Title : The stretcher spontaneous neurodegenerative mutation models Charcot-Marie-Tooth disease type 4D - Chandler_2013_F1000Res_2_46 |
Author(s) : Chandler D , Lopaticki S , Huang D , Hunter M , Angelicheva D , Kilpatrick T , King RH , Kalaydjieva L , Morahan G |
Ref : F1000Res , 2 :46 , 2013 |
Abstract : |
PubMedSearch : Chandler_2013_F1000Res_2_46 |
PubMedID: 24715951 |
Gene_locus related to this paper: human-NDRG1 , mouse-ndr1 |
Title : NDRG1 interacts with APO A-I and A-II and is a functional candidate for the HDL-C QTL on 8q24 - Hunter_2005_Biochem.Biophys.Res.Commun_332_982 |
Author(s) : Hunter M , Angelicheva D , Tournev I , Ingley E , Chan DC , Watts GF , Kremensky I , Kalaydjieva L |
Ref : Biochemical & Biophysical Research Communications , 332 :982 , 2005 |
Abstract : |
PubMedSearch : Hunter_2005_Biochem.Biophys.Res.Commun_332_982 |
PubMedID: 15922294 |
Title : Mutation history of the roma\/gypsies - Morar_2004_Am.J.Hum.Genet_75_596 |
Author(s) : Morar B , Gresham D , Angelicheva D , Tournev I , Gooding R , Guergueltcheva V , Schmidt C , Abicht A , Lochmuller H , Tordai A , Kalmar L , Nagy M , Karcagi V , Jeanpierre M , Herczegfalvi A , Beeson D , Venkataraman V , Warwick Carter K , Reeve J , de Pablo R , Kucinskas V , Kalaydjieva L |
Ref : American Journal of Human Genetics , 75 :596 , 2004 |
Abstract : |
PubMedSearch : Morar_2004_Am.J.Hum.Genet_75_596 |
PubMedID: 15322984 |
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 : N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom - Kalaydjieva_2000_Am.J.Hum.Genet_67_47 |
Author(s) : Kalaydjieva L , Gresham D , Gooding R , Heather L , Baas F , de Jonge R , Blechschmidt K , Angelicheva D , Chandler D , Worsley P , Rosenthal A , King RH , Thomas PK |
Ref : American Journal of Human Genetics , 67 :47 , 2000 |
Abstract : |
PubMedSearch : Kalaydjieva_2000_Am.J.Hum.Genet_67_47 |
PubMedID: 10831399 |
Gene_locus related to this paper: human-NDRG1 |
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 : |
PubMedSearch : King_1999_Neuropathol.Appl.Neurobiol_25_306 |
PubMedID: 10476047 |
Title : Hereditary motor and sensory neuropathy--Lom, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings - Kalaydjieva_1998_Brain_121 ( Pt 3)_399 |
Author(s) : Kalaydjieva L , Nikolova A , Turnev I , Petrova J , Hristova A , Ishpekova B , Petkova I , Shmarov A , Stancheva S , Middleton L , Merlini L , Trogu A , Muddle JR , King RH , Thomas PK |
Ref : Brain , 121 ( Pt 3) :399 , 1998 |
Abstract : |
PubMedSearch : Kalaydjieva_1998_Brain_121 ( Pt 3)_399 |
PubMedID: 9549516 |
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 : Hereditary motor and sensory neuropathy Lom type in an Italian Gypsy family - Merlini_1998_Neuromuscul.Disord_8_182 |
Author(s) : Merlini L , Villanova M , Sabatelli P , Trogu A , Malandrini A , Yanakiev P , Maraldi NM , Kalaydjieva L |
Ref : Neuromuscular Disorders , 8 :182 , 1998 |
Abstract : |
PubMedSearch : Merlini_1998_Neuromuscul.Disord_8_182 |
PubMedID: 9631399 |
Title : Gene mapping in Gypsies identifies a novel demyelinating neuropathy on chromosome 8q24 - Kalaydjieva_1996_Nat.Genet_14_214 |
Author(s) : Kalaydjieva L , Hallmayer J , Chandler D , Savov A , Nikolova A , Angelicheva D , King RH , Ishpekova B , Honeyman K , Calafell F , Shmarov A , Petrova J , Turnev I , Hristova A , Moskov M , Stancheva S , Petkova I , Bittles AH , Georgieva V , Middleton L , Thomas PK |
Ref : Nat Genet , 14 :214 , 1996 |
Abstract : |
PubMedSearch : Kalaydjieva_1996_Nat.Genet_14_214 |
PubMedID: 8841199 |