Found: 40
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Complex multisystem phenotype associated with the mitochondrial DNA m.5522G>A mutation.
- Published in:
- 2019
- By:
- Publication type:
- journal article
SCN11A variant as possible pain generator in sensory axonal neuropathy.
- Published in:
- 2019
- By:
- Publication type:
- Case Study
Novel POLG mutations and variable clinical phenotypes in 13 Italian patients.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?
- Published in:
- 2015
- By:
- Publication type:
- Letter
A second MNGIE patient without typical mitochondrial skeletal muscle involvement.
- Published in:
- Neurological Sciences, 2010, v. 31, n. 4, p. 491, doi. 10.1007/s10072-010-0225-5
- By:
- Publication type:
- Article
Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome.
- Published in:
- Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00728
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- Publication type:
- Article
Partial Lipodystrophy and LMNA p.R545H Variant.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 5, p. 1142, doi. 10.3390/jcm10051142
- By:
- Publication type:
- Article
Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features - a case report.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
Expanding the clinical and genetic spectrum of pathogenic variants in STIM1.
- Published in:
- Muscle & Nerve, 2021, v. 64, n. 5, p. 567, doi. 10.1002/mus.27391
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- Publication type:
- Article
Automatic Recognition of Ragged Red Fibers in Muscle Biopsy from Patients with Mitochondrial Disorders.
- Published in:
- Healthcare (2227-9032), 2022, v. 10, n. 3, p. 574, doi. 10.3390/healthcare10030574
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- Publication type:
- Article
MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach.
- Published in:
- 2016
- By:
- Publication type:
- Case Study
The Revolution in Migraine Genetics: From Aching Channels Disorders to a Next-Generation Medicine.
- Published in:
- Frontiers in Cellular Neuroscience, 2016, p. 1, doi. 10.3389/fncel.2016.00156
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- Publication type:
- Article
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Expanding the clinical and genetic heterogeneity of SPAX5.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 4, p. 595, doi. 10.1002/acn3.51024
- By:
- Publication type:
- Article
Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 4, p. 584, doi. 10.1002/acn3.51018
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- Publication type:
- Article
Phenotypic Definition and Genotype-Phenotype Correlates in PMPCA-Related Disease.
- Published in:
- Applied Sciences (2076-3417), 2021, v. 11, n. 2, p. 748, doi. 10.3390/app11020748
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- Publication type:
- Article
Bi‐allelic variants in MDH2: Expanding the clinical phenotype.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 2, p. 260, doi. 10.1111/cge.14088
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- Publication type:
- Article
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?
- Published in:
- Annals of Human Genetics, 2020, v. 84, n. 5, p. 417, doi. 10.1111/ahg.12384
- By:
- Publication type:
- Article
Alpha-sarcoglycanopathy presenting as myalgia and hyperCKemia in two adults with a long-term follow-up. Case reports.
- Published in:
- Acta Myologica, 2020, v. 39, n. 4, p. 218, doi. 10.36185/2532-1900-025
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- Publication type:
- Article
Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient.
- Published in:
- Acta Myologica, 2020, v. 39, n. 2, p. 98, doi. 10.36185-2532-1900-013
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- Publication type:
- Article
Additive effect of DNAJC30 and NDUFA9 mutations causing Leigh syndrome.
- Published in:
- Journal of Neurology, 2023, v. 270, n. 6, p. 3266, doi. 10.1007/s00415-023-11673-7
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- Publication type:
- Article
New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ<sub>10</sub> deficiency in muscle or skin fibroblasts.
- Published in:
- Journal of Neurology, 2021, v. 268, n. 9, p. 3381, doi. 10.1007/s00415-021-10509-6
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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 series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings.
- Published in:
- Journal of Neurology, 2016, v. 263, n. 8, p. 1604, doi. 10.1007/s00415-016-8179-z
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- Publication type:
- Article
Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/ CYP2U1 family.
- Published in:
- Journal of Neurology, 2016, v. 263, n. 4, p. 781, doi. 10.1007/s00415-016-8066-7
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- Publication type:
- Article
Hereditary spastic paraplegia type 11 with a very late onset.
- Published in:
- 2015
- By:
- Publication type:
- Letter
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.
- Published in:
- Journal of Neurology, 2015, v. 262, n. 7, p. 1728, doi. 10.1007/s00415-015-7757-9
- By:
- Publication type:
- Article
Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy.
- Published in:
- Human Molecular Genetics, 2015, v. 24, n. 11, p. 3248, doi. 10.1093/hmg/ddv078
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- Publication type:
- Article
Molecular genotype in migraine.
- Published in:
- Journal of Headache & Pain, 2015, v. 16, p. 1, doi. 10.1186/1129-2377-16-S1-A30
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- Publication type:
- Article
A Child With Ichthyosis and Liver Failure.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Novel Biomarkers for Limb Girdle Muscular Dystrophy (LGMD).
- Published in:
- Cells (2073-4409), 2024, v. 13, n. 4, p. 329, doi. 10.3390/cells13040329
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- Publication type:
- Article
Congenital myopathies: clinical phenotypes and new diagnostic tools.
- Published in:
- Italian Journal of Pediatrics, 2017, v. 43, p. 1, doi. 10.1186/s13052-017-0419-z
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- Publication type:
- Article
Congenital Myopathy as a Phenotypic Expression of CACNA1S Gene Mutation: Case Report and Systematic Review of the Literature.
- Published in:
- Genes, 2023, v. 14, n. 7, p. 1363, doi. 10.3390/genes14071363
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- Publication type:
- Article
Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: The Example of RYR1 -Related Myopathies.
- Published in:
- Genes, 2023, v. 14, n. 2, p. 298, doi. 10.3390/genes14020298
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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
Novel COX11 Mutations Associated with Mitochondrial Disorder: Functional Characterization in Patient Fibroblasts and Saccharomyces cerevisiae.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 23, p. 16636, doi. 10.3390/ijms242316636
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- Publication type:
- Article
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.
- Published in:
- Neurogenetics, 2020, v. 21, n. 2, p. 87, doi. 10.1007/s10048-019-00601-5
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- Publication type:
- Article
Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings.
- Published in:
- Neurogenetics, 2019, v. 20, n. 3, p. 165, doi. 10.1007/s10048-019-00582-5
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- Publication type:
- Article
Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.
- Published in:
- Neurogenetics, 2018, v. 19, n. 2, p. 123, doi. 10.1007/s10048-018-0538-8
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- Publication type:
- Article
Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome.
- Published in:
- Movement Disorders, 2013, v. 28, n. 12, p. 1751, doi. 10.1002/mds.25470
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- Publication type:
- Article