Multiparametric cerebellar imaging and clinical phenotype in childhood ataxia telangiectasia
NeuroImage: Clinical, 2020 Background: Ataxia Telangiectasia (A-T) is an inherited multisystem disorder with cerebellar neurodegeneration. The relationships between imaging metrics of cerebellar health and neurological function across childhood in A-T are unknown, but may be ...
Rob A Dineen +9 more
doaj +1 more source
Supplementary Data from First-in-Human Trial of the Oral Ataxia Telangiectasia and RAD3-Related (ATR) Inhibitor BAY 1895344 in Patients with Advanced Solid Tumors [PDF]
, 2023 Timothy A. Yap +23 more
openalex +1 more source
CRISPR Enabled Precision Oncology: From Gene Editing to Tumor Microenvironment Remodeling
Med Research, EarlyView.CRISPR technology has progressed from a prokaryotic immune system to a diverse suite of editing platforms, including Cas nucleases, base and prime editors, and RNA‐targeting enzymes. These advances enable precise genomic and epigenomic interventions, high‐throughput functional screening, and immune engineering.
Kailai Li +8 more
wiley +1 more source
Ataxia-telangiectasia: case series review from Centro Hospitalar Universitário do Santo António [PDF]
, 2023 Carlota Gomes de Almeida, Laura Marques
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Nuclear Alpha‐Synuclein: Mechanisms and Implications for Synucleinopathies
Movement Disorders, EarlyView.Abstract Alpha‐synuclein (aSyn), historically studied for its synaptic functions and central role in Lewy body pathology, is emerging as a protein with significant nuclear activities relevant to Parkinson's disease (PD) and related synucleinopathies. Recent advances reveal that aSyn dynamically localizes to neuronal nuclei in both health and disease ...
Tiago Fleming Outeiro, David J. Koss
wiley +1 more source
The FEBS Journal, 2016 Ataxia telangiectasia (A‐T) is a rare incurable neurodegenerative disease caused by biallelic mutations in the gene for ataxia‐telangiectasia mutated (ATM).
S. Biagiotti +9 more
semanticscholar +1 more source
Interventional oncology in children: Where are we now?
Journal of Medical Imaging and Radiation Oncology, EarlyView.Abstract Paediatric Interventional Oncology (IO) lags behind adult IO due to a scarcity of specific outcome data. The suboptimal way to evolve this field is relying heavily on adult experiences. The distinct tumour types prevalent in children, such as extracranial germ cell tumours, sarcomas, and neuroblastoma, differ strongly from those found in ...
Premal Amrishkumar Patel +1 more
wiley +1 more source
Motor pathway degeneration in young ataxia telangiectasia patients: A diffusion tractography study
NeuroImage: Clinical, 2015 Background: Our understanding of the effect of ataxia–telangiectasia mutated gene mutations on brain structure and function is limited. In this study, white matter motor pathway integrity was investigated in ataxia telangiectasia patients using diffusion
Ishani Sahama +7 more
doaj +1 more source
System level network data and models attack cancer drug resistance
British Journal of Pharmacology, EarlyView.Drug resistance is responsible for >90% of cancer related deaths. Cancer drug resistance is a system level network phenomenon covering the entire cell. Small‐scale interactomes and signalling network models of drug resistance guide directed drug development.
Márk Kerestély +6 more
wiley +1 more source
Jornal de Pediatria, 2006 OBJETIVO: Estudar a produção de anticorpos a antígenos polissacarídicos em pacientes com ataxia-telangiectasia CASUÍSTICA E MÉTODO: Utilizando a técnica de ELISA, determinamos os níveis de IgG aos sorotipos 1, 3, 5, 6B, 9V e 14 do pneumococo em 14 ...
Maria Cristina Guerra-Maranhão +7 more
doaj +1 more source