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Palatal tremor and facial dyskinesia in a patient with POLG1 mutation.
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- Movement Disorders, 2008, v. 23, n. 11, p. 1624, doi. 10.1002/mds.22178
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- Publication type:
- Article
Cystic Dilation of Virchow-Robin Spaces in the Midbrain.
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- European Neurology, 2002, v. 47, n. 3, p. 186, doi. 10.1159/000047982
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- Publication type:
- Article
Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish.
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- Frontiers in Molecular Neuroscience, 2021, v. 14, p. 1, doi. 10.3389/fnmol.2021.723912
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- Article
Deoxyribonucleoside treatment rescues EtBr‐induced mtDNA depletion in iPSC‐derived neural stem cells with POLG mutations.
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- FASEB Journal, 2023, v. 37, n. 9, p. 1, doi. 10.1096/fj.202300650RR
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- Article
OPA1 mutations cause cytochrome c oxidase deficiency due to loss of wild-type mtDNA molecules.
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- Human Molecular Genetics, 2010, v. 19, n. 15, p. 3043, doi. 10.1093/hmg/ddq209
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- Article
Defective mitochondrial DNA homeostasis in the substantia nigra in Parkinson disease.
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- Nature Communications, 2016, v. 7, n. 11, p. 13548, doi. 10.1038/ncomms13548
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- Article
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
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- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00900-3
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- Article
Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
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- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00900-3
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- Article
A recessive ataxia diagnosis algorithm for the next generation sequencing era.
- Published in:
- 2017
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- Publication type:
- journal article
Molecular pathogenesis of polymerase γ-related neurodegeneration.
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- 2014
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- Publication type:
- journal article
Molecular pathogenesis of polymerase gamma-related neurodegeneration.
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- Annals of Neurology, 2014, v. 76, n. 1, p. 66, doi. 10.1002/ana.24185
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- Publication type:
- Article
Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5870, doi. 10.3390/ijms22115870
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- Article
Understanding the Epilepsy in POLG Related Disease.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 9, p. 1845, doi. 10.3390/ijms18091845
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- Article
The impact of gender, puberty, and pregnancy in patients with POLG disease.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 10, p. 2019, doi. 10.1002/acn3.51199
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- Publication type:
- Article
Using urine to diagnose large‐scale mtDNA deletions in adult patients.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 8, p. 1318, doi. 10.1002/acn3.51119
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- Publication type:
- Article
Global FKRP Registry: observations in more than 300 patients with Limb Girdle Muscular Dystrophy R9.
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- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 5, p. 757, doi. 10.1002/acn3.51042
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- Publication type:
- Article
PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients .
- Published in:
- Frontiers in Pharmacology, 2023, p. 1, doi. 10.3389/fphar.2023.1220620
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- Article
Disease‐specific phenotypes in iPSC‐derived neural stem cells with POLG mutations.
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- EMBO Molecular Medicine, 2020, v. 12, n. 10, p. 1, doi. 10.15252/emmm.202012146
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- Publication type:
- Article
An evaluation of the genetic-matched pair study design using genome-wide SNP data from the European population.
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- European Journal of Human Genetics, 2009, v. 17, n. 7, p. 967, doi. 10.1038/ejhg.2008.266
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- Publication type:
- Article
Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.
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- European Journal of Human Genetics, 2007, v. 15, n. 7, p. 779, doi. 10.1038/sj.ejhg.5201831
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- Publication type:
- Article
A novel point mutation in the mitochondrial tRNA<sup>Trp</sup> gene produces a neurogastrointestinal syndrome.
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- European Journal of Human Genetics, 2004, v. 12, n. 6, p. 509, doi. 10.1038/sj.ejhg.5201185
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- Publication type:
- Article
A common disease haplotype segregating in spinocerebellar ataxia 2 (SCA2) pedigrees of diverse ethnic origin.
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- European Journal of Human Genetics, 1999, v. 7, n. 7, p. 841, doi. 10.1038/sj.ejhg.5200372
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- Publication type:
- Article
Duplications of mitochondrial DNA in Kearns-Sayre syndrome.
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- Muscle & Nerve, 1995, v. 18, n. S14, p. S154, doi. 10.1002/mus.880181430
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- Publication type:
- Article
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.
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- Nature Genetics, 2009, v. 41, n. 1, p. 95, doi. 10.1038/ng.270
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- Publication type:
- Article
Defective i<sup>6</sup>A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and Its Substrate tRNA.
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- PLoS Genetics, 2014, v. 10, n. 6, p. 1, doi. 10.1371/journal.pgen.1004424
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- Publication type:
- Article
Patient-specific neural progenitor cells derived from induced pluripotent stem cells offer a promise of good models for mitochondrial disease.
