[HTML][HTML] The neuromuscular junction in health and disease: molecular mechanisms governing synaptic formation and homeostasis
PM Rodríguez Cruz, J Cossins, D Beeson… - Frontiers in molecular …, 2020 - frontiersin.org
The neuromuscular junction (NMJ) is a highly specialized synapse between a motor neuron
nerve terminal and its muscle fiber that are responsible for converting electrical impulses …
nerve terminal and its muscle fiber that are responsible for converting electrical impulses …
Antibodies in myasthenia gravis and related disorders
A Vincent, J McCONVILLE, ME Farrugia… - Annals of the New …, 2003 - Wiley Online Library
Acetylcholine receptor (AChR) antibodies are present in around 85% of patients with
myasthenia gravis (MG) as measured by the conventional radioimmunoprecipitation assay …
myasthenia gravis (MG) as measured by the conventional radioimmunoprecipitation assay …
N-methyl-d-aspartate antibody encephalitis: temporal progression of clinical and paraclinical observations in a predominantly non-paraneoplastic disorder of both …
Antibodies to the N-methyl-d-aspartate subtype of glutamate receptor have been associated
with a newly-described encephalopathy that has been mainly identified in young females …
with a newly-described encephalopathy that has been mainly identified in young females …
[HTML][HTML] The neuromuscular junction and wide heterogeneity of congenital myasthenic syndromes
PM Rodríguez Cruz, J Palace, D Beeson - International journal of …, 2018 - mdpi.com
Congenital myasthenic syndromes (CMS) are genetic disorders characterised by impaired
neuromuscular transmission. This review provides an overview on CMS and highlights …
neuromuscular transmission. This review provides an overview on CMS and highlights …
Human mitochondrial DNA deletions associated with mutations in the gene encoding Twinkle, a phage T7 gene 4-like protein localized in mitochondria
JN Spelbrink, FY Li, V Tiranti, K Nikali, QP Yuan… - Nature …, 2001 - nature.com
The gene products involved in mammalian mitochondrial DNA (mtDNA) maintenance and
organization remain largely unknown. We report here a novel mitochondrial protein …
organization remain largely unknown. We report here a novel mitochondrial protein …
Factors influencing success of clinical genome sequencing across a broad spectrum of disorders
To assess factors influencing the success of whole-genome sequencing for mainstream
clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families …
clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families …
IgG1 antibodies to acetylcholine receptors in 'seronegative'myasthenia gravis
Only around 80% of patients with generalized myasthenia gravis (MG) have serum
antibodies to acetylcholine receptor [AChR; acetylcholine receptor antibody positive …
antibodies to acetylcholine receptor [AChR; acetylcholine receptor antibody positive …
Detection and characterization of MuSK antibodies in seronegative myasthenia gravis
J McConville, ME Farrugia, D Beeson… - Annals of …, 2004 - Wiley Online Library
Antibodies to rat muscle specific kinase, MuSK, have recently been identified in some
generalized “seronegative” myasthenia gravis (SNMG) patients, who are often females with …
generalized “seronegative” myasthenia gravis (SNMG) patients, who are often females with …
Autoantibodies detected to expressed K+ channels are implicated in neuromyotonia
IK Hart, C Waters, A Vincent, C Newland… - Annals of Neurology …, 1997 - Wiley Online Library
Antibody‐mediated autoimmunity underlies a diverse range of disorders, particularly in the
nervous system where the extracellular domains of ion channels and receptors are …
nervous system where the extracellular domains of ion channels and receptors are …
Aquaporin-4 antibodies in neuromyelitis optica and longitudinally extensive transverse myelitis
Background There is increasing recognition of antibody-mediated immunotherapy-
responsive neurologic diseases and a need for appropriate immunoassays. Objectives To …
responsive neurologic diseases and a need for appropriate immunoassays. Objectives To …