Ataxias

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on different types of ataxias here.

January 21, 2022

A Missed Case of Area Postrema Syndrome Presenting with Neuromyelitis Optica Spectrum Disorder.

The American Journal of Case Reports
Faisal KhanMunmun Aziz
January 21, 2022

Frequency and clinical correlates of anti-nerve antibodies in a large population of CIDP patients included in the Italian database.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
Giuseppe LiberatoreEduardo Nobile-Orazio
January 21, 2022

An in-silico analysis to identify structural, functional and regulatory role of SNPs in hMRE11.

Journal of Biomolecular Structure & Dynamics
Bhoomi Tarapara, Franky Shah
January 21, 2022

Reply to: "Microvascular Breakdown Due to Retinal Neurodegeneration in Ataxias".

Movement Disorders : Official Journal of the Movement Disorder Society
Fernando Spina TensiniHélio Afonso Ghizoni Teive
January 21, 2022

Magnetic Resonance Imaging-Guided Focused Ultrasound Thalamotomy in Spinocerebellar Ataxia Type 12.

Movement Disorders : Official Journal of the Movement Disorder Society
Veronika PurrerValeri Borger
January 20, 2022
Preprint
Open Access

Linking Dynamic DNA Secondary Structures to Genome Instability

BioRxiv : the Preprint Server for Biology
Andre nussenzweigS. M. Mirkin
January 20, 2022

Impaired oligodendrocyte maturation is an early feature in SCA3 disease pathogenesis.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience
Kristen H SchusterHayley S McLoughlin
January 20, 2022

Integrated genome and transcriptome analyses reveal the mechanism of genome instability in ataxia with oculomotor apraxia 2.

Proceedings of the National Academy of Sciences of the United States of America
Radhakrishnan KanagarajStephen C West
January 20, 2022
Open Access

Phenotypic heterogeneity in patients with NEFL-related Charcot-Marie-Tooth disease.

Molecular Genetics & Genomic Medicine
Hye Jin KimByung-Ok Choi
January 19, 2022

Cryo-EM Structure of AMP-PNP-bound Human Mitochondrial ATP-binding cassette transporter ABCB7.

Journal of Structural Biology
Qinqin YanXue Yang
January 19, 2022

[Diversity of CACNA1A-related disorders].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
G E RudenskayaO A Shchagina
January 19, 2022

[Spinocerebellar ataxia 17: full phenotype in a 42 CAG/CAA-repeats carrier].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
D V IS N Illarioshkin
January 19, 2022
Review

The Cerebellum in Niemann-Pick C1 Disease: Mouse Versus Man.

The Cerebellum
Maria Teresa FiorenzaRobert P Erickson
January 18, 2022

How to Detect Isolated PEX10-Related Cerebellar Ataxia?

Neuropediatrics
Esmeralda NavaEugen Boltshauser
January 17, 2022

Mice harboring the FXN I151F pathological point mutation present decreased frataxin levels, a Friedreich ataxia-like phenotype, and mitochondrial alterations.

Cellular and Molecular Life Sciences : CMLS
Marta Medina-CarboneroJordi Tamarit

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