Results 21 to 30 of about 2,996 (188)

Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes [PDF]

Nature Communications
Exploring the molecular basis of disease severity in rare disease scenarios is a challenging task provided the limitations on data availability. Causative genes have been described for Congenital Myasthenic Syndromes (CMS), a group of diverse minority ...
Iker Núñez-Carpintero, Maria Rigau, Mattia Bosio, Emily O’Connor, Sally Spendiff, Yoshiteru Azuma, Ana Topf, Rachel Thompson, Peter A. C. ’t Hoen, Teodora Chamova, Ivailo Tournev, Velina Guergueltcheva, Steven Laurie, Sergi Beltran, Salvador Capella-Gutiérrez, Davide Cirillo, Hanns Lochmüller, Alfonso Valencia   +17 more
doaj   +2 more sources

Congenital myasthenic syndromes in 2012. [PDF]

Curr Neurol Neurosci Rep, 2012
Congenital myasthenic syndromes (CMS) represent a heterogeneous group of disorders in which the safety margin of neuromuscular transmission is compromised by one or more specific mechanisms. Clinical, electrophysiologic, and morphologic studies have paved the way for detecting CMS-related mutations in proteins residing in the nerve terminal, the ...
Engel AG.
europepmc   +4 more sources

Congenital myasthenic syndromes: a retrospective natural history study of respiratory outcomes in a single centre [PDF]

Brain Communications, 2023
Jordan Poulos, Martin Samuels, Jacqueline Palace   +2 more
exaly   +2 more sources

Salbutamol in Congenital Myasthenic Syndrome: A Systematic Review [PDF]

BMC Neurology
Background Congenital myasthenic syndromes (CMS) are inherited disorders of neuromuscular transmission with few effective treatments. Salbutamol, a β2-adrenergic agonist, has shown anecdotal benefit, yet no comprehensive assessment of its clinical ...
Muhammad Takhman, Reem Shihab, Moath Hattab, Hala O. Abdallah, Mohammad Bdair, Hernan D. Gonorazky, Issa Alawneh   +6 more
doaj   +2 more sources

Prevalence and Geographical Distribution of Patients With Congenital Myasthenic Syndromes in the United Kingdom. [PDF]

Muscle Nerve
ABSTRACT Introduction/Aims Congenital myasthenic syndromes (CMS) are often underdiagnosed due to phenotypic overlap with other neuromuscular disorders. Limited epidemiological data and low awareness hinder early diagnosis, which is key for effective treatment.
Rossini E, Henehan L, Dong YY, Bettolo CM, Munot P, Jungbluth H, Norwood F, Hughes I, Beeson D, Ramdas S, Palace J.   +10 more
europepmc   +2 more sources

Case Report: A Novel AChR Epsilon Variant Causing a Clinically Discordant Salbutamol Responsive Congenital Myasthenic Syndrome in Two Egyptian Siblings

Frontiers in Neurology, 2022
Congenital myasthenic syndromes (CMS) are inherited disorders that lead to abnormal neuromuscular transmission. Post-synaptic mutations are the main cause of CMS, particularly mutations in CHRNE.
Marta Gómez-García de la Banda, Marta Gómez-García de la Banda, Marta Gómez-García de la Banda, Emmanuel Simental-Aldaba, Emmanuel Simental-Aldaba, Nagia Fahmy, Damien Sternberg, Damien Sternberg, Patricia Blondy, Susana Quijano-Roy, Susana Quijano-Roy, Susana Quijano-Roy, Susana Quijano-Roy, Edoardo Malfatti, Edoardo Malfatti, Edoardo Malfatti, Edoardo Malfatti   +16 more
doaj   +1 more source

The unfolding landscape of the congenital myasthenic syndromes [PDF]

Annals of the New York Academy of Sciences, 2018
Xin-Ming Shen
exaly   +2 more sources

Electrophysiological evaluation of the neuromuscular junction: a brief review

Arquivos de Neuro-Psiquiatria, 2023
The nerve terminal and muscle membrane compose the neuromuscular junction. After opening the voltage-gated calcium channels, action potentials from the motor axons provoke a cascade for the acetylcholine release from synaptic vesicles to the synaptic ...
João Aris Kouyoumdjian, Eduardo de Paula Estephan   +1 more
doaj   +1 more source

A Rare Clinical Presentation of Variegate Porphyria. [PDF]

Mol Genet Genomic Med
WGS redirected the diagnostic focus, underscoring the complex interplay between porphyria and a potential MYMK‐related neuromuscular phenotype. ABSTRACT Background Variegate porphyria is a rare heme biosynthesis disorder caused by pathogenic variants in the PPOX gene.
Viakhireva I, Murtazina A, Orlova A, Makretskaya N, Nikitin S, Skoblov M.   +5 more
europepmc   +2 more sources

Congenital myasthenic syndromes

Rinsho Shinkeigaku, 2012
Congenital myasthenic syndromes (CMS) are caused by germline mutations of molecules expressed at the neuromuscular junction (NMJ). Mutations in 11 molecules encoded by 15 genes have been reported in association with CMS. CMS can be classified into four clinical categories.
Andrew G. Engel, Xin-Ming Shen, Kinji Ohno, Steven M. Sine   +3 more
openaire   +5 more sources