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| Title : Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies - Dohrn_2017_J.Neurochem_143_507 |
| Author(s) : Dohrn MF , Glockle N , Mulahasanovic L , Heller C , Mohr J , Bauer C , Riesch E , Becker A , Battke F , Hortnagel K , Hornemann T , Suriyanarayanan S , Blankenburg M , Schulz JB , Claeys KG , Gess B , Katona I , Ferbert A , Vittore D , Grimm A , Wolking S , Schols L , Lerche H , Korenke GC , Fischer D , Schrank B , Kotzaeridou U , Kurlemann G , Drager B , Schirmacher A , Young P , Schlotter-Weigel B , Biskup S |
| Ref : Journal of Neurochemistry , 143 :507 , 2017 |
| Abstract : Dohrn_2017_J.Neurochem_143_507 |
| ESTHER : Dohrn_2017_J.Neurochem_143_507 |
| PubMedSearch : Dohrn_2017_J.Neurochem_143_507 |
| PubMedID: 28902413 |
| Gene_locus related to this paper: human-NDRG1 |
| Title : A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy - Muhle_2010_Epilepsia_51_2453 |
| Author(s) : Muhle H , Steinich I , von Spiczak S , Franke A , Weber Y , Lerche H , Wittig M , Heidemann S , Suls A , De Jonghe P , Marini C , Guerrini R , Scheffer IE , Berkovic SF , Stephani U , Siebert R , Sander T , Helbig I , Tonnies H |
| Ref : Epilepsia , 51 :2453 , 2010 |
| Abstract : Muhle_2010_Epilepsia_51_2453 |
| ESTHER : Muhle_2010_Epilepsia_51_2453 |
| PubMedSearch : Muhle_2010_Epilepsia_51_2453 |
| PubMedID: 21204805 |