Found: 30
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Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.
- Published in:
- 2017
- By:
- Publication type:
- journal article
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
- Published in:
- 2016
- By:
- Publication type:
- journal article
'Behr syndrome' with OPA1 compound heterozygote mutations.
- Published in:
- 2015
- By:
- Publication type:
- Letter
‘Behr syndrome’ with OPA1 compound heterozygote mutations.
- Published in:
- 2015
- By:
- Publication type:
- Letter to the Editor
Case report: A safeguard in the sea of variants of uncertain significance: a case study on child with high risk neuroblastoma and acute myeloid leukemia.
- Published in:
- Frontiers in Oncology, 2024, p. 1, doi. 10.3389/fonc.2023.1324013
- By:
- Publication type:
- Article
Cellular and functional analysis of four mutations located in the mitochondrial ATPase6 gene.
- Published in:
- Journal of Cellular Biochemistry, 2009, v. 106, n. 5, p. 878, doi. 10.1002/jcb.22055
- By:
- Publication type:
- Article
MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.
- Published in:
- 2013
- By:
- Publication type:
- Journal Article
MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 3, p. 872, doi. 10.1093/brain/awt012
- By:
- Publication type:
- Article
Enhancement of mitochondrial ATP production by the Escherichia coli cytotoxic necrotizing factor 1.
- Published in:
- FEBS Journal, 2014, v. 281, n. 15, p. 3473, doi. 10.1111/febs.12874
- By:
- Publication type:
- Article
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcome.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 3, p. 819, doi. 10.1002/acn3.51980
- By:
- Publication type:
- Article
Toxicological assessment of CeO<sub>2</sub> nanoparticles on early development of zebrafish.
- Published in:
- Toxicology Research, 2021, v. 10, n. 3, p. 570, doi. 10.1093/toxres/tfab028
- By:
- Publication type:
- Article
A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.
- Published in:
- Clinical Genetics, 2022, v. 102, n. 1, p. 56, doi. 10.1111/cge.14127
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- Publication type:
- Article
Novel mutations in IBA57 are associated with leukodystrophy and variable clinical phenotypes.
- Published in:
- Journal of Neurology, 2017, v. 264, n. 1, p. 102, doi. 10.1007/s00415-016-8312-z
- By:
- Publication type:
- Article
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
- Published in:
- Journal of Inherited Metabolic Disease, 2013, v. 36, n. 1, p. 43, doi. 10.1007/s10545-012-9487-9
- By:
- Publication type:
- Article
Hyperactive HRAS dysregulates energetic metabolism in fibroblasts from patients with Costello syndrome via enhanced production of reactive oxidizing species.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 4, p. 561, doi. 10.1093/hmg/ddab270
- By:
- Publication type:
- Article
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe–4S] proteins.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 20, p. 3650, doi. 10.1093/hmg/ddy273
- By:
- Publication type:
- Article
ISCA1 mutation in a patient with infantile-onset leukodystrophy causes defects in mitochondrial [4Fe–4S] proteins.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 15, p. 2739, doi. 10.1093/hmg/ddy183
- By:
- Publication type:
- Article
Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 11, p. 1892, doi. 10.1093/hmg/ddy096
- By:
- Publication type:
- Article
Deep sequencing unearths Nuclear mitochondrial Sequences under Leber's hereditary optic neuropathy-associated false heteroplasmic mitochondrial DNA variants.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 17, p. 3753, doi. 10.1093/hmg/dds182
- By:
- Publication type:
- Article
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.
- Published in:
- Human Mutation, 2021, v. 42, n. 6, p. 699, doi. 10.1002/humu.24195
- By:
- Publication type:
- Article
Clinical‐genetic features and peculiar muscle histopathology in infantile DNM1L‐related mitochondrial epileptic encephalopathy.
- Published in:
- Human Mutation, 2019, v. 40, n. 5, p. 601, doi. 10.1002/humu.23729
- By:
- Publication type:
- Article
Mitochondrial Dynamics: Molecular Mechanisms, Related Primary Mitochondrial Disorders and Therapeutic Approaches.
- Published in:
- Genes, 2021, v. 12, n. 2, p. 247, doi. 10.3390/genes12020247
- By:
- Publication type:
- Article
Cardiolipin content in mitochondria from cultured skin fibroblasts harboring mutations in the mitochondrial ATP6 gene.
- Published in:
- Journal of Bioenergetics & Biomembranes, 2011, v. 43, n. 6, p. 683, doi. 10.1007/s10863-011-9387-y
- By:
- Publication type:
- Article
Maternally-inherited Leigh syndrome-related mutations bolster mitochondrial-mediated apoptosis.
- Published in:
- Journal of Neurochemistry, 2004, v. 90, n. 2, p. 490, doi. 10.1111/j.1471-4159.2004.02505.x
- By:
- Publication type:
- Article
De Novo DNM1L Mutation in a Patient with Encephalopathy, Cardiomyopathy and Fatal Non-Epileptic Paroxysmal Refractory Vomiting.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 14, p. 7782, doi. 10.3390/ijms25147782
- By:
- Publication type:
- Article
Novel TTC19 mutation in a family with severe psychiatric manifestations and complex III deficiency.
- Published in:
- Neurogenetics, 2013, v. 14, n. 2, p. 153, doi. 10.1007/s10048-013-0361-1
- By:
- Publication type:
- Article
TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis.
- Published in:
- Neurogenetics, 2012, v. 13, n. 4, p. 375, doi. 10.1007/s10048-012-0343-8
- By:
- Publication type:
- Article
FGF17, a gene involved in cerebellar development, is downregulated in a patient with Dandy-Walker malformation carrying a de novo 8p deletion.
- Published in:
- Neurogenetics, 2011, v. 12, n. 3, p. 241, doi. 10.1007/s10048-011-0283-8
- By:
- Publication type:
- Article
Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1.
- Published in:
- Neurogenetics, 2011, v. 12, n. 1, p. 9, doi. 10.1007/s10048-010-0265-2
- By:
- Publication type:
- Article
Severe mitochondrial encephalomyopathy caused by de novo variants in OPA1 gene.
- Published in:
- Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1437959
- By:
- Publication type:
- Article