Concept
Progressive myoclonus epilepsy
Related publications (4)
Ultrasensitive quantitative measurement of huntingtin phosphorylation at residue S13
Hilal Lashuel, Lara Petricca, Sean Michael Deguire
Huntington's disease (HD) is a progressive neurodegenerative disorder caused by an expansion of a CAG triplet repeat (encoding for a polyglutamine tract) within the first exon of the huntingtin gene. Expression of the mutant huntingtin (mHTT) protein can r ...
ACADEMIC PRESS INC ELSEVIER SCIENCE2020Lack of additive role of ageing in nigrostriatal neurodegeneration triggered by alpha-synuclein overexpression
Grégoire Courtine, Laetitia Danielle Philippine Baud, Isabel Laura Vollenweider
Introduction: Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by the loss of dopaminergic neurons as well as the presence of proteinaceous inclusions named Lewy bodies. alpha synuclein (alpha-syn) is a major constituent o ...
Biomed Central Ltd2015Synchrotron Infrared Microspectroscopy Detecting the Evolution of Huntington's Disease Neuropathology and Suggesting Unique Correlates of Dysfunction in White versus Gray Brain Matter
László Forró, Sylvia Jeney, Heike Runne, Markus Bonda
Huntington's disease (HD), caused by a mutation of the corresponding gene encoding the protein huntingtin (htt), is characterized by progressive deterioration of cognitive and motor functions, paralleled by extensive loss of striatal neurons. At the cellul ...
2011Transcriptional dysregulation in Huntington's disease
Huntington's disease (HD) is a progressive neurodegenerative disorder with autosomal dominant inheritance. It is caused by a singular mutation in exon 1 of the HD gene encoding an abnormal polyglutamine (polyQ) expansion in the N-terminal region of the hun ...
EPFL2008