Results 121 to 130 of about 38,167 (281)

IDENTIFICATION OF DISEASE GENES FOR RARE AUTOSOMAL RECESSIVE EPILEPTIC SYNDROMES BY HOMOZYGOSITY MAPPING

open access: yes, 2011
Introduction: The genetics of the most common neurological disorders, including epilepsy, with mendelian inheritance has been dissected in the last twenty years. However the genetic etiology of some rare epileptic conditions is still unknown.
Coppola, Antonietta
core  

Estudo clínico-epidemiológico de pacientes com epilepsia mioclônica juvenil: Clínica Multidisciplinar de Epilepsia da Policlínica de Referência Regional I/ SUS - Florianópolis/SC. [PDF]

open access: yes, 1988
Trabalho de Conclusão de Curso - Universidade Federal de Santa Catarina, Centro de Ciências da Saúde, Departamento de Clínica Médica, Curso de Medicina, Florianópolis ...
Figueredo, Roberto
core  

Temporal Interference Stimulation Modulates Resting State Functional Connectivity of Motor Circuit in Parkinson's Disease

open access: yesMovement Disorders, EarlyView.
Abstract Background Transcranial temporal interference stimulation (TIs) targeting the subthalamic nucleus (STN) is a novel noninvasive neuromodulation approach with potential to improve motor symptoms in Parkinson's disease (PD). However, its underlying neuroimaging mechanisms remain unclear.
Yongxin Xu   +19 more
wiley   +1 more source

Co‐ and Multi‐Pathologies in Parkinson's Disease: An International Parkinson and Movement Disorder Society Scientific Issues Committee Review

open access: yesMovement Disorders, EarlyView.
Abstract Parkinson's disease (PD) has been historically defined as a disease of striatal dopamine deficiency secondary to degeneration of dopaminergic neurons in the substantia nigra pars compacta, related to the presence of Lewy bodies and Lewy neurites.
Michele Matarazzo   +10 more
wiley   +1 more source

Interictal autonomic abnormalities in idiopathic Rolandic epilepsy

open access: yes, 2012
We investigated 50 young patients with a diagnosis of Rolandic Epilepsy (RE) for the presence of abnormalities in autonomic tone compared with 50 young patients with idiopathic generalized epilepsy with absences and 50 typically developing children of ...
Stefano Seri   +15 more
core   +1 more source

Typical Absence Seizures and Related Epilepsy Syndromes

open access: yes, 2018
Typical absence (TA) seizures are brief generalized seizures of abrupt onset and termination characterized by loss of awareness with subtle motor features.
Demet KINAY
core   +1 more source

POLG‐Related Parkinsonism with Good Response to Deep Brain Stimulation

open access: yes
Movement Disorders Clinical Practice, EarlyView.
Evdokia Efthymiou   +4 more
wiley   +1 more source

Wearable Movement‐Tracking for Prodromal Parkinson's Disease Detection: A Cross‐Country Validation Study

open access: yesMovement Disorders, EarlyView.
Abstract Background Models trained on accelerometer data have been proposed for detecting prodromal Parkinson's disease (PD). However, uncertainties in diagnosis timing in the UK Biobank (UKBB) may affect generalizability to other cohorts. Objectives The aim of the study was to evaluate the performance of previously published models for prodromal PD ...
Fabian Kahl   +15 more
wiley   +1 more source

Epileptic–Dyskinetic Encephalopathy Associated with a PPP3CA Variant: Expansion of the Phenotypic Spectrum

open access: yes
Movement Disorders Clinical Practice, EarlyView.
Bruno Antunes Contrucci   +10 more
wiley   +1 more source

Seeing Invisible Oligomers: Rethinking α‐Synuclein Pathology Through Proximity Ligation Assay

open access: yesMovement Disorders, EarlyView.
Abstract Parkinson's disease (PD) and multiple system atrophy are defined by α‐synuclein (αSYN)‐positive inclusions – Lewy bodies (LBs) and glial cytoplasmic inclusions – yet mounting evidence indicates that these inclusions represent only a fraction of disease‐relevant pathology.
Hiroaki Sekiya   +3 more
wiley   +1 more source

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