Search Results - "Pyne NK"

Expanding the phenotypic spectrum of DNM1-related disorders: novel GTPase domain variants and their diverse neurological outcomes.

Authors: Liu, Juan Hu, Jihong Duan, Yaqin et al.

Source: Neurological Sciences. Jun2025, Vol. 46 Issue 6, p2809-2817. 9p.

Subjects: Medical sciences, Medical genetics, Genetic variation, Mutant proteins, Life sciences

When RNA goes off script: ensuring transcript fidelity in transgene expression.

Authors: Anderson R Ausler C Jain A

Source: The EMBO journal [EMBO J] 2026 Apr; Vol. 45 (8), pp. 2420-2432. Date of Electronic Publication: 2026 Mar 16.

Publication Type: Journal Article; Review

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 8208664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2075 (Electronic) Linking ISSN: 02614189 NLM ISO Abbreviation: EMBO J Subsets: MEDLINE

DUX4 at 25: how it emerged from "junk DNA" to become the cause of facioscapulohumeral muscular dystrophy.

Authors: Belayew, Alexandra Rosa, Alberto L. Zammit, Peter S.

Source: Skeletal Muscle. 8/25/2025, Vol. 15 Issue 1, p1-23. 23p.

Development of an AAV-RNAi strategy to silence the dominant variant GNAO1 c.607G>A linked to encephalopathy.

Authors: Lunev EA Klementieva NV Vassilieva SG et al.

Source: Gene therapy [Gene Ther] 2025 Jul; Vol. 32 (4), pp. 430-445. Date of Electronic Publication: 2025 Apr 14.

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

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9421525 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5462 (Electronic) Linking ISSN: 09697128 NLM ISO Abbreviation: Gene Ther Subsets: MEDLINE

Recent advances and current status of gene therapy for epilepsy.

Authors: Cai AJ Gao K Zhang F et al.

Source: World journal of pediatrics : WJP [World J Pediatr] 2024 Nov; Vol. 20 (11), pp. 1115-1137. Date of Electronic Publication: 2024 Oct 12.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer International Publ Country of Publication: Switzerland NLM ID: 101278599 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1867-0687 (Electronic) NLM ISO Abbreviation: World J Pediatr Subsets: MEDLINE

From in vivo models to in vitro bioengineered neuromuscular junctions for the study of Charcot-Marie-Tooth disease.

Authors: Scherrer, Camille Loret, Camille Védrenne, Nicolas et al.

Source: Journal of Tissue Engineering. 3/12/2025, Vol. 16, p1-30. 30p.

Junctions in Jeopardy: the neuromuscular junction is a selective pathological target in Charcot-Marie-Tooth disease.

Authors: Snape L Sleigh JN

Source: Mammalian genome : official journal of the International Mammalian Genome Society [Mamm Genome] 2026 May 22; Vol. 37 (1). Date of Electronic Publication: 2026 May 22.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9100916 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1777 (Electronic) Linking ISSN: 09388990 NLM ISO Abbreviation: Mamm Genome Subsets: MEDLINE

Genetically modified animal models of hereditary diseases for testing of gene-directed therapy.

Authors: Polikarpova, Anna V. Egorova, Tatiana V. Bardina, Maryana V.

Source: Research Results in Pharmacology. 2022, Vol. 8 Issue 2, p11-26. 16p.

Meeting report: the 2021 FSHD International Research Congress.

Authors: Jagannathan, Sujatha de Greef, Jessica C. Hayward, Lawrence J. et al.

Source: Skeletal Muscle. 1/17/2022, Vol. 12 Issue 1, p1-10. 10p.

Myostatin inhibitors in sarcopenia treatment: A comprehensive review of mechanisms, efficacy and future directions.

Authors: Samali SA Hosseini SF Mohammadi Y et al.

Source: Molecular biology reports [Mol Biol Rep] 2025 Dec 29; Vol. 53 (1), pp. 224. Date of Electronic Publication: 2025 Dec 29.

