Results 51 to 60 of about 80,831 (209)
Stem Cell Research, 2023 Huntington’s disease (HD) is an inherited neurodegenerative disorder caused by an abnormal length of CAG repeats in the gene HTT, leading to an elongated poly-glutamine (poly-Q) sequence in huntingtin (HTT).
Duncan C. Miller +6 more
doaj
Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission [PDF]
, 2015 Defects of mitochondrial dynamics are emerging causes of neurological disease. In two children presenting with severe neurological deterioration following viral infection we identified a novel homozygous STAT2 mutation, c.1836C4A (p.Cys612Ter), using ...
Anderson, G +14 more
core +1 more source
Seminars in epileptology: How to diagnose status epilepticus in adults and children
Epileptic Disorders, EarlyView.Abstract Status epilepticus (SE) can be regarded as the most severe expression of seizure activity characterized by a low probability of spontaneous cessation and mechanisms leading to metabolic and inflammatory derangements with increased risk of brain damage, alterations of neural networks, and potentially life‐threatening systemic complications ...
M. Leitinger +12 more
wiley +1 more source
Huntington\u27s Disease--A Review [PDF]
, 2016 Huntington’s disease is degenerative and effects both cognitive and motor functioning, beginning in the 20s and continuing a decline for about two decades until death.
Dunn, Christen
core +1 more source
Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes
Epilepsia Open, EarlyView.Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola +3 more
wiley +1 more source
A two years longitudinal study of a transgenic Huntington disease monkey [PDF]
, 2014 BACKGROUND: A two-year longitudinal study composed of morphometric MRI measures and cognitive behavioral evaluation was performed on a transgenic Huntington’s disease (HD) monkey.
Adam Neumann +21 more
core +1 more source
Corticospinal Tract Development, Evolution, and Skilled Movements
Movement Disorders, EarlyView.Abstract The evolution of the corticospinal tract (CST) is closely linked to the development of skilled voluntary movements in mammals. The main evolutionary divergence concerns the position of the CST within the spinal cord white matter and its postsynaptic targets in the grey matter.
Emmanuel Roze +2 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
Incidence of adult Huntington's disease in the UK: a UK-based primary care study and a systematic review. [PDF]
, 2016 OBJECTIVES: The prevalence of Huntington's disease (HD) recorded in the UK primary care records has increased twofold between 1990 and 2010. This investigation was undertaken to assess whether this might be due to an increased incidence.
Collett, Laura +7 more
core +1 more source
Experimental Parkinsonism induced by tetanus toxin injected into basal ganglia
British Journal of Pharmacology, EarlyView.Abstract Background and Purpose Local inhibitory circuits and long‐range inhibitory projections within the interconnected basal ganglia nuclei are critical for control of voluntary movement and pathophysiology of different extrapyramidal movement disorders.
Patrik Meglić +6 more
wiley +1 more source