Results 71 to 80 of about 181,836 (188)
Autoimmunity: Molecular Mechanisms, Biomarkers, and Therapeutic Opportunities
MedComm, Volume 7, Issue 9, September 2026.Major types of immunometabolism, epigenetics, posttranscriptional regulation, and functional reprogramming involved in autoimmune diseases. The roles of immunometabolism, epigenetics, posttranscriptional regulation, and functional reprogramming in autoimmune diseases have been a major research focus in recent years.
Jialong Kuang +10 more
wiley +1 more source
Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1
Muscle &Nerve, Volume 74, Issue S1, Page S58-S64, September 2026.ABSTRACT Glutamine:fructose‐6‐phosphate transaminase 1 (GFPT1) catalyzes the first and rate‐limiting step of the hexosamine biosynthetic pathway (HBP) to generate UDP‐GlcNAc. GFPT1 exon 9 is specifically spliced in in striated muscles, which makes a long isoform of GFPT1 (GFPT1‐L).
Kinji Ohno +5 more
wiley +1 more source
Familial Autoimmune Myasthenia Gravis (Report Of 3 Cases)
Annals of Indian Academy of Neurology, 2003 Familial Autoimmune myasthenia gravis is rare, occurring in only about 1.3% cases of myasthenia gravis (MG). Here in we report a family with three family members affected by MG. Proband presented with generalised myasthenia where as the other two
Girija A. S, Madhukar M, John John K
doaj
Fatigue in Myasthenia Gravis: Recent Advances and Emerging Concepts
Muscle &Nerve, Volume 74, Issue S1, Page S24-S30, September 2026.ABSTRACT Fatigue is a common, often disabling symptom in myasthenia gravis (MG), distinct from muscle fatigability, and strongly associated with reduced quality of life. This narrative review examines current evidence on fatigue in MG, its patient impact, and future research directions. Earlier studies, mostly small and heterogeneous, reported a highly
Yvonne J. M. Campman +3 more
wiley +1 more source
, 1991 A man with limited ocular excursions and only small amplitude saccades, improves with Tensilon, this illustrates the need to always consider ocular myasthenia in the differential diagnosis in patients with limited eye movements.
Robert B. Daroff, MD
core
BMC Neurology, 2017 Background Seronegative ocular myasthenia gravis (OMG) is diagnosed by ocular symptoms with supporting SFEMG, typically of frontalis or extensor digitorum muscles.
Goran Rakocevic +2 more
doaj +1 more source
Muscle &Nerve, Volume 74, Issue S1, Page S31-S40, September 2026.ABSTRACT Congenital myasthenic syndromes (CMS) are inherited disorders caused by mutations in genes encoding proteins essential for neuromuscular junction (NMJ) function. Pathogenic variants have been identified in more than 35 genes, underscoring the complexity of synaptic biology and the wide range of mechanisms that can compromise neuromuscular ...
Rocio‐Nur Villar‐Quiles +5 more
wiley +1 more source
Comitant Ocular Deviation in Myasthenia Gravis
, 2021 Occurrence of comitant ocular deviation in myasthenia gravis (MG) is not well ...
Tiffany Pike-Lee, MD; Jeremy Hill, MD; Jianbo Li, PhD; Gregory S. Kosmorsky, DO; Yuebing Li, MD, PhD
core
Miasthenia gravis in pediatric age
Acta Médica del Centro, 2008 Background: Myasthenia gravis is an autoimmune disorder characterized by fluctuating muscle weakness and fatigue of different muscle groups, secondary to a synaptic transmission alteration caused by the blockade and destruction of the acetylcholine ...
Liubka María Pérez Mederos +3 more
doaj
Presynaptic Congenital Myasthenic Syndromes
Muscle &Nerve, Volume 74, Issue S1, Page S41-S51, September 2026.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