Results 71 to 80 of about 91,965 (229)
BMC Neurology, 2021 Background Recent advances in therapeutic options may prevent deterioration related to Huntington’s disease (HD), even at the pre-symptomatic stage. Be that as it may, a well-characterized patient population is essential for screening and monitoring ...
Katalin Despotov +10 more
doaj +1 more source
Two-photon imaging of cell-specific fluorophores in transgenic mice – an exploratory tool to study mechanisms of white matter injury [PDF]
, 2006 Relatively little is known about specific pathways leading to structural and functional disruption of axons and glial cells in white matter. Because focal cerebral ischemia in humans damages both gray and white matter, an understanding of white matter ...
6th Maltese Medical School Conference +2 more
core
Role of mitochondria in Parkinson disease [PDF]
, 1999 The cause of the selective degeneration of nigrostriatal neurons in Parkinson disease (PD) has remained largely unknown. Exceptions include rare missense mutations in the alpha-synuclein gene on chromosome 4, a potentially pathogenic mutation affecting ...
Graeber, M. B. +4 more
core +1 more source
Movement Disorders in Developmental and Epileptic Encephalopathies
Movement Disorders Clinical Practice, EarlyView.Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad +2 more
wiley +1 more source
bioRxivHuntington’s disease (HD) is a polyglutamine neurodegenerative disease involving pathogenesis within the striatum and cerebral cortex and a neurodevelopmental component, particularly in juvenile HD form (JOHD).
Karolina Świtońska-Kurkowska +13 more
semanticscholar +1 more source
Neural Regeneration Research, 2016 Progress to date from our group and others indicate that using genetically-engineered mesenchymal stem cells (MSC) to secrete brain-derived neurotrophic factor (BDNF) supports our plan to submit an Investigational New Drug application to the Food and ...
P. Deng +6 more
semanticscholar +1 more source
Dominant-Negative Effects of Adult-Onset Huntingtin Mutations Alter the Division of Human Embryonic Stem Cells-Derived Neural Cells. [PDF]
PLoS ONE, 2016 Mutations of the huntingtin protein (HTT) gene underlie both adult-onset and juvenile forms of Huntington's disease (HD). HTT modulates mitotic spindle orientation and cell fate in mouse cortical progenitors from the ventricular zone.
Carla Lopes +7 more
doaj +1 more source
In Vivo Mapping of Catecholaminergic Loss and Iron Deposition in Huntington's Disease
Movement Disorders, EarlyView.Abstract Background The pathophysiology of Huntington's disease (HD) remains obscure. Magnetic resonance imaging (MRI) can reveal in vivo molecular changes related to disease pathology. Objectives To investigate catecholaminergic neuronal integrity and subcortical brain iron accumulation in HD employing neuromelanin‐sensitive MRI, and quantitative ...
Edoardo R. de Natale +11 more
wiley +1 more source
The differential diagnosis of Huntington's disease-like syndromes: 'red flags' for the clinician [PDF]
, 2013 A growing number of progressive heredodegenerative conditions mimic the presentation of Huntington's disease (HD). Differentiating among these HD-like syndromes is necessary when a patient with a combination of movement disorders, cognitive decline ...
Bhatia, KP, Martino, D, Stamelou, M
core
The ubiquitin-proteasome pathway in Huntington's disease. [PDF]
, 2008 The accumulation of mutant protein is a common feature of neurodegenerative disease. In Huntington's disease, a polyglutamine expansion in the huntingtin protein triggers neuronal toxicity.
Finkbeiner, Steven, Mitra, Siddhartha
core +2 more sources