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Clinical whole Exome Sequencing Reveals Novel Homozygous Missense Variant in the PMPCA Gene causing Autosomal Recessive Spinocerebellar Ataxia.
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- Pakistan Journal of Medical Sciences, 2024, v. 40, n. 10, p. 2243, doi. 10.12669/pjms.40.10.10474
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- Article
Preferences for genetic interventions for SCA and Huntington's disease: results of a discrete choice experiment among patients.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, p. 1, doi. 10.1186/s13023-024-03408-2
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- Article
Neuropsychiatric Manifestations of Degenerative Cerebellar Ataxia.
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- Brain Sciences (2076-3425), 2024, v. 14, n. 10, p. 1003, doi. 10.3390/brainsci14101003
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- Article
A novel KCNC3 gene variant in the voltage-dependent Kv3.3 channel in an atypical form of SCA13 with dominant central vertigo.
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- Frontiers in Cellular Neuroscience, 2024, p. 1, doi. 10.3389/fncel.2024.1441257
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- Article
Supplementary Material.
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- Frontiers in Cellular Neuroscience, 2024, p. 1
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- Article
Progressive symmetric erythrokeratodermia with spinocerebellar ataxia due to ELOVL4 mutation in a Chinese family.
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- Indian Journal of Dermatology, Venereology & Leprology, 2022, v. 88, n. 1, p. 132, doi. 10.25259/IJDVL_488_20
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- Article
Oxidative stress‐A direct bridge to central nervous system homeostatic dysfunction and Alzheimer's disease.
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- Cell Biochemistry & Function, 2022, v. 40, n. 1, p. 17, doi. 10.1002/cbf.3673
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- Article
Structural alterations of spinocerebellar ataxias type 3: from pre-symptomatic to symptomatic stage.
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- European Radiology, 2023, v. 33, n. 4, p. 2881, doi. 10.1007/s00330-022-09214-3
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- Article
Tau Tubulin Kinase TTBK2 Sensitivity of Glutamate Receptor GluK2.
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- Cellular Physiology & Biochemistry (Karger AG), 2016, v. 39, n. 4, p. 1444, doi. 10.1159/000447847
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- Article
Modest Reduction in CAG Repeat Length Rescues Motor Deficits but Not Purkinje Cell Pathology and Gliosis in Spinocerebellar Ataxia Type 1 Mice.
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- Neuroglia, 2023, v. 4, n. 1, p. 52, doi. 10.3390/neuroglia4010005
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- Article
Neurological disorders: Identifying pathogenic pathways.
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- Nature Reviews Drug Discovery, 2013, v. 12, n. 7, p. 506, doi. 10.1038/nrd4061
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- Article
Case of congenital fibrosis of the extraocular muscles type 1 with progressive cerebellar ataxia.
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- 2018
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- Case Study
Holmes' tremor caused by coexisting Parkinson's disease in a case of spinocerebellar ataxia type 31.
- Published in:
- Neurology & Clinical Neuroscience, 2017, v. 5, n. 2, p. 71, doi. 10.1111/ncn3.12114
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- Article
Spinocerebellar ataxia type 14 family with a novel PRKCG mutation.
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- Neurology & Clinical Neuroscience, 2016, v. 4, n. 5, p. 199, doi. 10.1111/ncn3.12070
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- Article
Whole-exome sequencing reveals a missense mutation in the KCND3 gene in a patient with SCA19/22.
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- Neurology & Clinical Neuroscience, 2015, v. 3, n. 5, p. 197, doi. 10.1111/ncn3.12004
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- Article
Vignette of a Child with Developmental Regression, Seizures, and Combined Disorders of Movement.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 9, p. 1153, doi. 10.1002/mdc3.14127
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- Article
Correction to "Gerstmann‐Sträussler‐Scheinker Disease Presenting as Late‐Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology".
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 9, p. 1177, doi. 10.1002/mdc3.14058
- Publication type:
- Article
Exploring the Pathogenicity of SETX I1942T Variant in Ataxia with Oculomotor Apraxia Type 2 Through Segregation Analysis.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 8, p. 1041, doi. 10.1002/mdc3.14128
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- Article
Expanding the Phenotypic Variability of PMPCA‐Related Ataxia.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 7, p. 894, doi. 10.1002/mdc3.14057
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- Article
RFC1 and FGF14 Repeat Expansions in Serbian Patients with Cerebellar Ataxia.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 6, p. 626, doi. 10.1002/mdc3.14020
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- Article
A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 6, p. 746, doi. 10.1002/mdc3.14025
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- Publication type:
- Article
Tongue Protrusion and Feeding Dystonia Can Develop in PPP2R2B‐Related Spinocerebellar Ataxia.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 5, p. 578, doi. 10.1002/mdc3.14014
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- Publication type:
- Article
Gerstmann‐Sträussler‐Scheinker Disease Presenting as Late‐Onset Slowly Progressive Spinocerebellar Ataxia, and Comparative Case Series with Neuropathology.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 4, p. 411, doi. 10.1002/mdc3.13976
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- Article
Abstracts.
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- Movement Disorders Clinical Practice, 2024, v. 11, p. S10, doi. 10.1002/mdc3.13966
- Publication type:
- Article
Cranial Nerve Thinning Distinguishes RFC1‐Related Disorder from Other Late‐Onset Ataxias.
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- Movement Disorders Clinical Practice, 2024, v. 11, n. 1, p. 45, doi. 10.1002/mdc3.13930
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- Article
Spinocerebellar Ataxia Type 6 and Japanese Immigration to Brazil.
