Nikoncuk, A
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6

AMFR dysfunction causes autosomal recessive spastic paraple..:

Deng, R ; Medico-Salsench, E ; Nikoncuk, A...
https://discovery.ucl.ac.uk/id/eprint/10169693/1/s00401-023-02579-9.pdf.  , 2023
 
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7

Expanding the mutational landscape and clinical phenotype o..:

Medico Salsench, E ; Maroofian, R ; Deng, R...
https://discovery.ucl.ac.uk/id/eprint/10138652/1/awab297.pdf.  , 2021
 
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8

Bi-allelic variants in HOPS complex subunit VPS41 cause cer..:

Sanderson, LE ; Lanko, K ; Alsagob, M...
https://openaccess.sgul.ac.uk/id/eprint/113126/1/awaa459.pdf.  , 2021
 
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9

Bi-allelic variants in HOPS complex subunit VPS41 cause cer..:

Sanderson, LE ; Lanko, K ; Alsagob, M...
https://discovery.ucl.ac.uk/id/eprint/10126143/1/awaa459.pdf.  , 2021
 
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10

Expanding the mutational landscape and clinical phenotype o..:

Medico Salsench, E ; Maroofian, R ; Deng, R...
https://openaccess.sgul.ac.uk/id/eprint/114014/1/awab297.pdf.  , 2021
 
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11

Loss of UGP2 in brain leads to a severe epileptic encephalo..:

Perenthaler, E ; Nikoncuk, A ; Yousefi, S...
https://openaccess.sgul.ac.uk/id/eprint/111490/1/Perenthaler2019_Article_LossOfUGP2InBrainLeadsToASever.pdf.  , 2020
 
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12

Loss of UGP2 in brain leads to a severe epileptic encephalo..:

Perenthaler, E ; Nikoncuk, A ; Yousefi, S...
https://discovery.ucl.ac.uk/id/eprint/10088769/1/Perenthaler2019_Article_LossOfUGP2InBrainLeadsToASever.pdf.  , 2019
 
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13

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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