Last Updated: 09/26/2026
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Found 25 publications
Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.
Journal: Nature communications
Published: March 31, 2025
Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disorders.
Journal: Brain : a journal of neurology
Published: November 12, 2024
Mutations in mitochondrial ATAD3 gene and disease, lessons from in vivo models.
Journal: Frontiers in neuroscience
Published: September 13, 2024
EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.
Journal: American journal of human genetics
Published: June 07, 2024
Clinical and genetic investigation of 14 families with various forms of short stature syndromes.
Journal: Clinical genetics
Published: March 14, 2024
Variants in EFCAB7 underlie nonsyndromic postaxial polydactyly.
Journal: European journal of human genetics : EJHG
Published: April 28, 2023
Sequence Variants in the WNT10B Underlying Non-Syndromic Split-Hand/Foot Malformation.
Journal: Molecular syndromology
Published: April 20, 2023
Sequence Variants in MEGF8 and GJA1 Underlying Syndactyly.
Journal: Molecular syndromology
Published: August 03, 2022
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes.
Journal: Journal of medical genetics
Published: January 22, 2021
Metformin delays neurological symptom onset in a mouse model of neuronal complex I deficiency.
Journal: JCI insight
Published: June 09, 2020
Myopathy reversion in mice after restauration of mitochondrial complex I.
Journal: EMBO molecular medicine
Published: March 27, 2019
Last Updated: 09/26/2026