetics [BMC Med Genet] 2016 Apr 07; Vol. 17, pp. 28. Date of Electronic Publication: 2016 Apr 07.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100968552 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2350 (Electronic) Linking ISSN: 14712350 NLM ISO Abbreviation: BMC Med Genet Subsets: MEDLINE

Identification of novel risk loci and causal insights for sporadic Creutzfeldt-Jakob disease: a genome-wide association study.

Authors: Jones E Hummerich H Viré E et al.

Source: The Lancet. Neurology [Lancet Neurol] 2020 Oct; Vol. 19 (10), pp. 840-848. Date of Electronic Publication: 2020 Sep 16.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Lancet Pub. Group Country of Publication: England NLM ID: 101139309 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1474-4465 (Electronic) Linking ISSN: 14744422 NLM ISO Abbreviation: Lancet Neurol Subsets: MEDLINE

Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.

Authors: Mead S Uphill J Beck J et al.

Source: Human molecular genetics [Hum Mol Genet] 2012 Apr 15; Vol. 21 (8), pp. 1897-906. Date of Electronic Publication: 2011 Dec 30.

Publication Type: Journal Article; Meta-Analysis; Research Support, Non-U.S. Gov't

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

A novel exon 2 I27V VCP variant is associated with dissimilar clinical syndromes.

Authors: Rohrer JD Warren JD Reiman D et al.

Source: Journal of neurology [J Neurol] 2011 Aug; Vol. 258 (8), pp. 1494-6. Date of Electronic Publication: 2011 Mar 09.

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

Inherited prion disease with 4-octapeptide repeat insertion: disease requires the interaction of multiple genetic risk factors.

Authors: Kaski DN Pennington C Beck J et al.

Source: Brain : a journal of neurology [Brain] 2011 Jun; Vol. 134 (Pt 6), pp. 1829-38.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Authors: Kunkle BW Grenier-Boley B Sims R et al.

Corporate Authors: Kunkle BW Grenier-Boley B Sims R et al.

Source: Nature genetics [Nat Genet] 2019 Sep; Vol. 51 (9), pp. 1423-1424.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE; PubMed not MEDLINE

HECTD2 is associated with susceptibility to mouse and human prion disease.

Authors: Lloyd SE Maytham EG Pota H et al.

Source: PLoS genetics [PLoS Genet] 2009 Feb; Vol. 5 (2), pp. e1000383. Date of Electronic Publication: 2009 Feb 13.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series.

Authors: Webb TE Poulter M Beck J et al.

Source: Brain : a journal of neurology [Brain] 2008 Oct; Vol. 131 (Pt 10), pp. 2632-46. Date of Electronic Publication: 2008 Aug 30.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Regression of severe retinopathy of prematurity after laser treatment.

Authors: Ells AL Uphill JB Fielden MP

Source: Archives of ophthalmology (Chicago, Ill. : 1960) [Arch Ophthalmol] 2002 Oct; Vol. 120 (10), pp. 1404-5.

Publication Type: Case Reports; Journal Article

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 7706534 Publication Model: Print Cited Medium: Print ISSN: 0003-9950 (Print) Linking ISSN: 00039950 NLM ISO Abbreviation: Arch Ophthalmol Subsets: MEDLINE

Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Authors: Kunkle BW Grenier-Boley B Sims R et al.

Corporate Authors: Kunkle BW Grenier-Boley B Sims R et al.

Source: Nature genetics [Nat Genet] 2019 Mar; Vol. 51 (3), pp. 414-430. Date of Electronic Publication: 2019 Feb 28.

Publication Type: Journal Article; Meta-Analysis; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease.

Authors: Sims R van der Lee SJ Naj AC et al.

Corporate Authors: Sims R van der Lee SJ Naj AC et al.

Source: Nature genetics [Nat Genet] 2017 Sep; Vol. 49 (9), pp. 1373-1384. Date of Electronic Publication: 2017 Jul 17.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Genetic risk factors for the posterior cortical atrophy variant of Alzheimer's disease.

