Results 161 to 170 of about 116,069 (304)

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

Muscle biopsy in genomic era: real-world diagnostic and clinical implications over 10 years. [PDF]

J Neurol
Zoppi D, Russo R, Boemia V, De Maria M, Marciano E Ortolano A, Vallefuoco F, D'Amico E, Di Costanzo G, Russo A, Somma T, Nolano M, Iodice R, Cavallo LM, Manganelli F, Ruggiero L.   +14 more
europepmc   +1 more source

Steroid myopathy: some unresolved issues.

, 2011
Steroid myopathy is a non-inflammatory toxic myopathy that occurs as side effect of exogenous and endogenous glucocorticoid excess. The purpose of this review is to examine issues that limit our understanding of this myopathy with respect to nosology ...
D'ANTONA, GIUSEPPE, Motta G, Lanfranco F, Allasia S, Arvat E, Minetto MA   +5 more
core  

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

Antibodies against Ro52 in idiopathic inflammatory myopathies are associated with objective sicca symptoms. [PDF]

Front Immunol
Meinecke A, Seeliger B, Schupp JC, Skripuletz T, Gödecke V, Holzer MT, Ernst D, Witte T.   +7 more
europepmc   +1 more source

Myopathy due to HMGCR antibodies in adult mimicking muscular dystrophy associated with cancer and statin exposure – narrative review of the literature – case report

, 2018
Alzira Alves de Siqueira Carvalho,1 Vinicius Gomes da Silva,1 Edmar Zanoteli,2 David Feder3 1Laboratory of Neuromuscular Disease, Department of Neurosciences, School of Medicine of ABC, Santo André, São Paulo, Brazil; 2Department of ...
Zanoteli E, Silva VG, Feder D, Carvalho AAS   +3 more
core  

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

POLG‐Related Parkinsonism with Good Response to Deep Brain Stimulation

Movement Disorders Clinical Practice, EarlyView.
Evdokia Efthymiou, Fabian Büchele, Sujitha Mahendran, Lennart Stieglitz, Bettina Balint   +4 more
wiley   +1 more source

A Hybrid Rule‐Based and Large Language Model Artificial Intelligence System for Electrodiagnostic Reporting: Two‐Center Retrospective Evaluation

Muscle &Nerve, EarlyView.
ABSTRACT Introduction/Aims Electrodiagnostic (EDX) studies comprise nerve conduction studies (NCS) and needle electromyography (EMG). However, EDX reporting is heterogeneous across laboratories and often requires time‐consuming documentation. We aimed to evaluate a hybrid rule‐based and constrained large language model (LLM) system that drafts EDX ...
Yesung Jung, Min Kyun Sohn, Ja Young Choi, Kang Hee Cho   +3 more
wiley   +1 more source

Correction: Consistent MRI pattern in ADSS1 myopathy with variable clinical presentations: A Korean cohort study. [PDF]

PLoS One
Kim SH, Choi Y, Park HJ, Hong JM, Choi YC.   +4 more
europepmc   +1 more source