Results 201 to 210 of about 461,280 (380)
Novel Intragenic Duplication of GATAD2B in a Patient With GAND
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The nucleosome remodeling and deacetylation (NuRD) complex is a major chromatin regulator and plays a critical role in regulating gene transcription, genome integrity, and cell cycle progression. Heterozygous variants in GATAD2B, a core NuRD component, have been reported to cause GATAD2B‐Associated Neurodevelopmental Disorder (GAND), an ...
Mari Mori +9 more
wiley +1 more source
The Cerebellum: Adaptive Prediction for Movement and Cognition
Trends in Cognitive Sciences, 2017 A. Sokolov, R. Chris Miall, R. Ivry
semanticscholar +1 more source
Fatty Degenerative Changes in the Purkinje Cell Belt of the Cerebellum in Exhaustive Infective Psychoses [PDF]
, 1916 Egbert W. Fell
openalex +1 more source
Intestinal Atresia in PPP1R12A‐Related Urogenital and Brain Malformation Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT PPP1R12A‐related urogenital and brain malformation syndrome (UBMS) is a newly described disorder characterized by congenital anomalies primarily involving the urogenital system and the brain. We describe a preterm female neonate with multiple congenital anomalies, including type IIIb jejunal atresia, incomplete intestinal rotation, imperforate
Adriana Gomes +4 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT A de novo, missense variant in ITPR1‐inositol 1,4,5‐trisphosphate receptor type 1 (ITPR1), p.(Tyr567Cys), was identified by trio whole‐genome sequencing in an individual diagnosed with Spinocerebellar ataxia 29 (SCA29) who was affected by cerebral palsy and global developmental delay.
Thania Ordaz +12 more
wiley +1 more source
Multiple Lesions of the Cerebrum and of the Cerebellum, Accompanied by Epileptiform Attacks [PDF]
, 1893 ENB
openalex +1 more source
De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil +8 more
wiley +1 more source
The cerebellum in Alzheimer's disease: evaluating its role in cognitive decline.
Brain : a journal of neurology, 2018 H. Jacobs +6 more
semanticscholar +1 more source