Found: 20
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Developing an objective evaluating system to quantify the degree of upper limb movement impairment in patients with severe Friedreich's ataxia.
- Published in:
- 2020
- By:
- Publication type:
- journal article
A wearable proprioceptive stabilizer for rehabilitation of limb and gait ataxia in hereditary cerebellar ataxias: a pilot open-labeled study.
- Published in:
- 2017
- By:
- Publication type:
- journal article
GIFT-1, a phase IIa clinical trial to test the safety and efficacy of IFNγ administration in FRDA patients.
- Published in:
- 2016
- By:
- Publication type:
- journal article
De novo mutations in SPG3A: a challenge in differential diagnosis and genetic counselling.
- Published in:
- 2015
- By:
- Publication type:
- Letter
Cerebellum and neuropsychiatric disorders: insights from ARSACS.
- Published in:
- Neurological Sciences, 2014, v. 35, n. 1, p. 95, doi. 10.1007/s10072-013-1592-5
- By:
- Publication type:
- Article
Progression of Gait Ataxia in Patients with Degenerative Cerebellar Disorders: a 4-Year Follow-Up Study.
- Published in:
- Cerebellum, 2017, v. 16, n. 3, p. 629, doi. 10.1007/s12311-016-0837-2
- By:
- Publication type:
- Article
A Clinical and Epidemiological Prevalence Study on Friedreich's Ataxia in Latium, Italy.
- Published in:
- Neuroepidemiology, 2022, v. 56, n. 3, p. 212, doi. 10.1159/000525159
- By:
- Publication type:
- Article
Safety and feasibility of upper limb cardiopulmonary exercise test in Friedreich ataxia.
- Published in:
- European Journal of Preventive Cardiology, 2022, v. 29, n. 3, p. 445, doi. 10.1093/eurjpc/zwaa134
- By:
- Publication type:
- Article
Developing a smartphone application, triaxial accelerometer-based, to quantify static and dynamic balance deficits in patients with cerebellar ataxias.
- Published in:
- Journal of Neurology, 2020, v. 267, n. 3, p. 625, doi. 10.1007/s00415-019-09570-z
- By:
- Publication type:
- Article
15-White Dots APP-Coo-Test: a reliable touch-screen application for assessing upper limb movement impairment in patients with cerebellar ataxias.
- Published in:
- Journal of Neurology, 2019, v. 266, n. 7, p. 1611, doi. 10.1007/s00415-019-09299-9
- By:
- 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
- By:
- Publication type:
- Article
Acute optic neuropathy associated with a novel MFN2 mutation.
- Published in:
- Journal of Neurology, 2015, v. 262, n. 7, p. 1678, doi. 10.1007/s00415-015-7756-x
- By:
- Publication type:
- Article
Spinocerebellar ataxia type 10 in Peru: the missing link in the Amerindian origin of the disease.
- Published in:
- Journal of Neurology, 2014, v. 261, n. 9, p. 1691, doi. 10.1007/s00415-014-7394-8
- By:
- Publication type:
- Article
Early-onset optic neuropathy as initial clinical presentation in SPG7.
- Published in:
- 2014
- By:
- Publication type:
- Letter
Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1.
- Published in:
- Journal of Neurology, 2014, v. 261, n. 4, p. 747, doi. 10.1007/s00415-014-7247-5
- By:
- Publication type:
- Article
Hsa-miR223-3p circulating level is upregulated in Friedreich's ataxia and inversely associated with HCLS1 associated protein X-1, HAX-1.
- Published in:
- Human Molecular Genetics, 2022, v. 31, n. 12, p. 2010, doi. 10.1093/hmg/ddac005
- By:
- Publication type:
- Article
Frataxin deficiency in Friedreich's ataxia is associated with reduced levels of HAX-1, a regulator of cardiomyocyte death and survival.
- Published in:
- Human Molecular Genetics, 2020, v. 29, n. 3, p. 471, doi. 10.1093/hmg/ddz306
- By:
- Publication type:
- Article
Spinocerebellar Ataxia Type 3 in Italy: Time to Change Mind.
- Published in:
- Neuroepidemiology, 2016, v. 46, n. 4, p. 268, doi. 10.1159/000444642
- By:
- Publication type:
- Article
Retinal and Visual Pathways Involvement in Carriers of Friedreich's Ataxia.
- Published in:
- Diagnostics (2075-4418), 2022, v. 12, n. 12, p. 3135, doi. 10.3390/diagnostics12123135
- By:
- Publication type:
- Article
Long-term effect of epoetin alfa on clinical and biochemical markers in friedreich ataxia.
- Published in:
- 2016
- By:
- Publication type:
- journal article