Found: 23
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Stormorken Syndrome Caused by a p.R304W STIM1 Mutation: The First Italian Patient and a Review of the Literature.
- Published in:
- Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00859
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- Publication type:
- Article
Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis.
- Published in:
- EMBO Molecular Medicine, 2018, v. 10, n. 11, p. N.PAG, doi. 10.15252/emmm.201708799
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- Publication type:
- Article
MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form.
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- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1320
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- Article
Erratum: Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy.
- Published in:
- 2009
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- Publication type:
- Correction Notice
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy.
- Published in:
- Nature Medicine, 2009, v. 15, n. 2, p. 200, doi. 10.1038/nm.1907
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- Publication type:
- Article
Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts.
- Published in:
- Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0316-5
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- Publication type:
- Article
Mitochondrial Changes in Platelets Are Not Related to Those in Skeletal Muscle during Human Septic Shock.
- Published in:
- PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0096205
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- Publication type:
- Article
Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1.
- Published in:
- Journal of Neuroscience Research, 2018, v. 96, n. 9, p. 1576, doi. 10.1002/jnr.24263
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- Publication type:
- Article
Sporadic late-onset nemaline myopathy in a woman with multiple myeloma successfully treated with lenalidomide/dexamethasone.
- Published in:
- Muscle & Nerve, 2015, v. 51, n. 6, p. 934, doi. 10.1002/mus.24545
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- Publication type:
- Article
Lack of apoptosis in patients with progressive external ophthalmoplegia and mutated adenine nucleotide translocator-1 gene.
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- Muscle & Nerve, 2002, v. 26, n. 2, p. 265, doi. 10.1002/mus.10172
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- Publication type:
- Article
Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation.
- Published in:
- Journal of Neurology, 2001, v. 248, n. 9, p. 778, doi. 10.1007/s004150170094
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- Publication type:
- Article
Metformin overdose causes platelet mitochondrial dysfunction in humans.
- Published in:
- Critical Care, 2012, v. 16, n. 5, p. 11663, doi. 10.1186/cc11663
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- Publication type:
- Article
Metformin overdose causes platelet mitochondrial dysfunction in humans.
- Published in:
- 2012
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- Publication type:
- journal article
Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.
- Published in:
- JAMA Neurology, 2015, v. 72, n. 6, p. 666, doi. 10.1001/jamaneurol.2015.0178
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- Publication type:
- Article
Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 1, p. 57, doi. 10.1093/brain/awt325
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- Publication type:
- Article
A Novel Homozygous VPS11 Variant May Cause Generalized Dystonia.
- Published in:
- Annals of Neurology, 2021, v. 89, n. 4, p. 834, doi. 10.1002/ana.26021
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- Publication type:
- Article
Muscular Dystrophy: Central Nervous System α-Dystroglycan Glycosylation Defects and Brain Malformation.
- Published in:
- Journal of Child Neurology, 2010, v. 25, n. 3, p. 312, doi. 10.1177/0883073809338958
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- 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
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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
Treatment with ROS detoxifying gold quantum clusters alleviates the functional decline in a mouse model of Friedreich ataxia.
- Published in:
- Science Translational Medicine, 2021, v. 13, n. 607, p. 1, doi. 10.1126/scitranslmed.abe1633
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- Publication type:
- Article
Transcriptomic profiling of TK2 deficient human skeletal muscle suggests a role for the p53 signalling pathway and identifies growth and differentiation factor-15 as a potential novel biomarker for mitochondrial myopathies.
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- BMC Genomics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2164-15-91
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- Publication type:
- Article
Anionic phospholipids calcium binding sites in Duchenne and murine X-linked muscular dystrophy.
- Published in:
- 1994
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- Publication type:
- journal article
Lack of anionic phospholipid calcium binding sites in Duchenne muscular dystrophy.
- Published in:
- 1992
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- Publication type:
- journal article