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1999 1
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2007 2
2010 1
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2023 2
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Page 1
Myasthenia gravis.
Juel VC, Massey JM. Juel VC, et al. Orphanet J Rare Dis. 2007 Nov 6;2:44. doi: 10.1186/1750-1172-2-44. Orphanet J Rare Dis. 2007. PMID: 17986328 Free PMC article. Review.
Contemporary prevalence rates approach 1/5,000. MG presents with painless, fluctuating, fatigable weakness involving specific muscle groups. Ocular weakness with asymmetric ptosis and binocular diplopia is the most typical initial presentation, while early or isolat …
Contemporary prevalence rates approach 1/5,000. MG presents with painless, fluctuating, fatigable weakness involving specific …
Myasthenia gravis: diagnosis.
Meriggioli MN, Sanders DB. Meriggioli MN, et al. Semin Neurol. 2004 Mar;24(1):31-9. doi: 10.1055/s-2004-829594. Semin Neurol. 2004. PMID: 15229790 Review.
The diagnosis of MG therefore depends on the recognition of this distinctive pattern of fatigable weakness. Laboratory confirmation of the clinical diagnosis may be obtained using pharmacological, electrophysiological, and serological (immunological) tests. ...
The diagnosis of MG therefore depends on the recognition of this distinctive pattern of fatigable weakness. Laboratory confirm …
Congenital myasthenic syndromes.
Sieb JP, Kraner S, Steinlein OK. Sieb JP, et al. Semin Pediatr Neurol. 2002 Jun;9(2):108-19. doi: 10.1053/spen.2002.33803. Semin Pediatr Neurol. 2002. PMID: 12138995 Review.
Clinical evidence for the diagnosis of a CMS includes a history of increased fatigable weakness since infancy or early childhood, a decremental EMG response, and the absence of acetylcholine receptor (AChR) antibodies. ...
Clinical evidence for the diagnosis of a CMS includes a history of increased fatigable weakness since infancy or early childho …
Distal upper limb involvement in myasthenia-myositis association.
Lauletta A, Fionda L, Merlonghi G, Leonardi L, Morino S, Bucci E, Tufano L, Alfieri G, Costanzo R, Rossini E, Salvetti M, Antonini G, Garibaldi M. Lauletta A, et al. Neurol Sci. 2023 Feb;44(2):719-722. doi: 10.1007/s10072-022-06489-8. Epub 2022 Nov 7. Neurol Sci. 2023. PMID: 36336775
The patient, a 47-year-old man with 10-year history of anti-acetylcholine receptor (AChR) and anti-titin antibody-positive MG with thymoma, developed a progressive, diffuse, and non-fatigable weakness predominant in distal upper limb muscles, unresponsive to acetylc …
The patient, a 47-year-old man with 10-year history of anti-acetylcholine receptor (AChR) and anti-titin antibody-positive MG with thymoma, …
A nomenclature and classification for the congenital myasthenic syndromes: preparing for FAIR data in the genomic era.
Thompson R, Abicht A, Beeson D, Engel AG, Eymard B, Maxime E, Lochmüller H. Thompson R, et al. Orphanet J Rare Dis. 2018 Nov 26;13(1):211. doi: 10.1186/s13023-018-0955-7. Orphanet J Rare Dis. 2018. PMID: 30477555 Free PMC article.
BACKGROUND: Congenital myasthenic syndromes (CMS) are a heterogeneous group of inherited neuromuscular disorders sharing the common feature of fatigable weakness due to defective neuromuscular transmission. Despite rapidly increasing knowledge about the genetic orig …
BACKGROUND: Congenital myasthenic syndromes (CMS) are a heterogeneous group of inherited neuromuscular disorders sharing the common feature …
Congenital Myasthenic Syndrome From a Single Center: Phenotypic and Genotypic features.
Prior DE, Ghosh PS. Prior DE, et al. J Child Neurol. 2021 Jul;36(8):610-617. doi: 10.1177/0883073820987755. Epub 2021 Jan 20. J Child Neurol. 2021. PMID: 33471587
The phenotype varied based on the genetic variants, though most patients have generalized fatigable weakness affecting ocular, bulbar, and extremity muscles. ...
The phenotype varied based on the genetic variants, though most patients have generalized fatigable weakness affecting ocular, …
Detection of myasthenia gravis using electrooculography signals.
Liang T, Boulos MI, Murray BJ, Krishnan S, Katzberg H, Umapathy K. Liang T, et al. Annu Int Conf IEEE Eng Med Biol Soc. 2016 Aug;2016:896-899. doi: 10.1109/EMBC.2016.7590845. Annu Int Conf IEEE Eng Med Biol Soc. 2016. PMID: 28268468
Myasthenia gravis (MG) is an autoimmune neuromuscular disorder resulting from skeletal muscle weakness and fatigue. An early common symptom is fatigable weakness of the extrinsic ocular muscles; if symptoms remain confined to the ocular muscles after a few years, th …
Myasthenia gravis (MG) is an autoimmune neuromuscular disorder resulting from skeletal muscle weakness and fatigue. An early common symptom …
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations.
Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Mallebrera CJ, Nascimento A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A, Lochmüller H. Guergueltcheva V, et al. J Neurol. 2012 May;259(5):838-50. doi: 10.1007/s00415-011-6262-z. Epub 2011 Oct 6. J Neurol. 2012. PMID: 21975507
Additional patients with CMS, but without tubular aggregates, and patients with non-fatigable weakness with tubular aggregates were also screened. In most patients with GFPT1 mutations, onset of the disease occurs in the first decade of life with characteristic limb …
Additional patients with CMS, but without tubular aggregates, and patients with non-fatigable weakness with tubular aggregates …
Genetic and clinical evaluation of congenital myasthenic syndromes with long-term follow-up: experience of a tertiary center in Turkey.
Yildiz EP, Kilic MA, Yalcin EU, Kurekci F, Avci R, Hacıfazlıoğlu NE, Ceylaner S, Gezdirici A, Çalışkan M. Yildiz EP, et al. Acta Neurol Belg. 2023 Oct;123(5):1841-1847. doi: 10.1007/s13760-022-02090-0. Epub 2022 Sep 12. Acta Neurol Belg. 2023. PMID: 36094697
The most commonly determined initial finding was eyelid ptosis, followed by fatigable weakness, and respiratory insufficiency. Although the most commonly used drug was pyridostigmine, we have experienced that caution should be exercised as it may worsen some types o …
The most commonly determined initial finding was eyelid ptosis, followed by fatigable weakness, and respiratory insufficiency. …
15 results