Found: 35
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Adult-onset nemaline myopathy due to a novel homozygous variant in the TNNT1 gene.
- Published in:
- 2022
- By:
- Publication type:
- Letter
Prevalence of Steinert's Myotonic Dystrophy and Utilization of Healthcare Services: A Population-Based Cross-Sectional Study.
- Published in:
- Healthcare (2227-9032), 2024, v. 12, n. 8, p. 838, doi. 10.3390/healthcare12080838
- By:
- Publication type:
- Article
A novel MLIP truncating variant in an 80-year-old patient with late-onset progressive weakness.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations.
- Published in:
- 2019
- By:
- Publication type:
- Letter
Identification of Potential Muscle Biomarkers in McArdle Disease: Insights from Muscle Proteome Analysis.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 9, p. 4650, doi. 10.3390/ijms23094650
- By:
- Publication type:
- Article
Plasma Gelsolin Reinforces the Diagnostic Value of FGF-21 and GDF-15 for Mitochondrial Disorders.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 12, p. 6396, doi. 10.3390/ijms22126396
- By:
- Publication type:
- Article
Preferent Diaphragmatic Involvement in TK2 Deficiency: An Autopsy Case Study.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 11, p. 5598, doi. 10.3390/ijms22115598
- By:
- Publication type:
- Article
Magnetic resonance spectroscopy in MELAS syndrome: correlation with CSF and plasma metabolite levels and change after glutamine supplementation.
- Published in:
- Neuroradiology, 2024, v. 66, n. 3, p. 389, doi. 10.1007/s00234-023-03263-1
- By:
- Publication type:
- Article
Late-onset thymidine kinase 2 deficiency: a review of 18 cases.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Myosin myopathy with external ophthalmoplegia associated with a novel homozygous mutation in MYH2.
- Published in:
- 2017
- By:
- Publication type:
- journal article
A milder phenotype of megaconial congenital muscular dystrophy due to a novel CHKB mutation.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Delayed Diagnosis of Congenital Myasthenic Syndromes Erroneously Interpreted as Mitochondrial Myopathies.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 9, p. 3308, doi. 10.3390/jcm12093308
- By:
- Publication type:
- Article
Serum GDF-15 Levels Accurately Differentiate Patients with Primary Mitochondrial Myopathy, Manifesting with Exercise Intolerance and Fatigue, from Patients with Chronic Fatigue Syndrome.
- Published in:
- Journal of Clinical Medicine, 2023, v. 12, n. 6, p. 2435, doi. 10.3390/jcm12062435
- By:
- Publication type:
- Article
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 10, p. 2750, doi. 10.3390/jcm11102750
- By:
- Publication type:
- Article
Clinical, Histological, and Genetic Features of 25 Patients with Autosomal Dominant Progressive External Ophthalmoplegia (ad-PEO)/PEO-Plus Due to TWNK Mutations.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 1, p. 22, doi. 10.3390/jcm11010022
- By:
- Publication type:
- Article
Survey on the management of Pompe disease in routine clinical practice in Spain.
- Published in:
- 2022
- By:
- Publication type:
- journal article
Collaborative model for diagnosis and treatment of very rare diseases: experience in Spain with thymidine kinase 2 deficiency.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Increased dNTP pools rescue mtDNA depletion in human POLG-deficient fibroblasts.
- Published in:
- FASEB Journal, 2019, v. 33, n. 6, p. 7168, doi. 10.1096/fj.201801591R
- By:
- Publication type:
- Article
Advances in Thymidine Kinase 2 Deficiency: Clinical Aspects, Translational Progress, and Emerging Therapies.
- Published in:
- Journal of Neuromuscular Diseases, 2022, v. 9, n. 2, p. 225, doi. 10.3233/JND-210786
- By:
- Publication type:
- Article
Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis.
- Published in:
- 2024
- By:
- Publication type:
- Correction Notice
Distal hereditary motor neuronopathy as a new phenotype associated with variants in BAG3.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 2, p. 986, doi. 10.1007/s00415-023-12039-9
- By:
- Publication type:
- Article
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 12, p. 5849, doi. 10.1007/s00415-023-11862-4
- By:
- Publication type:
- Article
Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 7, p. 3550, doi. 10.1007/s00415-021-10957-0
- By:
- Publication type:
- Article
Elevated glutamate and decreased glutamine levels in the cerebrospinal fluid of patients with MELAS syndrome.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 6, p. 3238, doi. 10.1007/s00415-021-10942-7
- By:
- Publication type:
- Article
Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum.
- Published in:
- Journal of Neurology, 2020, v. 267, n. 9, p. 2546, doi. 10.1007/s00415-020-09872-7
- By:
- Publication type:
- Article
Bethlem myopathy: a series of 16 patients and description of seven new associated mutations.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 4, p. 934, doi. 10.1007/s00415-019-09217-z
- By:
- Publication type:
- Article
Reply: High‐dose oral glutamine can reduce cerebrospinal fluid glutamate in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes without a beneficial clinical or cerebral tissue effect.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 4, p. 1158, doi. 10.1111/ene.15683
- By:
- Publication type:
- Article
High‐dose oral glutamine supplementation reduces elevated glutamate levels in cerebrospinal fluid in patients with mitochondrial encephalomyopathy, lactic acidosis and stroke‐like episodes syndrome.
- Published in:
- European Journal of Neurology, 2023, v. 30, n. 2, p. 538, doi. 10.1111/ene.15626
- By:
- Publication type:
- Article
SOD1 mutations in adult‐onset distal spinal muscular atrophy.
- Published in:
- European Journal of Neurology, 2020, v. 27, n. 11, p. e75, doi. 10.1111/ene.14426
- By:
- Publication type:
- Article
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure.
- Published in:
- Acta Neuropathologica, 2023, v. 145, n. 1, p. 127, doi. 10.1007/s00401-022-02510-8
- By:
- Publication type:
- Article
Altered Expression Ratio of Actin-Binding Gelsolin Isoforms Is a Novel Hallmark of Mitochondrial OXPHOS Dysfunction.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 9, p. 1922, doi. 10.3390/cells9091922
- By:
- Publication type:
- Article
Clinical, Biochemical, and Molecular Characterization of Two Families with Novel Mutations in the LDHA Gene (GSD XI).
- Published in:
- 2022
- By:
- Publication type:
- Case Study
A newly distal hereditary motor neuropathy caused by a rare AIFM1 mutation.
- Published in:
- Neurogenetics, 2017, v. 18, n. 4, p. 245, doi. 10.1007/s10048-017-0524-6
- By:
- Publication type:
- Article
Imaging mass cytometry analysis of Becker muscular dystrophy muscle samples reveals different stages of muscle degeneration.
- Published in:
- Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-51906-x
- By:
- Publication type:
- Article