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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 : Severe congenital myasthenic syndrome due to homozygosity of the 1293insG epsilon-acetylcholine receptor subunit mutation - Sieb_2000_Ann.Neurol_48_379 |
| Author(s) : Sieb JP , Kraner S , Schrank B , Reitter B , Goebel TH , Tzartos SJ , Steinlein OK |
| Ref : Annals of Neurology , 48 :379 , 2000 |
| Abstract : Sieb_2000_Ann.Neurol_48_379 |
| ESTHER : Sieb_2000_Ann.Neurol_48_379 |
| PubMedSearch : Sieb_2000_Ann.Neurol_48_379 |
| PubMedID: 10976646 |