Results 161 to 170 of about 16,650 (226)

Mild phenotype of CHAT-associated congenital myasthenic syndrome: case series. [PDF]

Front Pediatr
Murtazina A, Borovikov A, Marakhonov A, Sharkov A, Sharkova I, Mirzoyan A, Kulikova S, Ganieva R, Zabnenkova V, Ryzhkova O, Nikitin S, Dadali E, Kutsev S.   +12 more
europepmc   +1 more source

COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum. [PDF]

Orphanet J Rare Dis
Hesami O, Ramezani M, Ghasemi A, Fatehi F, Okhovat AA, Ziaadini B, Kariminejad A, Nafissi S.   +7 more
europepmc   +1 more source

Slow-Channel Congenital Myasthenic Syndrome Due to the Novel Variant c.1396G_A in CHRNA1 That Responds Favorably to 3,4-Diaminopyridine: A Case Report. [PDF]

Cureus
Finsterer J.
europepmc   +1 more source

Clinical and genetic characterisation of a large Indian congenital myasthenic syndrome cohort. [PDF]

Brain
Polavarapu K, Sunitha B, Töpf A, Preethish-Kumar V, Thompson R, Vengalil S, Nashi S, Bardhan M, Sanka SB, Huddar A, Unnikrishnan G, Arunachal G, Girija MS, Porter A, Azuma Y, Lorenzoni PJ, Baskar D, Anjanappa RM, Keertipriya M, Padmanabh H, Harikrishna GV, Laurie S, Matalonga L, Horvath R, Nalini A, Lochmüller H.   +25 more
europepmc   +1 more source

Acute onset of Lambert Eaton myasthenic syndrome in prostate adenocarcinoma: a case report. [PDF]

Med Pharm Rep
Drăghici NC, Olariu E, Lupescu TD, Mureşanu FD.   +3 more
europepmc   +1 more source

Acute Respiratory Failure Resulting From Lambert-Eaton Myasthenic Syndrome: A Case Report and Literature Review. [PDF]

Cureus
Spicer AR, Reyes CZA, Varade PM.
europepmc   +1 more source

[Myasthenic syndrome].

Vestnik khirurgii imeni I. I. Grekova, 1972
openaire   +1 more source

Some of the next articles are maybe not open access.

Related searches:

Congenital Myasthenic Syndromes

Seminars in Neurology, 2004
Congenital myasthenic syndromes are genetic disorders of neuromuscular transmission that should be considered in the differential diagnosis of seronegative myasthenia gravis and other neuromuscular disorders. They are present at birth but may not manifest until childhood or adult life. A classification system of congenital myasthenic syndromes based on
Daniel, Hantaï, Pascale, Richard, Jeanine, Koenig, Bruno, Eymard   +3 more
openaire   +4 more sources

Congenital myasthenic syndromes

Current Opinion in Neurology, 2013
Congenital myasthenic syndromes (CMS) are a heterogeneous group of disorders caused by genetic defects affecting neuromuscular transmission and leading to muscle weakness accentuated by exertion. The characterization of CMS comprises two complementary steps: establishing the diagnosis and identifying the pathophysiological type of CMS.
Bruno, Eymard, Daniel, Hantaï, Brigitte, Estournet   +2 more
openaire   +4 more sources

Congenital Myasthenic Syndromes

Neurologic Clinics, 2018
The congenital myasthenic syndromes (CMS) are a group of rare genetic conditions characterized by abnormal neuromuscular transmission. Typically, these conditions have been the result of a dysfunctional protein that is present in the presynaptic terminal, the synaptic cleft, or the postsynaptic terminal. Many of these syndromes present within the first
Perry B, Shieh, Shin J, Oh
openaire   +2 more sources