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Prediction of Survival With Long-Term Disease Progression in Most Common Spinocerebellar Ataxia.
- Published in:
- 2019
- By:
- 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.
- Published in:
- Movement Disorders, 2012, v. 27, n. 3, p. 446, doi. 10.1002/mds.24066
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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
Body Mass Index Decline Is Related to Spinocerebellar Ataxia Disease Progression.
- Published in:
- Movement Disorders Clinical Practice, 2017, v. 4, n. 5, p. 689, doi. 10.1002/mdc3.12522
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- Publication type:
- Article
Huntingtin gene CAG repeat size affects autism risk: Family‐based and case–control association study.
- Published in:
- 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.
- Published in:
- Brain Topography, 2017, v. 30, n. 3, p. 380, doi. 10.1007/s10548-016-0534-y
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- Publication type:
- Article
ANO10 mutational screening in recessive ataxia: genetic findings and refinement of the clinical phenotype.
- Published in:
- 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.
- Published in:
- Journal of Neurology, 2018, v. 265, n. 9, p. 2040, doi. 10.1007/s00415-018-8954-0
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- Publication type:
- Article
Child-to-adult transition: a survey of current practices within the European Reference Network for Rare Neurological Diseases (ERN-RND).
- Published in:
- Neurological Sciences, 2024, v. 45, n. 3, p. 1007, doi. 10.1007/s10072-023-07101-3
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- Publication type:
- Article
Italian cross-cultural adaptation of the patient-reported outcome measure of ataxia.
- Published in:
- 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
- By:
- Publication type:
- journal article
Significance and clinical suggestions for the somatosensory evoked potentials increased in amplitude revealed by a large sample of neurological patients.
- Published in:
- 2022
- By:
- Publication type:
- journal 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
- By:
- Publication type:
- journal article
Late-onset Huntington's disease with 40-42 CAG expansion.
- Published in:
- 2020
- By:
- Publication type:
- journal article
Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.
- Published in:
- Annals of Clinical & Translational Neurology, 2023, v. 10, n. 11, p. 2000, doi. 10.1002/acn3.51886
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- Publication type:
- Article
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
A novel MT-ATP6 variant associated with complicated ataxia in two unrelated Italian patients: case report and functional studies.
- Published in:
- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03212-y
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- Publication type:
- Article
Correction to: MR Imaging in Ataxias: Consensus Recommendations by the Ataxia Global Initiative Working Group on MRI Biomarkers.
- Published in:
- Cerebellum, 2024, v. 23, n. 3, p. 946, doi. 10.1007/s12311-023-01589-3
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- Publication type:
- Article
MR Imaging in Ataxias: Consensus Recommendations by the Ataxia Global Initiative Working Group on MRI Biomarkers.
- Published in:
- Cerebellum, 2024, v. 23, n. 3, p. 931, doi. 10.1007/s12311-023-01572-y
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- Publication type:
- Article
SCAview: an Intuitive Visual Approach to the Integrative Analysis of Clinical Data in Spinocerebellar Ataxias.
- Published in:
- Cerebellum, 2024, v. 23, n. 3, p. 887, doi. 10.1007/s12311-023-01546-0
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- Publication type:
- Article
Spinocerebellar Ataxia Type 1: One-Year Longitudinal Study to Identify Clinical and MRI Measures of Disease Progression in Patients and Presymptomatic Carriers.
- Published in:
- Cerebellum, 2022, v. 21, n. 1, p. 133, doi. 10.1007/s12311-021-01285-0
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- Publication type:
- Article
Tracking longitudinal thalamic volume changes during early stages of SCA1 and SCA2.
- Published in:
- La Radiologia Medica, 2024, v. 129, n. 8, p. 1215, doi. 10.1007/s11547-024-01839-2
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- Publication type:
- Article
SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.
- Published in:
- Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-123
- By:
- Publication type:
- Article
SETX mutations are a frequent genetic cause of juvenile and adult onset cerebellar ataxia with neuropathy and elevated serum alpha-fetoprotein.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Slowly progressive sensory hemisyndrome: unusual presentation of paraneoplastic sensory neuronopathy.
- Published in:
- 2010
- By:
- Publication type:
- Letter
In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia–Telangiectasia patients.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-77352-z
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- Publication type:
- Article
Fiberoptic endoscopic evaluation of swallowing in early-to-advanced stage Huntington's disease.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41598-020-72250-w
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- Publication type:
- Article
Prediction of the disease course in Friedreich ataxia.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-23666-z
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- Publication type:
- Article
Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.
- Published in:
- Brain: A Journal of Neurology, 2014, v. 137, n. 7, p. 1907, doi. 10.1093/brain/awu121
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- Publication type:
- Article
Rare association of motor neuron disease and spinocerebellar ataxia type 2 (SCA2): a new case and review of the literature.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study.
- Published in:
- Movement Disorders, 2024, v. 39, n. 3, p. 510, doi. 10.1002/mds.29687
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- Publication type:
- Article
Complex Ataxia‐Dementia Phenotype in Patients with Digenic TBP/STUB1 Spinocerebellar Ataxia.
- Published in:
- Movement Disorders, 2023, v. 38, n. 4, p. 665, doi. 10.1002/mds.29352
- By:
- Publication type:
- Article
Missing the pathological expansion in Huntington disease: de novo c.51C>G variant on the expanded allele causing intrafamilial allele dropout.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 2, p. 397, doi. 10.1002/ajmg.a.61973
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- Publication type:
- Article
From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 11, p. 2277, doi. 10.1002/ajmg.a.61339
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- Publication type:
- Article
Homozygous variant in OTX2 and possible genetic modifiers identified in a patient with combined pituitary hormone deficiency, ocular involvement, myopathy, ataxia, and mitochondrial impairment.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 5, p. 827, doi. 10.1002/ajmg.a.61092
- By:
- Publication type:
- Article
Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature.
- Published in:
- 2022
- By:
- Publication type:
- Case Study
Progression of Cerebellar Atrophy in Spinocerebellar Ataxia Type 2 Gene Carriers: A Longitudinal MRI Study in Preclinical and Early Disease Stages.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.616419
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- Publication type:
- Article
Predictors of malnutrition risk in neurodegenerative diseases: The role of swallowing function.
- Published in:
- European Journal of Neurology, 2022, v. 29, n. 8, p. 2493, doi. 10.1111/ene.15345
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- Publication type:
- Article