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May migraine attack response to triptans be a predictor of the efficacy of Onabotulinum toxin-A prophylaxis?
- Published in:
- 2018
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- Publication type:
- journal article
Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia.
- Published in:
- 2019
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- Publication type:
- journal article
Safety and tolerability of carbamylated erythropoietin in Friedreich's ataxia.
- Published in:
- Movement Disorders, 2014, v. 29, n. 7, p. 935, doi. 10.1002/mds.25836
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- Publication type:
- Article
Safety and Tolerability of Carbamylated Erythropoietin in Friedreich's Ataxia.
- Published in:
- Movement Disorders, 2014, v. 29, p. 935, doi. 10.1002/mds.25836
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- Publication type:
- Article
Erythropoietin in Friedreich ataxia: No effect on frataxin in a randomized controlled trial.
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- Movement Disorders, 2012, v. 27, n. 3, p. 446, doi. 10.1002/mds.24066
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- Publication type:
- Article
Depression comorbidity in spinocerebellar ataxia.
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- Movement Disorders, 2011, v. 26, n. 5, p. 870, doi. 10.1002/mds.23698
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- Publication type:
- Article
Self-rated health status in spinocerebellar ataxia-Results from a European multicenter study.
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- Movement Disorders, 2010, v. 25, n. 5, p. 587, doi. 10.1002/mds.22740
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- Publication type:
- Article
Early symptoms in spinocerebellar ataxia type 1, 2, 3, and 6.
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- Movement Disorders, 2008, v. 23, n. 15, p. 2232, doi. 10.1002/mds.22288
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- Publication type:
- Article
Reliability and validity of the International Cooperative Ataxia Rating Scale: A study in 156 spinocerebellar ataxia patients.
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- Movement Disorders, 2006, v. 21, n. 5, p. 699, doi. 10.1002/mds.20781
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- Publication type:
- Article
Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient.
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- Movement Disorders, 2002, v. 17, n. 3, p. 612, doi. 10.1002/mds.10026
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- Publication type:
- Article
Genetic analysis of candidate genes modifying the age-at-onset in Huntington’s disease.
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- Human Genetics, 2006, v. 120, n. 2, p. 285, doi. 10.1007/s00439-006-0221-2
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- Publication type:
- Article
Accelerometer-based measures in Friedreich ataxia: a longitudinal study on real-life activity.
- Published in:
- Frontiers in Pharmacology, 2024, p. 1, doi. 10.3389/fphar.2024.1342965
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- Publication type:
- Article
Erythropoietin in Friedreich ataxia.
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- Journal of Neurochemistry, 2013, v. 126, p. 80, doi. 10.1111/jnc.12301
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- Publication type:
- Article
Clinical features of Friedreich's ataxia: classical and atypical phenotypes.
- Published in:
- Journal of Neurochemistry, 2013, v. 126, p. 103, doi. 10.1111/jnc.12317
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- Publication type:
- Article
Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.
- Published in:
- Neurogenetics, 2011, v. 12, n. 3, p. 193, doi. 10.1007/s10048-011-0281-x
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- Publication type:
- Article
Frataxin gene point mutations in Italian Friedreich ataxia patients.
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- Neurogenetics, 2007, v. 8, n. 4, p. 289, doi. 10.1007/s10048-007-0101-5
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- Publication type:
- Article
An RNA-seq study in Friedreich ataxia patients identified hsa-miR-148a-3p as a putative prognostic biomarker of the disease.
- Published in:
- Human Genomics, 2024, v. 18, n. 1, p. 1, doi. 10.1186/s40246-024-00602-y
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- Publication type:
- Article
Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study).
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- Annals of Neurology, 2021, v. 89, n. 2, p. 212, doi. 10.1002/ana.25934
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- Publication type:
- Article
Deferiprone in Friedreich ataxia: A 6-Month randomized controlled trial.
- Published in:
- Annals of Neurology, 2014, v. 76, n. 4, p. 509, doi. 10.1002/ana.24248
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- Publication type:
- Article
Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity.
- Published in:
- Neurogenetics, 2006, v. 7, n. 3, p. 149, doi. 10.1007/s10048-006-0044-2
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- Publication type:
- Article
Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression.
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- Movement Disorders Clinical Practice, 2017, v. 4, n. 5, p. 689, doi. 10.1002/mdc3.12522
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- Publication type:
- Article
Standardized Assessment of Hereditary Ataxia Patients in Clinical Studies.
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- Movement Disorders Clinical Practice, 2016, v. 3, n. 3, p. 230, doi. 10.1002/mdc3.12315
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- Publication type:
- Article
Cognitive and behavioral associated changes in manifest Huntington disease: A retrospective cross‐sectional study.
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- Brain & Behavior, 2021, v. 11, n. 7, p. 1, doi. 10.1002/brb3.2151
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- Publication type:
- Article
Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 4, p. 462, doi. 10.1038/sj.ejhg.5201995
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- Publication type:
- Article
OXPHOS defects and mitochondrial DNA mutations in cardiomyopathy.
