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| Title : Mutations in ABHD12 cause the neurodegenerative disease PHARC: An inborn error of endocannabinoid metabolism - Fiskerstrand_2010_Am.J.Hum.Genet_87_410 |
| Author(s) : Fiskerstrand T , H'Mida-Ben Brahim D , Johansson S , M'Zahem A , Haukanes BI , Drouot N , Zimmermann J , Cole AJ , Vedeler C , Bredrup C , Assoum M , Tazir M , Klockgether T , Hamri A , Steen VM , Boman H , Bindoff LA , Koenig M , Knappskog PM |
| Ref : American Journal of Human Genetics , 87 :410 , 2010 |
| Abstract : Fiskerstrand_2010_Am.J.Hum.Genet_87_410 |
| ESTHER : Fiskerstrand_2010_Am.J.Hum.Genet_87_410 |
| PubMedSearch : Fiskerstrand_2010_Am.J.Hum.Genet_87_410 |
| PubMedID: 20797687 |
| Gene_locus related to this paper: human-ABHD12 |
| Title : The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa - Richard_2008_Neurology_71_1967 |
| Author(s) : Richard P , Gaudon K , Haddad H , Ammar AB , Genin E , Bauche S , Paturneau-Jouas M , Muller JS , Lochmuller H , Grid D , Hamri A , Nouioua S , Tazir M , Mayer M , Desnuelle C , Barois A , Chabrol B , Pouget J , Koenig J , Gouider-Khouja N , Hentati F , Eymard B , Hantai D |
| Ref : Neurology , 71 :1967 , 2008 |
| Abstract : Richard_2008_Neurology_71_1967 |
| ESTHER : Richard_2008_Neurology_71_1967 |
| PubMedSearch : Richard_2008_Neurology_71_1967 |
| PubMedID: 19064877 |