Found: 60
Select item for more details and to access through your institution.
Reply to: "Low Frequency of p.S510G in PIAS1 Challenges Its Relevance for Modifying Repeat Expansion Disorders".
- Published in:
- 2022
- By:
- Publication type:
- Letter
Radiological hints for differentiation of cerebellar multiple system atrophy from spinocerebellar ataxia.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-14531-0
- By:
- Publication type:
- Article
A recurrent WARS mutation is a novel cause of autosomal dominant distal hereditary motor neuropathy.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Rare Gain-of-Function KCND3 Variant Associated with Cerebellar Ataxia, Parkinsonism, Cognitive Dysfunction, and Brain Iron Accumulation.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 15, p. 8247, doi. 10.3390/ijms22158247
- By:
- Publication type:
- Article
Novel KCND3 Variant Underlying Nonprogressive Congenital Ataxia or SCA19/22 Disrupt K V 4.3 Protein Expression and K+ Currents with Variable Effects on Channel Properties.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4986, doi. 10.3390/ijms22094986
- By:
- Publication type:
- Article
Dysregulated brain creatine kinase is associated with hearing impairment in mouse models of Huntington disease.
- Published in:
- Journal of Clinical Investigation, 2011, v. 121, n. 4, p. 1519, doi. 10.1172/JCI43220
- By:
- Publication type:
- Article
Use of diffusion tensor imaging to identify similarities and differences between cerebellar and Parkinsonism forms of multiple system atrophy.
- Published in:
- Neuroradiology, 2011, v. 53, n. 7, p. 471, doi. 10.1007/s00234-010-0757-7
- By:
- Publication type:
- Article
Management of Patients with Cerebellar Ataxia During the COVID-19 Pandemic: Current Concerns and Future Implications.
- Published in:
- Cerebellum, 2020, v. 19, n. 4, p. 562, doi. 10.1007/s12311-020-01139-1
- By:
- Publication type:
- Article
Clinical and Genetic Characterization of Autosomal Recessive Spinocerebellar Ataxia Type 16 (SCAR16) in Taiwan.
- Published in:
- Cerebellum, 2020, v. 19, n. 4, p. 544, doi. 10.1007/s12311-020-01136-4
- By:
- Publication type:
- Article
Gabapentin for complex regional pain syndrome in Machado-Joseph disease: a case report.
- Published in:
- 2011
- By:
- Publication type:
- journal article
Characterization of CADASIL among the Han Chinese in Taiwan: Distinct Genotypic and Phenotypic Profiles.
- Published in:
- PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0136501
- By:
- Publication type:
- Article
Two Novel De Novo GARS Mutations Cause Early-Onset Axonal Charcot-Marie-Tooth Disease.
- Published in:
- PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0133423
- By:
- Publication type:
- Article
High Protein Diet and Huntington's Disease.
- Published in:
- PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0127654
- By:
- Publication type:
- Article
Change in the Cortical Complexity of Spinocerebellar Ataxia Type 3 Appears Earlier than Clinical Symptoms.
- Published in:
- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0118828
- By:
- Publication type:
- Article
Differences between Spinocerebellar Ataxias and Multiple System Atrophy-Cerebellar Type on Proton Magnetic Resonance Spectroscopy.
- Published in:
- PLoS ONE, 2012, v. 7, n. 10, p. 1, doi. 10.1371/journal.pone.0047925
- By:
- Publication type:
- Article
Association between Proton Magnetic Resonance Spectroscopy Measurements and CAG Repeat Number in Patients with Spinocerebellar Ataxias 2, 3, or 6.
- Published in:
- PLoS ONE, 2012, v. 7, n. 10, p. 1, doi. 10.1371/journal.pone.0047479
- By:
- Publication type:
- Article
PRRT2 Mutations in Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions in a Taiwanese Cohort.
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0038543
- By:
- Publication type:
- Article
The Mutational Spectrum in a Cohort of Charcot-Marie-Tooth Disease Type 2 among the Han Chinese in Taiwan.
