Results 81 to 90 of about 59,798 (297)
Genetic issues in the diagnosis of dystonias [PDF]
, 2013 Dystonias are heterogeneous hyperkinetic movement disorders characterized by involuntary muscle contractions which result in twisting and repetitive movements and abnormal postures.
Petrucci S., Valente E. M.
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Epilepsy Phenotypic Spectrum of NUS1‐Related Disorder: A Case Series
Annals of the Child Neurology Society, EarlyView.ABSTRACT Background Epilepsy with myoclonic and atonic seizures (EMAtS), also known as Doose syndrome, accounts for 1%–2% of childhood epilepsies, and various genes have been implicated in causing this epilepsy syndrome. NUS1 encodes for Nogo‐B receptor (NgBR), which stabilizes the dehydrodolichyl‐diphosphate synthase complex in the endoplasmic ...
Saumel Ahmadi +6 more
wiley +1 more source
Semiologia e classificação das mioclonias.
Acta Médica Portuguesa, 1995 Myoclonus can present itself in various distinct clinical contexts. The authors review the possible different types of myoclonus, as a single manifestation or included in a syndrome, based on a semiological and aetiological classification.
R Almeida +3 more
doaj +1 more source
Fetal Pain Perception: Legislative Assertions and Developmental Neuroscience
Annals of the Child Neurology Society, EarlyView.ABSTRACT Background Pain perception is a conscious experience, but neither pain nor consciousness is defined in the developing human fetus. Emergent consciousness may be regarded as a phenomenon that ultimately arises from an essential minimum of functional neuronal connectivity. Proposed U.S.
William D. Graf +9 more
wiley +1 more source
From glycogen metabolism to Lafora disease [PDF]
, 2016 Glycogen synthesis is normally absent in neurons. However, inclusion bodies resembling abnormal glycogen accumulate in several neurological diseases, particularly in progressive myoclonus epilepsy or Lafora disease.
Guinovart, Joan
core
Ataxia in children: early recognition and clinical evaluation [PDF]
, 2017 Background: Ataxia is a sign of different disorders involving any level of the nervous system and consisting of impaired coordination of movement and balance.
Falsaperla, Raffaele +6 more
core +1 more source
Environmental and Molecular Mutagenesis, EarlyView.Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons +17 more
wiley +1 more source
Post-hypoxic myoclonus: Differentiating benign and malignant etiologies in diagnosis and prognosis
Clinical Neurophysiology Practice, 2017 Neurological function following cardiac arrest often determines prognosis. Objective tests, including formal neurological examination and neurophysiological testing, are performed to provide medical providers and decision-makers information to help guide
Brin Freund, Peter W. Kaplan
doaj +1 more source
Exploring the role of apolipoprotein ε4 in progressive myoclonic epilepsy type 1
Epileptic Disorders, EarlyView.Abstract Objective Progressive myoclonic epilepsy type 1 (EPM1) is a neurodegenerative disease caused by biallelic variants in the cystatin B (CSTB) gene. Despite a progressive course, phenotype severity varies among patients, even within families. We studied the potential role of APOE ε4 in modifying phenotypic diversity in EPM1, given its established
Janina Gunnar +10 more
wiley +1 more source
Paraneoplastic Opsoclonus-Myoclonus Syndrome as a Rare Presentation of Small-Cell Lung Cancer [PDF]
, 2022 Inês Moreira +2 more
openalex +1 more source