Ataxia telangiectasia

Ataxia telangiectasia is a rare neurodegenerative diseases caused by defects in the ATM gene, which is involved in DNA damage recognition and repair pathways. Here is the latest research on this autosomal recessive disease.

September 14, 2020

Effects of cerebellar transcranial magnetic stimulation on ataxias: A randomized trial

Parkinsonism & Related Disorders
Carina FrançaRubens G Cury
September 17, 2020

Cortical Cerebellar Atrophy and Idiopathic Cerebellar Ataxia: Nomenclature and Diagnostic Approach

Brain and nerve = Shinkei kenkyū no shinpo
Kunihiro Yoshida
September 4, 2020

Clinical analysis of 4 cases of Wernekink commissure syndrome

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences
Li XuXiaolin Liu
September 15, 2020
Review
Open Access

Essential tremor: the most common form of cerebellar degeneration?

Cerebellum & Ataxias
Elan D Louis, Phyllis L Faust
September 6, 2020
Review

Molecular profiling of neuroendocrine tumours to predict response and toxicity to peptide receptor radionuclide therapy

The Lancet Oncology
Lisa BodeiIrvin M Modlin
September 11, 2020
Open Access

A Novel Oral Astaxanthin Nanoemulsion from Haematococcus pluvialis Induces Apoptosis in Lung Metastatic Melanoma

Oxidative Medicine and Cellular Longevity
Hsing-Yu HaungHui-Min David Wang
September 12, 2020
Open Access

Cardiac phenotype in ATP1A3 -related syndromes: A multicentre cohort study

Neurology
Simona BalestriniSanjay M Sisodiya
September 11, 2020
Review
Open Access

En Guard! The Interactions between Adenoviruses and the DNA Damage Response

Viruses
Tamar Kleinberger
September 17, 2020
Open Access

Mouse Ataxin-2 Expansion Downregulates CamKII and Other Calcium Signaling Factors, Impairing Granule-Purkinje Neuron Synaptic Strength

International Journal of Molecular Sciences
Aleksandar ArsovićGeorg Auburger
September 17, 2020

Neuropathology of Cerebellar Cortical Atrophy

Brain and nerve = Shinkei kenkyū no shinpo
Shunsuke Koga
September 9, 2020

ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children

Developmental Medicine and Child Neurology
Masayuki SasakiNaomichi Matsumoto
September 3, 2020

Clinical spectrum of the pentanucleotide repeat expansion in the RFC1 gene in ataxia syndromes

Neurology
Maria GisatulinNorbert Brüggemann
September 5, 2020
Case Report
Open Access

Understanding What You Have Found: A Family With a Mutation in the LAMA1 Gene With Literature Review

Clinical Medicine Insights. Case Reports
Muhsin ElmasMustafa Solak
September 11, 2020
Open Access

CANVAS: a late onset ataxia due to biallelic intronic AAGGG expansions

Journal of Neurology
Natalia DominikHenry Houlden
September 18, 2020

Biallelic intronic AAGGG expansion of RFC1 is related to multiple system atrophy

Annals of Neurology
Linlin WanHong Jiang

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