Results 201 to 210 of about 605,611 (288)

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

Long-term persistence, safety and effectiveness of nusinersen in spinal muscular atrophy: a population-based study. [PDF]

J Neurol
Aragon-Gawinska K, Nungo-Garzon NC, Muelas N, Sivera R, Sevilla T, Hervas D, Pitarch-Castellano I, Vazquez-Costa JF.   +7 more
europepmc   +1 more source

Muscle‐Specific Kinase Signaling and Its Therapeutic Potential

Muscle &Nerve, EarlyView.
ABSTRACT The function of the neuromuscular junction (NMJ) is compromised in many neuromuscular diseases (NMDs) such as autoimmune or congenital myasthenia gravis (MG), amyotrophic lateral sclerosis (ALS), spinal muscular atrophy (SMA), and muscular dystrophies.
Stine Marie Jensen, Dana L. E. Vergoossen, Maartje G. Huijbers   +2 more
wiley   +1 more source

Risdiplam treatment in adults with spinal muscular atrophy: a single-center, real-world study. [PDF]

BMC Neurol
Leonardis L, Pukšič Šimek P, Kadenšek S, Koritnik B.   +3 more
europepmc   +1 more source

Reachable Workspace as a Clinical Outcome for Upper Extremity Function: A Narrative Review

Muscle &Nerve, EarlyView.
ABSTRACT Motion sensing technology can be utilized to capture detailed upper extremity (UE) motion to reconstruct an individual's three‐dimensional (3D) reachable workspace (RWS). The RWS can be quantified as relative surface area (RSA), providing an innovative surrogate measure to assess UE mobility and function.
Jay J. Han, Lawrence J. Hayward, Christina Adams, Juan Perez‐Ibarra   +3 more
wiley   +1 more source

From Survival to Participation: Early Powered Mobility in the New Era of Spinal Muscular Atrophy Type I. [PDF]

J Clin Med
Díaz-López CI, Palomo-Carrión R.
europepmc   +1 more source

Electrical Modalities in the Rehabilitation of Peripheral Nerve Injuries: State of the Literature and Current Clinical Applications

Muscle &Nerve, EarlyView.
ABSTRACT Peripheral nerve injuries (PNIs) are a common cause of long‐term motor and sensory disability despite advances in microsurgical repair. Functional recovery following PNI depends not only on axonal regeneration, but also on preservation of distal nerve pathways, maintenance of neuromuscular junction integrity, prevention of irreversible muscle ...
Sarah M. Smith, Kirsten M. Schlosser, Ranee Munaim, Stephanie H. Vu, JulieAnn H. Uh, Yusha K. Liu   +5 more
wiley   +1 more source

Spinal muscular atrophy with five <i>SMN2</i> copies: Phenotypic heterogeneity and implications for newborn screening and treatment decisions. [PDF]

Front Neurol
Parmova O, Adamova B.
europepmc   +1 more source

Targeted Muscle Reinnervation for Intuitive Prosthetic Control

Muscle &Nerve, EarlyView.
ABSTRACT The convergence of medical and technological advances has led to a substantial expansion of therapeutic approaches for patients with limb amputations. Targeted muscle reinnervation (TMR) is one of the strategies to improve control of bionic arms and has been applied for more than two decades. Through surgical rewiring of the nerves responsible
Nitay Maile, Laura Ferrante, Dario Farina, Ulla Al Dabbass, Oskar C. Aszmann, Vlad Tereshenko   +5 more
wiley   +1 more source

Case Report: Spinal muscular atrophy with IgA nephropathy: a coincidence or association? [PDF]

Front Pediatr
Gu Y, Wang L, Yuan X, Han Y, Han P, Cui J, Wang X, Huang Y, Zhang L, Li C.   +9 more
europepmc   +1 more source