Catarino, CB
16  results:
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1

GWAS meta-analysis of over 29,000 people with epilepsy iden..:

Stevelink, R ; Campbell, C ; Chen, S...
https://discovery.ucl.ac.uk/id/eprint/10176503/1/s41588-023-01485-w.pdf.  , 2023
 
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2

Brain Abnormalities in Patients with Germline Variants in H..:

Alves, CAPF ; Sherbini, O ; D'Arco, F...
https://discovery.ucl.ac.uk/id/eprint/10153679/1/AJNR-22-00175.R1_Proof_hi.pdf.  , 2022
 
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5

Real-World Clinical Experience With Idebenone in the Treatm..:

Catarino, CB ; von Livonius, B ; Priglinger, C...
https://discovery.ucl.ac.uk/id/eprint/10113128/1/JNO-S-19-00425.pdf.  , 2020
 
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7

Genome-wide mega-analysis identifies 16 loci and highlights..:

Abou-Khalil, B ; Auce, P ; Avbersek, A...
https://discovery.ucl.ac.uk/id/eprint/10064853/3/s41467-018-07524-z.pdf.  , 2018
 
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8

Clinical, biochemical and genetic spectrum of 70 patients w..:

Repp, BM ; Mastantuono, E ; Alston, CL...
Repp , BM , Mastantuono , E , Alston , CL , Schiff , M , Haack , TB , Rotig , A , Ardissone , A , Lombes , A , Catarino , CB , Diodato , D , Schottmann , G , Poulton , J , Burlina , A , Jonckheere , A , Munnich , A , Rolinski , B , Ghezzi , D , Rokicki , D , Wellesley , D , Martinelli , D , Ding , WH , Lamantea , E , Ostergaard , E , Pronicka , E , Pierre , G , Smeets , HJM , Wittig , I , Scurr , I , Coo , IFM , Moroni , I , Smet , J , Mayr , JA , Dai , LF , de Meirleir , L , Schuelke , M , Zeviani , M , Morscher , RJ , McFarland , R , Seneca , S , Klopstock , T , Meitinger , T , Wieland , T , Strom , TM , Herberg , U , Ahting , U , Sperl , W , Nassogne , MC , Ling , H , Fang , F , Freisinger , P , Van Coster , R , Strecker , V , Taylor , RW , Haberle , J , Vockley , J , Prokisch , H & Wortmann , S 2018 , ' Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? ' , Orphanet Journal of Rare Diseases , vo....  , 2018
 
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9

Analysis of shared heritability in common disorders of the ..:

Anttila, V ; Bulik-Sullivan, B ; Finucane, HK...
https://discovery.ucl.ac.uk/id/eprint/10052781/1/Wood_aap8757_MainText.pdf.  , 2018
 
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10

Genetic studies of the common epilepsies: genome-wide assoc..:

Catarino, CB
https://discovery.ucl.ac.uk/id/eprint/1418934/1/Claudio_Catarino_Final_thesis_.pdf.  , 2014
 
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11

Epilepsy, hippocampal sclerosis and febrile seizures linked..:

Kasperaviciute, D ; Catarino, CB ; Matarin, M...
https://discovery.ucl.ac.uk/id/eprint/1400724/1/Kasperaviciute_Brain_A_Journal_of_Neurology.pdf.  , 2013
 
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13

Genomic microdeletions associated with epilepsy: Not a cont..:

Catarino, CB ; Kasperaviciute, D ; Thom, M...
https://discovery.ucl.ac.uk/id/eprint/1309513/1/1309513.pdf.  , 2011
 
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15

Uncovering genomic causes of co-morbidity in epilepsy: Gene..:

Kasperavičiute, D ; Catarino, CB ; Chinthapalli, K...
https://discovery.ucl.ac.uk/id/eprint/1345001/1/1345001.pdf.  , 2011
 
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