Results 41 to 50 of about 13,537,879 (292)

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

Facioscapulohumeral Muscular Dystrophy

, 2022
Facioscapulohumeral Muscular Dystrophy is a common form of muscular dystrophy that presents clinically with progressive weakness of the facial, scapular, and humeral muscles, with later involvement of the trunk and lower extremities.
Pakula, Anna, Emerson, Charles P. Jr., Lek, Angela, DeSimone, Alec M.   +3 more
core   +1 more source

Redox homeostasis and inflammation in fibroblasts of patients with Friedreich Ataxia: a possible cross talk

Frontiers in Molecular Neuroscience
Redox homeostasis is impaired in Friedreich’s Ataxia (FRDA), a neurodegenerative disease caused by the decreased expression of the mitochondrial protein frataxin.
Andrea Quatrana, Sara Petrillo, Caterina Torda, Eleonora De Santis, Enrico Bertini, Fiorella Piemonte   +5 more
doaj   +1 more source

PKC Proteins and Muscular Dystrophy [PDF]

, 2018
Protein Kinase Cs (PKCs) are a family of 10 isoenzymes with critical roles in cell physiological processes like proliferation, differentiation, apoptosis. Muscular dystrophies are a heterogenous group of genetic degenerative diseases that affect skeletal
Elena Masselli, Marco Vitale, Mirandola P, Luca Maria Neri, Vitale M, Giuliana Gobbi, Giulia Pozzi, Masselli E, Cecilia Carubbi, neri LM, Carubbi C, Luca Neri, Galli D, Prisco Mirandola, Pozzi G, Daniela Galli, Gobbi G   +16 more
core   +1 more source

Functional analysis across model systems implicates ribosomal proteins in growth and proliferation defects associated with hypoplastic left heart syndrome

eLife
Hypoplastic left heart syndrome (HLHS) is the most lethal congenital heart disease (CHD) whose genetic basis remains elusive, likely due to oligogenic complexity. To identify regulators of cardiomyocyte (CM) proliferation relevant to HLHS, we performed a
Tanja Nielsen, Anaïs Kervadec, Jeanne L Theis, Maria A Missinato, James Marchant, Michaela Romero, Katya Marchetti, Aashna Lamba, Xin-Xin I Zeng, Marie Berenguer, Stanley M Walls, Analyne Schroeder, Katja Birker, Greg Duester, Paul Grossfeld, Timothy J Nelson, Timothy M Olson, Karen Ocorr, Rolf Bodmer, Georg Vogler, Alexandre R Colas   +20 more
doaj   +1 more source

Pulmonary and Physical Rehabilitation in Critically Ill Patients [PDF]

Acute and Critical Care, 2019
Some patients admitted to the intensive care unit (ICU) because of an acute illness, complicated surgery, or multiple traumas develop muscle weakness affecting the limbs and respiratory muscles during acute care in the ICU.
Myung Hun Jang, Myung-Jun Shin, Yong Beom Shin   +2 more
doaj   +1 more source

Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

Orphanet Journal of Rare Diseases, 2017
Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable presentation in relation to onset and severity.
I. Verhaart, A. Robertson, I. Wilson, A. Aartsma-Rus, S. Cameron, Cynthia C. Jones, Suzanne F. Cook, Hanns Lochmüller   +7 more
semanticscholar   +1 more source

Tenascin-C from the tissue microenvironment promotes muscle stem cell maintenance and function through Annexin A2

Communications Biology
Skeletal muscle regeneration occurs through the finely timed activation of resident muscle stem cells (MuSC). Following injury, MuSC exit quiescence, undergo myogenic commitment, and regenerate the muscle.
Alessandra Cecchini, Mafalda Loreti, Collin D. Kaufman, Cedomir Stamenkovic, Gabriele Guarnaccia, Alma Renero, Chiara Nicoletti, Anais Kervadec, Daphne Mayer, Shawn Delaware, Luca Caputo, Xiuqing Wei, Alexandre Colas, Pier Lorenzo Puri, Alessandra Sacco   +14 more
doaj   +1 more source

Variation of total antioxidant status after ischemic stroke [PDF]

Romanian Journal of Neurology, 2011
There is strong evidence that oxidative stress appears to be a major contributor to ischemic brain injury. Objective: To study dynamic evolution of Total Antioxidant Status (TAS) and other markers of oxidative stress after ischemic stroke and to fi nd ...
Ioana Varga, Iulian Ionescu
doaj   +1 more source

Newborn screening programs for spinal muscular atrophy worldwide in 2023

Journal of Neuromuscular Diseases
Background Spinal muscular atrophy is a rare, genetic neuromuscular disorder. Disease-modifying therapies, when administered early, have shown improved outcomes, leading to the implementation of numerous newborn screening programs for spinal muscular ...
E. Vrščaj, T. Dangouloff, D. Osredkar, L. Servais   +3 more
semanticscholar   +1 more source