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Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations.
- Published in:
- 2012
- By:
- Publication type:
- journal article
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with sco2 mutations.
- Published in:
- Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 21, doi. 10.1186/1750-1172-7-21
- By:
- Publication type:
- Article
The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 5, p. 2517, doi. 10.3390/ijms23052517
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- Publication type:
- Article
Is CFTR 621+3 A>G a cystic fibrosis causing mutation?
- Published in:
- Journal of Human Genetics, 2010, v. 55, n. 1, p. 23, doi. 10.1038/jhg.2009.115
- By:
- Publication type:
- Article
Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency.
- Published in:
- Journal of Human Genetics, 2009, v. 54, n. 7, p. 419, doi. 10.1038/jhg.2009.36
- By:
- Publication type:
- Article
Molecular analysis of two uncharacterized sequence variants of the VHL gene.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 11, p. 964, doi. 10.1007/s10038-006-0054-9
- By:
- Publication type:
- Article
DFNA20/26 and Other ACTG1-Associated Phenotypes: A Case Report and Review of the Literature.
- Published in:
- Audiology Research, 2021, v. 11, n. 4, p. 582, doi. 10.3390/audiolres11040052
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- Publication type:
- Article
Validation of CFTR intronic variants identified during cystic fibrosis population screening by a minigene splicing assay.
- Published in:
- Clinical Chemistry & Laboratory Medicine, 2015, v. 53, n. 11, p. 1719, doi. 10.1515/cclm-2014-1047
- By:
- Publication type:
- Article
Regression of gadolinium-enhanced lesions in patients affected by neurofibromatosis type 1.
- Published in:
- La Radiologia Medica, 2016, v. 121, n. 3, p. 214, doi. 10.1007/s11547-015-0587-0
- By:
- Publication type:
- Article
A Misdiagnosed Familiar Brooke–Spiegler Syndrome: Case Report and Review of the Literature.
- Published in:
- Journal of Clinical Medicine, 2024, v. 13, n. 8, p. 2240, doi. 10.3390/jcm13082240
- By:
- Publication type:
- Article
Choroidal Abnormalities in Pediatric NF1: A Cohort Natural History Study.
- Published in:
- Cancers, 2022, v. 14, n. 6, p. 1423, doi. 10.3390/cancers14061423
- By:
- Publication type:
- Article
Epilepsy in NF1: Epidemiologic, Genetic, and Clinical Features. A Monocentric Retrospective Study in a Cohort of 784 Patients.
- Published in:
- Cancers, 2021, v. 13, n. 24, p. 6336, doi. 10.3390/cancers13246336
- By:
- Publication type:
- Article
Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants.
- Published in:
- Cancers, 2021, v. 13, n. 5, p. 999, doi. 10.3390/cancers13050999
- By:
- Publication type:
- Article
Optic Pathway Glioma in Type 1 Neurofibromatosis: Review of Its Pathogenesis, Diagnostic Assessment, and Treatment Recommendations.
- Published in:
- Cancers, 2019, v. 11, n. 11, p. 1790, doi. 10.3390/cancers11111790
- By:
- Publication type:
- Article
Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of BRCA1/2 Variants of Uncertain Significance.
- Published in:
- Cancers, 2019, v. 11, n. 3, p. 295, doi. 10.3390/cancers11030295
- By:
- Publication type:
- Article
Primary coenzyme Q<sub>10</sub> deficiency presenting as fatal neonatal multiorgan failure.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1254, doi. 10.1038/ejhg.2014.277
- By:
- Publication type:
- Article
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromas.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 8, p. 1068, doi. 10.1038/ejhg.2014.243
- By:
- Publication type:
- Article
Expanding the mutational spectrum of LZTR1 in schwannomatosis.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 7, p. 963, doi. 10.1038/ejhg.2014.220
- By:
- Publication type:
- Article
Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6.
- Published in:
- Oxidative Medicine & Cellular Longevity, 2019, p. 1, doi. 10.1155/2019/3904905
- By:
- Publication type:
- Article
Severe Herpes Simplex Encephalitis: an Unusual Presentation of IPEX.
- Published in:
- 2024
- By:
- Publication type:
- Letter
Genetic bases and clinical manifestations of coenzyme Q (CoQ) deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2015, v. 38, n. 1, p. 145, doi. 10.1007/s10545-014-9749-9
- By:
- Publication type:
- Article
Yeast complementation is sufficiently sensitive to detect the residual activity of ASL alleles associated with mild forms of argininosuccinic aciduria.
- Published in:
- 2012
- By:
- Publication type:
- Letter
The Arg1038Gly missense variant in the NF1 gene causes a mild phenotype without neurofibromas.
- Published in:
- Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 5, p. N.PAG, doi. 10.1002/mgg3.616
- By:
- Publication type:
- Article
The COQ2 genotype predicts the severity of coenzyme Q<sub>10</sub> deficiency.
- Published in:
- Human Molecular Genetics, 2016, v. 25, n. 19, p. 4256, doi. 10.1093/hmg/ddw257
- By:
- Publication type:
- Article
Correlation of peripapillary retinal nerve fibre layer thickness with visual acuity in paediatric patients affected by optic pathway glioma.
- Published in:
- Acta Ophthalmologica (1755375X), 2018, v. 96, n. 8, p. e1004, doi. 10.1111/aos.13803
- By:
- Publication type:
- Article
Clinical syndromes associated with Coenzyme Q<sub>10</sub> deficiency.
- Published in:
- Essays in Biochemistry, 2018, v. 62, n. 3, p. 377, doi. 10.1042/EBC20170107
- By:
- Publication type:
- Article
Two novel compound heterozygous SAG mutations in an Italian patient with Oguchi disease: A genetic and multimodal retinal imaging study.
- Published in:
- European Journal of Ophthalmology, 2022, v. 32, n. 6, p. NP1, doi. 10.1177/11206721211027422
- By:
- Publication type:
- Article
Integrated CGH/WES Analyses Advance Understanding of Aggressive Neuroblastoma Evolution: A Case Study.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Natural history of optic pathway gliomas in a cohort of unselected patients affected by Neurofibromatosis 1.
- Published in:
- Journal of Neuro-Oncology, 2017, v. 134, n. 2, p. 279, doi. 10.1007/s11060-017-2517-6
- By:
- Publication type:
- Article
Mutations in COQ8B (ADCK4) found in patients with steroid‐resistant nephrotic syndrome alter COQ8B function.
- Published in:
- Human Mutation, 2018, v. 39, n. 3, p. 406, doi. 10.1002/humu.23376
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- Publication type:
- Article
Functional Analysis of Missense Mutations of OAT, Causing Gyrate Atrophy of Choroid and Retina.
- Published in:
- Human Mutation, 2013, v. 34, n. 1, p. 229, doi. 10.1002/humu.22233
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- Publication type:
- Article
Argininosuccinate lyase deficiency: mutational spectrum in Italian patients and identification of a novel ASL pseudogene.
- Published in:
- Human Mutation, 2007, v. 28, n. 7, p. 694, doi. 10.1002/humu.20498
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- Publication type:
- Article
Ambra1 deficiency impairs mitophagy in skeletal muscle.
- Published in:
- Journal of Cachexia, Sarcopenia & Muscle, 2022, v. 13, n. 4, p. 2211, doi. 10.1002/jcsm.13010
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- Publication type:
- Article
A functionally dominant mitochondrial DNA mutation.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 12, p. 1814, doi. 10.1093/hmg/ddn073
- By:
- Publication type:
- Article
LETM1, deleted in Wolf–Hirschhorn syndrome is required for normal mitochondrial morphology and cellular viability.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 2, p. 201
- By:
- Publication type:
- Article
Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 9, p. 1091
- By:
- Publication type:
- Article
A novel deletion in the GJA12 gene causes Pelizaeus–Merzbacher-like disease.
- Published in:
- Neurogenetics, 2007, v. 8, n. 1, p. 57, doi. 10.1007/s10048-006-0065-x
- By:
- Publication type:
- Article
Genetics of Coenzyme Q<sub>10</sub> Deficiency.
- Published in:
- Molecular Syndromology, 2014, v. 5, n. 3/4, p. 156, doi. 10.1159/000362826
- By:
- Publication type:
- Article