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C9orf72 repeat expansions as genetic modifiers for depression in spinocerebellar ataxias.
- Published in:
- 2018
- By:
- Publication type:
- letter
Measuring the rate of progression in Friedreich ataxia: Implications for clinical trial design.
- Published in:
- Movement Disorders, 2010, v. 25, n. 4, p. 426, doi. 10.1002/mds.22912
- By:
- Publication type:
- Article
Unique exercise Lactate profile in Muscle phosphofructokinase deficiency (tarui disease); difference Compared with Mcardle disease.
- Published in:
- Frontiers in Neurology, 2016, p. 1, doi. 10.3389/fneur.2016.00082
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- Publication type:
- Article
Clinically Meaningful Magnetic Resonance Endpoints Sensitive to Preataxic Spinocerebellar Ataxia Types 1 and 3.
- Published in:
- Annals of Neurology, 2023, v. 93, n. 4, p. 686, doi. 10.1002/ana.26573
- By:
- Publication type:
- Article
Safety and Efficacy of Omaveloxolone in Friedreich Ataxia (MOXIe Study).
- Published in:
- Annals of Neurology, 2021, v. 89, n. 2, p. 212, doi. 10.1002/ana.25934
- By:
- Publication type:
- Article
Safety, pharmacodynamics, and potential benefit of omaveloxolone in Friedreich ataxia.
- Published in:
- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 1, p. 15, doi. 10.1002/acn3.660
- By:
- Publication type:
- Article
AAEE case report #14: Neuralgic amyotrophy (acute brachial neuropathy).
- Published in:
- Muscle & Nerve, 1988, v. 11, n. 1, p. 39, doi. 10.1002/mus.880110108
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- Publication type:
- Article
Lack of cold sensitivity in hyperkalemic periodic paralysis.
- Published in:
- Muscle & Nerve, 1986, v. 9, n. 8, p. 700, doi. 10.1002/mus.880090804
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- Publication type:
- Article
Motor neuropathy associated with a facilitating myasthenic syndrome.
- Published in:
- Muscle & Nerve, 1986, v. 9, n. 1, p. 64, doi. 10.1002/mus.880090110
- By:
- Publication type:
- Article
Distinguishing paramyotonia congenita and myotonia congenita by electromyography.
- Published in:
- Muscle & Nerve, 1983, v. 6, n. 5, p. 374, doi. 10.1002/mus.880060506
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- Publication type:
- Article
SARA captures disparate progression and responsiveness in spinocerebellar ataxias.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 7, p. 3743, doi. 10.1007/s00415-024-12475-1
- By:
- Publication type:
- Article
Frataxin analysis using triple quadrupole mass spectrometry: application to a large heterogeneous clinical cohort.
- Published in:
- Journal of Neurology, 2024, v. 271, n. 4, p. 1844, doi. 10.1007/s00415-023-12118-x
- By:
- Publication type:
- Article
Mutation in the Kv3.3 Voltage-Gated Potassium Channel Causing Spinocerebellar Ataxia 13 Disrupts Sound-Localization Mechanisms.
- Published in:
- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0076749
- By:
- Publication type:
- Article
A Milestone in the Treatment of Ataxias: Approval of Omaveloxolone for Friedreich Ataxia.
- Published in:
- Cerebellum, 2024, v. 23, n. 2, p. 775, doi. 10.1007/s12311-023-01568-8
- By:
- Publication type:
- Article
Tremor in the Degenerative Cerebellum: Towards the Understanding of Brain Circuitry for Tremor.
- Published in:
- Cerebellum, 2019, v. 18, n. 3, p. 519, doi. 10.1007/s12311-019-01016-6
- By:
- Publication type:
- Article
C-terminal proline deletions in KCNC3 cause delayed channel inactivation and an adult-onset progressive SCA13 with spasticity.
- Published in:
- Cerebellum, 2018, v. 17, n. 5, p. 692, doi. 10.1007/s12311-018-0950-5
- By:
- Publication type:
- Article
Bergmann Glial S100B Activates Myo-inositol Monophosphatase 1 and Co-localizes to Purkinje Cell Vacuoles in SCA1 Transgenic Mice.
- Published in:
- Cerebellum, 2009, v. 8, n. 3, p. 231, doi. 10.1007/s12311-009-0125-5
- By:
- Publication type:
- Article
Temporal Invariance in SCA6 Is Related to Smaller Cerebellar Lobule VI and Greater Disease Severity.
- Published in:
- Journal of Neuroscience, 2020, v. 40, n. 8, p. 1722, doi. 10.1523/JNEUR0SCI.1532-19.2019
- By:
- Publication type:
- Article
Fragile X-associated tremor ataxia syndrome with co-occurrent progressive supranuclear palsy-like neuropathology.
- Published in:
- Acta Neuropathologica Communications, 2019, v. 7, n. 1, p. N.PAG, doi. 10.1186/s40478-019-0818-z
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- Publication type:
- Article
Loss of MBNL1 induces RNA misprocessing in the thymus and peripheral blood.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-15962-x
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- Publication type:
- Article
Steady or not following thalamic deep brain stimulation for essential tremor.
- Published in:
- Journal of Neurology, 2011, v. 258, n. 9, p. 1643, doi. 10.1007/s00415-011-5986-0
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- Publication type:
- Article
Identification of a new form of autosomal dominant spastic paraplegia.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Confirmation of the severe phenotypic effect of serine at codon 41 of the superoxide dismutase 1 gene.
- Published in:
- Muscle & Nerve, 2011, v. 44, n. 4, p. 499, doi. 10.1002/mus.22117
- By:
- Publication type:
- Article
Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits.
- Published in:
- Annals of Neurology, 2003, v. 54, n. 6, p. 725
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- Publication type:
- Article
Molecular and clinical correlations in spinocerebellar ataxia type 3 and Machado-Joseph disease.
- Published in:
- Annals of Neurology, 1995, v. 38, n. 1, p. 68, doi. 10.1002/ana.410380113
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- Publication type:
- Article
Intrafamilial variability in Machado-Joseph disease.
- Published in:
- Movement Disorders, 1996, v. 11, n. 6, p. 741, doi. 10.1002/mds.870110625
- By:
- Publication type:
- Article
Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, machado-joseph disease, or dentato-rubro-pallido-luysian atrophy locus.
- Published in:
- Movement Disorders, 1996, v. 11, n. 2, p. 174, doi. 10.1002/mds.870110210
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- Publication type:
- Article
Comorbid Medical Conditions in Friedreich Ataxia.
- Published in:
- Journal of Child Neurology, 2016, v. 31, n. 9, p. 1161, doi. 10.1177/0883073816643408
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- Publication type:
- Article
Friedreich Ataxia Clinical Outcome Measures: Natural History Evaluation in 410 Participants.
- Published in:
- Journal of Child Neurology, 2012, v. 27, n. 9, p. 1152, doi. 10.1177/0883073812448462
- By:
- Publication type:
- Article
SCA8 RAN polySer protein preferentially accumulates in white matter regions and is regulated by eIF3F.
- Published in:
- EMBO Journal, 2018, v. 37, n. 19, p. 1, doi. 10.15252/embj.201899023
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- Publication type:
- Article