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| Title : KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors - Natera-de Benito_2016_J.Neurol_263_517 |
| Author(s) : Natera-de Benito D , Nascimento A , Abicht A , Ortez C , Jou C , Muller JS , Evangelista T , Topf A , Thompson R , Jimenez-Mallebrera C , Colomer J , Lochmuller H |
| Ref : Journal of Neurology , 263 :517 , 2016 |
| Abstract : Natera-de Benito_2016_J.Neurol_263_517 |
| ESTHER : Natera-de Benito_2016_J.Neurol_263_517 |
| PubMedSearch : Natera-de Benito_2016_J.Neurol_263_517 |
| PubMedID: 26754003 |
| Title : Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth - Sevilla_2013_Clin.Genet_83_565 |
| Author(s) : Sevilla T , Martinez-Rubio D , Marquez C , Paradas C , Colomer J , Jaijo T , Millan J , Palau F , Espinos C , Millan JM |
| Ref : Clin Genet , 83 :565 , 2013 |
| Abstract : Sevilla_2013_Clin.Genet_83_565 |
| ESTHER : Sevilla_2013_Clin.Genet_83_565 |
| PubMedSearch : Sevilla_2013_Clin.Genet_83_565 |
| PubMedID: 22978647 |
| Gene_locus related to this paper: human-NDRG1 |
| 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 : Guergueltcheva_2012_J.Neurol_259_838 |
| ESTHER : Guergueltcheva_2012_J.Neurol_259_838 |
| PubMedSearch : Guergueltcheva_2012_J.Neurol_259_838 |
| PubMedID: 21975507 |
| Title : Clinical and molecular genetic findings in COLQ-mutant congenital myasthenic syndromes - Mihaylova_2008_Brain_131_747 |
| Author(s) : Mihaylova V , Muller JS , Vilchez JJ , Salih MA , Kabiraj MM , D'Amico A , Bertini E , Wolfle J , Schreiner F , Kurlemann G , Rasic VM , Siskova D , Colomer J , Herczegfalvi A , Fabriciova K , Weschke B , Scola R , Hoellen F , Schara U , Abicht A , Lochmuller H |
| Ref : Brain , 131 :747 , 2008 |
| Abstract : Mihaylova_2008_Brain_131_747 |
| ESTHER : Mihaylova_2008_Brain_131_747 |
| PubMedSearch : Mihaylova_2008_Brain_131_747 |
| PubMedID: 18180250 |
| Title : Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine - Colomer_2006_Neuromuscul.Disord_16_329 |
| Author(s) : Colomer J , Muller JS , Vernet A , Nascimento A , Pons M , Gonzalez V , Abicht A , Lochmuller H |
| Ref : Neuromuscular Disorders , 16 :329 , 2006 |
| Abstract : Colomer_2006_Neuromuscul.Disord_16_329 |
| ESTHER : Colomer_2006_Neuromuscul.Disord_16_329 |
| PubMedSearch : Colomer_2006_Neuromuscul.Disord_16_329 |
| PubMedID: 16621558 |
| 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 : Hunter_2003_Hum.Mutat_22_129 |
| ESTHER : Hunter_2003_Hum.Mutat_22_129 |
| 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 : Chandler_2000_Neuromuscul.Disord_10_584 |
| ESTHER : Chandler_2000_Neuromuscul.Disord_10_584 |
| PubMedSearch : Chandler_2000_Neuromuscul.Disord_10_584 |
| PubMedID: 11053686 |
| Title : Ultrastructural changes in peripheral nerve in hereditary motor and sensory neuropathy-Lom - King_1999_Neuropathol.Appl.Neurobiol_25_306 |
| Author(s) : King RH , Tournev I , Colomer J , Merlini L , Kalaydjieva L , Thomas PK |
| Ref : Neuropathol Appl Neurobiol , 25 :306 , 1999 |
| Abstract : King_1999_Neuropathol.Appl.Neurobiol_25_306 |
| ESTHER : King_1999_Neuropathol.Appl.Neurobiol_25_306 |
| PubMedSearch : King_1999_Neuropathol.Appl.Neurobiol_25_306 |
| PubMedID: 10476047 |