Search Results - "Singleton AB"

Progranulin mutations and amyotrophic lateral sclerosis or amyotrophic lateral sclerosis-frontotemporal dementia phenotypes.

Authors: Schymick JC Yang Y Andersen PM et al.

Source: Journal of Neurology, Neurosurgery & Psychiatry. Jul2007, Vol. 78 Issue 7, p754-756. 3p.

TAU TUBULIN KINASE 2, IMPLICATED BY TAU PHOSPHORYLATION, CONTAINS MUTATIONS THAT SEGREGATE WITH SPINOCEREBELLAR ATAXIA TYPE II.

Authors: Houlden, H Johnson, J Gardner-Thorpe, C et al.

Source: Journal of Neurology, Neurosurgery & Psychiatry. Mar2008, Vol. 79 Issue 3, p344-344. 1/5p.

Alzheimer's disease proteome-wide association study implicates adaptive immunity and identifies risk genes LILRB1 and SIRPA.

Authors: Walker KA Blew C Duggan MR et al.

Source: Science translational medicine [Sci Transl Med] 2026 Jul; Vol. 18 (856), pp. eadx4852. Date of Electronic Publication: 2026 Jul 01.

Publication Type: Journal Article

Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE

Genetic variation in antidiabetic drug targets: associations with Parkinson's disease risk and age at onset.

Authors: Vincze K Szwajda A Ploner A et al.

Corporate Authors: Vincze K Szwajda A Ploner A et al.

Source: NPJ Parkinson's disease [NPJ Parkinsons Dis] 2026 May 28; Vol. 12 (1). Date of Electronic Publication: 2026 May 28.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 101675390 Publication Model: Electronic Cited Medium: Print ISSN: 2373-8057 (Print) Linking ISSN: 23738057 NLM ISO Abbreviation: NPJ Parkinsons Dis Subsets: PubMed not MEDLINE

Temporal proteomic and phosphoproteomic dynamics during neuronal differentiation in the reference iPSC line KOLF2.1J.

Authors: Hao Y Li Z Lara E et al.

Source: Science signaling [Sci Signal] 2026 Feb 24; Vol. 19 (926), pp. eadx8680. Date of Electronic Publication: 2026 Feb 24.

Publication Type: Journal Article

Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101465400 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1937-9145 (Electronic) Linking ISSN: 19450877 NLM ISO Abbreviation: Sci Signal Subsets: MEDLINE

Mitochondrial DNA Variation in the Aging Human Cerebral Cortex and Cerebellum.

Authors: Omidsalar AA Tyrpak DR MacKay JA et al.

Corporate Authors: Omidsalar AA Tyrpak DR MacKay JA et al.

Source: Aging cell [Aging Cell] 2026 Jan; Vol. 25 (1), pp. e70340.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101130839 Publication Model: Print Cited Medium: Internet ISSN: 1474-9726 (Electronic) Linking ISSN: 14749718 NLM ISO Abbreviation: Aging Cell Subsets: MEDLINE

LRRK2 in Focus: A Global Browser Linking Genetic Diversity to Functional Effects.

Authors: Grant SM van Midden V Fernandez-Toledo E et al.

Corporate Authors: Grant SM van Midden V Fernandez-Toledo E et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Jul 04. Date of Electronic Publication: 2026 Jul 04.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Long-read sequencing maps transposable element variation and its regulatory and epigenetic effects in the human brain.

Authors: Ayuketah A Meredith M Groza C et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 Jul 03. Date of Electronic Publication: 2026 Jul 03.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Repeat expansions in Parkinson's disease and parkinsonism across ancestries: insights from a global genetic cohort.

Authors: Lange LM Cerquera-Cleves C Tan AH et al.

Corporate Authors: Lange LM Cerquera-Cleves C Tan AH et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Jun 22. Date of Electronic Publication: 2026 Jun 22.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

A new AI assisted approach aligns data standards and accelerates interoperability in biomedical research.

