Title : Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome - Giron_2018_Tremor.Other.Hyperkinet.Mov.(N.Y)_8_554 |
Author(s) : Giron C , Roze E , Degos B , Meneret A , Jardel C , Lannuzel A , Mochel F |
Ref : Tremor Other Hyperkinet Mov (N Y) , 8 :554 , 2018 |
Abstract : |
PubMedSearch : Giron_2018_Tremor.Other.Hyperkinet.Mov.(N.Y)_8_554 |
PubMedID: 29686941 |
Gene_locus related to this paper: human-SERAC1 |
Title : Transient neonatal renal failure and massive polyuria in MEGDEL syndrome - Harbulot_2016_Mol.Genet.Metab.Rep_7_8 |
Author(s) : Harbulot C , Paquay S , Dorboz I , Pichard S , Bourillon A , Benoist JF , Jardel C , Ogier de Baulny H , Boespflug-Tanguy O , Schiff M |
Ref : Mol Genet Metab Rep , 7 :8 , 2016 |
Abstract : |
PubMedSearch : Harbulot_2016_Mol.Genet.Metab.Rep_7_8 |
PubMedID: 27331002 |
Gene_locus related to this paper: human-SERAC1 |