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Correction to: Kearns‑Sayre syndrome: expanding spectrum of a "novel" mitochondrial leukomyeloencephalopathy.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
Kearns-Sayre syndrome: expanding spectrum of a "novel" mitochondrial leukomyeloencephalopathy.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 3, p. 2081, doi. 10.1007/s10072-022-05881-8
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- Publication type:
- Article
Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I.
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- EMBO Molecular Medicine, 2020, v. 12, n. 11, p. 1, doi. 10.15252/emmm.202012619
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- Publication type:
- Article
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.
- Published in:
- 2017
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- Publication type:
- journal article
Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3.
- Published in:
- 2021
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- Publication type:
- journal article
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
- Published in:
- 2016
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- Publication type:
- journal article
AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients.
- Published in:
- Cerebellum, 2023, v. 22, n. 6, p. 1313, doi. 10.1007/s12311-022-01497-y
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- Publication type:
- Article
Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency.
- Published in:
- Nature Genetics, 2010, v. 42, n. 12, p. 1131, doi. 10.1038/ng.706
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- Publication type:
- Article
Leber's Hereditary Optic Neuropathy: A Report on Novel mtDNA Pathogenic Variants.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.657317
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- Publication type:
- Article
Neonatal mitochondrial leukoencephalopathy with brain and spinal involvement and high lactate: expanding the phenotype of ISCA2 gene mutations.
- Published in:
- Metabolic Brain Disease, 2018, v. 33, n. 3, p. 805, doi. 10.1007/s11011-017-0181-3
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- Publication type:
- Article
KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature.
- Published in:
- 2018
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- Publication type:
- journal article
New missense variants of NDUFA11 associated with late-onset myopathy.
- Published in:
- 2019
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- Publication type:
- journal article
Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.
- Published in:
- Frontiers in Genetics, 2014, v. 5, p. 1, doi. 10.3389/fgene.2014.00412
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- Publication type:
- Article
Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.
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- European Journal of Human Genetics, 2013, v. 21, n. 1, p. 34, doi. 10.1038/ejhg.2012.93
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- Publication type:
- Article
A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03212-y
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- Publication type:
- Article
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.
- Published in:
- JAMA Neurology, 2018, v. 75, n. 1, p. 105, doi. 10.1001/jamaneurol.2017.2065
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- Publication type:
- Article
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases.
- Published in:
- 2021
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- Publication type:
- journal article
Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.
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- Brain: A Journal of Neurology, 2009, v. 132, n. 2, p. 426, doi. 10.1093/brain/awn328
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- Publication type:
- Article
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene.
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- Brain: A Journal of Neurology, 2006, v. 129, n. 7, p. 1674, doi. 10.1093/brain/awl088
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- Publication type:
- Article
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
- Published in:
- 2005
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- Publication type:
- journal article
Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-γA.
- Published in:
- Brain: A Journal of Neurology, 2005, v. 128, n. 4, p. 723
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- Publication type:
- Article
Expanding the spectrum of neonatal‐onset AIFM1‐associated disorders.
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- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 10, p. 1844, doi. 10.1002/acn3.51876
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- Publication type:
- Article
A Clinical-Based Diagnostic Approach to Cerebellar Atrophy in Children.
- Published in:
- Applied Sciences (2076-3417), 2021, v. 11, n. 5, p. 2333, doi. 10.3390/app11052333
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- Publication type:
- Article
C10ORF2 mutation associated with progressive external ophthalmoplegia and clinically isolated syndrome.
- Published in:
- Acta Neurologica Belgica, 2017, v. 117, n. 4, p. 947, doi. 10.1007/s13760-017-0793-8
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- Publication type:
- Article
Reply to the letter by Finsterer et al. concerning the paper: 'Affection of immune-cells by a C10orf2 mutation manifesting as mitochondrial myopathy and transient sensory transverse syndrome' by Galassi G. et al.
- Published in:
- Acta Neurologica Belgica, 2017, v. 117, n. 4, p. 971, doi. 10.1007/s13760-017-0822-7
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- Publication type:
- Article
ATPase Domain AFG3L2 Mutations Alter OPA1 Processing and Cause Optic Neuropathy.
- Published in:
- 2020
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- Publication type:
- journal article
Mutations of mitochondrial DNA polymerase γA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
- Published in:
- Annals of Neurology, 2002, v. 52, n. 2, p. 211, doi. 10.1002/ana.10278
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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
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- Publication type:
- Article
Distributed abnormalities of brain white matter architecture in patients with dominant optic atrophy and OPA1 mutations.
