Jackson, Adam J
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2

Lunapark deficiency leads to an autosomal recessive neurode..:

Accogli, Andrea ; Zaki, Maha S ; Al-Owain, Mohammed...
https://discovery.ucl.ac.uk/id/eprint/10178661/1/Efthymiou_Lunapark%20deficiency%20leads%20to%20an%20autosomal%20recessive%20neurodevelopmental%20phenotype%20with%20a%20degenerative%20course,%20epilepsy%20and%20distinct%20brain%20anomalies_VoR.pdf.  , 2023
 
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4

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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15

Null and missense mutations of ERI1 cause a recessive pheno..:

Guo, Long ; Salian, Smrithi ; Xue, Jing-Yi...
Guo , L , Salian , S , Xue , J-Y , Rath , N , Rousseau , J , Kim , H , Ehresmann , S , Moosa , S , Nakagawa , N , Kuroda , H , Clayton-Smith , J , Wang , J , Banka , S , Jackson , A , Wei , Z-J , Hüning , I , Brunet , T , Ohashi , H , Thomas , M F , Bupp , C , Miyake , N , Matsumoto , N , Mendoza-Londono , R , Costain , G , Hahn , G , Di Donato , N , Yigit , G , Yamada , T , Nishimura , G , Ansel , K M , Wollnik , B , Hrabě de Angelis , M , Mégarbané , A , Rosenfeld , J A , Heissmeyer , V , Ikegawa , S & Campeau , P M 2023 , ' Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans ' , American Journal of Human Genetics , vol. 110 , no. 7 , pp. 1068-1085 . https://doi.org/10.1016/j.ajhg.2023.06.001.  , 2023
 
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