Sturm M

Title : Isolated PREPL deficiency associated with congenital myasthenic syndrome-22 -

Author(s) : Laugwitz L , Redler S , Buchert R , Sturm M , Zeile I , Schara U , Wieczorek D , Haack T , Distelmaier F

Ref : Klin Padiatr , 230 :281 , 2018

Gene_locus related to this paper: human-PREPL

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 : Granzow_2015_Mol.Cell.Probes_29_323

ESTHER : Granzow_2015_Mol.Cell.Probes_29_323

PubMedSearch : Granzow_2015_Mol.Cell.Probes_29_323

PubMedID: 26050939

Sturm M

References (2)

1. Isolated PREPL deficiency associated with congenital myasthenic syndrome-22

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