Results 61 to 70 of about 2,996 (188)

From the cytosol to the inner membrane: biogenesis of the mitochondrial carrier family

Protein Science, Volume 35, Issue 4, April 2026.
Abstract Mitochondrial carrier proteins are essential for cellular physiology as they are active in a wide range of metabolic pathways including production of cellular energy, amino acid synthesis, redox balance and ion homeostasis. The double membrane of mitochondria provides a tightly gated environment through which carrier proteins facilitate the ...
Catherine S. Palmer, Phoebe J. Leeming, Diana Stojanovski   +2 more
wiley   +1 more source

A Case Report of Congenital Myasthenia Gravis Presenting With Respiratory Distress

Caspian Journal of Neurological Sciences, 2018
Congenital Myasthenic Syndromes (CMS) are rare inherited disorders characterized by dysfunction of neuromuscular transmission at the neuromuscular junction. Most patients with congenital myasthenic syndromes present in the infancy.
Reza Shervin Badv, Sara Memarian, Masoud Ghahvechi, Hossein Farshad Moghaddam, Maryam Saidi, Reihaneh Mohsenipour, Parisa Rahmani, Bahram Yarali, Mojtaba Gorji, Behdad Gharib   +9 more
doaj  

Congenital Vocal Cord Paralysis and Late-Onset Limb-Girdle Weakness in MuSK–Congenital Myasthenic Syndrome

Frontiers in Neurology, 2019
A 30-year-old woman with congenital vocal cord paralysis presented for evaluation of fatigable proximal upper limb weakness and difficulty maintaining the neck erect.
Marcus V. Pinto, Jacqui-Lyn Saw, Margherita Milone   +2 more
doaj   +1 more source

Adult Survival in SMA Type 1: A 23‐Year Journey With Home Ventilation and Multidisciplinary Support

Clinical Case Reports, Volume 14, Issue 3, March 2026.
Diffuse brain atrophy and calvarial hyperostosis in a long‐term survivor of very early onset SMA type 1. ABSTRACT Spinal muscular atrophy (SMA) type 1 is a severe autosomal recessive neuromuscular disorder caused by loss‐of‐function variants in the SMN1 gene, typically leading to death within the first two years without intervention. Long‐term survival
Antonio E. Camelo‐Filho, Renata Monteiro Jovino, Betina S. Tomaz, Paulo R. Nóbrega, Marcelo A. Holanda   +4 more
wiley   +1 more source

The Structure, Function, and Physiology of the Fetal and Adult Acetylcholine Receptor in Muscle

Frontiers in Molecular Neuroscience, 2020
The neuromuscular junction (NMJ) is a highly developed synapse linking motor neuron activity with muscle contraction. A complex of molecular cascades together with the specialized NMJ architecture ensures that each action potential arriving at the motor ...
Hakan Cetin, Hakan Cetin, David Beeson, Angela Vincent, Richard Webster   +4 more
doaj   +1 more source

Incidence and Prevalence of Congenital Myopathies ‐ A Population‐Based Study From Western Sweden

Annals of Neurology, Volume 99, Issue 2, Page 382-392, February 2026.
Objective Congenital myopathies are a group of rare genetic muscle disorders. Previous studies have estimated point prevalences which only include surviving individuals. Our aim was to perform an epidemiological study with strict inclusion criteria, using modern diagnostic technology to present both incidences and prevalences, and to describe the ...
Eva Michael, Carola Hedberg‐Oldfors, Mar Tulinius, Sara Nordström, Anders Oldfors, Niklas Darin   +5 more
wiley   +1 more source

Congenital myasthenic syndromes and the neuromuscular junction.

, 2014
PURPOSE OF REVIEW: Congenital myasthenic syndromes (CMS) are a group of heterogeneous inherited disorders caused by mutations in genes encoding proteins essential for the integrity of neuromuscular transmission.
Cruz, PM, Palace, J, Palace, Jacqueline, Beeson, D, Beeson, David   +4 more
core   +1 more source

The impact of Hnrnpl deficiency on transcriptional patterns of developing muscle cells

FEBS Open Bio, Volume 16, Issue 1, Page 178-198, January 2026.
We performed nanopore whole‐transcriptome sequencing comparing RNA from Hnrnpl‐knockdown versus control C2C12 myoblasts to investigate the contributions of Hnrnpl to muscle development. Our results indicate that Hnrnpl regulates the expression of genes involved with Notch signaling and skeletal muscle, particularly splicing patterns of specific muscle ...
Hannah R. Littel, Mekala Gunasekaran, Audrey L. Daugherty, Natalya M. Wells, Johnnie Turner, Christine C. Bruels, Christina A. Pacak, Isabelle Draper, Peter B. Kang   +8 more
wiley   +1 more source

Compound Heterozygous CHAT Gene Mutations of a Large Deletion and a Missense Variant in a Chinese Patient With Severe Congenital Myasthenic Syndrome With Episodic Apnea

Frontiers in Pharmacology, 2019
Congenital myasthenic syndromes (CMSs) are a group of inherited disorders caused by genetic defects in neuromuscular junctions. Mutations in CHAT, encoding choline acetyltransferase, cause congenital myasthenic syndrome with episodic apnea (CMS-EA), a ...
Zhimei Liu, Li Zhang, Li Zhang, Danmin Shen, Changhong Ding, Xinying Yang, Weihua Zhang, Jiuwei Li, Jie Deng, Shuai Gong, Jun Liu, Suyun Qian, Fang Fang   +12 more
doaj   +1 more source

Add‐On Telitacicept Significantly Improves Outcome of Patients With Refractory Ocular Myasthenia Gravis a Real‐World Case Series

Brain and Behavior, Volume 16, Issue 1, January 2026.
6/7 patients achieved CMI by the third follow‐up, sustained to the fourth follow‐up, and 4/6 reached MSE by the fifth follow‐up. First real‐world evidence of adding telitacicept efficacy in refractory ocular MG symptoms Abstract Introduction Refractory ocular myasthenia gravis (MG) represents a significant therapeutic challenge, as conventional ...
Jing Lin, Yue Li, Mengcui Gui, Bitao Bu, Zhijun Li   +4 more
wiley   +1 more source