Results 241 to 250 of about 139,916 (258)

Advancing the diagnosis of repeat expansion disorders

The Lancet Neurology, 2022
openaire   +2 more sources

Gender and Cell-Type-Specific Effects of the Transcription-Coupled Repair Protein, ERCC6/CSB, on Repeat Expansion in a Mouse Model of the Fragile X-Related Disorders

Human Mutation, 2014
Xiaonan Zhao, Karen Usdin
exaly  

Analysis of CAG/CTG repeat size in chinese subjects with schizophrenia and bipolar affective disorder using the repeat expansion detection method

Biological Psychiatry, 1998
Tao Li, Homero Vallada, Xiangdong Tang   +2 more
exaly  

Survival and CTG repeat expansion in adults with myotonic dystrophy type 1

Muscle and Nerve, 2011
William J Groh, Changyu Shen, Darren G Monckton   +2 more
exaly  

Repeat Expansion Diseases

2011
openaire   +1 more source

Autosomal Dominant Frontotemporal Lobar Degeneration Due to the C9ORF72 Hexanucleotide Repeat Expansion: Late-Onset Psychotic Clinical Presentation

Biological Psychiatry, 2013
Daniela Galimberti, Maria Serpente, Chiara Villa   +2 more
exaly  

Tetraplex formation by the progressive myoclonus epilepsy type-1 repeat: implications for instability in the repeat expansion diseases

FEBS Letters, 2001
Karen Usdin
exaly  

The C9ORF72 hexanucleotide repeat expansion is a rare cause of schizophrenia

Neurobiology of Aging, 2014
Daniela Galimberti, Andreas Reif, Bernardo Dell'Osso   +2 more
exaly  

Repeat Expansion Diseases

2005
openaire   +1 more source

Toxic PR n poly-dipeptides encoded by the C9orf72 repeat expansion block nuclear import and export

Proceedings of the National Academy of Sciences of the United States of America, 2017
Kevin Y Shi, Eiichiro Mori, Yi Lin
exaly