Found: 56
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Steroid-responsive Hashimoto encephalopathy mimicking Creutzfeldt-Jakob disease.
- Published in:
- Neurological Sciences, 2011, v. 32, n. 4, p. 719, doi. 10.1007/s10072-011-0610-8
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- 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
MERRF Mutation A8344G in a Four-Generation Family without Central Nervous System Involvement: Clinical and Molecular Characterization.
- Published in:
- 2023
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- Publication type:
- Case Study
TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. N.PAG, doi. 10.3389/fgene.2020.00860
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- Publication type:
- Article
Can Intestinal Pseudo-Obstruction Drive Recurrent Stroke-Like Episodes in Late-Onset MELAS Syndrome? A Case Report and Review of the Literature.
- Published in:
- Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00038
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- Publication type:
- Article
Long Survival in Patients With Leigh Syndrome and the m.10191T>C Mutation in MT-ND3: A Case Report and Review of the Literature.
- Published in:
- 2014
- By:
- Publication type:
- Case Study
Reply: DGUOK recessive mutations in patients with CPEO, mitochondrial myopathy, parkinsonism and mtDNA deletions.
- Published in:
- 2018
- By:
- Publication type:
- Letter
Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 6, p. 5551, doi. 10.3390/ijms24065551
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- Publication type:
- Article
Antisense Morpholino-Based In Vitro Correction of a Pseudoexon-Generating Variant in the SGCB Gene.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 17, p. 9817, doi. 10.3390/ijms23179817
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- Publication type:
- Article
MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1320
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- Publication type:
- Article
Traumatic Brain Injury Triggers Neurodegeneration in a Mildly Symptomatic MELAS Patient: Implications on the Detrimental Role of Damaged Mitochondria in Determining Head Trauma Sequalae in the General Population.
- Published in:
- 2023
- By:
- Publication type:
- Case Study
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
Coexistence of VHL Disease and CPT2 Deficiency: A Case Report.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Early Findings in Neonatal Cases of RYR1 –Related Congenital Myopathies.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.664618
- By:
- Publication type:
- Article
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review.
- Published in:
- Skeletal Muscle, 2022, v. 12, n. 1, p. 1, doi. 10.1186/s13395-022-00306-8
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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
Impact of COVID‐19 on the quality of life of patients with neuromuscular disorders in the Lombardy area, Italy.
- Published in:
- Muscle & Nerve, 2021, v. 64, n. 4, p. 474, doi. 10.1002/mus.27378
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- Publication type:
- Article
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Lack of apoptosis in patients with progressive external ophthalmoplegia and mutated adenine nucleotide translocator-1 gene.
- Published in:
- Muscle & Nerve, 2002, v. 26, n. 2, p. 265, doi. 10.1002/mus.10172
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- Publication type:
- Article
Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction.
- Published in:
- 1998
- By:
- Publication type:
- journal article
POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome.
- Published in:
- 2013
- By:
- Publication type:
- Case Study
POLG1 mutations and stroke like episodes: a distinct clinical entity rather than an atypical MELAS syndrome.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G>A mitochondrial DNA mutation: a case report.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Clinical and molecular features of an infant patient affected by Leigh Disease associated to m.14459G > A mitochondrial DNA mutation: a case report.
- Published in:
- 2011
- By:
- Publication type:
- Case Study
Follow-up of a large population of asymptomatic/oligosymptomatic hyperckemic subjects.
- Published in:
- Journal of Neurology, 2006, v. 253, n. 11, p. 1399, doi. 10.1007/s00415-006-0223-y
- By:
- Publication type:
- Article
Familial mtDNA T8993C transition causing both the NARP and the MILS phenotype in the same generation: A morphological, genetic and spectroscopic study.
- Published in:
- Journal of Neurology, 2003, v. 250, n. 12, p. 1498, doi. 10.1007/s00415-003-0246-6
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- Publication type:
- Article
Retrospective study of a large population of patients with asymptomatic or minimally symptomatic raised serum creatine kinase levels.
- Published in:
- Journal of Neurology, 2002, v. 249, n. 3, p. 305, doi. 10.1007/s004150200010
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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
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
Mitochondrial A12308G polymorphism affects clinical features in patients with single mtDNA macrodeletion.
- Published in:
- European Journal of Human Genetics, 2003, v. 11, n. 11, p. 896, doi. 10.1038/sj.ejhg.5201056
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- Publication type:
- Article
Non-alcoholic beriberi, Wernicke encephalopathy and long-term eating disorder: case report and a mini-review.
- Published in:
- Eating & Weight Disorders, 2021, v. 26, n. 2, p. 729, doi. 10.1007/s40519-020-00880-0
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- Publication type:
- 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
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.
- Published in:
- Brain: A Journal of Neurology, 2012, v. 135, n. 11, p. 3404, doi. 10.1093/brain/aws258
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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
Peculiar histological and ultrastructural skeletal muscle alterations in a patient with CMV infection and autoimmune myositis: case evaluation and brief literature review.
- Published in:
- Acta Myologica, 2022, v. 41, n. 1, p. 41, doi. 10.36185/2532-1900-068
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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
New Morphological Approaches to the Study of Mitochondrial Encephalomyopathies.
- Published in:
- Brain Pathology, 1992, v. 2, n. 2, p. 113, doi. 10.1111/j.1750-3639.1992.tb00679.x
- By:
- Publication type:
- Article
Genotype and phenotype characterization in a large dystrophinopathic cohort with extended follow-up.
- Published in:
- Journal of Neurology, 2011, v. 258, n. 9, p. 1610, doi. 10.1007/s00415-011-5979-z
- By:
- Publication type:
- Article
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
- By:
- 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
- By:
- Publication type:
- Article
Schizophreniform Disorder with Cerebrospinal Fluid PCR Positivity for Herpes Simplex Virus Type 1.
- Published in:
- 2003
- By:
- Publication type:
- Case Study
Immunofluorescence signal intensity measurements as a semi-quantitative tool to assess sarcoglycan complex expression in muscle biopsy.
- Published in:
- European Journal of Histochemistry, 2022, v. 66, n. 3, p. 1, doi. 10.4081/ejh.2022.3418
- By:
- 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
- By:
- Publication type:
- Article
Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease.
- Published in:
- 1998
- By:
- Publication type:
- journal article
Association between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy.
- Published in:
- International Journal of Molecular Sciences, 2024, v. 25, n. 12, p. 6547, doi. 10.3390/ijms25126547
- By:
- 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
- By:
- 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
- By:
- 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
- By:
- Publication type:
- Article
A collection of 33 novel human mtDNA homoplasmic variants.
- Published in:
- Human Mutation, 2002, v. 20, n. 5, p. 409, doi. 10.1002/humu.9079
- By:
- Publication type:
- Article