Results 131 to 140 of about 258,614 (316)
A patient diagnosed with developmental delay, intellectual disability, and autistic and obsessive-compulsive symptoms was found to have a posterior fossa arachnoid cyst (PFAC) compressing the cerebellum.
Schmahmann, Jeremy D. +4 more
core +1 more source
ABSTRACT Objective To characterize the demographic, clinical, and laboratory features of the Chinese patients of genetic Creutzfeldt‐Jakob disease with T188K variant (T188K‐gCJD), the most common subtype of genetic prion diseases (gPrDs) in China. Methods In this nationwide retrospective study, data from 98 genetically confirmed T188K‐gCJD patients ...
Chun‐Jie Li +11 more
wiley +1 more source
A pilot study of essential tremor: cerebellar GABA+/Glx ratio is correlated with tremor severity
Essential tremor is a common movement disorder with an unclear origin. Emerging evidence suggests the role of the cerebellum and the thalamus in tremor pathophysiology.
Zsigmond, Peter, +9 more
core +1 more source
White Matter Microstructural Abnormalities in Neonatal Onset Genetic Epilepsy
ABSTRACT Objective Recent evidence indicates that epilepsy is associated with abnormal white matter. If seizures alter white matter, then the impact upon network function, epileptogenesis, and cognition could be pronounced in neonates undergoing rapid developmental myelination. Neonates with epilepsy due to nonstructural genetic causes provide a unique
Amanda G. Sandoval Karamian +8 more
wiley +1 more source
Cerebellar connections: hypothalamus
Morphological studies have described reciprocal cerebello-hypothalamic projections in various species. These connections provide evidence for the key role of the cerebellum and hypothalamus in physiological regulatory processes such as autonomic and ...
ONAT, FİLİZ
core +1 more source
Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source
FUNCTION OF THE CEREBELLUM [PDF]
n ...
openaire +2 more sources
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers +19 more
wiley +1 more source
Development of adenosine signalling in the cerebellum [PDF]
The release and clearance of adenosine are reasonably well-documented in the mature CNS but relatively little is known about how adenosine signalling changes during postnatal development.
Atterbury, Alison
core
Cerebellar contribution to gait and postural control: an rTMS study
reservedThe cerebellum performs similar tasks for cognitive functions as it does for motor control; however, cerebellar deficits following a lesion typically overlap symptoms, making it challenging to determine the precise role of the cerebellum on ...
AVILA PÉREZ, SOFÍA
core

