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Last Updated: 03/06/2025
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Found 6930 publications
Clinical and Genetic Analyses of SPG7 in Japanese Patients with Undiagnosed Ataxia.
Journal: Internal medicine (Tokyo, Japan)
Published: February 02, 2025
A case of L-2-hydroxyglutaric aciduria diagnosed with involuntary movements, in which improvement in motor symptoms was achieved following treatment
Journal: Rinsho shinkeigaku = Clinical neurology
Published: January 29, 2025
Post-infectious acute cerebellar ataxia in a young adult.
Journal: BMJ case reports
Published: January 27, 2025
Viral vector-mediated SLC9A6 gene replacement reduces cerebellar dysfunction in the shaker rat model of Christianson syndrome.
Journal: bioRxiv : the preprint server for biology
Published: January 27, 2025
Neurovisual Training With Acoustic Feedback: An Innovative Approach for Nystagmus Rehabilitation.
Journal: Archives of rehabilitation research and clinical translation
Published: January 17, 2025
Delayed Progression of Ataxia with a Static Cerebellar Lesion- Consider SCA27B.
Journal: Cerebellum (London, England)
Published: January 07, 2025
Arv1; a "Mover and Shaker" of Subcellular Lipids.
Journal: Contact (Thousand Oaks (Ventura County, Calif.))
Published: January 05, 2025
Expert commentary for: A challenging case of cerebellar ataxia associated with orofacial dominant chorea.
Journal: Parkinsonism & related disorders
Published: December 29, 2024
Ocular Telangiectasia and Cerebellar Atrophy in Ataxia-Telangiectasia (Louis-Bar Syndrome).
Journal: Tremor and other hyperkinetic movements (New York, N.Y.)
Published: December 29, 2024
A Japanese Family with a Novel Pathogenic Variant in KIF1A Presenting with Spastic Paraparesis, Cerebellar Ataxia, and Intellectual Disability.
Journal: Cerebellum (London, England)
Published: December 23, 2024
Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia as a Presentation of a Novel DNMT1 Mutation.
Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia as a Presentation of a Novel DNMT1 Mutation.
Journal: Cerebellum (London, England)
Published: December 19, 2024
Last Updated: 03/06/2025