Results 21 to 30 of about 600,045 (285)

De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy.

open access: yesAmerican Journal of Human Genetics, 2020
KAT5 encodes an essential lysine acetyltransferase, previously called TIP60, which is involved in regulating gene expression, DNA repair, chromatin remodeling, apoptosis, and cell proliferation; but it remains unclear whether variants in this gene cause ...
Jonathan Humbert   +17 more
semanticscholar   +1 more source

A Comprehensive Approach to Disentangle the Effect of Cerebellar Damage on Physical Disability in Multiple Sclerosis

open access: yesFrontiers in Neurology, 2020
Cerebellar damage occurs frequently in multiple sclerosis (MS) patients, with a wide exhibition of symptoms particularly as impairments of balance and gait. Recent studies implementing new postprocessing magnetic resonance imaging (MRI) techniques showed
Serena Ruggieri   +10 more
doaj   +1 more source

Structural atrophy and functional dysconnectivity patterns in the cerebellum relate to cerebral networks in svMCI

open access: yesFrontiers in Neuroscience, 2023
Subcortical vascular mild cognitive impairment (svMCI) is associated with structural and functional changes in the cerebral cortex affecting major brain networks.
Alaka Acharya   +5 more
doaj   +1 more source

Spinocerebellar Ataxia Type 2 [PDF]

open access: yes, 2012
1. Introduction: The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections.
Georg Auburger   +9 more
core   +1 more source

Familial hemiplegic migraine with cerebellar ataxia and paroxysmal psychosis [PDF]

open access: yes, 1999
Familial hemiplegic migraine is a rare autosomal dominant disorder associated with stereotypic neurologic au ra phenomena including hemiparesis, So far two chromosomal loci have been identified. Families linked to the chromosome 19 locus display missense
Spranger, S.   +4 more
core   +1 more source

Cerebellar atrophy with long-term phenytoin (PHT) use: Case report [PDF]

open access: yesRomanian Journal of Neurology, 2017
Cerebellar atrophy can be found with long-term phenytoin (PHT) use or acute phenytoin intoxication. PHT may cause cerebellar symptoms, such as nystagmus, diplopia, dysarthria and ataxia. Clinical manifestations may be persistent. We report a case of a 41-
Jamir P. Rissardo   +2 more
doaj   +1 more source

The Cerebellar Predictions for Social Interactions: Theory of Mind Abilities in Patients With Degenerative Cerebellar Atrophy

open access: yesFrontiers in Cellular Neuroscience, 2019
Recent studies have focused on the role of the cerebellum in the social domain, including in Theory of Mind (ToM). ToM, or the “mentalizing” process, is the ability to attribute mental states, such as emotion, intentions and beliefs, to others to explain
S. Clausi   +5 more
semanticscholar   +1 more source

Plasticity in mammalian somatosensory cerebellar maps [PDF]

open access: yes, 1996
The organization of sensory maps in mammalian brains can change following peripheral injury or experience. Such plasticity has been demonstrated for somatotopic somatosensory maps in various cortical and subcortical areas. In contrast to somatotopic maps,
Morissette, Josee
core   +1 more source

Neuroradiological Findings in the Spinocerebellar Ataxias

open access: yesTremor and Other Hyperkinetic Movements, 2019
Background: The spinocerebellar ataxias (SCAs) are a group of autosomal dominant degenerative diseases characterized by cerebellar ataxia.
Alex Tiburtino Meira   +6 more
doaj   +1 more source

Magnetic resonance imaging depiction of acquired Dyke-Davidoff-Masson syndrome with crossed cerebro-cerebellar diaschisis: Report of two cases

open access: yesJournal of Pediatric Neurosciences, 2015
Acquired Dyke-Davidoff-Masson syndrome, also known as hemispheric atrophy, is characterized by loss of volume of one cerebral hemisphere from an insult in early life.
Ranjana Gupta   +5 more
doaj   +1 more source

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