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- Journal of Neurology, 2015, v. 262, n. 5, p. 1216, doi. 10.1007/s00415-015-7696-5
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- Publication type:
- Article
A new mutation in GJC2 associated with subclinical leukodystrophy.
- Published in:
- Journal of Neurology, 2014, v. 261, n. 10, p. 1929, doi. 10.1007/s00415-014-7429-1
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- Publication type:
- Article
Adult-onset leukodystrophies from respiratory chain disorders: do they exist?
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- Journal of Neurology, 2013, v. 260, n. 6, p. 1617, doi. 10.1007/s00415-013-6844-z
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- Publication type:
- Article
SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency.
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- Human Molecular Genetics, 2018, v. 27, n. 3, p. 499, doi. 10.1093/hmg/ddx419
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- Publication type:
- Article
Phenylbutyrate Therapy for Pyruvate Dehydrogenase Complex Deficiency and Lactic Acidosis.
- Published in:
- Science Translational Medicine, 2013, v. 5, n. 175, p. 1, doi. 10.1126/scitranslmed.3004986
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- Publication type:
- Article
Epileptic phenotypes in children with early‐onset mitochondrial diseases.
- Published in:
- Acta Neurologica Scandinavica, 2019, v. 140, n. 3, p. 184, doi. 10.1111/ane.13130
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- Publication type:
- Article
Thickness mapping of individual retinal layers and sectors by Spectralis Spectral Domain‐optical Coherence Tomography in Autosomal Dominant Optic Atrophy.
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- Acta Ophthalmologica (1755375X), 2020, v. 98, n. 3, p. e390, doi. 10.1111/aos.14257
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- Publication type:
- Article
Phenotyping mitochondrial DNA‐related diseases in childhood: A cohort study of 150 patients.
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- European Journal of Neurology, 2023, v. 30, n. 7, p. 2079, doi. 10.1111/ene.15814
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- 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
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- Publication type:
- Article
Homozygous mutations in C1QBP as cause of progressive external ophthalmoplegia (PEO) and mitochondrial myopathy with multiple mtDNA deletions.
- Published in:
- Human Mutation, 2020, v. 41, n. 10, p. 1745, doi. 10.1002/humu.24081
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- Publication type:
- Article
VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies.
- Published in:
- Human Mutation, 2014, v. 35, n. 8, p. 983, doi. 10.1002/humu.22590
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- Publication type:
- Article
MTO1 Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast.
- Published in:
- Human Mutation, 2013, v. 34, n. 11, p. 1501, doi. 10.1002/humu.22393
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- Publication type:
- Article
Nanopore long-read next-generation sequencing for detection of mitochondrial DNA large-scale deletions.
- Published in:
- Frontiers in Genetics, 2023, p. 1, doi. 10.3389/fgene.2023.1089956
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- Publication type:
- Article
Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 20, p. 3079, doi. 10.1093/hmg/ddi341
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- Publication type:
- Article
Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 4, p. 399, doi. 10.1093/hmg/ddg038
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- Publication type:
- Article
A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 5, p. 529, doi. 10.1093/hmg/10.5.529
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- Publication type:
- Article
NGS-Based Genetic Analysis in a Cohort of Italian Patients with Suspected Inherited Myopathies and/or HyperCKemia.
- Published in:
- Genes, 2023, v. 14, n. 7, p. 1393, doi. 10.3390/genes14071393
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- Publication type:
- Article
A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS patients.
- Published in:
- 2001
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- Publication type:
- journal article
A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation.
- Published in:
- Turkish Journal of Hematology, 2017, v. 34, n. 4, p. 376, doi. 10.4274/tjh.2017.0231
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- Publication type:
- Article
Evaluation of Mitochondrial Dysfunction and Idebenone Responsiveness in Fibroblasts from Leber's Hereditary Optic Neuropathy (LHON) Subjects.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 16, p. 12580, doi. 10.3390/ijms241612580
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- Publication type:
- Article
A Single Cell Complementation Class is Common to Several Cases of Cytochrome c Oxidase-Defective Leigh's Syndrome.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 2, p. 221, doi. 10.1093/hmg/6.2.221
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- Publication type:
- Article
Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence based on patient's-derived rho° transformants.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 11, p. 2017
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- Publication type:
- Article