Results 211 to 220 of about 63,189 (307)

Phenotypic Exploration in Patients with Heterozygous Variant in AFG3L2 Gene: A Case‐Series and Literature Review

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Variants in AFG3‐Like Matrix AAA Peptidase, Subunit 2 (AFG3L2) gene are associated with diverse clinical phenotypes. Here, we describe phenotypic findings of two unrelated children with de novo heterozygous variant and one family with inherited heterozygous variant in AFG3L2 gene.
Sangeetha Yoganathan   +14 more
wiley   +1 more source

Effects of Kv1.3 knockout on pyramidal neuron excitability and synaptic plasticity in piriform cortex of mice. [PDF]

open access: yesActa Pharmacol Sin
Zhou YS   +10 more
europepmc   +1 more source

Tracking Genetic Parkinson's Disease with Molecular Imaging: A Systematic Review

open access: yesMovement Disorders Clinical Practice, EarlyView.
Abstract Background Parkinson's disease (PD) is a worldwide, complex neurodegenerative disorder influenced by both genetic and environmental factors. Around 15–20% of PD cases are linked to genetic mutations, providing insights into the disease's pathogenesis.
Chiara Meneghini   +5 more
wiley   +1 more source

Putamen Atrophy as a Predictive Factor of Efficacy of GPi‐DBS in Dystonia‐Dyskinesia Syndrome Secondary to Perinatal Anoxic Encephalopathy

open access: yesMovement Disorders, EarlyView.
Abstract Background Perinatal hypoxic–ischemic encephalopathy (HIE) is a severe condition resulting from impaired oxygen delivery to the developing brain, often leading to both motor deficits and dystonia‐dyskinetic syndromes (DDS). In selected cases, deep brain stimulation of the globus pallidus internus (GPi‐DBS) may provide a therapeutic option ...
Marylou Grasso   +7 more
wiley   +1 more source

Local glutamate-mediated dendritic plateau potentials change the state of the cortical pyramidal neuron.

open access: yesJ Neurophysiol, 2021
Gao PP   +8 more
europepmc   +1 more source

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