Search Results - "Handler HP"

Validation of a comprehensive long-read sequencing platform for broad clinical genetic diagnosis.

Authors: Sen S Handler HP Victorsen A et al.

Source: Frontiers in genetics [Front Genet] 2025 May 02; Vol. 16, pp. 1499456. Date of Electronic Publication: 2025 May 02 (Print Publication: 2025).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101560621 Publication Model: eCollection Cited Medium: Print ISSN: 1664-8021 (Print) Linking ISSN: 16648021 NLM ISO Abbreviation: Front Genet Subsets: PubMed not MEDLINE

Increased intrinsic membrane excitability is associated with olivary hypertrophy in spinocerebellar ataxia type 1.

Authors: Morrison LM Huang H Handler HP et al.

Source: Human molecular genetics [Hum Mol Genet] 2024 Dec 06; Vol. 33 (24), pp. 2159-2176.

Publication Type: Journal Article

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

Mapping SCA1 regional vulnerabilities reveals neural and skeletal muscle contributions to disease.

Authors: Duvick L Southern WM Benzow KA et al.

Source: JCI insight [JCI Insight] 2024 Mar 21; Vol. 9 (9). Date of Electronic Publication: 2024 Mar 21.

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

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

Altered Capicua expression drives regional Purkinje neuron vulnerability through ion channel gene dysregulation in spinocerebellar ataxia type 1.

Authors: Chopra R Bushart DD Cooper JP et al.

Source: Human molecular genetics [Hum Mol Genet] 2020 Nov 25; Vol. 29 (19), pp. 3249-3265.

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

Increased intrinsic membrane excitability is associated with hypertrophic olivary degeneration in spinocerebellar ataxia type 1.

Authors: Morrison LM Huang H Handler HP et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2023 Oct 23. Date of Electronic Publication: 2023 Oct 23.

Publication Type: Preprint; Journal Article

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

Delineating regional vulnerability in the neurodegenerative disease SCA1 using a conditional mutant ATXN1 mouse.

Authors: Duvick L Southern WM Benzow K et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2023 Jun 30. Date of Electronic Publication: 2023 Jun 30.

Publication Type: Preprint; Journal Article

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

Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spinocerebellar ataxia type 1.

Authors: Coffin SL Durham MA Nitschke L et al.

Source: Neuron [Neuron] 2023 Mar 15; Vol. 111 (6), pp. 915.

Publication Type: Published Erratum

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 8809320 Publication Model: Print Cited Medium: Internet ISSN: 1097-4199 (Electronic) Linking ISSN: 08966273 NLM ISO Abbreviation: Neuron Subsets: MEDLINE; PubMed not MEDLINE

BDNF is altered in a brain-region specific manner and rescues deficits in Spinocerebellar Ataxia Type 1.

Authors: Rosa JG Hamel K Soles A et al.

Source: Neurobiology of disease [Neurobiol Dis] 2023 Mar; Vol. 178, pp. 106023. Date of Electronic Publication: 2023 Jan 29.

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

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

Disruption of the ATXN1-CIC complex reveals the role of additional nuclear ATXN1 interactors in spinocerebellar ataxia type 1.

Authors: Coffin SL Durham MA Nitschke L et al.

Source: Neuron [Neuron] 2023 Feb 15; Vol. 111 (4), pp. 481-492.e8. Date of Electronic Publication: 2022 Dec 27.

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

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 8809320 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4199 (Electronic) Linking ISSN: 08966273 NLM ISO Abbreviation: Neuron Subsets: MEDLINE

Decreasing mutant ATXN1 nuclear localization improves a spectrum of SCA1-like phenotypes and brain region transcriptomic profiles.

Authors: Handler HP Duvick L Mitchell JS et al.

Source: Neuron [Neuron] 2023 Feb 15; Vol. 111 (4), pp. 493-507.e6. Date of Electronic Publication: 2022 Dec 27.

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

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 8809320 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4199 (Electronic) Linking ISSN: 08966273 NLM ISO Abbreviation: Neuron Subsets: MEDLINE

Spatial and Temporal Diversity of Astrocyte Phenotypes in Spinocerebellar Ataxia Type 1 Mice.

Authors: Rosa JG Hamel K Sheeler C et al.

Source: Cells [Cells] 2022 Oct 21; Vol. 11 (20). Date of Electronic Publication: 2022 Oct 21.

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

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE

Antisense Oligonucleotide Therapeutic Approach for Suppression of Ataxin-1 Expression: A Safety Assessment.

Authors: O'Callaghan B Hofstra B Handler HP et al.

Source: Molecular therapy. Nucleic acids [Mol Ther Nucleic Acids] 2020 Sep 04; Vol. 21, pp. 1006-1016. Date of Electronic Publication: 2020 Jul 25.

Publication Type: Journal Article

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101581621 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2162-2531 (Print) Linking ISSN: 21622531 NLM ISO Abbreviation: Mol Ther Nucleic Acids Subsets: PubMed not MEDLINE

Antisense oligonucleotide-mediated ataxin-1 reduction prolongs survival in SCA1 mice and reveals disease-associated transcriptome profiles.

Authors: Friedrich J Kordasiewicz HB O'Callaghan B et al.

Source: JCI insight [JCI Insight] 2018 Nov 02; Vol. 3 (21). Date of Electronic Publication: 2018 Nov 02.

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

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: Electronic Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE