Results 11 to 20 of about 207,661 (267)
Italian Journal of Pediatrics, 2020 Background Childhood epilepsies are a heterogeneous group of conditions differing in diagnostic criteria, management, and outcome. Late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative condition caused by biallelic TPP1 ...
Elisabetta Amadori +17 more
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Ferroptosis in Friedreich’s Ataxia: A Metal-Induced Neurodegenerative Disease
Biomolecules, 2020 Ferroptosis is an iron-dependent form of regulated cell death, arising from the accumulation of lipid-based reactive oxygen species when glutathione-dependent repair systems are compromised.
Piergiorgio La Rosa +4 more
doaj +1 more source
Epilepsia Open, 2023 Objective NPRL3‐related epilepsy (NRE) is an emerging condition set within the wide GATOR‐1 spectrum with a particularly heterogeneous and elusive phenotypic expression.
Alice Dainelli +11 more
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Exertional heat stroke-related rhabdomyolysis recurring twice in a 12-year-old boy athlete [PDF]
Pediatric Emergency Medicine Journal, 2022 Exertional heat stroke (EHS) is a life-threatening entity characterized by elevated core temperature with potential for multiorgan dysfunction. EHS-related rhabdomyolysis usually occurs in the early phase.
Soo Jin Kwon +5 more
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Hepatobiliary disease in XLMTM: a common comorbidity with potential impact on treatment strategies
Orphanet Journal of Rare Diseases, 2021 Background X-linked myotubular myopathy (XLMTM) is a rare congenital myopathy resulting from pathogenic variants in the MTM1 gene. Affected male subjects typically present with severe hypotonia and respiratory distress at birth and they often require ...
Adele D’Amico +10 more
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Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants
Italian Journal of Pediatrics, 2021 Background Heterozygous variants in CNTNAP2 have been implicated in a wide range of neurological phenotypes, including intellectual disability (ID), epilepsy, autistic spectrum disorder (ASD), and impaired language.
Marcello Scala +10 more
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International Journal of Endorsing Health Science Research, 2021 Background: Now, a days myofascial trigger points are tremendously occurring and become a stressful part of nearly any person at any time in a lifetime. This study compares the effects of ischemic compression pressure with spray and stretch technique to ...
Urooj Khan +3 more
doaj +1 more source
Cell Death and Disease, 2023 Duchenne muscular dystrophy is a genetic disease produced by mutations in the dystrophin gene characterized by early onset muscle weakness leading to severe and irreversible disability. The cellular and molecular consequences of the lack of dystrophin in
Xavier Suárez-Calvet +21 more
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Musculoskeletal disorders in university professors who telework due to COVID-19 pandemic
Universidad y Salud, 2022 Introduction: Teaching virtually can cause symptoms related to muscle pain due to bad postures when working with computers. Objective: To determine the presence of musculoskeletal disorders in university professors who telework during the COVID-19 ...
Angy Natalia Cristancho +2 more
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Todd Paralysis in Rolandic Epilepsy
Pediatric Neurology Briefs, 2015 Investigators from University of Gaziantep, Turkey described the clinical and EEG findings of patients with benign epilepsy of childhood with centrotemporal spikes (BECTS) experiencing postictal Todd paralysis.
Pasquale Striano, Maria Stella Vari
doaj +1 more source