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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
NEWS and VIEWS: mitochondrial encephalomyopathies.
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- Acta Myologica, 2016, v. 35, p. 135
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- Publication type:
- Article
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
Levetiracetam-responsive myoclonus in spinocerebellar ataxia type 15.
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- Movement Disorders, 2013, v. 28, n. 10, p. 1465, doi. 10.1002/mds.25433
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- Publication type:
- Article
Electron transfer mediators and other metabolites and cofactors in the treatment of mitochondrial dysfunction.
- Published in:
- Nutrition Reviews, 2009, v. 67, n. 8, p. 427, doi. 10.1111/j.1753-4887.2009.00221.x
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- Publication type:
- Article
Quality of Life in Adult Patients with Mitochondrial Myopathy.
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- Neuroepidemiology, 2012, v. 38, n. 3, p. 194, doi. 10.1159/000337161
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- Publication type:
- Article
POLG1-Related and other 'Mitochondrial Parkinsonisms': an Overview.
- Published in:
- Journal of Molecular Neuroscience, 2011, v. 44, n. 1, p. 17, doi. 10.1007/s12031-010-9488-9
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- Publication type:
- Article
Autonomic, functional, skeletal muscle, and cardiac abnormalities are associated with increased ergoreflex sensitivity in mitochondrial disease.
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- European Journal of Heart Failure. Supplements, 2017, v. 19, n. 12, p. 1701, doi. 10.1002/ejhf.782
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- Publication type:
- Article
Oxidative stress biomarkers in mitochondrial myopathies, basally and after cysteine donor supplementation.
- Published in:
- Journal of Neurology, 2010, v. 257, n. 5, p. 774, doi. 10.1007/s00415-009-5409-7
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- Publication type:
- Article
Autonomic, functional, skeletal muscle, and cardiac abnormalities are associated with increased ergoreflex sensitivity in mitochondrial disease.
- Published in:
- 2017
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- Publication type:
- journal article
Oxidative Stress Treatment for Clinical Trials in Neurodegenerative Diseases.
- Published in:
- Journal of Alzheimer's Disease, 2011, v. 24, n. S2, p. 111
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- Publication type:
- Article
Oxidative Stress Treatment for Clinical Trials in Neurodegenerative Diseases.
- Published in:
- Journal of Alzheimer's Disease, 2011, v. 23, n. S1, p. 111, doi. 10.3233/JAD-2011-110164
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- Publication type:
- Article
Oxidative stress treatment for clinical trials in neurodegenerative diseases.
- Published in:
- 2011
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- Publication type:
- journal article
Primary Coenzyme Q10 Deficiency-Related Ataxias.
- Published in:
- Journal of Clinical Medicine, 2024, v. 13, n. 8, p. 2391, doi. 10.3390/jcm13082391
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- Publication type:
- Article
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS): A Gender Perspective.
- Published in:
- Journal of Clinical Medicine, 2022, v. 11, n. 4, p. N.PAG, doi. 10.3390/jcm11041002
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- Publication type:
- Article
Mitochondrial Medicine in the COVID-19 Era.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 22, p. 5235, doi. 10.3390/jcm10225235
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- Publication type:
- Article
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 15, p. 3222, doi. 10.3390/jcm10153222
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- Publication type:
- Article
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 10, p. 2063, doi. 10.3390/jcm10102063
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- Publication type:
- Article
Increased Creatine Kinase May Predict A Worse COVID-19 Outcome.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 8, p. 1734, doi. 10.3390/jcm10081734
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- Publication type:
- Article
Mitochondrial Syndromes Revisited.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 6, p. 1249, doi. 10.3390/jcm10061249
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- Publication type:
- Article
Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 5, p. 914, doi. 10.3390/jcm10050914
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- Publication type:
- Article
Endothelial Nitric Oxide Synthase Knockdown in Human Stem Cells Impacts Mitochondrial Biogenesis and Adipogenesis: Live-Cell Real-Time Fluorescence Imaging.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 4, p. 631, doi. 10.3390/jcm10040631
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- Publication type:
- Article
Telemedicine in Neuromuscular Diseases During Covid-19 Pandemic: ERN-NMD European Survey.
