| 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 |
| Title : Hereditary motor and sensory neuropathy--Lom (HMSNL): refined genetic mapping in Romani (Gypsy) families from several European countries - Chandler_2000_Neuromuscul.Disord_10_584 |
| Author(s) : Chandler D , Angelicheva D , Heather L , Gooding R , Gresham D , Yanakiev P , de Jonge R , Baas F , Dye D , Karagyozov L , Savov A , Blechschmidt K , Keats B , Thomas PK , King RH , Starr A , Nikolova A , Colomer J , Ishpekova B , Tournev I , Urtizberea JA , Merlini L , Butinar D , Chabrol B , Voit T , Baethmann M , Nedkova V , Corches A , Kalaydjieva L |
| Ref : Neuromuscular Disorders , 10 :584 , 2000 |
| Abstract : |
| PubMedSearch : Chandler_2000_Neuromuscul.Disord_10_584 |
| PubMedID: 11053686 |
| Title : HMSNL in a 13-year-old Bulgarian girl - Baethmann_1998_Neuromuscul.Disord_8_90 |
| Author(s) : Baethmann M , Gohlich-Ratmann G , Schroder JM , Kalaydjieva L , Voit T |
| Ref : Neuromuscular Disorders , 8 :90 , 1998 |
| Abstract : |
| PubMedSearch : Baethmann_1998_Neuromuscul.Disord_8_90 |
| PubMedID: 9608562 |
| Title : Multisystem triglyceride storage disorder without ichthyosis in two siblings - Wessalowski_1994_Acta.Paediatr_83_93 |
| Author(s) : Wessalowski R , Schroten H , Neuen-Jacob E , Reichmann H , Melnik BC , Lenard HG , Voit T |
| Ref : Acta Paediatr , 83 :93 , 1994 |
| Abstract : |
| PubMedSearch : Wessalowski_1994_Acta.Paediatr_83_93 |
| PubMedID: 8193482 |