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 |
PubMedID: 29913539 |
Gene_locus related to this paper: human-PREPL |
Title : Anti-DPPX encephalitis: Pathogenic effects of antibodies on gut and brain neurons - Piepgras_2015_Neurology_85_890 |
Author(s) : Piepgras J , Holtje M , Michel K , Li Q , Otto C , Drenckhahn C , Probst C , Schemann M , Jarius S , Stocker W , Balint B , Meinck HM , Buchert R , Dalmau J , Ahnert-Hilger G , Ruprecht K |
Ref : Neurology , 85 :890 , 2015 |
Abstract : |
PubMedSearch : Piepgras_2015_Neurology_85_890 |
PubMedID: 26291285 |
Gene_locus related to this paper: human-DPP6 |
Title : Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy - Murakami_2014_PLoS.Genet_10_e1004320 |
Author(s) : Murakami Y , Tawamie H , Maeda Y , Buttner C , Buchert R , Radwan F , Schaffer S , Sticht H , Aigner M , Reis A , Kinoshita T , Jamra RA |
Ref : PLoS Genet , 10 :e1004320 , 2014 |
Abstract : |
PubMedSearch : Murakami_2014_PLoS.Genet_10_e1004320 |
PubMedID: 24784135 |
Gene_locus related to this paper: human-PGAP1 |