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New AARS2 Mutations in Two Siblings With Tremor, Downbeat Nystagmus, and Primary Amenorrhea: A Benign Phenotype Without Leukoencephalopathy.
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- Movement Disorders Clinical Practice, 2020, v. 7, n. 6, p. 684, doi. 10.1002/mdc3.12991
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- Article
Overt Hypogonadism May Not Be a Sentinel Sign of RING Finger Protein 216: Two Novel Mutations Associated with Ataxia, Chorea, and Fertility.
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- Movement Disorders Clinical Practice, 2019, v. 6, n. 8, p. 724, doi. 10.1002/mdc3.12839
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- 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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- Article
POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients.
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- Neurological Sciences, 2022, v. 43, n. 2, p. 1071, doi. 10.1007/s10072-021-05462-1
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- Article
Application of the p9NORM correction method to timed neuropsychological tests in Parkinson's disease and multiple system atrophy.
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- Neurological Sciences, 2020, v. 41, n. 12, p. 3633, doi. 10.1007/s10072-020-04478-3
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- Article
Spinocerebellar ataxia type 48: last but not least.
- Published in:
- 2020
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- Publication type:
- journal article
Longitudinal study of a cohort of MSA-C patients in South Italy: survival and clinical features.
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- 2019
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- Publication type:
- journal article
Degenerative and acquired sporadic adult onset ataxia.
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- 2019
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- Publication type:
- journal article
Predictors of survival in spinocerebellar ataxia type 2 population from Southern Italy.
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- 2018
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- Publication type:
- journal article
Peripheral markers of autophagy in polyglutamine diseases.
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- 2018
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- Publication type:
- journal article
Correction to: Peripheral markers of autophagy in polyglutamine diseases.
- Published in:
- 2018
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- Publication type:
- corrected article
A wearable proprioceptive stabilizer for rehabilitation of limb and gait ataxia in hereditary cerebellar ataxias: a pilot open-labeled study.
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- 2017
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- Publication type:
- journal article
Giuseppe Andrea Buscaino.
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- Neurological Sciences, 2013, v. 34, n. 4, p. 609, doi. 10.1007/s10072-013-1352-6
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- Article
Course and outcome of a voltage-gated potassium channel antibody negative Morvan's syndrome.
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- 2009
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- Publication type:
- journal article
Course and outcome of a voltage-gated potassium channel antibody negative Morvan’s syndrome.
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- Neurological Sciences, 2009, v. 30, n. 3, p. 237, doi. 10.1007/s10072-009-0041-y
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- Publication type:
- Article
Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature.
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- Frontiers in Neurology, 2019, p. N.PAG, doi. 10.3389/fneur.2019.00003
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- Article
Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome.
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- Frontiers in Neurology, 2018, p. N.PAG, doi. 10.3389/fneur.2018.00728
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- Publication type:
- Article
Neurofilaments in spinocerebellar ataxia type 3: blood biomarkers at the preataxic and ataxic stage in humans and mice.
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- EMBO Molecular Medicine, 2020, v. 12, n. 7, p. 1, doi. 10.15252/emmm.201911803
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- Article
Normalization of timed neuropsychological tests with the PATA rate and nine‐hole pegboard tests.
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- Journal of Neuropsychology, 2018, v. 12, n. 3, p. 471, doi. 10.1111/jnp.12125
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- Article
Defensive Architecture Mapping: a case study in the city of Curitiba, Paraná, Brazil.
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- Abstracts of the ICA, 2019, v. 1, p. 1, doi. 10.5194/ica-abs-1-73-2019
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- Article
Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes.
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- Cerebellum, 2024, v. 23, n. 2, p. 688, doi. 10.1007/s12311-023-01549-x
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- Article
Emotion Recognition and Psychological Comorbidity in Friedreich’s Ataxia.
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- Cerebellum, 2018, v. 17, n. 3, p. 336, doi. 10.1007/s12311-018-0918-5
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- Article
Somatosensory Temporal Discrimination Threshold Is Increased in Patients with Cerebellar Atrophy.
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- Cerebellum, 2013, v. 12, n. 4, p. 456, doi. 10.1007/s12311-012-0435-x
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- Article
Spinocerebellar Ataxia Types 1, 2, 3 and 6: the Clinical Spectrum of Ataxia and Morphometric Brainstem and Cerebellar Findings.
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- Cerebellum, 2012, v. 11, n. 1, p. 155, doi. 10.1007/s12311-011-0292-z
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- Publication type:
- Article
PPAR-γ Agonist Azelaoyl PAF Increases Frataxin Protein and mRNA Expression. New Implications for the Friedreich’s Ataxia Therapy.
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- Cerebellum, 2009, v. 8, n. 2, p. 98, doi. 10.1007/s12311-008-0087-z
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- Article
Recombinant Human Erythropoietin Increases Frataxin Protein Expression Without Increasing mRNA Expression.
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- Cerebellum, 2008, v. 7, n. 3, p. 360, doi. 10.1007/s12311-008-0036-x
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- Publication type:
- Article
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
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- Nature Genetics, 2015, v. 47, n. 1, p. 39, doi. 10.1038/ng.3144
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- Article
Default-Mode Network Changes in Huntington’s Disease: An Integrated MRI Study of Functional Connectivity and Morphometry.
