Nafissi S

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Title : COLQ-Congenital myasthenic syndrome in an Iranian cohort: the clinical and genetics spectrum - Hesami_2024_Orphanet.J.Rare.Dis_19_113
Author(s) : Hesami O , Ramezani M , Ghasemi A , Fatehi F , Okhovat AA , Ziaadini B , Kariminejad A , Nafissi S
Ref : Orphanet J Rare Dis , 19 :113 , 2024
Abstract :
PubMedSearch : Hesami_2024_Orphanet.J.Rare.Dis_19_113
PubMedID: 38475910

Title : Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations - Wargon_2012_Neuromuscul.Disord_22_318
Author(s) : Wargon I , Richard P , Kuntzer T , Sternberg D , Nafissi S , Gaudon K , Lebail A , Bauche S , Hantai D , Fournier E , Eymard B , Stojkovic T
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PubMedSearch : Wargon_2012_Neuromuscul.Disord_22_318
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Title : Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations - Guergueltcheva_2012_J.Neurol_259_838
Author(s) : Guergueltcheva V , Muller 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 , Lochmuller H
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