Results 191 to 200 of about 605,611 (288)

Neonatal screening for spinal muscular atrophy: Report of a multicenter study in Brazil. [PDF]

Genet Mol Biol
Oliveira Netto AB, Hentschke-Lopes M, Pasetto FB, Anjos TARD, Andrade GS, Sousa MIA, Moraes IDS, Trapp FB, Brusius-Facchin AC, Saute JAM, Becker MM, Coutinho VLS, Vilella-Arias S, Ponci V, França Junior MC, Galera MF, Amorim T, Giugliani R.   +17 more
europepmc   +1 more source

Gray Matter Microstructure Measured Using Diffusion Imaging as a Biomarker of Severity in Lewy Body Diseases

Movement Disorders, EarlyView.
Abstract Background Despite widespread cortical involvement in Lewy body diseases, conventional gray matter magnetic resonance imaging (MRI) shows limited sensitivity. Diffusion‐weighted MRI‐derived microstructural measures have shown utility in Alzheimer's disease, but their application across the Lewy body disease spectrum remains limited ...
Angeliki Zarkali, Ivelina Dobreva, Naomi Hannaway, Rohan Bhome, George E.C. Thomas, Steffani Carrera, Amanda J. Heslegrave, Elena Veleva, Henrik Zetterberg, Rimona S. Weil   +9 more
wiley   +1 more source

Behavioral barriers in the management of spinal muscular atrophy: The role of procrastination, regret, and burnout. [PDF]

PLoS One
Maurino J, Carrera-García L, Castro-Fernández P, Málaga I, Nascimento A, Saposnik G.   +5 more
europepmc   +1 more source

Key Interventions in Friedreich's Ataxia and Their Impact on Patient Outcomes: A Systematic Review

Movement Disorders, EarlyView.
Abstract Friedreich's ataxia (FA) is a rare neurodegenerative disease with multisystemic symptoms that requires multidisciplinary care. This systematic review summarizes available pharmacological and nonpharmacological interventions, their outcomes, and alignment with patient‐centered care domains, as well as their impact on these domains.
Dorota Sarwinska, Maresa Buchholz, Audrey Iskandar, Marcus Grobe‐Einsler, Thomas Klockgether, Jennifer Faber, Bernhard Michalowsky   +6 more
wiley   +1 more source

Modeling the Budget Impact of Disease-Modifying Therapies in Infantile-Onset Spinal Muscular Atrophy. [PDF]

Clin Drug Investig
Abuloha S, Goodin A, Jiao T, Corti M, Svensson M.   +4 more
europepmc   +1 more source

Recent Advances in Cryogel Applications for Musculoskeletal Regeneration

Medicinal Research Reviews, EarlyView.
ABSTRACT Hydrogels have been widely used in tissue engineering due to their high‐water content and biocompatibility, yet their densely cross‐linked microstructure inherently limits cell infiltration, mass transport, and mechanical support. Cryogels, formed through partial freezing and crosslinking under subzero conditions, provide unique 3D macroporous
Dohee Kim, Shinwon Kang, Hyejin Jo, Inseon Kim, Seunghun S. Lee   +4 more
wiley   +1 more source

Gene therapy benefits in a small cohort of symptomatic 5q spinal muscular atrophy patients and real world pediatric outcomes. [PDF]

J Pediatr (Rio J)
Santos ARBV, Ferreira LS, Santos TS, Mazzeu JF, Sorte NCAB.   +4 more
europepmc   +1 more source

Navigating the Complexity: A Comprehensive Review of GSK‐3 Inhibition in Regenerative Medicine

Medicinal Research Reviews, EarlyView.
ABSTRACT Glycogen synthase kinase‐3 (GSK‐3) is a central regulator of numerous cellular signaling pathways, with critical roles in metabolism, proliferation, differentiation, and tissue regeneration. This review explores the multifaceted effects of pharmacological GSK‐3 inhibition across multiple body districts, focusing on its highly context‐dependent
Davide Schiroli, Alessia Merra, Chiara Marraccini, Lucia Merolle, Graziella Pellegrini, Eleonora Maurizi   +5 more
wiley   +1 more source

AGRN‐, LRP4‐, MUSK‐Related CMS: Clinical, Neurophysiological, Morphological, Genetic and Pathological Mechanisms

Muscle &Nerve, EarlyView.
ABSTRACT Congenital myasthenic syndromes (CMS) are inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular junction (NMJ) function. Pathogenic variants have been identified in more than 35 genes, underscoring the complexity of synaptic biology and the wide range of mechanisms that can compromise neuromuscular ...
Rocio‐Nur Villar‐Quiles, Damien Sternberg, Marie‐Christine Nougues, Arnaud Isapof, Bruno Eymard, Stéphanie Bauché   +5 more
wiley   +1 more source

Impact of Intermittent Positive Pressure Breathing on Thoracic Growth in Children With Type 1 Spinal Muscular Atrophy. [PDF]

Pediatr Pulmonol
Thébault C, Denamur S, Thomas G, Barzic A, Schwartz E, Dupuis M, Nougues MC, Isapof A, Aubertin G, Taytard J.   +9 more
europepmc   +1 more source