Search Results - "Nicholson GA"

Cortical hyperexcitability may precede the onset of familial amyotrophic lateral sclerosis.

Authors: Vucic S Nicholson GA Kiernan MC et al.

Source: Brain: A Journal of Neurology; Jun2008, Vol. 131 Issue 6, p1540-1550, 11p

HEREDITARY SENSORY NEUROPATHY TYPE I: HAPLOTYPE ANALYSIS SHOWS FOUNDERS IN SOUTHERN ENGLAND AND EUROPE.

Authors: Nicholson, GA Dawkins, JL Blair, IP et al.

Source: Journal of the Peripheral Nervous System. Mar2002, Vol. 7 Issue 1, p67-68. 2p.

Hippocampal aggregation signatures of pathogenic UBQLN2 in amyotrophic lateral sclerosis and frontotemporal dementia.

Authors: Thumbadoo KM Dieriks BV Murray HC et al.

Source: Brain : a journal of neurology [Brain] 2024 Oct 03; Vol. 147 (10), pp. 3547-3561.

Publication Type: Journal Article

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

Pseudodominant Inheritance of Biallelic RFC1 Expansions-Revisiting the 3p22-p24 HSN1B Locus.

Authors: Grosz BR Ellis M Trivedi S et al.

Source: Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2025 Dec; Vol. 30 (4), pp. e70070.

Publication Type: Journal Article

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 9704532 Publication Model: Print Cited Medium: Internet ISSN: 1529-8027 (Electronic) Linking ISSN: 10859489 NLM ISO Abbreviation: J Peripher Nerv Syst Subsets: MEDLINE

A meta-analysis of genetic variant pathogenicity and sex differences in UBQLN2-linked amyotrophic lateral sclerosis and frontotemporal dementia.

Authors: Thumbadoo KM Nementzik LR Swanson MEV et al.

Source: Neurobiology of disease [Neurobiol Dis] 2025 Nov; Vol. 216, pp. 107127. Date of Electronic Publication: 2025 Sep 26.

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

Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9500169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-953X (Electronic) Linking ISSN: 09699961 NLM ISO Abbreviation: Neurobiol Dis Subsets: MEDLINE

Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.

Authors: Opie-Martin S Iacoangeli A Topp SD et al.

Source: Nature communications [Nat Commun] 2024 Jul 02; Vol. 15 (1), pp. 5560. Date of Electronic Publication: 2024 Jul 02.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE; PubMed not MEDLINE

Distribution of ubiquilin 2 and TDP-43 aggregates throughout the CNS in UBQLN2 p.T487I-linked amyotrophic lateral sclerosis and frontotemporal dementia.

Authors: Nementzik LR Thumbadoo KM Murray HC et al.

Source: Brain pathology (Zurich, Switzerland) [Brain Pathol] 2024 May; Vol. 34 (3), pp. e13230. Date of Electronic Publication: 2023 Dec 19.

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

Journal Info: Publisher: International Society of Neuropathology Country of Publication: Switzerland NLM ID: 9216781 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1750-3639 (Electronic) Linking ISSN: 10156305 NLM ISO Abbreviation: Brain Pathol Subsets: MEDLINE

Robotic-assisted surgery for left-sided colon and rectal resections is associated with reduction in the postoperative surgical stress response and improved short-term outcomes: a cohort study.

Authors: Ingham AR Kong CY Wong TN et al.

Source: Surgical endoscopy [Surg Endosc] 2024 May; Vol. 38 (5), pp. 2577-2592. Date of Electronic Publication: 2024 Mar 18.

Publication Type: Journal Article

Journal Info: Publisher: Springer Country of Publication: Germany NLM ID: 8806653 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-2218 (Electronic) Linking ISSN: 09302794 NLM ISO Abbreviation: Surg Endosc Subsets: MEDLINE

Treatment with sodium butyrate induces autophagy resulting in therapeutic benefits for spinocerebellar ataxia type 3.

Authors: Watchon M Robinson KJ Luu L et al.

Source: FASEB journal : official publication of the Federation of American Societies for Experimental Biology [FASEB J] 2024 Jan 31; Vol. 38 (2), pp. e23429.

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

Journal Info: Publisher: Federation of American Societies for Experimental Biology Country of Publication: United States NLM ID: 8804484 Publication Model: Print Cited Medium: Internet ISSN: 1530-6860 (Electronic) Linking ISSN: 08926638 NLM ISO Abbreviation: FASEB J Subsets: MEDLINE

Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.

Authors: Cutrupi AN Narayanan RK Perez-Siles G et al.

