Results 281 to 290 of about 5,698,803 (355)

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron   +5 more
wiley   +1 more source

RPA1 protects DNA damage-induced PANoptosis in limb development. [PDF]

open access: yesSci Adv
Yin Q   +11 more
europepmc   +1 more source

An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT The FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline. We describe three male patients referred for progressive cognitive impairment and behavioral changes. Standard
Guido Greco   +7 more
wiley   +1 more source

Cholangiocytes' primary cilia regulate DNA damage response and repair. [PDF]

open access: yesAm J Physiol Gastrointest Liver Physiol
Peixoto E   +6 more
europepmc   +1 more source

Variably Protease‐Sensitive Prionopathy: Two New Cases With Motor Neuron‐Dementia Syndrome

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We describe two patients with variably protease‐sensitive prionopathy (VPSPr) who developed progressive upper motor neuron symptoms, insomnia, behavioral and cognitive decline, compatible with primary lateral sclerosis associated with frontotemporal dementia (FTD).
María Elena Erro   +10 more
wiley   +1 more source

DNA damage reflected in the evolution of G-runs in genomes. [PDF]

open access: yesVavilovskii Zhurnal Genet Selektsii
Grin IR, Zharkov DO.
europepmc   +1 more source

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