Results 121 to 130 of about 2,996 (188)

Congenital myasthenic syndromes: increasingly complex. [PDF]

Curr Opin Neurol
Ramdas S, Beeson D, Dong YY.
europepmc   +1 more source

Innovative Therapeutic Approaches in Congenital Myasthenic Syndromes. [PDF]

Neurol Clin Pract
Kediha MI, Tazir M, Sternberg D, Eymard B, Ali Pacha L.   +4 more
europepmc   +1 more source

Congenital myasthenic syndromes in adults: clinical features, diagnosis and long-term prognosis. [PDF]

Brain
Theuriet J, Masingue M, Behin A, Ferreiro A, Bassez G, Jaubert P, Tarabay O, Fer F, Pegat A, Bouhour F, Svahn J, Petiot P, Jomir L, Chauplannaz G, Cornut-Chauvinc C, Manel V, Salort-Campana E, Attarian S, Fortanier E, Verschueren A, Kouton L, Camdessanché JP, Tard C, Magot A, Péréon Y, Noury JB, Minot-Myhie MC, Perie M, Taithe F, Farhat Y, Millet AL, Cintas P, Solé G, Spinazzi M, Esselin F, Renard D, Sacconi S, Ezaru A, Malfatti E, Mallaret M, Magy L, Diab E, Merle P, Michaud M, Fournier M, Pakleza AN, Chanson JB, Lefeuvre C, Laforet P, Richard P, Sternberg D, Villar-Quiles RN, Stojkovic T, Eymard B.   +53 more
europepmc   +1 more source

Correction to: The Therapy of Congenital Myasthenic Syndromes. [PDF]

Neurotherapeutics, 2019
Engel AG.
europepmc   +1 more source

Congenital myasthenic syndromes - Diagnostics and treatment

, 2007
Congenital myasthenic syndromes (CMS) are genetically determined disorders affecting safety margins of neural transmission at presynaptic, postsynaptic and synaptic level.
Lehman I, Lochmuller H, Abicht A, Barisic N, Sribar A, Muller J   +5 more
core  

Limb ⁃ girdle muscular dystrophy with congenital myasthenic syndrome caused by GMPPB gene mutation: one case report

Chinese Journal of Contemporary Neurology and Neurosurgery, 2023
LI Ran, ZOU Hui‑min, XING Chun‑ye, SONG Jin, HAO Yan‑lei   +4 more
doaj   +1 more source

The congenital myasthenic syndromes: expanding genetic and phenotypic spectrums and refining treatment strategies. [PDF]

Curr Opin Neurol, 2019
Vanhaesebrouck AE, Beeson D.
europepmc   +1 more source

Congenital myasthenic syndromes in adult neurology clinic: A long road to diagnosis and therapy. [PDF]

Neurology, 2018
Kao JC, Milone M, Selcen D, Shen XM, Engel AG, Liewluck T.   +5 more
europepmc   +1 more source

Agrin mutations lead to a congenital myasthenic syndrome with distal muscle weakness and atrophy

Congenital myasthenic syndromes are a clinically and genetically heterogeneous group of rare diseases resulting from impaired neuromuscular transmission.
Chaouch A, Sternberg D, Barois A, Dusl M, Griffin H, Fontenille MJ, Bauche S, Stalberg E, Fournier E, Horn MA, Brochier G, Lochmuller H, van Ghelue M, Abicht A, de Bruyckere E, Issop Y, Ioos C, Loseth S, Laval SH, Eymard B, Cox D, Muller JS, Evangelista T, Nicole S, Hantai D, Torbergsen T   +25 more
core  

Targeted therapies for congenital myasthenic syndromes: systematic review and steps towards a treatabolome. [PDF]

Emerg Top Life Sci, 2019
Thompson R, Bonne G, Missier P, Lochmüller H.   +3 more
europepmc   +1 more source