Results 151 to 160 of about 40,635 (255)

Author Correction: High-dose nusinersen for spinal muscular atrophy: a phase 3 randomized trial. [PDF]

Nat Med
Finkel RS, Crawford TO, Mercuri E, Sumner CJ, Garcia Romero MDM, Day JW, Montes J, Sun P, Tichler B, Paradis AD, Boesch E, Inra J, Littauer R, Sohn J, Monine M, Gambino G, Foster R, Farewell R, Fradette S.   +18 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

Free flap reconstruction of a cast-related pressure ulcer in a pediatric patient with spinal muscular atrophy. [PDF]

JPRAS Open
Adıgüzel İF, Yenidünya MK.
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

Ultrasound-guided hydrodissection of the subclavius muscle region in neurogenic thoracic outlet syndrome: a case report. [PDF]

Front Med (Lausanne)
Yoon Y, Lam KHS, Lee J, Lim J, Hwang J, Shin R, Suryadi T, Suhaimi A, Choi J, Ko G.   +9 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

Utility of Far-Field Potentials as a Biomarker of Neurodegeneration in Spinal Muscular Atrophy. [PDF]

Muscle Nerve
Calma AD, Pavey N, Silva CS, Tsuji Y, Ghapar AA, Morris K, Kiernan MC, Farrar MA, Menon P, Vucic S.   +9 more
europepmc   +1 more source

Presynaptic Congenital Myasthenic Syndromes

Muscle &Nerve, EarlyView.
ABSTRACT Presynaptic congenital myasthenic syndromes (CMS) encompass a large number of rare neurologic disorders caused by impaired release of acetylcholine (ACh) from motor nerve terminals. There are two main groups of presynaptic CMS: one in which the amount of ACh in synaptic vesicles (SV) is diminished and another in which the mechanism of synaptic
Ricardo A. Maselli
wiley   +1 more source

A type IV spinal muscular atrophy with gastrocnemius pseudohypertrophy caused by SMN1 deletion: a case report and literature review. [PDF]

BMC Neurol
Xi H, He W, Jiang H, Xie W, Yang Y, Yang Y, Diao K, Yang W, Li H.   +8 more
europepmc   +1 more source