Found: 22
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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
Cytokine Profile in Striated Muscle Laminopathies: New Promising Biomarkers for Disease Prediction.
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- Cells (2073-4409), 2020, v. 9, n. 6, p. 1532, doi. 10.3390/cells9061532
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- Publication type:
- Article
Differential diagnosis of vacuolar muscle biopsies: use of p62, LC3 and LAMP2 immunohistochemistry.
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- Acta Myologica, 2017, v. 36, n. 4, p. 191
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- Publication type:
- Article
Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study.
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- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 630, doi. 10.1038/ejhg.2012.233
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- Publication type:
- Article
Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 7, p. 2635, doi. 10.3390/ijms21072635
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- Publication type:
- Article
Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in SCN4A in a Large Cohort of Italian Patients.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00646
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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
CHINESE RED RICE DEPLETES MUSCLE COENZYME Q<sub>10</sub> AND MAINTAINS MUSCLE DAMAGE AFTER DISCONTINUATION OF STATIN TREATMENT.
- Published in:
- 2006
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- Publication type:
- Letter
Glycogen Storage Disease Type II Diagnosed in a 74-Year-Old Woman.
- Published in:
- 2004
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- Publication type:
- Letter
Phenotypic Variability Among Patients With D4Z4 Reduced Allele Facioscapulohumeral Muscular Dystrophy.
- Published in:
- JAMA Network Open, 2020, v. 3, n. 5, p. e204040, doi. 10.1001/jamanetworkopen.2020.4040
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- Publication type:
- Article
Large genotype–phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-78578-7
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- Publication type:
- Article
Lipomatosis Incidence and Characteristics in an Italian Cohort of Mitochondrial Patients.
- Published in:
- Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00160
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- Publication type:
- Article
Genetic characterization in symptomatic female DMD carriers: lack of relationship between X-inactivation, transcriptional DMD allele balancing and phenotype.
- Published in:
- BMC Medical Genetics, 2012, v. 13, n. 1, p. 73, doi. 10.1186/1471-2350-13-73
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- Publication type:
- Article
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.
- Published in:
- 2013
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- Publication type:
- journal article
Large scale genotype–phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 11, p. 3408, doi. 10.1093/brain/awt226
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- Publication type:
- Article
The analysis of myotonia congenita mutations discloses functional clusters of amino acids within the CBS2 domain and the C‐terminal peptide of the ClC‐1 channel.
- Published in:
- Human Mutation, 2018, v. 39, n. 9, p. 1273, doi. 10.1002/humu.23581
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- Publication type:
- Article
A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score.
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- Muscle & Nerve, 2010, v. 42, n. 2, p. 213, doi. 10.1002/mus.21671
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- Publication type:
- Article
Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.
- Published in:
- JAMA Neurology, 2018, v. 75, n. 5, p. 557, doi. 10.1001/jamaneurol.2017.4899
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- Publication type:
- Article
Adults living with Duchenne muscular dystrophy: old and new challenges in a cohort of 19 patients in their third to fifth decade.
- Published in:
- European Journal of Neurology, 2024, v. 31, n. 1, p. 1, doi. 10.1111/ene.16060
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- Publication type:
- Article