Search Results - "Armirola-Ricaurte C"

Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.

Authors: Armirola-Ricaurte C Morant L Adant I et al.

Source: Brain : a journal of neurology [Brain] 2026 Jan 08; Vol. 149 (1), pp. 178-193.

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

Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy.

Authors: Dominik N Efthymiou S Record CJ et al.

Source: The Journal of clinical investigation [J Clin Invest] 2025 Oct 14; Vol. 135 (23). Date of Electronic Publication: 2025 Oct 14 (Print Publication: 2025).

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

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

Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.

Authors: Armirola-Ricaurte C Morant L Adant I et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Jul 04. Date of Electronic Publication: 2024 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

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

Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.

Authors: Sanchis-Juan A Megy K Stephens J et al.

Corporate Authors: Sanchis-Juan A Megy K Stephens J et al.

Source: American journal of human genetics [Am J Hum Genet] 2023 Aug 03; Vol. 110 (8), pp. 1343-1355.

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

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE