Efthymiou, Stephanie
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1

Letter to the editor on: Hornerin deposits in neuronal intr..:

Luo, Huihui ; Gustavsson, Emil K ; Macpherson, Hannah...
https://discovery.ucl.ac.uk/id/eprint/10185199/1/s40478-023-01706-7.pdf.  , 2024
 
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Letter to the editor on:Hornerin deposits in neuronal intra..:

Luo, Huihui ; Gustavsson, Emil K ; Macpherson, Hannah...
Luo , H , Gustavsson , E K , Macpherson , H , Dominik , N , Zhelcheska , K , Montgomery , K , Anderson , C , Yau , W Y , Efthymiou , S , Turner , C , DeTure , M , Dickson , D W , Josephs , K A , Revesz , T , Lashley , T , Halliday , G , Rowe , D B , McCann , E , Blair , I , Lees , A J , Tienari , P J , Suomalainen , A , Molina-Porcel , L , Kovacs , G G , Gelpi , E , Hardy , J , Haltia , M J , Tucci , A , Jaunmuktane , Z , Ryten , M , Houlden , H & Chen , Z 2024 , ' Letter to the editor on : Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions by Park et al. (2022) ' , Acta Neuropathologica Communications , vol. 12 , no. 1 , 2 , pp. 1-6 . https://doi.org/10.1186/s40478-023-01706-7.  , 2024
 
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6

Novel loss-of-function variants expand ABCC9-related intell..:

Efthymiou, Stephanie ; Scala, Marcello ; Nagaraj, Vini...
https://discovery.ucl.ac.uk/id/eprint/10186024/1/Efthymiou_awae010.pdf.  , 2024
 
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7

Biallelic MED27 variants lead to variable ponto-cerebello-l..:

Maroofian, Reza ; Kaiyrzhanov, Rauan ; Cali, Elisa...
https://discovery.ucl.ac.uk/id/eprint/10183419/1/awad257.pdf.  , 2023
 
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Optical Genome Mapping Enables Detection and Accurate Sizin..:

Facchini, Stefano ; Dominik, Natalia ; Manini, Arianna...
https://discovery.ucl.ac.uk/id/eprint/10180194/1/biomolecules-13-01546-v2.pdf.  , 2023
 
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9

Biallelic MED27 variants lead to variable ponto-cerebello-l..:

Maroofian, Reza ; Kaiyrzhanov, Rauan ; Cali, Elisa...
Maroofian , R , Kaiyrzhanov , R , Cali , E , Zamani , M , Zaki , M S , Ferla , M , Tortora , D , Sadeghian , S , Saadi , S M , Abdullah , U , Ghayoor Karimiani , E , Efthymiou , S , Yeşil , G , Alavi , S , Al Shamsi , A M , Tajsharghi , H , Abdel-Hamid , M S , Saadi , N W , Al Mutairi , F , Alabdi , L , Beetz , C , Ali , Z , Toosi , M B , Rudnik-Schöneborn , S , Babaei , M , Isohanni , P , Muhammad , J , Sheraz , K , Al Shalan , M , Hickey , S E , Marom , D , Elhanan , E , Kurian , M A , Marafi , D , Saberi , A , Hamid , M , Spaull , R , Meng , L , Lalani , S , Maqbool , S , Rahman , F , Seeger , J , Palculict , T B , Lau , T , Murphy , D , Mencacci , N E , Steindl , K , Begemann , A , Rauch , A , Akbas , S , Dilruba , A A , Salpietro , V , Yousaf , H , Ben-Shachar , S , Ejeskär , K , Al Aqeel , A I , High , F A , Armstrong-Javors , A E , Zahraei , S M , Seifi , T , Zeighami , J , Shariati , G , Sedaghat , A , Asl , S N , Shahrooei , M , Zifarelli , G , Burg....  , 2023
 
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The clinical and genetic spectrum of autosomal-recessive TO..:

Saffari, Afshin ; Lau, Tracy ; Tajsharghi, Homa...
https://discovery.ucl.ac.uk/id/eprint/10165041/1/Houlden_awad039.pdf.  , 2023
 
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11

Genetic Investigation of Consanguineous Pakistani Families ..:

Saadi, Saadia Maryam ; Cali, Elisa ; Khalid, Lubaba Bintee...
https://discovery.ucl.ac.uk/id/eprint/10173948/1/genes-14-01404.pdf.  , 2023
 
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12

Neuromuscular disease genetics in under-represented populat..:

Wilson, Lindsay A ; Macken, William L ; Perry, Luke D...
https://discovery.ucl.ac.uk/id/eprint/10181002/1/awad254.pdf.  , 2023
 
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15

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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