Slegtenhorst, Rob
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8

AMFR dysfunction causes autosomal recessive spastic paraple..:

Deng, Ruizhi ; Medico-Salsench, Eva ; Nikoncuk, Anita...
AMFR consortium , Deng , R , Medico-Salsench , E , Nikoncuk , A , Ramakrishnan , R , Lanko , K , Kühn , N A , van der Linde , H C , Lor-Zade , S , Albuainain , F , Shi , Y , Yousefi , S , Capo , I , van den Herik , E M , van Slegtenhorst , M , van Minkelen , R , Geeven , G , Mulder , M T , Ruijter , G J G , Lütjohann , D , Jacobs , E H , Houlden , H , Pagnamenta , A T , Metcalfe , K , Jackson , A , Banka , S , De Simone , L , Schwaede , A , Kuntz , N , Palculict , T B , Abbas , S , Umair , M , AlMuhaizea , M , Colak , D , AlQudairy , H , Alsagob , M , Pereira , C , Trunzo , R , Karageorgou , V , Bertoli-Avella , A M , Bauer , P , Bouman , A , Hoefsloot , L H , van Ham , T J , Issa , M , Zaki , M S , Gleeson , J G , Willemsen , R , Kaya , N , Arold , S T & Maroofian , R 2023 , ' AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model ' , Acta Neuropathologica , vol. 146 , no. 2 , pp. 3....  , 2023
 
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Biallelic variants in FLII cause pediatric cardiomyopathy b..:

Ruijmbeek, Claudine Wb ; Housley, Filomena ; Idrees, Hafiza...
Ruijmbeek , C W , Housley , F , Idrees , H , Housley , M P , Pestel , J , Keller , L , Lai , J K , der Linde , H C V , Willemsen , R , Piesker , J , Al-Hassnan , Z N , Almesned , A , Dalinghaus , M , den Bersselaar , L M V , van Slegtenhorst , M A , Tessadori , F , Bakkers , J , van Ham , T J , Stainier , D Y , Verhagen , J M & Reischauer , S 2023 , ' Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization ' , JCI insight , vol. 8 , no. 17 . https://doi.org/10.1172/jci.insight.168247.  , 2023
 
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Warsaw Breakage Syndrome associated DDX11 helicase resolves..:

van Schie, JJM ; Faramarz, A ; Balk, JA...
van Schie , JJM , Faramarz , A , Balk , JA , Stewart , GS , Cantelli , E , Oostra , AB , Rooimans , MA , Parish , JL , Esteves , CD , Dumic , K , Barisic , I , Diderich , K , Slegtenhorst , M , Al Mahtab , M , Pisani , FM , te Riele , H , Ameziane , N , Wolthuis , R & Lange , J 2020 , ' Warsaw Breakage Syndrome associated DDX11 helicase resolves G-quadruplex structures to support sister chromatid cohesion ' , Nature Communications , vol. 11 , no. 1 , 4287 . https://doi.org/10.1038/s41467-020-18066-8.  , 2020
 
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