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Myoclonus in mitochondrial disorders.
- Published in:
- Movement Disorders, 2014, v. 29, n. 6, p. 722, doi. 10.1002/mds.25839
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- Publication type:
- Article
Low anaerobic threshold and increased skeletal muscle lactate production in subjects with Huntington's disease.
- Published in:
- Movement Disorders, 2011, v. 26, n. 1, p. 130, doi. 10.1002/mds.23258
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- Publication type:
- Article
Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Phospholamban Gene.
- Published in:
- Cells (2073-4409), 2023, v. 12, n. 10, p. 1405, doi. 10.3390/cells12101405
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- Publication type:
- Article
Lafora Disease: A Case Report and Evolving Treatment Advancements.
- Published in:
- Brain Sciences (2076-3425), 2023, v. 13, n. 12, p. 1679, doi. 10.3390/brainsci13121679
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- Publication type:
- Article
Coexistence of VHL Disease and CPT2 Deficiency: A Case Report.
- Published in:
- 2016
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- Publication type:
- Case Study
Nutritional Challenges in Duchenne Muscular Dystrophy.
- Published in:
- Nutrients, 2017, v. 9, n. 6, p. 594, doi. 10.3390/nu9060594
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- Publication type:
- Article
Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis.
- Published in:
- Acta Myologica, 2020, v. 39, n. 2, p. 67, doi. 10.36185-2532-1900-009
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- Publication type:
- Article
Immune-mediated necrotizing myopathy due to statins exposure.
- Published in:
- Acta Myologica, 2018, v. 37, n. 4, p. 257
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- Publication type:
- Article
Nitric oxide deficiency determines global chromatin changes in Duchenne muscular dystrophy.
- Published in:
- FASEB Journal, 2009, v. 23, n. 7, p. 2131, doi. 10.1096/fj.08-115618
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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.
- Published in:
- BMC Genomics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2164-15-91
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- Publication type:
- Article
Facioscapulohumeral muscular dystrophy in mice overexpressing FRG1.
- Published in:
- Nature, 2006, v. 439, n. 7079, p. 973, doi. 10.1038/nature04422
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- Publication type:
- Article
Prominent muscle involvement in a familial form of mitochondrial disease due to a COA8 variant.
- Published in:
- 2023
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- Publication type:
- Case Study
Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 23, p. 6147, doi. 10.1093/hmg/ddu336
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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
The EuroBioBank Network: 10 years of hands-on experience of collaborative, transnational biobanking for rare diseases.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1116, doi. 10.1038/ejhg.2014.272
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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
Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.
- Published in:
- 2018
- By:
- Publication type:
- letter
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
The Profiling of 179 miRNA Expression in Serum from Limb Girdle Muscular Dystrophy Patients and Healthy Controls.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 24, p. 17402, doi. 10.3390/ijms242417402
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- Publication type:
- Article
A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 23, p. 14567, doi. 10.3390/ijms232314567
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- Publication type:
- Article
Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 17, p. 9817, doi. 10.3390/ijms23179817
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- Publication type:
- Article
Muscle Proteomic Profile before and after Enzyme Replacement Therapy in Late-Onset Pompe Disease.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 6, p. 2850, doi. 10.3390/ijms22062850
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- Publication type:
- Article
Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.
- Published in:
- International Journal of Molecular Sciences, 2020, v. 21, n. 7, p. 2635, doi. 10.3390/ijms21072635
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- Publication type:
- Article
Impairments in contractility and cytoskeletal organisation cause nuclear defects in nemaline myopathy.
- Published in:
- Acta Neuropathologica, 2019, v. 138, n. 3, p. 477, doi. 10.1007/s00401-019-02034-8
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- Publication type:
- Article
Genetic defects are common in myopathies with tubular aggregates.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 1, p. 4, doi. 10.1002/acn3.51477
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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
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
The novel mitochondrial tRNA<sup>Asn</sup> gene mutation m.5709T>C produces ophthalmoparesis and respiratory impairment.