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- Journal of Neuromuscular Diseases, 2023, v. 10, n. 2, p. 173, doi. 10.3233/JND-221525
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- Publication type:
- Article
Fabry-Stroke Italian Registry (FSIR): a nationwide, prospective, observational study about incidence and characteristics of Fabry-related stroke in young-adults. Presentation of the study protocol.
- Published in:
- Neurological Sciences, 2022, v. 43, n. 4, p. 2433, doi. 10.1007/s10072-021-05615-2
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- Publication type:
- Article
Type-1 neurofibromatosis mimicking multiple mononeuropathy: the help of nerve ultrasound.
- Published in:
- 2021
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- Publication type:
- Letter
Psychiatric involvement in adult patients with mitochondrial disease.
- Published in:
- Neurological Sciences, 2013, v. 34, n. 1, p. 71, doi. 10.1007/s10072-011-0901-0
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- Publication type:
- Article
Nerve and muscle involvement in mitochondrial disorders: an electrophysiological study.
- Published in:
- Neurological Sciences, 2012, v. 33, n. 2, p. 449, doi. 10.1007/s10072-011-0703-4
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- Publication type:
- Article
Inflammatory myopathy in a patient with postural and kinetik tremor.
- Published in:
- Neurological Sciences, 2011, v. 32, n. 6, p. 1175, doi. 10.1007/s10072-011-0615-3
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- Publication type:
- Article
Clock T3111C and Per2 C111G SNPs do not influence circadian rhythmicity in healthy Italian population.
- Published in:
- Neurological Sciences, 2011, v. 32, n. 1, p. 89, doi. 10.1007/s10072-010-0415-1
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- Publication type:
- Article
Creutzfeldt-Jakob disease with E200K PRNP mutation: a case report and revision of the literature.
- Published in:
- 2009
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- Publication type:
- journal article
Creutzfeldt–Jakob disease with E200K PRNP mutation: a case report and revision of the literature.
- Published in:
- Neurological Sciences, 2009, v. 30, n. 5, p. 417, doi. 10.1007/s10072-009-0118-7
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- Publication type:
- Article
May 'Mitochondrial Eve' and Mitochondrial Haplogroups Play a Role in Neurodegeneration and Alzheimer's Disease?
- Published in:
- 2011
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- Publication type:
- Journal Article
May "Mitochondrial Eve" and Mitochondrial Haplogroups Play a Role in Neurodegeneration and Alzheimer's Disease?
- Published in:
- International Journal of Alzheimer's Disease, 2011, v. 2011, p. 1, doi. 10.4061/2011/709061
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- Publication type:
- Article
Mitochondria, oxidative stress and PARP-1 network: a new target for neuroprotective effects of tetracyclines?
- Published in:
- Journal of Physiology, 2008, v. 586, n. 10, p. 2427, doi. 10.1113/jphysiol.2008.152819
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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?
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- Journal of Neurology, 2014, v. 261, n. 3, p. 504, doi. 10.1007/s00415-013-7225-3
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- Publication type:
- Article
Novel MTCYB mutation in a young patient with recurrent stroke-like episodes and status epilepticus.
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- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 11, p. 2922, doi. 10.1002/ajmg.a.36725
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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
Mitochondrial DNA single deletion in a patient with postural tremor.
- Published in:
- Movement Disorders, 2008, v. 23, n. 14, p. 2098, doi. 10.1002/mds.22050
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- Publication type:
- Article
How Next-Generation Sequencing Is Changing Clinical Neurogenetics.
- Published in:
- Neurology International, 2021, v. 13, n. 4, p. 569, doi. 10.3390/neurolint13040056
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- Publication type:
- Article