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- Muscle & Nerve, 1995, v. 18, n. S14, p. S170, doi. 10.1002/mus.880181433
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- Publication type:
- Article
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies.
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- Nature Genetics, 2011, v. 43, n. 3, p. 259, doi. 10.1038/ng.761
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- Publication type:
- Article
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.
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- Nature Genetics, 2010, v. 42, n. 4, p. 313, doi. 10.1038/ng.544
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- Publication type:
- Article
Huntingtin gene CAG repeat size affects autism risk: Family‐based and case–control association study.
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- American Journal of Medical Genetics. Part B: Neuropsychiatric Genetics, 2020, v. 183, n. 6, p. 341, doi. 10.1002/ajmg.b.32806
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- Publication type:
- Article
Cerebellar Involvement in Patients with Mild to Moderate Myoclonus Due to EPM1: Structural and Functional MRI Findings in Comparison with Healthy Controls and Ataxic Patients.
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- Brain Topography, 2017, v. 30, n. 3, p. 380, doi. 10.1007/s10548-016-0534-y
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- Publication type:
- Article
Measuring cognitive impairment and monitoring cognitive decline in Huntington's disease: a comparison of assessment instruments.
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- Journal of Neurology, 2023, v. 270, n. 11, p. 5408, doi. 10.1007/s00415-023-11804-0
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- Publication type:
- Article
Correction to: Utility of the Parkinson's disease-Cognitive Rating Scale for the screening of global cognitive status in Huntington's disease.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Utility of the Parkinson's disease-Cognitive Rating Scale for the screening of global cognitive status in Huntington's disease.
- Published in:
- Journal of Neurology, 2020, v. 267, n. 5, p. 1527, doi. 10.1007/s00415-020-09730-6
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- Publication type:
- Article
ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.
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- Journal of Neurology, 2019, v. 266, n. 2, p. 378, doi. 10.1007/s00415-018-9141-z
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- Publication type:
- Article
Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias.
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- Journal of Neurology, 2018, v. 265, n. 9, p. 2040, doi. 10.1007/s00415-018-8954-0
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- Publication type:
- Article
Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome: a slowly progressive disorder with stereotypical presentation.
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- Journal of Neurology, 2016, v. 263, n. 2, p. 245, doi. 10.1007/s00415-015-7951-9
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- Publication type:
- Article
Italian cross-cultural adaptation of the patient-reported outcome measure of ataxia.
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- Neurological Sciences, 2023, v. 44, n. 8, p. 2773, doi. 10.1007/s10072-023-06714-y
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- Publication type:
- Article
Comorbidities in Friedreich ataxia: incidence and manifestations from early to advanced disease stages.
- Published in:
- 2022
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- Publication type:
- journal article
Ketogenic diet in refractory migraine: possible efficacy and role of ketone bodies-a pilot experience.
- Published in:
- 2022
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- Publication type:
- journal article
Deep brain stimulation in Huntington's disease: a literature review.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 11, p. 4447, doi. 10.1007/s10072-021-05527-1
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- Publication type:
- Article
Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 11, p. 4741, doi. 10.1007/s10072-021-05463-0
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- Publication type:
- Article
Frequency and distribution of polyQ disease intermediate-length repeat alleles in healthy Italian population.
- Published in:
- 2020
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- Publication type:
- journal article
Late-onset Huntington's disease with 40-42 CAG expansion.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Validation of the Italian version of the SBMA Functional Rating Scale as outcome measure.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Propensity matched comparison of omaveloxolone treatment to Friedreich ataxia natural history data.
- Published in:
- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 1, p. 4, doi. 10.1002/acn3.51897
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- Publication type:
- Article
Corrigendum: Combining Literature Review With a Ground Truth Approach for Diagnosing Huntington's Disease Phenocopy.
- Published in:
- 2022
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- Publication type:
- Correction Notice
Very Late-Onset Friedreich Ataxia with Laryngeal Dystonia.
- Published in:
- Case Reports in Neurology, 2014, v. 6, n. 3, p. 287, doi. 10.1159/000370062
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- Publication type:
- Article
Human Adipose-Derived Mesenchymal Stem Cells as a New Model of Spinal and Bulbar Muscular Atrophy.
- Published in:
- PLoS ONE, 2014, v. 9, n. 11, p. 1, doi. 10.1371/journal.pone.0112746
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- Publication type:
- Article
Impaired Temporal Processing of Tactile and Proprioceptive Stimuli in Cerebellar Degeneration.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0078628
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- Publication type:
- Article
Is the Oxidant/Antioxidant Status Altered in CADASIL Patients?
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0067077
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- Publication type:
- Article
Brain-Derived Neurotrophic Factor in Patients with Huntington's Disease.
- Published in:
- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0022966
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- Publication type:
- Article