- Published in:
- European Journal of Human Genetics, 2012, v. 20, n. 3, p. 357, doi. 10.1038/ejhg.2011.238
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- Publication type:
- Article
Intra-aortic injection of myoblasts in mdx mice: genetic and technetium-99m cell labeling and biodistribution.
- Published in:
- 1997
- By:
- Publication type:
- journal article
In vivo biolistic technique in control and mdx dystrophic mice.
- Published in:
- 1996
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- Publication type:
- journal 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
- By:
- Publication type:
- journal article
Assessing the Role of Anti rh-GAA in Modulating Response to ERT in a Late-Onset Pompe Disease Cohort from the Italian GSDII Study Group.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Progressive cytochrome c oxidase deficiency in a case of earns-sayre syndrome: Morphological, immunological, and biochemical studies in muscle biopsies and autopsy tissues.
- Published in:
- Annals of Neurology, 1987, v. 21, n. 6, p. 564, doi. 10.1002/ana.410210607
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- Publication type:
- Article
Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: Immunological studies in a new patient.
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- Annals of Neurology, 1985, v. 17, n. 4, p. 414, doi. 10.1002/ana.410170422
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- Publication type:
- Article
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.
- Published in:
- Nature Genetics, 2013, v. 45, n. 2, p. 214, doi. 10.1038/ng.2501
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- Publication type:
- Article
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients.
- Published in:
- Genes, 2018, v. 9, n. 11, p. 524, doi. 10.3390/genes9110524
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- Publication type:
- Article
A 5-year clinical follow-up study from the Italian National Registry for FSHD.
- Published in:
- Journal of Neurology, 2021, v. 268, n. 1, p. 356, doi. 10.1007/s00415-020-10144-7
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- Publication type:
- Article
Muscle pain in mitochondrial diseases: a picture from the Italian network.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 4, p. 953, doi. 10.1007/s00415-019-09219-x
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- Publication type:
- Article
A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes.
- Published in:
- Journal of Neurology, 2016, v. 263, n. 6, p. 1204, doi. 10.1007/s00415-016-8123-2
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- Publication type:
- Article
Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion.
- Published in:
- 2015
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- Publication type:
- Erratum
Redefining phenotypes associated with mitochondrial DNA single deletion.
- Published in:
- Journal of Neurology, 2015, v. 262, n. 5, p. 1301, doi. 10.1007/s00415-015-7710-y
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- Publication type:
- Article
The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?
- Published in:
- Journal of Neurology, 2014, v. 261, n. 3, p. 504, doi. 10.1007/s00415-013-7225-3
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- Publication type:
- Article
Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literature.
- Published in:
- Journal of Neurology, 2014, v. 261, n. 1, p. 83, doi. 10.1007/s00415-013-7137-2
- By:
- Publication type:
- Article
Pediatric anti-HMGCR necrotizing myopathy: diagnostic challenges and literature review.
- Published in:
- 2020
- By:
- Publication type:
- letter
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy.
- Published in:
- Acta Neuropathologica Communications, 2022, p. 1, doi. 10.1186/s40478-022-01491-9
- By:
- Publication type:
- Article
Muscle histological changes in a large cohort of patients affected with Becker muscular dystrophy.
- Published in:
- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01354-3
- By:
- Publication type:
- Article
Case Reports: Novel Missense Variants in the Filamin C Actin Binding Domain Cause Variable Phenotypes.
- Published in:
- Frontiers in Neurology, 2022, v. 13, p. 1, doi. 10.3389/fneur.2022.930039
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- Publication type:
- Article
Tyr78Phe Transthyretin Mutation with Predominant Motor Neuropathy as the Initial Presentation.
- Published in:
- Case Reports in Neurology, 2011, v. 3, n. 1, p. 62, doi. 10.1159/000324925
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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