Results 61 to 70 of about 82,652 (261)

Purkinje cell loss in essential tremor [PDF]

open access: yesMovement Disorders, 2014
The recent study published by Symanski et al.1 reports similar Purkinje cell counts in a group of “essential tremor” cases compared to a group of controls. There are a number of major methodological problems with the design of the study and these problems cast doubt on the validity of the results that are reported.
Elan D, Louis, Phyllis L, Faust
openaire   +2 more sources

Autoimmune Encephalitis in Acute Care—Pathology, Diagnosis, and Management

open access: yesAdvanced Science, EarlyView.
ABSTRACT Autoimmune encephalitis (AE) is characterized by immune‐mediated inflammation of the brain parenchyma, presenting with various neurological syndromes, including but not limited to seizures, altered consciousness, neuropsychiatric symptoms, and movement disorders.
Suneesh Thilak   +9 more
wiley   +1 more source

Morphometric evidences for regional variation in potential of neural plasticity [PDF]

open access: yes, 2006
The neural plasticity showing the ability of nervous system to change its structure and function is a well-documented fact. However regional variation within a CNS structure to undergo plastic changes has been shown by limited studies.
Behnampour, N.   +3 more
core   +1 more source

A Novel Gain‐of‐Function ITPR1 Variant Associated With a Movement Disorder Characterized by Tremor and Dystonia

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge   +9 more
wiley   +1 more source

Metabotropic Glutamate Receptor Activation in Cerebelar Purkinje Cells as Substrate for Adaptive Timing of the Classicaly Conditioned Eye Blink Response [PDF]

open access: yes, 1995
To understand how the cerebellum adaptively times the classically conditioned nictitating membrane response (NMR), a model of the metabotropic glutamate receptor (mGluR) second messenger system in cerebellar Purkinje cells is constructed.
Bullock, Daniel   +2 more
core   +1 more source

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson   +1 more
wiley   +1 more source

Zebrin II Expressing Purkinje Cell Phenotype—Related and—Unrelated Cerebellar Abnormalities in Ca˅2.1 Mutant, Rolling Mouse Nagoya

open access: yesThe Scientific World Journal, 2010
Rolling mouse Nagoya is an ataxic mutant mouse that carries a mutation in a gene encoding for the alpha 1A subunit of the voltage-gated P/Q-type Ca2+ channel (Ca˅2.1).
Kazuhiko Sawada, Yoshihiro Fukui
doaj   +1 more source

Stellate cell computational modeling predicts signal filtering in the molecular layer circuit of cerebellum

open access: yesScientific Reports, 2021
The functional properties of cerebellar stellate cells and the way they regulate molecular layer activity are still unclear. We have measured stellate cells electroresponsiveness and their activation by parallel fiber bursts.
Martina Francesca Rizza   +6 more
doaj   +1 more source

Equine models in translational medicine: A comparative approach to human health

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This diagram summarizes and contrasts rodent and equine models, outlining their strengths, limitations, and applications. Horses offer naturally occurring diseases, genetic and physiological similarities to humans, and suitability for longitudinal and clinical‐scale studies.
Shayan Boozarjomehri Amnieh   +1 more
wiley   +1 more source

Purkinje cell-specific Grip1/2 knockout mice show increased repetitive self-grooming and enhanced mGluR5 signaling in cerebellum [PDF]

open access: yes, 2019
Cerebellar Purkinje cell (PC) loss is a consistent pathological finding in autism. However, neural mechanisms of PC-dysfunction in autism remain poorly characterized.
Chiu, Shu-Ling   +6 more
core   +1 more source

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