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- Cell & Tissue Research, 2020, v. 380, n. 1, p. 15, doi. 10.1007/s00441-019-03164-x
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- Article
Myoclonus-dystonia and epilepsy in a family with a novel epsilon-sarcoglycan mutation.
- Published in:
- Journal of Neurology, 2014, v. 261, n. 2, p. 358, doi. 10.1007/s00415-013-7203-9
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- Publication type:
- Article
Epidemiology and natural history of POLG disease in Norway: a nationwide cohort study.
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- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 7, p. 1819, doi. 10.1002/acn3.52088
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- Publication type:
- Article
Spastic Paraplegia Type 7 Is Associated with Multiple Mitochondrial DNA Deletions.
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- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0086340
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- Article
Novel <i>SACS</i> Mutations Identified by Whole Exome Sequencing in a Norwegian Family with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay.
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- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0066145
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- Article
Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease.
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- Nature Genetics, 2001, v. 28, n. 4, p. 350, doi. 10.1038/ng571
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- Article
Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrophy, and deafness.
- Published in:
- 1994
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- Publication type:
- journal article
In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration.
- Published in:
- Human Genetics, 2021, v. 140, n. 11, p. 1593, doi. 10.1007/s00439-021-02279-y
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- Publication type:
- Article
A multicenter study on Leigh syndrome: disease course and predictors of survival.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 3, doi. 10.1186/1750-1172-9-52
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- Publication type:
- Article
A multicenter study on Leigh syndrome: disease course and predictors of survival.
- Published in:
- 2014
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- Publication type:
- journal article
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-1
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- Publication type:
- Article
MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing.
- Published in:
- 2013
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- Publication type:
- journal article
Metabolic reprogramming of normal oral fibroblasts correlated with increased glycolytic metabolism of oral squamous cell carcinoma and precedes their activation into carcinoma associated fibroblasts.
- Published in:
- Cellular & Molecular Life Sciences, 2020, v. 77, n. 6, p. 1115, doi. 10.1007/s00018-019-03209-y
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- Publication type:
- Article
Activation of Neurotoxic Astrocytes Due to Mitochondrial Dysfunction Triggered by POLG Mutation.
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- International Journal of Biological Sciences, 2024, v. 20, n. 9, p. 2860, doi. 10.7150/ijbs.93445
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- Publication type:
- Article
Activation of Neurotoxic Astrocytes Due to Mitochondrial Dysfunction Triggered by POLG Mutation.
- Published in:
- International Journal of Biological Sciences, 2024, v. 20, n. 8, p. 2860, doi. 10.7150/ijbs.93445
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- Publication type:
- Article
The NAD<sup>+</sup> Precursor Nicotinamide Riboside Rescues Mitochondrial Defects and Neuronal Loss in iPSC derived Cortical Organoid of Alpers' Disease.
- Published in:
- International Journal of Biological Sciences, 2024, v. 20, n. 4, p. 1194, doi. 10.7150/ijbs.91624
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- Publication type:
- Article
Progressive striatal necrosis associated with anti-NMDA receptor antibodies.
- Published in:
- BMC Neurology, 2013, v. 13, n. 1, p. 1, doi. 10.1186/1471-2377-13-55
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- Publication type:
- Article
Progressive striatal necrosis associated with anti-NMDA receptor antibodies.
- Published in:
- 2013
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- Publication type:
- journal article
Diagnostic value of serum biomarkers FGF21 and GDF15 compared to muscle sample in mitochondrial disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 469, doi. 10.1002/jimd.12307
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- Publication type:
- Article
Comment on "A severe linezolid‐induced rhabdomyolysis and lactic acidosis in Leigh syndrome".
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- Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 6, doi. 10.1002/jimd.12329
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- Publication type:
- Article
Safety of drug use in patients with a primary mitochondrial disease: An international Delphi‐based consensus.
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- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 800, doi. 10.1002/jimd.12196
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- Publication type:
- Article
Simplifying the clinical classification of polymerase gamma (POLG) disease based on age of onset; studies using a cohort of 155 cases.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 4, p. 726, doi. 10.1002/jimd.12211
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- Publication type:
- Article
Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease.
- Published in:
- 2018
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- Publication type:
- Erratum
The presence of anaemia negatively influences survival in patients with POLG disease.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 6, p. 861, doi. 10.1007/s10545-017-0084-9
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- Publication type:
- Article
A method for differentiating human induced pluripotent stem cells toward functional cardiomyocytes in 96-well microplates.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-73656-2
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- Publication type:
- Article