Authors: Long RA Ballard S Shah S et al.

Source: NPJ digital medicine [NPJ Digit Med] 2026 Jun 12. Date of Electronic Publication: 2026 Jun 12.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101731738 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2398-6352 (Electronic) Linking ISSN: 23986352 NLM ISO Abbreviation: NPJ Digit Med

Pathology and Genetics in a Global Cohort of Parkinsonian Disorders.

Authors: Wu LY du Toit T Georgiades T et al.

Corporate Authors: Wu LY du Toit T Georgiades T et al.

Source: JAMA neurology [JAMA Neurol] 2026 Jun 08. Date of Electronic Publication: 2026 Jun 08.

Publication Type: Journal Article

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

PD GENEration: An International Parkinson's Disease Genetic Research Study.

Authors: Ghosh Galvelis K Dilliott AA Dini M et al.

Corporate Authors: Ghosh Galvelis K Dilliott AA Dini M et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 May 22. Date of Electronic Publication: 2026 May 22.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Large-scale genetic characterization of Parkinson's disease in the African and African admixed populations.

Authors: Akçimen F Paquette K Wild Crea P et al.

Source: Brain : a journal of neurology [Brain] 2026 May 05; Vol. 149 (5), pp. 1537-1553.

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

Long-read sequencing identifies FGF14 repeat expansions in Parkinson's disease.

Authors: Akçimen F Daida K Lange LM et al.

Source: Brain : a journal of neurology [Brain] 2026 May 05; Vol. 149 (5), pp. 1514-1521.

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

Parkinson's disease genetics across diverse ancestries: an observational genetic study of causal and risk variants with translational implications.

Authors: Lange LM Fang ZH Makarious MB et al.

Corporate Authors: Lange LM Fang ZH Makarious MB et al.

Source: The Lancet. Neurology [Lancet Neurol] 2026 Aug; Vol. 25 (8), pp. 741-754.

Publication Type: Journal Article; Observational Study

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

Identification of GGC Repeat Expansions in ZFHX3 among Chilean Movement Disorder Patients.

Authors: Saffie-Awad P Moller A Daida K et al.

Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2025 Jul; Vol. 40 (7), pp. 1433-1441. Date of Electronic Publication: 2025 Jun 03.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

Genome-wide association study of copy number variations in Parkinson's disease.

Authors: Landoulsi Z Sreelatha AAK Kuznetsov N et al.

Corporate Authors: Landoulsi Z Sreelatha AAK Kuznetsov N et al.

Source: NPJ Parkinson's disease [NPJ Parkinsons Dis] 2026 Apr 20; Vol. 12 (1). Date of Electronic Publication: 2026 Apr 20.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 101675390 Publication Model: Electronic Cited Medium: Print ISSN: 2373-8057 (Print) Linking ISSN: 23738057 NLM ISO Abbreviation: NPJ Parkinsons Dis Subsets: PubMed not MEDLINE

The Global Parkinson's Disease Genetics (GP2) Genome Browser.

Authors: Fang ZH Grant RH Vitale D et al.

Corporate Authors: Fang ZH Grant RH Vitale D et al.

Source: Movement disorders : official journal of the Movement Disorder Society [Mov Disord] 2026 Apr 19. Date of Electronic Publication: 2026 Apr 19.

Publication Type: Journal Article

Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

Single-nucleus multiome analysis in the human prefrontal cortex identifies gene expression and cis-regulatory elements associated with aging.

Authors: Catching A Weller CA Hu F et al.

Corporate Authors: Catching A Weller CA Hu F et al.

Source: Cell reports [Cell Rep] 2026 Mar 24; Vol. 45 (3), pp. 117110. Date of Electronic Publication: 2026 Mar 14.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep Subsets: MEDLINE

The complete genome of the KOLF2.1J reference iPSC line.

Authors: Jerez PA Rhie A Kim J et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2026 Mar 12. Date of Electronic Publication: 2026 Mar 12.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE