Search Results - "Armirola-Ricaurte C"

Expanding the Phenotypic Spectrum of NDUFS6-Related Disease: From Neonatal Mitochondrial Encephalopathy to Childhood-Onset Axonal Neuropathy.

Authors: Baris, Savas Ipek, Rojan Baris, Saniye Tugba et al.

Source: International Journal of Molecular Sciences. Feb2026, Vol. 27 Issue 3, p1375. 11p.

Whole-Exome Sequencing Identifies Novel Genetic Variants Associated with Unexplained Neurodevelopmental Disorders in Children.

Authors: Mancuso, Giancarlo Serventi, Laura Cocco, Chiara et al.

Source: International Journal of Molecular Sciences. Jan2026, Vol. 27 Issue 2, p964. 16p.

Comparative effects of standardized Centella asiatica extract (ECa 233) and its active compound mixture on proteomics and mitochondrial function.

Authors: Boondam, Yingrak Pakaprot, Narawut Yang, Meng Chieh et al.

Source: Scientific Reports. 8/11/2025, Vol. 15 Issue 1, p1-16. 16p.

OXA1L deficiency causes mitochondrial myopathy via reactive oxygen species regulated nuclear factor kappa B signalling pathway.

Authors: Zhan, Yongkun Wang, Qian Wang, Ya et al.

Source: Clinical & Translational Medicine. Jun2025, Vol. 15 Issue 6, p1-28. 28p.

Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders.

Authors: Armirola-Ricaurte C Zonnekein N Koutsis G et al.

Source: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jun; Vol. 26 (6), pp. 101117. Date of Electronic Publication: 2024 Mar 06.

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

Journal Info: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

Disruptions in RNA Splicing: A Key Regulator of Cognitive Impairment in Perioperative Neurocognitive Disorders.

Authors: Wang XA Wu QY Shi XY et al.

Source: Neuroscience bulletin [Neurosci Bull] 2026 May 11. Date of Electronic Publication: 2026 May 11.

Publication Type: Journal Article; Review

Journal Info: Publisher: Springer Singapore Country of Publication: Singapore NLM ID: 101256850 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1995-8218 (Electronic) Linking ISSN: 19958218 NLM ISO Abbreviation: Neurosci Bull Subsets: MEDLINE

No Association between the SORD Gene and Amyotrophic Lateral Sclerosis in a Chinese Cohort.

Authors: Yilihamu, Mubalake He, Ji Tang, Lu et al.

Source: Journal of Clinical Medicine. Nov2022, Vol. 11 Issue 22, p6834. 8p.

The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.

Authors: Yanus, Grigoriy A. Suspitsin, Evgeny N. Imyanitov, Evgeny N.

Source: International Journal of Molecular Sciences. Sep2024, Vol. 25 Issue 17, p9335. 32p.

Multi-omics Analysis Implicates Mitochondrial Complex Assembly Protein COX18 in Mitochondrial Signaling and Tumorigenesis across Cancers.

Authors: Goswami D Ghosh S Dutta R et al.

Source: Cell biochemistry and biophysics [Cell Biochem Biophys] 2025 Dec; Vol. 83 (4), pp. 5401-5431. Date of Electronic Publication: 2025 Aug 01.

Publication Type: Journal Article

Journal Info: Publisher: Humana Press Country of Publication: United States NLM ID: 9701934 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1559-0283 (Electronic) Linking ISSN: 10859195 NLM ISO Abbreviation: Cell Biochem Biophys Subsets: MEDLINE

Author Index.

Source: European journal of neurology Jun2023 Supplement 1; Vol. 30.

Journal Info: Publisher: Wiley-Blackwell ISSN: 1351-5101

Diagnostic yield of 1000 trio analyses with exome and genome sequencing in a clinical setting.

Authors: Malmgren H Kvarnung M Gustafsson P et al.

Source: Frontiers in genetics [Front Genet] 2025 Jun 20; Vol. 16, pp. 1580879. Date of Electronic Publication: 2025 Jun 20 (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

Gene therapy prevents onset of mitochondrial cardiomyopathy in neonatal mice with Ndufs6 deficiency.

Authors: Zhang X Huang L Li C et al.

Source: Cell death discovery [Cell Death Discov] 2025 May 22; Vol. 11 (1), pp. 249. Date of Electronic Publication: 2025 May 22.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 101665035 Publication Model: Electronic Cited Medium: Print ISSN: 2058-7716 (Print) Linking ISSN: 20587716 NLM ISO Abbreviation: Cell Death Discov Subsets: PubMed not MEDLINE

HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.

Authors: Malcorps M Amor-Barris S Burnyte B et al.

Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2022 Oct 14; Vol. 17 (1), pp. 374. Date of Electronic Publication: 2022 Oct 14.

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

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

Genetics and Genomics of Pediatric Neurological Disorders: An Overview of Current Insights and Future Directions.

Authors: Trabacca A De Rinaldis M Oliva MC et al.

Source: Genes [Genes (Basel)] 2026 Feb 27; Vol. 17 (3). Date of Electronic Publication: 2026 Feb 27.

Publication Type: Journal Article; Review

Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE

Deficiency of Kdm1a Induces Locomotor Abnormalities and Learning and Memory Deficits in Zebrafish Larvae.

Authors: Zou L Wang J Yao M et al.

Source: Journal of integrative neuroscience [J Integr Neurosci] 2025 Nov 25; Vol. 24 (11), pp. 44394.

Publication Type: Journal Article

Journal Info: Publisher: IMR Press Country of Publication: Singapore NLM ID: 101156357 Publication Model: Print Cited Medium: Internet ISSN: 0219-6352 (Print) Linking ISSN: 02196352 NLM ISO Abbreviation: J Integr Neurosci Subsets: MEDLINE

Increased Diagnostic Yield by Reanalysis of Whole Exome Sequencing Data in Mitochondrial Disease.

Authors: Olimpio C Paramonov I Matalonga L et al.

Source: Journal of neuromuscular diseases [J Neuromuscul Dis] 2024; Vol. 11 (4), pp. 767-775.

Publication Type: Journal Article

Journal Info: Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE