Results 331 to 340 of about 9,201,564 (391)
Aim A GGC repeat expansion in the 5′ untranslated region of NOTCH2NLC is a genetic cause of Neuronal Intranuclear Inclusion Disease (NIID) that exhibits cognitive, motor, and autonomic dysfunction. Our objective is to determine whether there are undiagnosed NIID cases in a psychiatry‐based dementia‐enriched cohort and to identify their clinical ...
Tesshin Miyamoto+15 more
wiley +1 more source
CHCHD2 up-regulation in Huntington disease mediates a compensatory protective response against oxidative stress. [PDF]
Liu X+9 more
europepmc +1 more source
Early adversity and the comorbidity between metabolic disease and psychopathology
Abstract figure legend Hierarchical diagram representing the interplay between the genetic background and early life adversities and its effect on multiple physiological processes that ultimately impact on the risk for the comorbdity between psychopathology and cardiometabolic disorders.
Ameyalli Gómez‐Ilescas+1 more
wiley +1 more source
Correction of symptoms of Huntington disease by genistein through FOXO3-mediated autophagy stimulation. [PDF]
Pierzynowska K+6 more
europepmc +1 more source
Prey Remains From Stomachs of Killer Whales (Orcinus orca) Stranded in Alaska, 2005–2021
Marine Mammal Science, EarlyView.
Anna L. Bryan+6 more
wiley +1 more source
Huntington disease is devastating to patients and their families - with autosomal dominant inheritance, onset typically in the prime of adult life, progressive course, and a combination of motor, cognitive and behavioural features. The disease is caused by an expanded CAG trinucleotide repeat (of variable length) in HTT, the gene that encodes the ...
Gillian P. Bates+11 more
semanticscholar +8 more sources
Multiple lines of evidence have implicated neuroinflammation as both a cause and an effect of neurodegeneration in Huntington’s disease (HD). Studies of post mortem human HD brains and HD mouse models have demonstrated that the huntingtin protein (mHTT) has neurotoxic effects due to cell-autonomous defects in neurons and through cell-cell interactions ...
Hoppitt, T+4 more
+11 more sources
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Seminars in Cell Biology, 1995
Early in 1993, an unstable, expanded trinucleotide repeat in a novel gene of unknown function was identified on HD chromosomes. This discovery unleased a flurry of experimentation that has established the expanded CAG repeat the almost universal cause of the characteristic neurologic symptoms and pathology of this neurodegenerative disorder of midlife ...
Marcy E. MacDonald, James F. Gusella
openaire +4 more sources
Early in 1993, an unstable, expanded trinucleotide repeat in a novel gene of unknown function was identified on HD chromosomes. This discovery unleased a flurry of experimentation that has established the expanded CAG repeat the almost universal cause of the characteristic neurologic symptoms and pathology of this neurodegenerative disorder of midlife ...
Marcy E. MacDonald, James F. Gusella
openaire +4 more sources