- Published in:
- PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0029393
- By:
- Publication type:
- Article
Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes.
- Published in:
- Journal of Neurology, 2010, v. 257, n. 10, p. 1661, doi. 10.1007/s00415-010-5590-8
- By:
- Publication type:
- Article
Transmissible spongiform encephalopathies with P102L mutation of PRNP manifesting different phenotypes: clinical, neuroimaging, and electrophysiological studies in Chinese kindred in Taiwan.
- Published in:
- Journal of Neurology, 2010, v. 257, n. 2, p. 191, doi. 10.1007/s00415-009-5290-4
- By:
- Publication type:
- Article
The remarkably variable expressivity of CADASIL: report of a minimally symptomatic man at an advanced age.
- Published in:
- 2009
- By:
- Publication type:
- Letter
Population-specific spectrum of NOTCH3 mutations, MRI features and founder effect of CADASIL in Chinese.
- Published in:
- Journal of Neurology, 2009, v. 256, n. 2, p. 249, doi. 10.1007/s00415-009-0091-3
- By:
- Publication type:
- Article
Topographic brain mapping of the international cooperative ataxia rating scale.
- Published in:
- Journal of Neurology, 2007, v. 254, n. 6, p. 722, doi. 10.1007/s00415-006-0310-0
- By:
- Publication type:
- Article
Spastic paraparesis as a manifestation of metabolic vitamin B12 deficiency.
- Published in:
- Journal of Neurology, 2005, v. 252, n. 9, p. 1125, doi. 10.1007/s00415-005-0806-z
- By:
- Publication type:
- Article
Median nerve motor conduction velocity is concordant with myelin protein zero gene mutation.
- Published in:
- Journal of Neurology, 2005, v. 252, n. 2, p. 151, doi. 10.1007/s00415-005-0621-6
- By:
- Publication type:
- Article
Creutzfeldt-Jakob disease: heat shock protein 70 mRNA levels in mononuclear blood cells and clinical study.
- Published in:
- Journal of Neurology, 2000, v. 247, n. 12, p. 929, doi. 10.1007/s004150070048
- By:
- Publication type:
- Article
SCA8 repeat expansion: large CTA/CTG repeat alleles in neurological disorders and functional implications.
- Published in:
- Human Genetics, 2009, v. 125, n. 4, p. 437, doi. 10.1007/s00439-009-0641-x
- By:
- Publication type:
- Article
Diffusion Tensor Magnetic Resonance Imaging for Differentiating Multiple System Atrophy Cerebellar Type and Spinocerebellar Ataxia Type 3.
- Published in:
- Brain Sciences (2076-3425), 2019, v. 9, n. 12, p. 354, doi. 10.3390/brainsci9120354
- By:
- Publication type:
- Article
Galectin-3 is required for the microglia-mediated brain inflammation in a model of Huntington's disease.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-11441-0
- By:
- Publication type:
- Article
Pathogenic expansions of the SCA6 locus are associated with a common CACNA1A haplotype across the globe: founder effect or predisposing chromosome?
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 7, p. 841, doi. 10.1038/ejhg.2008.20
- By:
- Publication type:
- Article
Treadmill training increases the motor activity and neuron survival of the cerebellum in a mouse model of spinocerebellar ataxia type 1.
- Published in:
- Kaohsiung Journal of Medical Sciences, 2019, v. 35, n. 11, p. 679, doi. 10.1002/kjm2.12106
- By:
- Publication type:
- Article
Medullo-ponto-cerebellar white matter degeneration altered brain network organization and cortical morphology in multiple system atrophy.
- Published in:
- Brain Structure & Function, 2014, v. 219, n. 3, p. 947, doi. 10.1007/s00429-013-0545-3
- By:
- Publication type:
- Article
Reply to: SCA-19 and SCA-22: evidence for one locus with a worldwide distribution.
