Works matching DE "SPINOCEREBELLAR ataxia"
Results: 1738
Cross-talking noncoding RNAs contribute to cell-specific neurodegeneration in SCA7.
- Published in:
- Nature Structural & Molecular Biology, 2014, v. 21, n. 11, p. 955, doi. 10.1038/nsmb.2902
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- Publication type:
- Article
Inherited ataxia with slow saccades.
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- Journal of Postgraduate Medicine, 2012, v. 58, n. 4, p. 318, doi. 10.4103/0022-3859.105471
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- Publication type:
- Article
Alteraciones de los movimientos oculares sacádicos en las enfermedades poliglutamínicas.
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- Revista Mexicana de Neurociencia, 2013, v. 14, n. 3, p. 150
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- Article
Spinocerebellar ataxia type 6 presenting with hallucination.
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- Psychogeriatrics, 2021, v. 21, n. 3, p. 446, doi. 10.1111/psyg.12669
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- Publication type:
- Article
ConvNets for automatic detection of polyglutamine SCAs from brain MRIs: state of the art applications.
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- Medical & Biological Engineering & Computing, 2023, v. 61, n. 1, p. 1, doi. 10.1007/s11517-022-02714-w
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- Publication type:
- Article
Progress of macular atrophy during 30 months' follow-up in a patient with spinocerebellar ataxia type1 (SCA1).
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- Documenta Ophthalmologica, 2021, v. 142, n. 1, p. 87, doi. 10.1007/s10633-020-09782-z
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- Publication type:
- Article
Somatic instability of expanded CAG repeats of ATXN7 in Japanese patients with spinocerebellar ataxia type 7.
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- Documenta Ophthalmologica, 2015, v. 130, n. 3, p. 189, doi. 10.1007/s10633-015-9488-8
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- Article
Phenotypic spectrum of autosomal recessive retinitis pigmentosa without posterior column ataxia caused by mutations in the FLVCR1 gene.
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- Graefe's Archive of Clinical & Experimental Ophthalmology, 2019, v. 257, n. 3, p. 629, doi. 10.1007/s00417-018-04233-7
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- Publication type:
- Article
Insulin-like growth factor 2 (IGF2) protects against Huntington's disease through the extracellular disposal of protein aggregates.
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- Acta Neuropathologica, 2020, v. 140, n. 5, p. 737, doi. 10.1007/s00401-020-02183-1
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- Article
Restoring brain cholesterol turnover improves autophagy and has therapeutic potential in mouse models of spinocerebellar ataxia.
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- Acta Neuropathologica, 2019, v. 138, n. 5, p. 837, doi. 10.1007/s00401-019-02019-7
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- Publication type:
- Article
FTLD-ALS of TDP-43 type and SCA2 in a family with a full ataxin-2 polyglutamine expansion.
- Published in:
- 2014
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- Publication type:
- Report
Brain pathology of spinocerebellar ataxias.
- Published in:
- Acta Neuropathologica, 2012, v. 124, n. 1, p. 1, doi. 10.1007/s00401-012-1000-x
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- Publication type:
- Article
Omaveloxolone for the Treatment of Friedreich’s Ataxia.
- Published in:
- touchREVIEWS in Neurology, 2023, v. 19, n. 2, p. 10, doi. 10.17925/USN.2023.19.2.2
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- Publication type:
- Article
Sorting (Nexin-13) out Novel Insights into Endolysosomal Cholesterol Export.
- Published in:
- Contact (25152564), 2022, v. 5, p. 1, doi. 10.1177/25152564221114513
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- Publication type:
- Article
The genetic spectrum of a cohort of patients clinically diagnosed as Parkinson's disease in mainland China.
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- NPJ Parkinson's Disease, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41531-023-00518-9
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- Publication type:
- Article
Head-to-head comparison of 6 plasma biomarkers in early multiple system atrophy.
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- NPJ Parkinson's Disease, 2023, v. 9, n. 1, p. 1, doi. 10.1038/s41531-023-00481-5
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- Article
W ZESZYCIE.
