Results 81 to 90 of about 39,855 (249)

Spinocerebellar Ataxia Type 2 [PDF]

, 2012
1. Introduction: The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections.
Auburger, Georg, Freund, Hans-Joachim, Rodríguez-Labrada, Roberto, Velázquez-Pérez, Luis   +3 more
core   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

A dynamic trinucleotide repeat (TNR) expansion in the DMD gene

Molecular and Cellular Probes, 2016
Dystrophinopathies are allelic X-linked myopathies caused by large deletions/duplications or small lesions along the DMD gene. An unexpected dynamic trinucleotide (GAA) expansion, ranging from ∼59 to 82 pure GAA repeats, within the DMD intron 62, was revealed to segregate through three family generations.
Sophia Kitsiou-Tzeli, Maria Svingou, Pelagia Vorgia, Emmanuel Kanavakis, Emmanuel Kanavakis, Dimitris Petichakis, George K. Papadimas, Roser-Maria Pons, Artemis Gika, Christalena Sofocleous, Christalena Sofocleous, Kyriaki Kekou   +11 more
openaire   +3 more sources

Group Testing Approach for Trinucleotide Repeat Expansion Disorder Screening [PDF]

Clinical Chemistry, 2016
Abstract BACKGROUND Fragile X syndrome (FXS, OMIM #300624) is an X-linked condition caused by trinucleotide repeat expansions in the 5′ UTR (untranslated region) of the fragile X mental retardation 1 (FMR1) gene. FXS testing is commonly performed in expanded carrier screening and has been proposed for
Imran S. Haque, Eric A. Evans, Kristjan Eerik Kaseniit, Alex F. Robertson, Mark R. Theilmann   +4 more
openaire   +2 more sources

A Variable Polyglutamine Repeat Affects Subcellular Localization and Regulatory Activity of a Populus ANGUSTIFOLIA Protein. [PDF]

, 2018
Polyglutamine (polyQ) stretches have been reported to occur in proteins across many organisms including animals, fungi and plants. Expansion of these repeats has attracted much attention due their associations with numerous human diseases including ...
Barry, Kerrie, Bryan, Anthony C, Chen, Jin-Gui, Guo, Jianjun, Jacobson, Daniel, Jawdy, Sara, Muchero, Wellington, Ranjan, Priya, Schmutz, Jeremy, Singan, Vasanth, Tuskan, Gerald A, Weighill, Deborah, Zhang, Jin   +12 more
core   +1 more source

Exploration of Neurodegenerative Diseases Using Long‐Read Sequencing and Optical Genome Mapping Technologies

Movement Disorders, EarlyView.
Abstract Genetic factors play a central role in neurodegenerative disorders. Over the past few decades, significant progress has been made in identifying the causative genes of numerous monogenic disorders, largely due to the widespread adoption of next‐generation sequencing (NGS) technologies in both research and clinical settings.
Guillaume Cogan, Kensuke Daida, Cornelis Blauwendraat, Kimberley Billingsley, Alexis Brice   +4 more
wiley   +1 more source

Trinucleotide Repeat-Targeting dCas9 as a Therapeutic Strategy for Fuchs’ Endothelial Corneal Dystrophy

Translational Vision Science & Technology, 2020
Purpose Fuchs’ endothelial corneal dystrophy (FECD) is the leading indication for corneal transplantation. Seventy percent of cases are caused by an intronic CTG triplet repeat expansion in the TCF4 gene that results in accumulation of pathogenic ...
Ziye Rong, Xin Gong, J. Hulleman, D. Corey, V. Mootha   +4 more
semanticscholar   +1 more source

The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues [PDF]

, 2007
Friedreich ataxia (FRDA) is caused by a homozygous GAA repeat expansion mutation within intron 1 of the FXN gene, leading to reduced expression of frataxin protein.
C. Sandi, D. Trabzuni, D. Varshney, M. Pook, O. Ismail, R. M. Pinto, S. Al-Mahdawi, S. Lymperi   +7 more
core   +1 more source

Diffusion along Perivascular Spaces as a Marker for Glymphatic System Impairment in Huntington's Disease

Movement Disorders, EarlyView.
Abstract Background The aim was to investigate if glymphatic function is impaired in patients with Huntington's disease (HD) and its clinical relevance. Methods Forty‐nine subjects carrying mutant Huntingtin (mHTT), comprising 35 manifest (mHD) and 14 pre‐manifest (PreHD), and 35 healthy controls (HC) were recruited in this study.
Jin‐Hui Yin, Ling‐Xiao Cao, Ya‐Ou Liu, Yue Huang   +3 more
wiley   +1 more source

Analyzing pre-symptomatic tissue to gain insights into the molecular and mechanistic origins of late-onset degenerative trinucleotide repeat disease

bioRxiv, 2020
How genetic defects trigger the molecular changes that cause late-onset disease is important for understanding disease progression and therapeutic development.
Yongjun Chu, Jiaxin Hu, Hanquan Liang, M. Kanchwala, Chao Xing, W. Beebe, C. B. Bowman, Xin Gong, D. Corey, V. Mootha   +9 more
semanticscholar   +1 more source