- Published in:
- Brain: A Journal of Neurology, 2004, v. 127, n. 1, p. 7, doi. 10.1093/brain/awh037
- By:
- Publication type:
- Article
Clinical characteristics of Taiwanese patients with Hereditary spastic paraplegia type 5.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 4, p. 486, doi. 10.1002/acn3.51019
- By:
- Publication type:
- Article
Clinical and biophysical characterization of 19 GJB1 mutations.
- Published in:
- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 11, p. 854, doi. 10.1002/acn3.347
- By:
- Publication type:
- Article
The involvement of supratentorial white matter in multiple system atrophy: a diffusion tensor imaging tractography study.
- Published in:
- Acta Neurologica Belgica, 2017, v. 117, n. 1, p. 213, doi. 10.1007/s13760-016-0724-0
- By:
- Publication type:
- Article
Increased gene dosage of myelin protein zero causes Charcot-Marie-Tooth disease.
- Published in:
- Annals of Neurology, 2012, v. 71, n. 1, p. 84, doi. 10.1002/ana.22658
- By:
- Publication type:
- Article
Reply.
- Published in:
- Annals of Neurology, 2002, v. 52, n. 2, p. 258, doi. 10.1002/ana.10271
- By:
- Publication type:
- Article
Spinocerebellar ataxia type 2 presenting as familial levodopa-responsive parkinsonism.
- Published in:
- 2001
- By:
- Publication type:
- journal article
Medical and Paramedical Care of Patients With Cerebellar Ataxia During the COVID-19 Outbreak: Seven Practical Recommendations of the COVID 19 Cerebellum Task Force.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00516
- By:
- Publication type:
- Article
Supratentorial and Infratentorial Lesions in Spinocerebellar Ataxia Type 3.
- Published in:
- Frontiers in Neurology, 2020, v. 11, p. 1, doi. 10.3389/fneur.2020.00124
- By:
- Publication type:
- Article
Congenital Insensitivity to Pain with Anhidrosis in Taiwan: A Morphometric and Genetic Study.
- Published in:
- European Neurology, 2004, v. 51, n. 4, p. 206, doi. 10.1159/000078487
- By:
- Publication type:
- Article
Peripheral Neuropathy of Machado-Joseph Disease in Taiwan: A Morphometric and Genetic Study.
- Published in:
- European Neurology, 2002, v. 48, n. 4, p. 210, doi. 10.1159/000066169
- By:
- Publication type:
- Article
COQ2 and SNCA polymorphisms interact with environmental factors to modulate the risk of multiple system atrophy and subtype disposition.
- Published in:
- European Journal of Neurology, 2022, v. 29, n. 10, p. 2956, doi. 10.1111/ene.15475
- By:
- Publication type:
- Article
Clinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy.
- Published in:
- PLoS ONE, 2016, v. 11, n. 1, p. 1, doi. 10.1371/journal.pone.0147677
- By:
- Publication type:
- Article
Intra- and Inter-Modular Connectivity Alterations in the Brain Structural Network of Spinocerebellar Ataxia Type 3.
- Published in:
- Entropy, 2019, v. 21, n. 3, p. 317, doi. 10.3390/e21030317
- By:
- Publication type:
- Article
A PIAS1 Protective Variant S510G Delays polyQ Disease Onset by Modifying Protein Homeostasis.
- Published in:
- Movement Disorders, 2022, v. 37, n. 4, p. 767, doi. 10.1002/mds.28896
- By:
- Publication type:
- Article
Novel SCA19/22‐associated KCND3 mutations disrupt human K<sub>V</sub>4.3 protein biosynthesis and channel gating.
- Published in:
- Human Mutation, 2019, v. 40, n. 11, p. 2088, doi. 10.1002/humu.23865
- By:
- Publication type:
- Article
Modeling spinocerebellar ataxias 2 and 3 with iPSCs reveals a role for glutamate in disease pathology.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-018-37774-2
- By:
- Publication type:
- Article
Xenografting of human umbilical mesenchymal stem cells from Wharton's jelly ameliorates mouse spinocerebellar ataxia type 1.
- Published in:
- Translational Neurodegeneration, 2019, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40035-019-0166-8
- By:
- Publication type:
- Article