Results 21 to 30 of about 9,291 (257)
Brain Sciences, 2023 In neurodegenerative cerebellar ataxias, not only ataxia but also extra-cerebellar signs have a significant impact on patients’ health related to quality of life (HRQoL).
Olivera Tamaš +8 more
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Journal of the Neurological Sciences, 2003 There has been rapid progress in the understanding of several aspects of Friedreich's ataxia (FA) since the gene mutation was identified in 1996. At the clinical level, now it is possible to confirm that the majority of patients fullfilling clinical criteria for classic FA have the FA gene mutation but some do not, indicating genetic heterogeneity ...
openaire +10 more sources
Current concepts in the treatment of hereditary ataxias
Arquivos de Neuro-Psiquiatria, 2016 Hereditary ataxias (HA) represents an extensive group of clinically and genetically heterogeneous neurodegenerative diseases, characterized by progressive ataxia combined with extra-cerebellar and multi-systemic involvements, including peripheral ...
Pedro Braga Neto +5 more
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Late-onset autosomal recessive cerebellar ataxia and neuropathy with a novel splicing mutation in the ATM gene [PDF]
Journal of Integrative Neuroscience, 2020 Autosomal recessive cerebellar ataxias comprise many types of diseases. The most frequent autosomal recessive cerebellar ataxias are Friedreich ataxia, but other types are relatively rare.
Haruo Shimazaki, Junya Kobayashi, Ryo Sugaya, Imaharu Nakano, Shigeru Fujimoto
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The Role of “Adult‐Onset” Cancer Predisposition Genes in Pediatric Cancer: A Comprehensive Review
Pediatric Blood &Cancer, EarlyView.ABSTRACT Current literature estimates that 10% of pediatric cancers are caused by pathogenic or likely pathogenic (P/LP) germline variants in cancer predisposition genes (CPGs). Variants in CPGs thought to increase cancer risk exclusively during adulthood are referred to as “adult‐onset” CPGs (aoCPGs).
Maria Rozo +5 more
wiley +1 more source
Hyperosmotic stress induces PARP1‐mediated HPF1‐dependent mono(ADP‐ribosyl)ation
FEBS Letters, EarlyView.Sorbitol‐induced hyperosmotic stress rapidly induces reversible mono(ADP‐ribosyl)ation (MARylation) on PARP1 without the signs of genotoxic signaling. We show that PARP1 autoMARylation is HPF1 dependent and forms hydroxylamine‐resistant O‐glycosidic linkages.
Anna Georgina Kopasz +11 more
wiley +1 more source
FEBS Letters, EarlyView.Although too much iron in the brain promotes neurodegeneration, iron ion chelators have had mixed effects in clinical trials. This review explains why; some chelators do not render the iron redox‐inactive (e.g., L1) whereas others do (e.g., desferrioxamine).
Barry Halliwell
wiley +1 more source
Frontiers in NeurologyNeurological disorders pose a rapidly growing global health burden, significantly affecting cognitive and motor functions with profound societal repercussions.
Umar Saeed +11 more
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KDM7A and KDM1A inhibition suppresses tumour promoting pathways in prostate cancer
Molecular Oncology, EarlyView.Treatment resistance is a major challenge for patients with advanced prostate cancer. This study examined an alternative approach to target the major prostate cancer‐promoting pathway by targeting epigenetic factors, whose levels are higher in tumours.
Jennie N Jeyapalan +16 more
wiley +1 more source
Correo Científico Médico, 2023 Introducción: La periodontitis y las enfermedades cardiovasculares de origen isquémico se han convertido en un serio problema para la salud pública a nivel mundial. Estas enfermedades tienen etiología multifactorial con un importante componente genético.
Maricelys Leonor Martínez Pérez +2 more
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