Kotzaeridou U

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 :

PubMedSearch : Dohrn_2017_J.Neurochem_143_507

PubMedID: 28902413

Gene_locus related to this paper: human-NDRG1

Title : Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline - Granzow_2015_Mol.Cell.Probes_29_323

Author(s) : Granzow M , Paramasivam N , Hinderhofer K , Fischer C , Chotewutmontri S , Kaufmann L , Evers C , Kotzaeridou U , Rohrschneider K , Schlesner M , Sturm M , Pinkert S , Eils R , Bartram CR , Bauer P , Moog U

Ref : Mol Cell Probes , 29 :323 , 2015

Abstract :

PubMedSearch : Granzow_2015_Mol.Cell.Probes_29_323

PubMedID: 26050939

Kotzaeridou U

References (2)

1. Frequent genes in rare diseases: panel-based next generation sequencing to disclose causal mutations in hereditary neuropathies - Dohrn_2017_J.Neurochem_143_507

2. Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline - Granzow_2015_Mol.Cell.Probes_29_323