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- Linguistic Guide / Poradnik Jezykowy, 2024, v. 813, n. 4, p. 7
- Publication type:
- Article
FUNKCJONOWANIE POWIĄZAŃ LEKSYKALNYCH U OSÓB Z CHOROBAMI NEURODEGENERACYJNYMI. DWA STUDIA PRZYPADKÓW: PACJENT Z ATAKSJĄ RDZENIOWO-MÓŻDŻKOWĄ TYPU 1 (SCA-1) ORAZ PACJENT Z CHOROBĄ PARKINSONA (CH. P.).
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- Linguistic Guide / Poradnik Jezykowy, 2024, v. 813, n. 4, p. 7, doi. 10.33896/PorJ.2024.4.1
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- Publication type:
- Article
Mutation analysis of 6 spinocerebellar ataxia (SCA) types in patients from southern Turkey.
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- Turkish Journal of Medical Sciences, 2015, v. 45, n. 6, p. 1228, doi. 10.3906/sag-1402-101
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- Publication type:
- Article
"Unraveling the Diagnostic Dilemma: Unusual Presentation of Huntington's Disease with Predominant Psychiatric Symptoms and Late-Onset Motor Manifestations".
- Published in:
- 2024
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- Publication type:
- Abstract
Huntington's disease-a case of early psychiatric symptoms and suicide.
- Published in:
- European Psychiatry, 2021, v. 64, p. S645, doi. 10.1192/j.eurpsy.2021.1713
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- Publication type:
- Article
Psychiatric symptoms in huntington's disease.
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- European Psychiatry, 2021, v. 64, p. S254, doi. 10.1192/j.eurpsy.2021.682
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- Publication type:
- Article
P-712 - Polg mutation in a patient with recurrent major depression, cardiomyopathy and ataxia
- Published in:
- 2012
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- Publication type:
- Abstract
Cell biology of spinocerebellar ataxia.
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- Journal of Cell Biology, 2012, v. 197, n. 2, p. 167, doi. 10.1083/jcb.201105092
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- Publication type:
- Article
Molecular spectrum, family screening and genetic counselling of Spinocerebellar Ataxia (SCA) cases in an Indian scenario.
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- Journal of Neurogenetics, 2021, v. 35, n. 4, p. 370, doi. 10.1080/01677063.2021.1940172
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- Publication type:
- Article
What we have learned from the next-generation sequencing: Contributions to the genetic diagnoses and understanding of pathomechanisms of neurodegenerative diseases.
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- Journal of Neurogenetics, 2015, v. 29, n. 2/3, p. 103, doi. 10.3109/01677063.2015.1060972
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- Publication type:
- Article
Clinical characteristics of combined cases of spinocerebellar ataxia types 6 and 31.
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- Journal of Neurogenetics, 2015, v. 29, n. 2/3, p. 80, doi. 10.3109/01677063.2015.1054992
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- Publication type:
- Article
Cerebellar morphometric and spectroscopic biomarkers for Machado-Joseph Disease.
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- Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01329-4
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- Publication type:
- Article
Neuropathology of SCA34 showing widespread oligodendroglial pathology with vacuolar white matter degeneration: a case study.
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- Acta Neuropathologica Communications, 2021, v. 9, n. 1, p. 1, doi. 10.1186/s40478-021-01272-w
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- Publication type:
- Article
Adult onset pan-neuronal human tau tubulin kinase 1 expression causes severe cerebellar neurodegeneration in mice.
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- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-01073-7
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- Publication type:
- Article
The blood-brain barrier is disrupted in Machado-Joseph disease/spinocerebellar ataxia type 3: evidence from transgenic mice and human post-mortem samples.
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- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. N.PAG, doi. 10.1186/s40478-020-00955-0
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- Publication type:
- Article
A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy.
- Published in:
- Acta Neuropathologica Communications, 2020, v. 8, n. 1, p. 1, doi. 10.1186/s40478-020-00975-w
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- Publication type:
- Article
Brain hypometabolism in rare genetic neurodegenerative disease: Niemann-Pick disease type C, spinocerebellar ataxia and Huntington disease assessed by FDG PET.
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- Asia Oceania Journal of Nuclear Medicine & Biology, 2021, v. 9, n. 2, p. 167, doi. 10.22038/AOJNMB.2020.52511.1362
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- Publication type:
- Article
Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia.
