Associated Papers
First Case in Lithuania of an Autosomal Recessive Mutation in the DNAJC30 Gene as a Cause of Leber's Hereditary Optic Neuropathy.
Sereikaite L et al.
Genes, 2025
Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes.
Zheng Y et al.
Brain : a Journal of Neurology, 2025
Comprehensive genetic screening of 70 severe adolescent idiopathic scoliosis probands reveals novel pathogenic variants and syndromic associations.
Horbacz M et al.
Frontiers in Medicine, 2025
18-Years of single-centre DNA testing in over 7000 index cases with inherited retinal dystrophies and optic neuropathies.
Kiel C et al.
Scientific Reports, 2024
Autosomal recessive leber hereditary optic neuropathy in a choroideremia carrier. A case report.
Roomets E et al.
European Journal of Ophthalmology, 2024
Co-occurrence of glial fibrillary acidic protein astrocytopathy in a patient with Leber's hereditary optic neuropathy due to DNAJC30 mutations.
Giannoccaro MP et al.
European Journal of Neurology, 2024
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
Optimised, Broad NGS Panel for Inherited Eye Diseases to Diagnose 1000 Patients in Poland.
Matczyńska E et al.
Biomedicines, 2024
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
Blickhäuser B et al.
Brain : a Journal of Neurology, 2024
Electroretinographic oscillatory potentials in Leber hereditary optic neuropathy.
Barboni MTS et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2024
Digenic Inheritance in Rare Disorders and Mitochondrial Disease-Crossing the Frontier to a More Comprehensive Understanding of Etiology.
Neuhofer CM et al.
International Journal of Molecular Sciences, 2024
Nuclear DNA Mutation in KIF5A Causing Autosomal Dominant Phenotypic Leber Hereditary Optic Neuropathy.
Pandya BU et al.
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2024
Leber's hereditary optic neuropathy: Update on the novel genes and therapeutic options.
Hu JL et al.
Journal of the Chinese Medical Association : Jcma, 2024
Effects of idebenone treatment in a patient with DNAJC30-associated Leigh Syndrome.
Dzwilewski K et al.
Neurologia I Neurochirurgia Polska, 2024
DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients.
Skorczyk-Werner A et al.
International Journal of Molecular Sciences, 2023
Autosomal recessive Leber's hereditary optic neuropathy caused by a homozygous variant in DNAJC30 gene.
Mauring L et al.
European Journal of Medical Genetics, 2023
Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm.
Lenaers G et al.
Brain : a Journal of Neurology, 2023
A homozygous nonsense mutation in DNAJC30 causes Leber's hereditary optic neuropathy with Leigh-like phenotypes.
Shen C et al.
Genes & Diseases, 2023
Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.
Nesti C et al.
Journal of Neurology, 2023
Optic Nerve Structural and Functional Changes in LHON-Affected and Asymptomatic Maternal Relatives: Association with H and HV Mitochondrial Haplogroups.
Quigley C et al.
International Journal of Molecular Sciences, 2023
Case report: Mutations in DNAJC30 causing autosomal recessive Leber hereditary optic neuropathy are common amongst Eastern European individuals.
Major TC et al.
Frontiers in Neurology, 2023
Phenotypic Variation of Autosomal Recessive Leber Hereditary Optic Neuropathy (arLHON) in One Family.
Pojda-Wilczek D et al.
Diagnostics (basel, Switzerland), 2022
Expanding the phenotype of DNAJC30-associated Leigh syndrome.
Zawadzka M et al.
Clinical Genetics, 2022
DNAJC30 disease-causing gene variants in a large Central European cohort of patients with suspected Leber's hereditary optic neuropathy and optic atrophy.
Kieninger S et al.
Journal of Medical Genetics, 2022
Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.
Aitkulova A et al.
Biomedical Reports, 2022
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
Stenton SL et al.
Brain : a Journal of Neurology, 2022
Case report: Long-term follow-up of two patients with LHON caused by DNAJC30:c.152G>A pathogenic variant-case series.
Petrovic Pajic S et al.
Frontiers in Neurology, 2022
Mitochondrial Retinopathies.
Zeviani M et al.
International Journal of Molecular Sciences, 2021
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
Stenton SL et al.
The Journal of Clinical Investigation, 2021
A flexible computational pipeline for research analyses of unsolved clinical exome cases.
Lassmann T et al.
Npj Genomic Medicine, 2020
A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73.
Eisenberger T et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
DNAJC30 Mutation in a Patient with Coexisting Leber's Hereditary Optic Neuropathy and Multiple Sclerosis (Harding's Syndrome): A Case Report.
KamaliZonouzi S et al.
Case Reports in Ophthalmology, 0