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Brain Communications|October 8, 2021
Genome sequencing identifies rare tandem repeat expansions and copy number variants in Lennox-Gastaut syndromeFarah Qaiser, Tara Sadoway, Yue Yin, et al.
Science Advances|July 31, 2021
FAN1-MLH1 interaction affects repair of DNA interstrand cross-links and slipped-CAG/CTG repeatsAntonio Porro, Mohiuddin Mohiuddin, Christina Zurfluh, et al.
Cell Reports|December 8, 2021
FAN1 exo- not endo-nuclease pausing on disease-associated slipped-DNA repeats: A mechanism of repeat instabilityAmit Laxmikant Deshmukh, Marie-Christine Caron, Mohiuddin Mohiuddin, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|April 15, 2024
Stability of Mosaic Divergent Repeat Interruptions in X-Linked Dystonia-ParkinsonismJoshua Laß, Theresa Lüth, Kathleen Schlüter, et al.
Genes, Chromosomes & Cancer|November 7, 2015
An infant with MLH3 variants, FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing studyRina Kansal, Xinmin Li, Joseph Shen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 15, 2025
Screening rare genetic diagnoses for amenability to bespoke antisense oligonucleotide therapy development: A retrospective cohort studyDavid Cheerie, Marlen C Lauffer, Logan Newton, et al.
Disease Models & Mechanisms|November 9, 2012
Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxiaAurore Hick, Marie Wattenhofer-Donzé, Satyan Chintawar, et al.
Plos Genetics|November 9, 2013
Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approachesRicardo Mouro Pinto, Ella Dragileva, Andrew Kirby, et al.
Neuron|March 28, 2017
Regulatory Role of RNA Chaperone TDP-43 for RNA Misfolding and Repeat-Associated Translation in SCA31Taro Ishiguro, Nozomu Sato, Morio Ueyama, et al.
Brain : a Journal of Neurology|May 16, 2025
FGF14 repeat length and mosaic interruptions: modifiers of spinocerebellar ataxia 27B?Joshua Laß, Mirja Thomsen, Max Borsche, et al.
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