Results 131 to 140 of about 99,848 (257)

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

Anti-HMGCR Myopathy During NSTEMI Evaluation: The Statin Paradox and Troponin Trap. [PDF]

JACC Case Rep
Quasem K, Carrasquel-Alvarez M, Maser H, Russell C, Barker T, Thulluri R, Felice J, Nadipalli V, Shah I, Hong C.   +9 more
europepmc   +1 more source

The Differing Phenotypes of the Three Most Common Postsynaptic Congenital Myasthenic Syndromes Governed by Their Underlying Molecular Pathogenic Mechanisms

Muscle &Nerve, EarlyView.
ABSTRACT The congenital myasthenic syndromes are rare disorders of impaired signal transmission at the neuromuscular junction. Despite next generation sequencing facilitating the identification of variants in myasthenic‐associated genes, these variants are frequently of unknown significance and the clinical diagnosis can be delayed.
David Beeson
wiley   +1 more source

Reducing Body Myopathy in Female Patients With <i>FHL1</i> Variants Showing Rapid and Severe Evolution Mimicking Inflammatory Myopathy: A Case Series. [PDF]

Neurol Genet
Severa G, Barnerias C, Gitiaux C, Laforet P, Desguerre I, Souvannanorath S, Periou B, Bastu S, Prigent H, Romero NB, Bonaldo P, Merlini L, Cenacchi G, Pegoraro E, Bello L, Rendu J, Villanova M, Carlier RY, Malfatti E, Authier FJ.   +19 more
europepmc   +1 more source

Clinical Characteristics and Treatment Management of Seronegative Myasthenia Gravis: A Systematic Review of the Literature

Muscle &Nerve, EarlyView.
ABSTRACT Seronegative myasthenia gravis (SNMG) is characterized by the absence of detectable autoantibodies against known MG targets, despite clinical and electrophysiological evidence of a postsynaptic neuromuscular junction disorder. The aim of this systematic review was to better define clinical features, diagnostic clues and treatment outcome of ...
Massimiliano Ugo Verza, Mattia Schiavolin, Francesca Beretta, Sara Cornacchini, Antonio Lotti, Gregorio Spagni, Valentina Damato   +6 more
wiley   +1 more source

Proteomic Changes Associated with Wooden Breast and White Striping in the <i>Pectoralis major</i> of Hubbard × Ross 708 Broilers: A Pilot Study. [PDF]

Animals (Basel)
Karolak MC, Yaman A, Zapata I, Cressman MD, Wick MP.   +4 more
europepmc   +1 more source

Cardiopulmonary Exercise Testing (CPET) Guided Sub‐Anaerobic Threshold Rehabilitation in MELAS Syndrome: A Case Report

The Kaohsiung Journal of Medical Sciences, EarlyView.
Yu‐Lien Tsai, Kun‐Yuan Cheng, Yen‐Sen Lu, Ko‐Long Lin   +3 more
wiley   +1 more source

Enabling Functional Independence: A Scoping Review of Upper Extremity Assistive Devices for Adults With Progressive Neuromuscular Diseases

Muscle &Nerve, EarlyView.
This scoping review summarizes the spectrum of upper extremity assistive devices for adults with progressive neuromuscular diseases, ranging from low‐tech supports to advanced robotics, exoskeletons, and brain‐computer interface systems. While these technologies show promise for improving enabling function, current evidence is largely limited to ...
Katherine M. Burke, Stephanie Johnson, Kayla Chomko, Angela Escalante, Kendall C. Hall, Melis Lydston, Courtney Uek, Gabriella Casagrande, Hyun Jung Kim, James Arnold, David Pont‐Esteban, Harrison Young, Conor Walsh, Sabrina Paganoni   +13 more
wiley   +1 more source

Rash-Negative Dermatomyositis-Spectrum Overlap Myositis With PM/Scl Positivity Presenting With Progressive Pharyngeal Dysphagia. [PDF]

Cureus
Rivera K, Kesari C.
europepmc   +1 more source

Exploring the Value of Quantitative Muscle Ultrasound in Neuromuscular Junction Disorders: A Pilot Study

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Quantitative muscle ultrasound (QMUS) is a validated technique for assessing muscle pathology, yet its role in disorders primarily affecting the neuromuscular junction (NMJ) remains unclear. This pilot study aimed to explore whether QMUS is associated with structural muscle changes in patients with acquired or genetic NMJ ...
Artor Pogosean, Maarika Liik, Nens van Alfen, Anna Rostedt Punga   +3 more
wiley   +1 more source