Ataxias (MDS)

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 ataxia here.

August 2, 2021
Preprint
Open Access

Integrated whole exome sequencing and functional approach delineate genetic heterogeneity in cerebellar ataxias

ResearchSquare
Renu KumariMohammed Faruq
August 3, 2021

Fetal brain arrest broadens the spectrum of WDR81-related developmental brain malformations.

Neurogenetics
Mohamed S Abdel-HamidGhada M H Abdel-Salam
August 3, 2021

Itpr1 regulates the formation of anterior eye segment tissues derived from neural crest cells.

Development
Akira KinoshitaKoh-Ichiro Yoshiura
August 3, 2021

The incidence and type of cancer in patients with ataxia-telangiectasia via a retrospective single-centre study.

British Journal of Haematology
Shahrzad BakhtiarStefan Zielen
August 3, 2021

Miglustat Therapy for SCARB2-Associated Action Myoclonus-Renal Failure Syndrome.

Neurology. Genetics
Imran H QuraishiLawrence J Hirsch
August 3, 2021
Open Access

Cardiopulmonary (No Ventilation) and Anesthetic Effects of Dexmedetomidine-Tiletamine in Dogs.

Frontiers in Veterinary Science
Zhiheng ZhangLi Gao
August 2, 2021
Case Report
Open Access

A Case Report on Primary Central Nervous System Lymphoma in Immunocompetent Individual.

Curēus
Shobha MandalJoyson Poulose
August 2, 2021
Open Access

Longitudinal Evaluation of Cerebellar Signs of H-ABC Tubulinopathy in a Patient and in the taiep Model.

Frontiers in Neurology
Milvia AlataVictor H Hernandez
August 2, 2021
Case Report

Sporadic Creutzfeldt-Jakob disease: A case report.

The American Journal of Emergency Medicine
Parnia SalehiAbhijit Patil
August 2, 2021

Expanding the phenotype of AFG3L2 mutations: Late-onset autosomal recessive spinocerebellar ataxia.

Journal of the Neurological Sciences
Han-Lin ChiangYi-Chung Lee
August 1, 2021

Increased α-tocopherol metabolism in horses with equine neuroaxonal dystrophy.

Journal of Veterinary Internal Medicine
Erin N HalesCarrie J Finno
July 31, 2021

Attention deficit hyperactivity disorder: a rare clinical presentation of L-2-hydroxyglutaric aciduria.

BMJ Case Reports
Jithin GeorgeSoumya Sundaram

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