Found: 22
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Long-term effect of epoetin alfa on clinical and biochemical markers in friedreich ataxia.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit.
- Published in:
- Movement Disorders, 2011, v. 26, n. 4, p. 739, doi. 10.1002/mds.23435
- By:
- Publication type:
- Article
Antiphospholipid-related chorea.
- Published in:
- Frontiers in Neurology, 2012, v. 3, p. 1, doi. 10.3389/fneur.2012.00150
- By:
- Publication type:
- Article
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
- Published in:
- 2017
- By:
- Publication type:
- journal article
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 16, p. 8490, doi. 10.3390/ijms22168490
- By:
- 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
- By:
- Publication type:
- Article
The Multiple Faces of Spinocerebellar Ataxia type 2.
- Published in:
- Annals of Clinical & Translational Neurology, 2017, v. 4, n. 9, p. 687, doi. 10.1002/acn3.437
- By:
- Publication type:
- Article
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
- Published in:
- 2023
- By:
- Publication type:
- Correction Notice
Correction to: Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
- Published in:
- 2022
- By:
- Publication type:
- Correction Notice
Monoallelic KIF1A-related disorders: a multicenter cross sectional study and systematic literature review.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 1, p. 437, doi. 10.1007/s00415-021-10792-3
- By:
- Publication type:
- Article
Be aware of Wolfram syndrome when examining ataxic patients.
- Published in:
- 2016
- By:
- Publication type:
- Letter
Clinical use of frataxin measurement in a patient with a novel deletion in the FXN gene.
- Published in:
- Journal of Neurology, 2013, v. 260, n. 4, p. 1116, doi. 10.1007/s00415-012-6770-5
- By:
- Publication type:
- Article
Longitudinal study of a cohort of MSA-C patients in South Italy: survival and clinical features.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Mutations in the SPAST gene causing hereditary spastic paraplegia are related to global topological alterations in brain functional networks.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Predictors of survival in spinocerebellar ataxia type 2 population from Southern Italy.
- Published in:
- 2018
- By:
- Publication type:
- journal article
PDCD10 Gene Mutations in Multiple Cerebral Cavernous Malformations.
- Published in:
- PLoS ONE, 2014, v. 9, n. 10, p. 1, doi. 10.1371/journal.pone.0110438
- By:
- Publication type:
- Article
A Combined Nucleic Acid and Protein Analysis in Friedreich Ataxia: Implications for Diagnosis, Pathogenesis and Clinical Trial Design.
- Published in:
- PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0017627
- By:
- Publication type:
- Article
Somatosensory Temporal Discrimination Threshold Is Increased in Patients with Cerebellar Atrophy.
- Published in:
- Cerebellum, 2013, v. 12, n. 4, p. 456, doi. 10.1007/s12311-012-0435-x
- 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
- By:
- Publication type:
- Article
CCM3/ PDCD10 gene mutation in cerebral cavernous malformations associated with hyperkeratotic cutaneous capillary venous malformations.
- Published in:
- Journal of Dermatology, 2016, v. 43, n. 8, p. 962, doi. 10.1111/1346-8138.13317
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- Publication type:
- Article
Complex phenotype in an Italian family with a novel mutation in SPG3A.
- Published in:
- Journal of Neurology, 2010, v. 257, n. 3, p. 328, doi. 10.1007/s00415-009-5311-3
- By:
- Publication type:
- Article
Spinocerebellar ataxia type 2-neuronopathy or neuropathy?
- Published in:
- 2019
- By:
- Publication type:
- journal article