- Published in:
- Brain Sciences (2076-3425), 2025, v. 15, n. 2, p. 156, doi. 10.3390/brainsci15020156
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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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- Publication type:
- Article
On the Cut-Off Value of the Anteroposterior Diameter of the Midbrain Atrophy in Spinocerebellar Ataxia Type 2 Patients.
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- Brain Sciences (2076-3425), 2024, v. 14, n. 1, p. 53, doi. 10.3390/brainsci14010053
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- Publication type:
- Article
The Impact of Demographic and Clinical Factors on the Quality of Life in Patients with Neurodegenerative Cerebellar Ataxias.
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- Brain Sciences (2076-3425), 2024, v. 14, n. 1, p. 1, doi. 10.3390/brainsci14010001
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- Publication type:
- Article
Multiple Independent Gene Disorders Causing Bardet–Biedl Syndrome, Congenital Hypothyroidism, and Hearing Loss in a Single Indian Patient.
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- 2023
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- Publication type:
- Case Study
Heterogenous Genetic, Clinical, and Imaging Features in Patients with Neuronal Intranuclear Inclusion Disease Carrying NOTCH2NLC Repeat Expansion.
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- Brain Sciences (2076-3425), 2023, v. 13, n. 6, p. 955, doi. 10.3390/brainsci13060955
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- Publication type:
- Article
"Corp-Osa-Mente", a Combined Psychosocial–Neuropsychological Intervention for Adolescents and Young Adults with Fragile X Syndrome: An Explorative Study.
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- Brain Sciences (2076-3425), 2023, v. 13, n. 2, p. 277, doi. 10.3390/brainsci13020277
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- Publication type:
- Article
Neurological Erdheim–Chester Disease Manifesting with Subacute or Progressive Cerebellar Ataxia: Novel Case Series and Review of the Literature.
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- Brain Sciences (2076-3425), 2023, v. 13, n. 1, p. 26, doi. 10.3390/brainsci13010026
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- Publication type:
- Article
Pathogenesis of Huntington's Disease: An Emphasis on Molecular Pathways and Prevention by Natural Remedies.
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- Brain Sciences (2076-3425), 2022, v. 12, n. 10, p. 1389, doi. 10.3390/brainsci12101389
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- Publication type:
- Article
Rare Etiologies in Immune-Mediated Cerebellar Ataxias: Diagnostic Challenges.
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- Brain Sciences (2076-3425), 2022, v. 12, n. 9, p. 1165, doi. 10.3390/brainsci12091165
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- Publication type:
- Article
Memantine Disrupts Motor Coordination through Anxiety-like Behavior in CD1 Mice.
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- Brain Sciences (2076-3425), 2022, v. 12, n. 4, p. 495, doi. 10.3390/brainsci12040495
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- Publication type:
- Article
The Clinical Concept of LTDpathy: Is Dysregulated LTD Responsible for Prodromal Cerebellar Symptoms?
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- Brain Sciences (2076-3425), 2022, v. 12, n. 3, p. 303, doi. 10.3390/brainsci12030303
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- Publication type:
- Article
A Novel SETX Mutation in a Taiwanese Patient with Autosomal Recessive Cerebellar Ataxia Detected by Targeted Next-Generation Sequencing, and a Literature Review.
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- Brain Sciences (2076-3425), 2022, v. 12, n. 2, p. 173, doi. 10.3390/brainsci12020173
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- Publication type:
- Article
Upper and Lower Limb Movement Kinematics in Aging FMR1 Gene Premutation Carriers.
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- Brain Sciences (2076-3425), 2021, v. 11, n. 1, p. 13, doi. 10.3390/brainsci11010013
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- Publication type:
- Article
Special Issue: Juvenile Onset Huntington's Disease.
- Published in:
- 2020
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- Publication type:
- Editorial
Autonomic Changes in Juvenile-Onset Huntington's Disease.
- Published in:
- Brain Sciences (2076-3425), 2020, v. 10, n. 9, p. 589, doi. 10.3390/brainsci10090589
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- Publication type:
- Article
Therapeutic Advances for Huntington's Disease.
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- Brain Sciences (2076-3425), 2020, v. 10, n. 1, p. 43, doi. 10.3390/brainsci10010043
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- Publication type:
- Article