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 11, p. 1703, doi. 10.1002/mdc3.13888
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- Article
New Horizons on the Diagnosis of Hereditary Ataxia.
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 11, p. 1597, doi. 10.1002/mdc3.13877
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- Article
Autosomal Recessive Cerebellar Ataxias: New Acronyms, Old Eponyms, and the Butterfly Life Cycle.
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 9, p. 1297, doi. 10.1002/mdc3.13835
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- Article
Ataxia due to a COQ8A Novel Variant in Primary Coenzyme Q10 Deficiency.
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- Movement Disorders Clinical Practice, 2023, v. 10, p. S41, doi. 10.1002/mdc3.13781
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- Article
Oculomotor Apraxia as an Early Presenting Sign of Juvenile‐Onset Huntington's Disease.
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- Movement Disorders Clinical Practice, 2023, v. 10, p. S12, doi. 10.1002/mdc3.13775
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- Article
Seeing What Is Not There: Revisiting a Diagnostic Conundrum in the Clinic.
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- Movement Disorders Clinical Practice, 2023, v. 10, p. S54, doi. 10.1002/mdc3.13767
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- Article
Lower Facial Dystonia: An Unexpected Presentation Associated with Pathogenic RFC1 Repeat Expansions.
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 7, p. 1150, doi. 10.1002/mdc3.13730
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- Article
Dystonia as Presenting Feature of Compound Heterozygous PMPCA Gene Variants.
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 6, p. 1020, doi. 10.1002/mdc3.13749
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- Article
Spasmodic Dysphonia in a Patient with Spinocerebellar Ataxia Associated with a Rare AFG3L2 Variant (ATX‐AFG3L2).
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 6, p. 1024, doi. 10.1002/mdc3.13745
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- Article
Spinocerebellar Ataxia 36 is a Frequent Cause of Hereditary Ataxia in Eastern Spain.
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 6, p. 992, doi. 10.1002/mdc3.13740
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- Article
Spinocerebellar Ataxia Type 35 Caused by a New TGM6 Variant: Video Documentation of a German Family.
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 6, p. 1016, doi. 10.1002/mdc3.13717
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- Article
Neurodegeneration, Ataxia, Dystonia, and Gaze Palsy (NADGP) Syndrome with Nocturnal Paroxysmal Head Tremor.
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 5, p. 835, doi. 10.1002/mdc3.13697
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- Article
Rapidly Progressive Atypical Parkinsonism as a Presenting Feature of ATX‐CACNA1G (SCA42).
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 4, p. 713, doi. 10.1002/mdc3.13704
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- Article
Detection of ATXN2 Expansions in an Exome Dataset: An Underdiagnosed Cause of Parkinsonism.
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 4, p. 664, doi. 10.1002/mdc3.13699
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- Article
Isolated Dystonia as an Initial Presentation of GDAP2‐Related Disorder.
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 4, p. 710, doi. 10.1002/mdc3.13682
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- Article
Abstracts.
- Published in:
- Movement Disorders Clinical Practice, 2023, v. 10, p. S9, doi. 10.1002/mdc3.13679
- Publication type:
- Article
Demographics and Clinical Characteristics of Autosomal Dominant Spinocerebellar Ataxia in Canada.
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 3, p. 440, doi. 10.1002/mdc3.13666
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- Article
A Mild Form of Neurodegeneration with Brain Iron Accumulation attributed to Coenzyme A Synthase Mutation.
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 2, p. 331, doi. 10.1002/mdc3.13624
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- Article
PSP‐Like Phenotype in Genetically Confirmed SCA12.
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- Movement Disorders Clinical Practice, 2023, v. 10, n. 2, p. 326, doi. 10.1002/mdc3.13590
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- Publication type:
- Article
Think of SCA45 in Late‐Onset Familial Ataxias: The First Report from the Indian Subcontinent with a Novel Variant.
- Published in:
- Movement Disorders Clinical Practice, 2022, v. 9, n. 8, p. 1140, doi. 10.1002/mdc3.13580
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- Article
A Systematic Review of the Spectrum and Prevalence of Non‐Motor Symptoms in Adults with Hereditary Cerebellar Ataxias.
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- Movement Disorders Clinical Practice, 2022, v. 9, n. 8, p. 1027, doi. 10.1002/mdc3.13532
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- Publication type:
- Article
The "Hot Cross Bun Sign" in Spinocerebellar Ataxia Types 2 and 7–Case Reports and Review of Literature.
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- Movement Disorders Clinical Practice, 2022, v. 9, n. 8, p. 1105, doi. 10.1002/mdc3.13550
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- Article
Prolonged Episodic Dystonia in Tyrosine Hydroxylase Deficiency Due to Homozygous c.698G>A (p.Arg233His) Mutation‐A Diagnostic Challenge.
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- Movement Disorders Clinical Practice, 2022, v. 9, n. 8, p. 1136, doi. 10.1002/mdc3.13522
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- Article
Hot Cross Bun Sign in Progressive Ataxia with ELOVL4 Mutation—Case Report.
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- Movement Disorders Clinical Practice, 2022, v. 9, n. 8, p. 1114, doi. 10.1002/mdc3.13447
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- Article
Levodopa Responsive Dystonia Parkinsonism, Intellectual Disability, and Optic Atrophy Due to a Heterozygous Missense Variant in AFG3L2.
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- Movement Disorders Clinical Practice, 2022, v. 9, p. S32, doi. 10.1002/mdc3.13538
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- Article