1. Home
  2. Author
  3. Schlotter B

Schlotter B

References (2)

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
Ref : Journal of Neurology , 259 :838 , 2012
Abstract :
PubMedSearch : Guergueltcheva_2012_J.Neurol_259_838
PubMedID: 21975507

Title : Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease - Hunter_2003_Hum.Mutat_22_129
Author(s) : Hunter M , Bernard R , Freitas E , Boyer A , Morar B , Martins IJ , Tournev I , Jordanova A , Guergelcheva V , Ishpekova B , Kremensky I , Nicholson G , Schlotter B , Lochmuller H , Voit T , Colomer J , Thomas PK , Levy N , Kalaydjieva L
Ref : Hum Mutat , 22 :129 , 2003
Abstract :
PubMedSearch : Hunter_2003_Hum.Mutat_22_129
PubMedID: 12872253
Gene_locus related to this paper: human-NDRG1