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- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0072159
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- Article
A Combined Nucleic Acid and Protein Analysis in Friedreich Ataxia: Implications for Diagnosis, Pathogenesis and Clinical Trial Design.
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- PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0017627
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- Article
Spinocerebellar ataxia type 2-neuronopathy or neuropathy?
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- 2019
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- Publication type:
- journal article
Complex phenotype in an Italian family with a novel mutation in SPG3A.
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- Journal of Neurology, 2010, v. 257, n. 3, p. 328, doi. 10.1007/s00415-009-5311-3
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- Publication type:
- Article
Two novel CYP7B1 mutations in Italian families with SPG5: a clinical and genetic study.
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- Journal of Neurology, 2009, v. 256, n. 8, p. 1252, doi. 10.1007/s00415-009-5109-3
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- Article
A novel KIF5A/ SPG10 mutation in spastic paraplegia associated with axonal neuropathy.
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- Journal of Neurology, 2008, v. 255, n. 7, p. 1090, doi. 10.1007/s00415-008-0840-8
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- Publication type:
- Article
Nigrostriatal involvement in ataxia with oculomotor apraxia type 1.
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- Journal of Neurology, 2008, v. 255, n. 1, p. 45, doi. 10.1007/s00415-007-0657-x
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- Publication type:
- Article
A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia.
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- Journal of Neurology, 2007, v. 254, n. 8, p. 1133, doi. 10.1007/s00415-006-0475-6
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- Article
Neurophysiological evidence of corticospinal tract abnormality in patients with Parkin mutations.
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- Journal of Neurology, 2006, v. 253, n. 3, p. 1
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- Article
Autosomal recessive progressive myoclonus epilepsy with ataxia and mental retardation.
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- Journal of Neurology, 2005, v. 252, n. 8, p. 897, doi. 10.1007/s00415-005-0766-3
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- Publication type:
- Article
The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.
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- Journal of Neurology, 2005, v. 252, n. 8, p. 901, doi. 10.1007/s00415-005-0768-1
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- Article
A pathogenetic classification of hereditary ataxias: Is the time ripe?
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- Journal of Neurology, 2004, v. 251, n. 8, p. 913, doi. 10.1007/s00415-004-0484-2
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- Article
Noninvasive Assessment of Systolic and Diastolic Function in 50 Patients with Friedreich's Ataxia.
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- Cardiology, 1988, v. 75, n. 5, p. 321, doi. 10.1159/000174394
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- Article
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia.
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- JAMA Neurology, 2015, v. 72, n. 5, p. 561, doi. 10.1001/jamaneurol.2014.4769
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- Article
Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes.
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- Brain: A Journal of Neurology, 2014, v. 137, n. 9, p. 2444, doi. 10.1093/brain/awu174
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- Article
Reduced cardiac I-metaiodobenzylguanidine uptake in patients with spinocerebellar ataxia type 2: a comparative study with Parkinson's disease.
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- European Journal of Nuclear Medicine & Molecular Imaging, 2013, v. 40, n. 12, p. 1914, doi. 10.1007/s00259-013-2524-6
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- Publication type:
- Article
Comparison between a dual-head and a brain-dedicated SPECT system in the measurement of the loss of dopamine transporters with [<sup>123</sup>I]FP-CIT.
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- European Journal of Nuclear Medicine & Molecular Imaging, 2008, v. 35, n. 7, p. 1343, doi. 10.1007/s00259-008-0729-x
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- Publication type:
- Article
Identification by [<sup>99m</sup>Tc]ECD SPECT of anterior cingulate hypoperfusion in progressive supranuclear palsy, in comparison with Parkinson’s disease.
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- European Journal of Nuclear Medicine & Molecular Imaging, 2007, v. 34, n. 7, p. 1071, doi. 10.1007/s00259-006-0344-7
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- Publication type:
- Article
SCAR32: Functional characterization and expansion of the clinical‐genetic spectrum.
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- Annals of Clinical & Translational Neurology, 2024, v. 11, n. 7, p. 1879, doi. 10.1002/acn3.52094
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- Publication type:
- Article
Cognitive and functional connectivity alterations in Friedreich's ataxia.
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- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 6, p. 677, doi. 10.1002/acn3.555
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- Publication type:
- Article
The Multiple Faces of Spinocerebellar Ataxia type 2.
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- Annals of Clinical & Translational Neurology, 2017, v. 4, n. 9, p. 687, doi. 10.1002/acn3.437
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- Publication type:
- Article
Safety and feasibility of upper limb cardiopulmonary exercise test in Friedreich ataxia.
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- European Journal of Preventive Cardiology, 2022, v. 29, n. 3, p. 445, doi. 10.1093/eurjpc/zwaa134
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- Publication type:
- Article
Friedreich's ataxia: electrophysiological and histological findings.
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- Acta Neurologica Scandinavica, 1983, v. 67, n. 1, p. 26, doi. 10.1111/j.1600-0404.1983.tb04542.x
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- Publication type:
- Article