Russell Saneto
Overview
Explore the profile of Russell Saneto including associated specialties, affiliations and a list of published articles.
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12
Citations
511
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Recent Articles
1.
Barca E, Kroopnick A, Houck A, Thakur K, Dugue R, Zolkipli-Cunningham Z, et al.
Neurology
. 2025 Feb;
102(7_supplement_1):6306.
PMID: 39977896
Objective: This analysis of Adult-Onset Leigh Syndrome (LS) patients from the North American Mitochondrial Disease Consortium (NAMDC) Registry aims to enhance clinical insights, improve diagnoses, and uncover potential modifiers. Background:...
2.
Cuccurullo C, Cerulli Irelli E, Ugga L, Riva A, DAmico A, Cabet S, et al.
Epilepsia
. 2024 Jul;
65(9):2728-2750.
PMID: 38953796
Objective: DYNC1H1 variants are involved on a disease spectrum from neuromuscular disorders to neurodevelopmental disorders. DYNC1H1-related epilepsy has been reported in small cohorts. We dissect the electroclinical features of 34...
3.
Karaa A, Bertini E, Carelli V, Cohen B, Enns G, Falk M, et al.
Neurology
. 2023 Jun;
101(3):e238-e252.
PMID: 37268435
Background And Objectives: Primary mitochondrial myopathies (PMMs) encompass a group of genetic disorders that impair mitochondrial oxidative phosphorylation, adversely affecting physical function, exercise capacity, and quality of life (QoL). Current...
4.
Ju Wang J, Chen M, Zhang C, Parker J, Saneto R, Ramirez J
Pediatr Neurol
. 2022 Sep;
136:56-63.
PMID: 36137349
Background: Leigh syndrome (LS) is a progressive neurodegenerative mitochondrial disease characterized by necrotizing lesions affecting different parts of the central nervous system, especially in the brainstem and basal ganglia. Lesions...
5.
Liu H, Forouhar F, Seibt T, Saneto R, Wigby K, Friedman J, et al.
Nat Chem Biol
. 2021 Dec;
18(1):91-100.
PMID: 34931062
Glutathione peroxidase 4 (GPX4), as the only enzyme in mammals capable of reducing esterified phospholipid hydroperoxides within a cellular context, protects cells from ferroptosis. We identified a homozygous point mutation...
6.
Crow Y, Marshall H, Rice G, Seabra L, Jenkinson E, Baranano K, et al.
Am J Med Genet A
. 2020 Oct;
185(1):15-25.
PMID: 33029936
Biallelic mutations in SNORD118, encoding the small nucleolar RNA U8, cause leukoencephalopathy with calcifications and cysts (LCC). Given the difficulty in interpreting the functional consequences of variants in nonprotein encoding...
7.
Neighbors A, Moss T, Holloway L, Yu S, Annese F, Skinner S, et al.
Mol Genet Genomic Med
. 2020 Jan;
8(3):e1121.
PMID: 31903733
Background: The rare, X-linked neurodegenerative disorder, Mohr-Tranebjaerg syndrome (also called deafness-dystonia-optic neuronopathy [DDON] syndrome), is caused by mutations in the TIMM8A gene. DDON syndrome is characterized by dystonia, early-onset deafness,...
8.
Michels S, Foss K, Park K, Golden-Grant K, Saneto R, Lopez J, et al.
Am J Med Genet A
. 2017 Oct;
173(12):3127-3131.
PMID: 29048727
The clinical diagnosis of malformations of cortical development (MCDs) is often challenging due to the complexity of the brain malformation by neuroimaging, the rarity of individual malformation syndromes, and the...
9.
Sulak D, Saneto R, Goldstein B
Epilepsy Behav
. 2017 Mar;
70(Pt B):328-333.
PMID: 28254350
Results: Of 272 combined patients from Washington State and California, 37 (14%) found cannabis ineffective at reducing seizures, 29 (15%) experienced a 1-25% reduction in seizures, 60 (18%) experienced a...
10.
Parikh S, Goldstein A, Koenig M, Scaglia F, Enns G, Saneto R, et al.
Genet Med
. 2014 Dec;
17(9):689-701.
PMID: 25503498
Purpose: The purpose of this statement is to review the literature regarding mitochondrial disease and to provide recommendations for optimal diagnosis and treatment. This statement is intended for physicians who...