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Frontiers in Molecular Biosciences|December 31, 2020
Lack of a Clear Behavioral Phenotype in an Inducible FXTAS Mouse Model Despite the Presence of Neuronal FMRpolyG-Positive AggregatesSaif N Haify, Ruchira S D Mankoe, Valerie Boumeester, et al.
The EMBO Journal|February 27, 2010
Sam68 sequestration and partial loss of function are associated with splicing alterations in FXTAS patientsChantal Sellier, Frédérique Rau, Yilei Liu, et al.
Journal of Neurodevelopmental Disorders|August 20, 2014
Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndromeRobert F Berman, Ronald Am Buijsen, Karen Usdin, et al.
Cell Reports|December 20, 2018
An Integrative Study of Protein-RNA Condensates Identifies Scaffolding RNAs and Reveals Players in Fragile X-Associated Tremor/Ataxia SyndromeFernando Cid-Samper, Mariona Gelabert-Baldrich, Benjamin Lang, et al.
Cell Cycle (Georgetown, Tex.)|December 9, 2014
Induced expression of expanded CGG RNA causes mitochondrial dysfunction in vivoRenate K Hukema, Ronald A M Buijsen, Chris Raske, et al.
Human Molecular Genetics|June 2, 2021
Small molecule 1a reduces FMRpolyG-mediated toxicity in in vitro and in vivo models for FMR1 premutationSaif N Haify, Ronald A M Buijsen, Lucas Verwegen, et al.
Acta Neuropathologica|July 26, 2011
Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in miceMichael R Hunsaker, Claudia M Greco, Marian A Spath, et al.
Brain Communications|March 12, 2021
Neuropathology of <i>FMR1</i>-premutation carriers presenting with dementia and neuropsychiatric symptomsAnke A Dijkstra, Saif N Haify, Niek A Verwey, et al.
Acta Neuropathologica Communications|February 28, 2019
Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathologyH Jürgen Wenzel, Karl D Murray, Saif N Haify, et al.
Human Molecular Genetics|June 11, 2015
Reversibility of neuropathology and motor deficits in an inducible mouse model for FXTASRenate K Hukema, Ronald A M Buijsen, Martijn Schonewille, et al.
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