Authors: Schott JM Crutch SJ Carrasquillo MM et al.

Source: Alzheimer's & dementia : the journal of the Alzheimer's Association [Alzheimers Dement] 2016 Aug; Vol. 12 (8), pp. 862-71. Date of Electronic Publication: 2016 Mar 15.

Publication Type: Journal Article; Multicenter Study

Journal Info: Publisher: John Wiley & Sons, Ltd Country of Publication: United States NLM ID: 101231978 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-5279 (Electronic) Linking ISSN: 15525260 NLM ISO Abbreviation: Alzheimers Dement Subsets: MEDLINE

Inherited mtDNA variations are not strong risk factors in human prion disease.

Authors: Hudson G Uphill J Hummerich H et al.

Source: Neurobiology of aging [Neurobiol Aging] 2015 Oct; Vol. 36 (10), pp. 2908.e1-3. Date of Electronic Publication: 2015 Jul 10.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 8100437 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-1497 (Electronic) Linking ISSN: 01974580 NLM ISO Abbreviation: Neurobiol Aging Subsets: MEDLINE

Rare structural genetic variation in human prion diseases.

Authors: Lukic A Uphill J Brown CA et al.

Source: Neurobiology of aging [Neurobiol Aging] 2015 May; Vol. 36 (5), pp. 2004.e1-8. Date of Electronic Publication: 2015 Jan 22.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 8100437 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-1497 (Electronic) Linking ISSN: 01974580 NLM ISO Abbreviation: Neurobiol Aging Subsets: MEDLINE

Genome-wide association study of behavioural and psychiatric features in human prion disease.

Authors: Thompson AG Uphill J Lowe J et al.

Source: Translational psychiatry [Transl Psychiatry] 2015 Apr 21; Vol. 5, pp. e552. Date of Electronic Publication: 2015 Apr 21.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Pub. Group Country of Publication: United States NLM ID: 101562664 Publication Model: Electronic Cited Medium: Internet ISSN: 2158-3188 (Electronic) Linking ISSN: 21583188 NLM ISO Abbreviation: Transl Psychiatry Subsets: MEDLINE

R47H TREM2 variant increases risk of typical early-onset Alzheimer's disease but not of prion or frontotemporal dementia.

Authors: Slattery CF Beck JA Harper L et al.

Source: Alzheimer's & dementia : the journal of the Alzheimer's Association [Alzheimers Dement] 2014 Nov; Vol. 10 (6), pp. 602-608.e4. Date of Electronic Publication: 2014 Aug 23.

Publication Type: Journal Article

Journal Info: Publisher: John Wiley & Sons, Ltd Country of Publication: United States NLM ID: 101231978 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-5279 (Electronic) Linking ISSN: 15525260 NLM ISO Abbreviation: Alzheimers Dement Subsets: MEDLINE

Frontotemporal dementia and its subtypes: a genome-wide association study.

Authors: Ferrari R Hernandez DG Nalls MA et al.

Source: The Lancet. Neurology [Lancet Neurol] 2014 Jul; Vol. 13 (7), pp. 686-99.

Publication Type: Journal Article; Multicenter Study; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

Journal Info: Publisher: Lancet Pub. Group Country of Publication: England NLM ID: 101139309 Publication Model: Print Cited Medium: Internet ISSN: 1474-4465 (Electronic) Linking ISSN: 14744422 NLM ISO Abbreviation: Lancet Neurol Subsets: MEDLINE

Validation of next-generation sequencing technologies in genetic diagnosis of dementia.

Authors: Beck J Pittman A Adamson G et al.

Source: Neurobiology of aging [Neurobiol Aging] 2014 Jan; Vol. 35 (1), pp. 261-5. Date of Electronic Publication: 2013 Aug 31.

Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Validation Study

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 8100437 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1558-1497 (Electronic) Linking ISSN: 01974580 NLM ISO Abbreviation: Neurobiol Aging Subsets: MEDLINE