Publication Type: Journal Article; Review

Journal Info: Publisher: Reidel Country of Publication: Netherlands NLM ID: 0403234 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-4978 (Electronic) Linking ISSN: 03014851 NLM ISO Abbreviation: Mol Biol Rep Subsets: MEDLINE

Lack of effect from genetic deletion of Hdac6 in a humanized mouse model of CMT2D.

Authors: Tadenev, Abigail L. D. Hatton, Courtney L. Burgess, Robert W.

Source: Journal of the Peripheral Nervous System. Jun2024, Vol. 29 Issue 2, p213-220. 8p.

Charcot–Marie–Tooth neuropathies: Current gene therapy advances and the route toward translation.

Authors: Stavrou, Marina Kagiava, Alexia Sargiannidou, Irene et al.

Source: Journal of the Peripheral Nervous System. Jun2023, Vol. 28 Issue 2, p150-168. 19p.

Recent advances in the treatment of Charcot‐Marie‐Tooth neuropathies.

Authors: Bolino, Alessandra D'Antonio, Maurizio

Source: Journal of the Peripheral Nervous System. Jun2023, Vol. 28 Issue 2, p134-149. 16p.

Facioscapulohumeral muscular dystrophy: genetics, gene activation and downstream signalling with regard to recent therapeutic approaches: an update.

Authors: Schätzl, Teresa Kaiser, Lars Deigner, Hans-Peter

Source: Orphanet Journal of Rare Diseases. 3/12/2021, Vol. 16 Issue 1, p1-26. 26p.

Neuropathy‐associated histidyl‐tRNA synthetase variants attenuate protein synthesis in vitro and disrupt axon outgrowth in developing zebrafish.

Authors: Mullen, Patrick Abbott, Jamie A. Wellman, Theresa et al.

Source: FEBS Journal. Jan2021, Vol. 288 Issue 1, p142-159. 18p.

Transgenic mice expressing tunable levels of DUX4 develop characteristic facioscapulohumeral muscular dystrophy-like pathophysiology ranging in severity.

Authors: Jones, Takako I. Chew, Guo-Liang Barraza-Flores, Pamela et al.

Source: Skeletal Muscle. 4/11/2020, Vol. 10 Issue 1, p1-28. 28p.

Gene therapy for genetic diseases: challenges and future directions.

Authors: Qie B Tuo J Chen F et al.

Source: MedComm [MedComm (2020)] 2025 Feb 13; Vol. 6 (2), pp. e70091. Date of Electronic Publication: 2025 Feb 13 (Print Publication: 2025).

Publication Type: Journal Article; Review

Journal Info: Publisher: John Wiley & Sons, Inc Country of Publication: China NLM ID: 101769925 Publication Model: eCollection Cited Medium: Internet ISSN: 2688-2663 (Electronic) Linking ISSN: 26882663 NLM ISO Abbreviation: MedComm (2020) Subsets: PubMed not MEDLINE

Allele-specific RNA interference prevents neuropathy in Charcot-Marie-Tooth disease type 2D mouse models.

Authors: Morelli KH Griffin LB Pyne NK et al.

Source: The Journal of clinical investigation [J Clin Invest] 2019 Dec 02; Vol. 129 (12), pp. 5568-5583.

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

Journal Info: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 7802877 Publication Model: Print Cited Medium: Internet ISSN: 1558-8238 (Electronic) Linking ISSN: 00219738 NLM ISO Abbreviation: J Clin Invest Subsets: MEDLINE

Dominant NARS1 mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases.

Authors: Beijer D Marte S Li JC et al.

Source: Brain communications [Brain Commun] 2024 Mar 08; Vol. 6 (2), pp. fcae070. Date of Electronic Publication: 2024 Mar 08 (Print Publication: 2024).

Publication Type: Journal Article

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

Clinical trials in Charcot-Marie-Tooth disorders: a retrospective and preclinical assessment.

Authors: Nair MA Niu Z Madigan NN et al.

Source: Frontiers in neurology [Front Neurol] 2023 Sep 22; Vol. 14, pp. 1251885. Date of Electronic Publication: 2023 Sep 22 (Print Publication: 2023).

Publication Type: Journal Article

Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE