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Correction to: A case of childhood‑onset dystonia‑parkinsonism due to homozygous parkin mutations and effect of globus pallidus deep brain stimulation.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
A case of childhood-onset dystonia-parkinsonism due to homozygous parkin mutations and effect of globus pallidus deep brain stimulation.
- Published in:
- Neurological Sciences, 2023, v. 44, n. 9, p. 3323, doi. 10.1007/s10072-023-06832-7
- By:
- Publication type:
- Article
Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca<sup>2+</sup> accumulation in spinobulbar muscular atrophy skeletal muscle.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-36185-w
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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
Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations.
- Published in:
- 2012
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- 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
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- Publication type:
- Article
Distal hereditary motor neuropathy caused by coenzyme Q deficiency due to COQ7 variants.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 10, p. 3958, doi. 10.1093/brain/awad302
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- Publication type:
- Article
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism.
- Published in:
- 2016
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- Publication type:
- Letter
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
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness.
- Published in:
- 2011
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- Publication type:
- journal 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
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- 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
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- 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
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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
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- Publication type:
- Article
ZFHX4 truncating variant and orofacial clefting.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 115, doi. 10.1002/ajmg.a.63353
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- Publication type:
- Article
Long‐term follow‐up of a patient with neonatal form of Gaucher disease.
- Published in:
- American Journal of Medical Genetics. Part A, 2023, v. 191, n. 7, p. 1917, doi. 10.1002/ajmg.a.63196
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- Publication type:
- Article
Craniosynostosis is a feature of CHD7‐related CHARGE syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 7, p. 2160, doi. 10.1002/ajmg.a.62208
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- Publication type:
- Article
FBXO28 is a critical gene of the 1q41q42 microdeletion syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 6, p. 1418, doi. 10.1002/ajmg.a.37033
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- Publication type:
- Article
Transcriptional programming of lipid and amino acid metabolism by the skeletal muscle circadian clock.
- Published in:
- PLoS Biology, 2018, v. 16, n. 8, p. 1, doi. 10.1371/journal.pbio.2005886
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- Publication type:
- Article
Cyclic AMP induces reversible EPAC1 condensates that regulate histone transcription.
- Published in:
- Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-41088-x
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- Publication type:
- Article
Treatment of CoQ<sub>10</sub> Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects.
- Published in:
- PLoS ONE, 2010, v. 5, n. 7, p. 1
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- Publication type:
- Article
Motor axonal neuropathy associated with GNE mutations.
- Published in:
- Muscle & Nerve, 2021, v. 63, n. 3, p. 396, doi. 10.1002/mus.27102
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- Publication type:
- Article
Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease.
- Published in:
- Journal of Neurology, 2010, v. 257, n. 10, p. 1730, doi. 10.1007/s00415-010-5618-0
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- Publication type:
- Article
Hepatocerebral mitochondrial DNA depletion syndrome: clinical and morphologic features of a nuclear gene mutation.
- Published in:
- 2004
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- Publication type:
- journal article
Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire.
- Published in:
- Human Genetics, 2015, v. 134, n. 6, p. 613, doi. 10.1007/s00439-015-1542-9
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- Publication type:
- Article
Whole exome sequencing in dominant cataract identifies a new causative factor, CRYBA2, and a variety of novel alleles in known genes.
- Published in:
- Human Genetics, 2013, v. 132, n. 7, p. 761, doi. 10.1007/s00439-013-1289-0
- By:
- Publication type:
- Article
Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Compaction Myocardium in a Pompe Disease Patient.
- Published in:
- 2023
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- Publication type:
- Case Study
Correlation between α1-Antitrypsin Deficiency and SARS-CoV-2 Infection: Epidemiological Data and Pathogenetic Hypotheses.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 19, p. 4493, doi. 10.3390/jcm10194493
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- Publication type:
- Article
Pseudodominant inheritance of retinitis pigmentosa in a family with mutations in the Eyes Shut Homolog (EYS) gene.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-69640-9
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- Publication type:
- Article
Newborn Screening for Fabry Disease in Northeastern Italy: Results of Five Years of Experience.
- Published in:
- Biomolecules (2218-273X), 2021, v. 11, n. 7, p. 951, doi. 10.3390/biom11070951
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- Publication type:
- Article
DRP1-mediated mitochondrial shape controls calcium homeostasis and muscle mass.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10226-9
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- 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
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- 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
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- Publication type:
- Article
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 6, p. 753, doi. 10.1038/ejhg.2014.165
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- Publication type:
- Article
Abnormal activation of MAPKs pathways and inhibition of autophagy in a group of patients with Zellweger spectrum disorders and X-linked adrenoleukodystrophy.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02940-x
- By:
- Publication type:
- Article
Diencephalic syndrome and disseminated juvenile pilocytic astrocytomas of the hypothalamic-optic chiasm region.
- Published in:
- 1997
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- Publication type:
- journal article
Impaired copper and iron metabolism in blood cells and muscles of patients affected by copper deficiency myeloneuropathy.
- Published in:
- Neuropathology & Applied Neurobiology, 2014, v. 40, n. 7, p. 888, doi. 10.1111/nan.12111
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- Publication type:
- Article
Complexity of the 5′UTR region of the CLCN5 gene: eleven 5′UTR ends are differentially expressed in the human kidney.
- Published in:
- BMC Medical Genomics, 2014, v. 7, n. 1, p. 41, doi. 10.1186/1755-8794-7-41
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- Publication type:
- Article
Analysis and pharmacological modulation of senescence in human epithelial stem cells.
- Published in:
- Journal of Cellular & Molecular Medicine, 2022, v. 26, n. 14, p. 3977, doi. 10.1111/jcmm.17434
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- Publication type:
- Article
Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 282, doi. 10.1093/brain/aws293
- By:
- Publication type:
- Article
The displacement of frataxin from the mitochondrial cristae correlates with abnormal respiratory supercomplexes formation and bioenergetic defects in cells of Friedreich ataxia patients.
- Published in:
- FASEB Journal, 2021, v. 35, n. 3, p. 1, doi. 10.1096/fj.202000524RR
- By:
- Publication type:
- Article
S. cerevisiae coq5 mutants require stabilization of the CoQ‐synthome for rescue by COQ5 homologues (605.13).
- Published in:
- FASEB Journal, 2014, v. 28, p. N.PAG, doi. 10.1096/fasebj.28.1_supplement.605.13
- By:
- Publication type:
- Article
Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ<sub>10</sub> deficiency.
- Published in:
- FASEB Journal, 2010, v. 24, n. 10, p. 3733, doi. 10.1096/fj.09-152728
- By:
- Publication type:
- Article
The pyruvate kinase activator mitapivat reduces hemolysis and improves anemia in a β-thalassemia mouse model.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Polymorphisms of the SCN1A gene in children and adolescents with primary headache and idiopathic or cryptogenic epilepsy: is there a linkage?
- Published in:
- Journal of Headache & Pain, 2011, v. 12, n. 4, p. 435, doi. 10.1007/s10194-011-0359-8
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- Publication type:
- Article
Comorbidity between headache and epilepsy in a pediatric headache center.
- Published in:
- Journal of Headache & Pain, 2010, v. 11, n. 3, p. 235, doi. 10.1007/s10194-010-0191-6
- By:
- Publication type:
- Article
A novel KRT1 c.1433A>G p.(Glu478Gly) mutation in a newborn with epidermolytic ichthyosis.
- Published in:
- Clinical Case Reports, 2020, v. 8, n. 12, p. 3079, doi. 10.1002/ccr3.3341
- By:
- Publication type:
- Article
The chaperone co-inducer BGP-15 alleviates ventilation-induced diaphragm dysfunction.
- Published in:
- Science Translational Medicine, 2016, v. 8, n. 350, p. 1, doi. 10.1126/scitranslmed.aaf7099
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- 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
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- Publication type:
- Article
Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 5, p. 604, doi. 10.1111/cge.14396
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- Publication type:
- Article