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Comment to: "SCA4 Unravelled After More than 25 Years Using Advanced Genomic Technologies".
- Published in:
- Movement Disorders, 2024, v. 39, n. 6, p. 1077, doi. 10.1002/mds.29827
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- Article
Neuropathy with Cerebral Features Induced by Nitrous Oxide Abuse—A Case Report.
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- Toxics, 2023, v. 11, n. 12, p. 959, doi. 10.3390/toxics11120959
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- Article
An E280K Missense Variant in KCND3 /Kv4.3—Case Report and Functional Characterization.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 13, p. 10924, doi. 10.3390/ijms241310924
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- Article
Expanding the etiologic spectrum of spastic ataxia syndrome: chronic infection with human T lymphotropic virus type 1.
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- Journal of NeuroVirology, 2021, v. 27, n. 2, p. 345, doi. 10.1007/s13365-020-00932-2
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- Article
Hyperkinesias and Echolalia in Primary Familial Brain Calcification.
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- Annals of Neurology, 2021, v. 89, n. 2, p. 418, doi. 10.1002/ana.25955
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- Article
Proenkephalin Decreases in Cerebrospinal Fluid with Symptom Progression of Huntington's Disease.
- Published in:
- Movement Disorders, 2021, v. 36, n. 2, p. 481, doi. 10.1002/mds.28391
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- Article
A Novel Duplication in ATXN2 as Modifier for Spinocerebellar Ataxia 3 (SCA3) and C9ORF72‐ALS.
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- Movement Disorders, 2021, v. 36, n. 2, p. 508, doi. 10.1002/mds.28334
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- Article
Rare variants in dynein heavy chain genes in two individuals with situs inversus and developmental dyslexia: a case report.
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- BMC Medical Genetics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12881-020-01020-2
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- Article
Progressive Ataxia with Elevated Alpha-Fetoprotein: Diagnostic Issues and Review of the Literature.
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- Tremor & Other Hyperkinetic Movements, 2019, p. 1, doi. 10.7916/tohm.v0.708
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- Article
Novel Imaging Biomarkers for Huntington’s Disease and Other Hereditary Choreas.
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- Current Neurology & Neuroscience Reports, 2018, v. 18, n. 12, p. 1, doi. 10.1007/s11910-018-0890-y
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- Article
Pathological Study of a FMR1 Premutation Carrier With Progressive Supranuclear Palsy.
- Published in:
- Frontiers in Genetics, 2018, p. N.PAG, doi. 10.3389/fgene.2018.00317
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- Article
Novel Features and Abnormal Pattern of Cerebral Glucose Metabolism in Spinocerebellar Ataxia 19.
- Published in:
- Cerebellum, 2018, v. 17, n. 4, p. 465, doi. 10.1007/s12311-018-0927-4
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- Article
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
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- 2017
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- Publication type:
- journal article
A KCNC3 mutation causes a neurodevelopmental, non-progressive SCA13 subtype associated with dominant negative effects and aberrant EGFR trafficking.
- Published in:
- PLoS ONE, 2017, v. 12, n. 5, p. 1, doi. 10.1371/journal.pone.0173565
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- Article
POLG-Associated Ataxia Presenting as a Fragile X Tremor/Ataxia Phenocopy Syndrome.
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- Cerebellum, 2016, v. 15, n. 5, p. 632, doi. 10.1007/s12311-016-0777-x
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- Publication type:
- Article
PSP-CBS with Dopamine Deficiency in a Female with a FMR1 Premutation.
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- Cerebellum, 2016, v. 15, n. 5, p. 636, doi. 10.1007/s12311-016-0793-x
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- Article
Hypospadias as a novel feature in spinal bulbar muscle atrophy.
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- Journal of Neurology, 2016, v. 263, n. 4, p. 703, doi. 10.1007/s00415-016-8038-y
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- Article
Concomitant Facioscapulohumeral Muscular Dystrophy and Parkinsonism Mimicking Multiple System Atrophy.
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- Movement Disorders Clinical Practice, 2016, v. 3, n. 2, p. 194, doi. 10.1002/mdc3.12247
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- Article
Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export.
- Published in:
- Nature Genetics, 2015, v. 47, n. 6, p. 579, doi. 10.1038/ng.3289
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- Article
Novel APTX Mutation in a Hispanic Subject Affected by Ataxia with Oculomotor Apraxia Type 1.
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- Movement Disorders Clinical Practice, 2015, v. 2, n. 1, p. 90, doi. 10.1002/mdc3.12112
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- Publication type:
- Article
Impact of Imiglucerase Supply Shortage on Clinical and Laboratory Parameters in Norrbottnian Patients with Gaucher Disease Type 3.
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- Archivum Immunologiae & Therapiae Experimentalis, 2015, v. 63, n. 1, p. 65, doi. 10.1007/s00005-014-0308-8
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- Article
<i>De Novo</i> Mutations in Ataxin-2 Gene and ALS Risk.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0070560
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- Article
Persistence of viral RNA in the brain of offspring to mice infected with influenza A/WSN/33 virus during pregnancy.
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- Journal of NeuroVirology, 2002, v. 8, n. 4, p. 353, doi. 10.1080/13550280290100480
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- Publication type:
- Article