Results 71 to 80 of about 2,996 (188)
Clinical and Translational Science, Volume 19, Issue 1, January 2026.ABSTRACT Clinical genomics and pharmacogenomics have largely remained separate fields, though some genetic variants have overlapping disease risk and drug implications. However, the extent of this overlap is not well studied. To explore this gap, we cross‐referenced genes from the American College of Medical Genetics Secondary Findings v3.2 list with ...
Josiah D. Allen +3 more
wiley +1 more source
Acta Neurologica Scandinavica, Volume 2026, Issue 1, 2026.Introduction Triple seronegative myasthenia gravis (tSNMG) constitutes a distinct subgroup of MG that, despite the absence of recognized pathogenetic antibodies directed against the acetylcholine receptor (AChR), muscle‐specific tyrosine kinase (MuSK), or low‐density lipoprotein receptor–related protein 4 (LRP4), is considered to have an autoimmune ...
Dimitra Veltsista +5 more
wiley +1 more source
Nicotinic AChR in Congenital Myasthenic Syndromes
, 2013 About 20 % of the identified cases of congenital myasthenic syndromes are due to defects causing overstimulation of endplate ACh receptors, with consequent excessive Ca2+ entry, endplate structural damage, and impairment of the neuromuscular ...
FUCILE, Sergio +3 more
core +1 more source
DOK7 congenital myasthenic syndrome
Annals of the New York Academy of Sciences, 2012 Despite being a fairly recent discovery, DOK7 congenital myasthenic syndrome (CMS) is the third most common form of CMS in the United Kingdom. DOK7 is a postsynaptic protein associated with the AChR clustering pathway. In contrast to AChR deficiency due to epsilon subunit mutations, onset of DOK7 CMS tends to be later—ages two to three years—and in ...
openaire +3 more sources
LRP4‐Related Lethal Syndromic Form of Syndactyly in Limousin Cattle
Animal Genetics, Volume 57, Issue 2, April 2026.
Joana Jacinto +5 more
wiley +1 more source
Myasthenia Gravis in a Child With Schimke Immuno‐Osseous Dysplasia: A Case Report
Clinical Case Reports, Volume 13, Issue 12, December 2025.ABSTRACT We report a rare association between Schimke immune‐osseous dysplasia and myasthenia gravis. Clinicians should be aware of potential autoimmune neuromuscular complications in SIOD, as early recognition and tailored immunosuppression may improve prognosis.
Mohamed S. Al Riyami +7 more
wiley +1 more source
Walsh & Hoyt: Congenital Myasthenic Syndromes
, 2005 Once thought to be a single clinical and pathologic entity, congenital MG is now known to be a heterogeneous group of genetic neuromuscular transmission disorders.
Preston C. Calvert, MD (retired)
core
Congenital myasthenic syndromes and transient myasthenia gravis
, 2013 Hypotonia in the neonatal period and early infancy is a common clinical finding. It can be caused by various heterogeneous disorders of different origin which might lead to diagnostic difficulties.
Szabó, Hajnalka +6 more
core
Recurrent COLQ Mutation in Congenital Myasthenic Syndrome
, 2012 Congenital myasthenic syndromes comprise clinically and genetically heterogeneous disorders resulting from presynaptic, synaptic, or postsynaptic defects.
DEMİRCİ, MEHMET +2 more
core +1 more source
Molecular characterisation of congenital myasthenic syndromes in Southern Brazil [PDF]
, 2010 Objective To perform genetic testing of patients with congenital myasthenic syndromes (CMS) from the Southern Brazilian state of Parana. Patients and methods Twenty-five CMS patients from 18 independent families were included in the study.
A. Huebner +25 more
core +1 more source