| Title : Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders - Novarino_2014_Science_343_506 |
| Author(s) : Novarino G , Fenstermaker AG , Zaki MS , Hofree M , Silhavy JL , Heiberg AD , Abdellateef M , Rosti B , Scott E , Mansour L , Masri A , Kayserili H , Al-Aama JY , Abdel-Salam GMH , Karminejad A , Kara M , Kara B , Bozorgmehri B , Ben-Omran T , Mojahedi F , El Din Mahmoud IG , Bouslam N , Bouhouche A , Benomar A , Hanein S , Raymond L , Forlani S , Mascaro M , Selim L , Shehata N , Al-Allawi N , Bindu PS , Azam M , Gunel M , Caglayan A , Bilguvar K , Tolun A , Issa MY , Schroth J , Spencer EG , Rosti RO , Akizu N , Vaux KK , Johansen A , Koh AA , Megahed H , Durr A , Brice A , Stevanin G , Gabriel SB , Ideker T , Gleeson JG |
| Ref : Science , 343 :506 , 2014 |
| Abstract : |
| PubMedSearch : Novarino_2014_Science_343_506 |
| PubMedID: 24482476 |
| Title : Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders - Novarino_2014_Science_343_506 |
| Author(s) : Novarino G , Fenstermaker AG , Zaki MS , Hofree M , Silhavy JL , Heiberg AD , Abdellateef M , Rosti B , Scott E , Mansour L , Masri A , Kayserili H , Al-Aama JY , Abdel-Salam GMH , Karminejad A , Kara M , Kara B , Bozorgmehri B , Ben-Omran T , Mojahedi F , El Din Mahmoud IG , Bouslam N , Bouhouche A , Benomar A , Hanein S , Raymond L , Forlani S , Mascaro M , Selim L , Shehata N , Al-Allawi N , Bindu PS , Azam M , Gunel M , Caglayan A , Bilguvar K , Tolun A , Issa MY , Schroth J , Spencer EG , Rosti RO , Akizu N , Vaux KK , Johansen A , Koh AA , Megahed H , Durr A , Brice A , Stevanin G , Gabriel SB , Ideker T , Gleeson JG |
| Ref : Science , 343 :506 , 2014 |
| Abstract : |
| PubMedSearch : Novarino_2014_Science_343_506 |
| PubMedID: 24482476 |
| Title : Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders - Novarino_2014_Science_343_506 |
| Author(s) : Novarino G , Fenstermaker AG , Zaki MS , Hofree M , Silhavy JL , Heiberg AD , Abdellateef M , Rosti B , Scott E , Mansour L , Masri A , Kayserili H , Al-Aama JY , Abdel-Salam GMH , Karminejad A , Kara M , Kara B , Bozorgmehri B , Ben-Omran T , Mojahedi F , El Din Mahmoud IG , Bouslam N , Bouhouche A , Benomar A , Hanein S , Raymond L , Forlani S , Mascaro M , Selim L , Shehata N , Al-Allawi N , Bindu PS , Azam M , Gunel M , Caglayan A , Bilguvar K , Tolun A , Issa MY , Schroth J , Spencer EG , Rosti RO , Akizu N , Vaux KK , Johansen A , Koh AA , Megahed H , Durr A , Brice A , Stevanin G , Gabriel SB , Ideker T , Gleeson JG |
| Ref : Science , 343 :506 , 2014 |
| Abstract : |
| PubMedSearch : Novarino_2014_Science_343_506 |
| PubMedID: 24482476 |
| Title : Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes - Torsvik_2010_Hum.Genet_127_55 |
| Author(s) : Torsvik J , Johansson S , Johansen A , Ek J , Minton J , Raeder H , Ellard S , Hattersley A , Pedersen O , Hansen T , Molven A , Njolstad PR |
| Ref : Hum Genet , 127 :55 , 2010 |
| Abstract : |
| PubMedSearch : Torsvik_2010_Hum.Genet_127_55 |
| PubMedID: 19760265 |
| Gene_locus related to this paper: human-CEL |
| Title : Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes - Torsvik_2010_Hum.Genet_127_55 |
| Author(s) : Torsvik J , Johansson S , Johansen A , Ek J , Minton J , Raeder H , Ellard S , Hattersley A , Pedersen O , Hansen T , Molven A , Njolstad PR |
| Ref : Hum Genet , 127 :55 , 2010 |
| Abstract : |
| PubMedSearch : Torsvik_2010_Hum.Genet_127_55 |
| PubMedID: 19760265 |
| Gene_locus related to this paper: human-CEL |
| Title : Mutations in the VNTR of the carboxyl-ester lipase gene (CEL) are a rare cause of monogenic diabetes - Torsvik_2010_Hum.Genet_127_55 |
| Author(s) : Torsvik J , Johansson S , Johansen A , Ek J , Minton J , Raeder H , Ellard S , Hattersley A , Pedersen O , Hansen T , Molven A , Njolstad PR |
| Ref : Hum Genet , 127 :55 , 2010 |
| Abstract : |
| PubMedSearch : Torsvik_2010_Hum.Genet_127_55 |
| PubMedID: 19760265 |
| Gene_locus related to this paper: human-CEL |
| Title : Large-scale studies of the functional K variant of the butyrylcholinesterase gene in relation to Type 2 diabetes and insulin secretion - Johansen_2004_Diabetologia_47_1437 |
| Author(s) : Johansen A , Nielsen EM , Andersen G , Hamid YH , Jensen DP , Glumer C , Drivsholm T , Borch-Johnsen K , Jorgensen T , Hansen T , Pedersen O |
| Ref : Diabetologia , 47 :1437 , 2004 |
| Abstract : |
| PubMedSearch : Johansen_2004_Diabetologia_47_1437 |
| PubMedID: 15258737 |
| Title : Large-scale studies of the functional K variant of the butyrylcholinesterase gene in relation to Type 2 diabetes and insulin secretion - Johansen_2004_Diabetologia_47_1437 |
| Author(s) : Johansen A , Nielsen EM , Andersen G , Hamid YH , Jensen DP , Glumer C , Drivsholm T , Borch-Johnsen K , Jorgensen T , Hansen T , Pedersen O |
| Ref : Diabetologia , 47 :1437 , 2004 |
| Abstract : |
| PubMedSearch : Johansen_2004_Diabetologia_47_1437 |
| PubMedID: 15258737 |
| Title : Large-scale studies of the functional K variant of the butyrylcholinesterase gene in relation to Type 2 diabetes and insulin secretion - Johansen_2004_Diabetologia_47_1437 |
| Author(s) : Johansen A , Nielsen EM , Andersen G , Hamid YH , Jensen DP , Glumer C , Drivsholm T , Borch-Johnsen K , Jorgensen T , Hansen T , Pedersen O |
| Ref : Diabetologia , 47 :1437 , 2004 |
| Abstract : |
| PubMedSearch : Johansen_2004_Diabetologia_47_1437 |
| PubMedID: 15258737 |