Wiemer-Kruel A

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Title : Gene-specific long-term course, neurodevelopmental outcome and quality of life in patients with LIS1\/PAFAH1B1-, DCX-, DYNC1H1-, TUBA1A- and TUBG1-related lissencephaly - Proepper_2026_Orphanet.J.Rare.Dis_21_
Author(s) : Proepper CR , Schwarz LM , Schuetz SM , von Au K , Bast T , Beaud N , Borggraefe I , Bosch F , Busse M , Chung J , Debus O , Diepold K , Fries T , von Gersdorff G , Haeussler M , Hahn A , Hartlieb T , Heiming R , Herkenrath P , Kluger G , Kreth JH , Kurlemann G , Moeller P , Morris-Rosendahl DJ , Panzer A , Philippi H , Ruegner S , Toepfer C , Vieker S , Wiemer-Kruel A , Winter A , Schuierer G , Hehr U , Geis T
Ref : Orphanet J Rare Dis , 21 : , 2026
Abstract :
PubMedSearch : Proepper_2026_Orphanet.J.Rare.Dis_21_
PubMedID: 42177523

Title : Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study - Saffari_2019_Orphanet.J.Rare.Dis_14_96
Author(s) : Saffari A , Brosse I , Wiemer-Kruel A , Wilken B , Kreuzaler P , Hahn A , Bernhard MK , van Tilburg CM , Hoffmann GF , Gorenflo M , Hethey S , Kaiser O , Kolker S , Wagner R , Witt O , Merkenschlager A , Mockel A , Roser T , Schlump JU , Serfling A , Spiegler J , Milde T , Ziegler A , Syrbe S
Ref : Orphanet J Rare Dis , 14 :96 , 2019
Abstract :
PubMedSearch : Saffari_2019_Orphanet.J.Rare.Dis_14_96
PubMedID: 31053163