Source: Brain : a journal of neurology [Brain] 2023 Mar 01; Vol. 146 (3), pp. 880-897.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; 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

The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.

Authors: Opie-Martin S Iacoangeli A Topp SD et al.

Source: Nature communications [Nat Commun] 2022 Nov 12; Vol. 13 (1), pp. 6901. Date of Electronic Publication: 2022 Nov 12.

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

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy.

Authors: Grosz BR Stevanovski I Negri S et al.

Source: Journal of the peripheral nervous system : JPNS [J Peripher Nerv Syst] 2022 Jun; Vol. 27 (2), pp. 120-126. Date of Electronic Publication: 2022 Mar 05.

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

Journal Info: Publisher: Wiley Country of Publication: United States NLM ID: 9704532 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1529-8027 (Electronic) Linking ISSN: 10859489 NLM ISO Abbreviation: J Peripher Nerv Syst Subsets: MEDLINE

Charcot-Marie-tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model.

Authors: Narayanan RK Brewer MH Perez-Siles G et al.

Source: Human molecular genetics [Hum Mol Genet] 2021 Dec 17; Vol. 31 (1), pp. 133-145.

Publication Type: Journal Article; 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 Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.

Authors: Johnson JO Chia R Miller DE et al.

Corporate Authors: Johnson JO Chia R Miller DE et al.

Source: JAMA neurology [JAMA Neurol] 2021 Oct 01; Vol. 78 (10), pp. 1236-1248.

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

Journal Info: Publisher: American Medical Association Country of Publication: United States NLM ID: 101589536 Publication Model: Print Cited Medium: Internet ISSN: 2168-6157 (Electronic) Linking ISSN: 21686149 NLM ISO Abbreviation: JAMA Neurol Subsets: MEDLINE

Sodium valproate increases activity of the sirtuin pathway resulting in beneficial effects for spinocerebellar ataxia-3 in vivo.

Authors: Watchon M Luu L Robinson KJ et al.

Source: Molecular brain [Mol Brain] 2021 Aug 20; Vol. 14 (1), pp. 128. Date of Electronic Publication: 2021 Aug 20.

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

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101468876 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-6606 (Electronic) Linking ISSN: 17566606 NLM ISO Abbreviation: Mol Brain Subsets: MEDLINE

Revisiting the pathogenic mechanism of the GJB1 5' UTR c.-103C > T mutation causing CMTX1.

Authors: Grosz BR Svaren J Perez-Siles G et al.

Source: Neurogenetics [Neurogenetics] 2021 Jul; Vol. 22 (3), pp. 149-160. Date of Electronic Publication: 2021 Jun 05.

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

Journal Info: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE

RFC1 expansions can mimic hereditary sensory neuropathy with cough and Sjögren syndrome.

Authors: Kumar KR Cortese A Tomlinson SE et al.

Source: Brain : a journal of neurology [Brain] 2020 Oct 01; Vol. 143 (10), pp. e82.

Publication Type: Letter; Research Support, Non-U.S. Gov't; Comment

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

Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases.

Authors: Henden L Twine NA Szul P et al.

Source: NPJ genomic medicine [NPJ Genom Med] 2020 Aug 07; Vol. 5, pp. 32. Date of Electronic Publication: 2020 Aug 07 (Print Publication: 2020).

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature in partnership with the Center of Excellence in Genomic Medicine Research at King Abdulaziz University Country of Publication: England NLM ID: 101685193 Publication Model: eCollection Cited Medium: Internet ISSN: 2056-7944 (Electronic) Linking ISSN: 20567944 NLM ISO Abbreviation: NPJ Genom Med Subsets: PubMed not MEDLINE

Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family.

Authors: Tey S Shahrizaila N Drew AP et al.

Source: Neurogenetics [Neurogenetics] 2019 Aug; Vol. 20 (3), pp. 117-127. Date of Electronic Publication: 2019 Apr 22.

Publication Type: Journal Article

Journal Info: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9709714 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1364-6753 (Electronic) Linking ISSN: 13646745 NLM ISO Abbreviation: Neurogenetics Subsets: MEDLINE

The Role of Appendicectomy in Ulcerative Colitis: Systematic Review and Meta-Analysis.

Authors: Welsh S Sam Z Seenan JP et al.

Source: Inflammatory bowel diseases [Inflamm Bowel Dis] 2023 Apr 03; Vol. 29 (4), pp. 633-646.

Publication Type: Meta-Analysis; Systematic Review; Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 9508162 Publication Model: Print Cited Medium: Internet ISSN: 1536-4844 (Electronic) Linking ISSN: 10780998 NLM ISO Abbreviation: Inflamm Bowel Dis Subsets: MEDLINE