| Title : C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation - Lausberg_2021_J.Clin.Invest_131_e143078 |
| Author(s) : Lausberg E , Giesselmann S , Dewulf JP , Wiame E , Holz A , Salvarinova R , van Karnebeek CD , Klemm P , Ohl K , Mull M , Braunschweig T , Weis J , Sommer CJ , Demuth S , Haase C , Stollbrink-Peschgens C , Debray FG , Libioulle C , Choukair D , Oommen PT , Borkhardt A , Surowy H , Wieczorek D , Wagner N , Meyer R , Eggermann T , Begemann M , van Schaftingen E , Hausler M , Tenbrock K , van den Heuvel L , Elbracht M , Kurth I , Kraft F |
| Ref : J Clinical Investigation , 131 : , 2021 |
| Abstract : |
| PubMedSearch : Lausberg_2021_J.Clin.Invest_131_e143078 |
| PubMedID: 33945503 |
| Gene_locus related to this paper: human-cb069 |
| Title : Choline transporter mutations in severe congenital myasthenic syndrome disrupt transporter localization - Wang_2017_Brain_140_2838 |
| Author(s) : Wang H , Salter CG , Refai O , Hardy H , Barwick KES , Akpulat U , Kvarnung M , Chioza BA , Harlalka G , Taylan F , Sejersen T , Wright J , Zimmerman HH , Karakaya M , Stuve B , Weis J , Schara U , Russell MA , Abdul-Rahman OA , Chilton J , Blakely RD , Baple EL , Cirak S , Crosby AH |
| Ref : Brain , 140 :2838 , 2017 |
| Abstract : |
| PubMedSearch : Wang_2017_Brain_140_2838 |
| PubMedID: 29088354 |
| Title : A motoneuron-selective stop signal in the synaptic protein S-laminin - Porter_1995_Neuron_14_549 |
| Author(s) : Porter BE , Weis J , Sanes JR |
| Ref : Neuron , 14 :549 , 1995 |
| Abstract : |
| PubMedSearch : Porter_1995_Neuron_14_549 |
| PubMedID: 7695901 |
| Title : Integration site-dependent transgene expression used to mark subpopulations of cells in vivo: an example from the neuromuscular junction - Weis_1992_Brain.Pathol_2_31 |
| Author(s) : Weis J , Fine SM , Sanes JR |
| Ref : Brain Pathology , 2 :31 , 1992 |
| Abstract : |
| PubMedSearch : Weis_1992_Brain.Pathol_2_31 |
| PubMedID: 1341945 |
| Title : Integration site-dependent expression of a transgene reveals specialized features of cells associated with neuromuscular junctions - Weis_1991_J.Cell.Biol_113_1385 |
| Author(s) : Weis J , Fine SM , David C , Savarirayan S , Sanes JR |
| Ref : Journal of Cell Biology , 113 :1385 , 1991 |
| Abstract : |
| PubMedSearch : Weis_1991_J.Cell.Biol_113_1385 |
| PubMedID: 1904446 |