Results 151 to 160 of about 16,650 (226)

Salbutamol-responsive limb-girdle congenital myasthenic syndrome due to a novel missense mutation and heteroallelic deletion in MUSK

, 2013
Constanze Gallenmüller, Wolfgang Müller‐Felber, Marina Dusl, Rolf Stucka, Velina Guergueltcheva, Astrid Blaschek, Maja von der Hagen, Angela Huebner, Juliane S. Müller, Hanns Lochmüller, Angela Abicht   +10 more
openalex   +2 more sources

Late onset cerebellar ataxia syndrome after non-paraneoplastic Lambert-Eaton myasthenic syndrome: a case study. [PDF]

BMC Neurol
Randall DP, Randall MC.
europepmc   +1 more source

The new variant c.458C>G in CHRNA1 causes late-onset post-synaptic slow-channel congenital myasthenic syndrome. [PDF]

Clinics (Sao Paulo)
Finsterer J, Scorza FA, Scorza CA, Fiorini AC.   +3 more
europepmc   +1 more source

In silico identification of pathogenic RAPSN mutations and ligand interactions in congenital myasthenic syndromes

Aman Ullah, Memona Aslam, Ali Umar, Muhamad Zia Ahmad, Misbah Ullah Khan, Muhammad Shahzeb Khan   +5 more
openalex   +1 more source

Serum choline activates mutant acetylcholine receptors that cause slow channel congenital myasthenic syndromes

, 1999
Ming Zhou, Andrew G. Engel, Anthony Auerbach   +2 more
openalex   +1 more source

Congenital Myasthenic Syndrome With Adult Onset Due to the Novel Heterozygous c.1399_1404del Variant in the Downstream of Tyrosine Kinase-7 (DOK7): A Case Report. [PDF]

Cureus
Finsterer J.
europepmc   +1 more source

Anti-CD19 CAR-T cells are effective in severe idiopathic Lambert-Eaton myasthenic syndrome. [PDF]

Cell Rep Med
Wickel J, Schnetzke U, Sayer-Klink A, Rinke J, Borie D, Dudziak D, Hochhaus A, Heger L, Geis C.   +8 more
europepmc   +1 more source

Burden of disease in Lambert-Eaton myasthenic syndrome: taking the patient's perspective. [PDF]

J Neurol
Lehnerer S, Herdick M, Stegherr R, Gerischer L, Stascheit F, Stein M, Mergenthaler P, Hoffmann S, Meisel A.   +8 more
europepmc   +1 more source

Congenital myasthenic syndrome secondary to pathogenic variants in the SLC5A7 gene: report of two cases. [PDF]

BMC Med Genomics
Muntadas JA, Hyland MR, Martínez MDRO, Young JN, Chong JX, Bamshad MJ, Maselli RA.   +6 more
europepmc   +1 more source