Long‐Term Nicotinamide Riboside Use Improves Coordination and Eye Movements in Ataxia Telangiectasia

The natural history of ataxia-telangiectasia (A-T): A systematic review

(2022) Emily Petley et al.   PLoS One

The hallmarks of aging in Ataxia-Telangiectasia

(2022) Julio Aguado et al.   AGEING RESEARCH REVIEWS

Scale for the assessment and rating of ataxia: Age‐dependent performance of healthy adults

(2022) Marcus Grobe‐Einsler et al.   EUROPEAN JOURNAL OF NEUROLOGY

NICOTINAMIDE RIBOSIDE FOR ATAXIA TELANGIECTASIA: REPORT OF AN EARLY TREATED INDIVIDUAL

(2022) Katja Steinbruecker et al.   NEUROPEDIATRICS

Stabilization and quantitative measurement of nicotinamide adenine dinucleotide in human whole blood using dried blood spot sampling

(2022) Ryo Matsuyama et al.   ANALYTICAL AND BIOANALYTICAL CHEMISTRY

Neurofilament Light Chain Is a Biomarker of Neurodegeneration in Ataxia Telangiectasia

(2021) H. Donath et al.   CEREBELLUM

Neurofilament light chain: A novel blood biomarker in patients with ataxia telangiectasia

(2021) S.J.G. Veenhuis et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Nicotinamide Riboside Improves Ataxia Scores and Immunoglobulin Levels in Ataxia Telangiectasia

(2021) Stefanie J.G. Veenhuis et al.   MOVEMENT DISORDERS

Multidisciplinary Management of Ataxia Telangiectasia: Current Perspectives

(2021) Sharon A McGrath-Morrow et al.   Journal of Multidisciplinary Healthcare

Historical Controls in Randomized Clinical Trials: Opportunities and Challenges

(2020) Kathryn T. Hall et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

NAD+ in Brain Aging and Neurodegenerative Disorders

(2019) Sofie Lautrup et al.   Cell Metabolism

Progressive Liver Disease in Patients With Ataxia Telangiectasia

(2019) Helena Donath et al.   Frontiers in Pediatrics

A randomized placebo-controlled clinical trial of nicotinamide riboside in obese men: safety, insulin-sensitivity, and lipid-mobilizing effects

(2018) Ole L Dollerup et al.   AMERICAN JOURNAL OF CLINICAL NUTRITION

Construct Validity and Reliability of the SARA Gait and Posture Sub-scale in Early Onset Ataxia

(2017) Tjitske F. Lawerman et al.   Frontiers in Human Neuroscience

NAD + Replenishment Improves Lifespan and Healthspan in Ataxia Telangiectasia Models via Mitophagy and DNA Repair

(2016) Evandro Fei Fang et al.   Cell Metabolism

Longitudinal analysis of the neurological features of ataxia-telangiectasia

(2016) Thomas J Jackson et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Development of global rating instruments for pediatric patients with ataxia telangiectasia

(2016) Andreea Nissenkorn et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Variant ataxia-telangiectasia presenting as primary-appearing dystonia in Canadian Mennonites

(2012) R. Saunders-Pullman et al.   NEUROLOGY

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study

(2011) Mijke M. M. Verhagen et al.   HUMAN MUTATION

ATM Activation by Oxidative Stress

(2010) Z. Guo et al.   SCIENCE

Functional and computational assessment of missense variants in the ataxia-telangiectasia mutated (ATM) gene: mutations with increased cancer risk

(2008) M. Mitui et al.   HUMAN MUTATION