Alston, CL
23  results:
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4

Early‐onset coenzyme Q10 deficiency associated with ataxia ..:

Cotta, A ; Alston, CL ; Baptista-Junior, S...
https://researchonline.ljmu.ac.uk/id/eprint/13044/1/CoQ10%20paper%202.6.20.pdf.  , 2020
 
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8

Pathogenic variants in MT-ATP6: A UK-based Mitochondrial Di..:

Ng, YS ; Martikainen, MH ; Gorman, GS...
https://discovery.ucl.ac.uk/id/eprint/10076270/1/Ng_et_al-2019-Annals_of_Neurology%20%282%29.pdf.  , 2019
 
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9

Mutations in ELAC2 associated with hypertrophic cardiomyopa..:

Saoura, M ; Powell, CA ; Kopajtich, R...
https://discovery.ucl.ac.uk/id/eprint/10074235/1/Rahman%20PDFsam_Rahman%20VOR_Saoura_et_al-2019-Human_Mutation.pdf.  , 2019
 
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10

Pathogenic variants in MT-ATP6: A United Kingdom-based mito..:

Ng, YS ; Martikainen, MH ; Gorman, GS...
https://openaccess.sgul.ac.uk/id/eprint/111174/1/Ng_et_al-2019-Annals_of_Neurology.pdf.  , 2019
 
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12

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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14

MT-ND5 Mutation Exhibits Highly Variable Neurological Manif..:

Ng, YS ; Lax, NZ ; Maddison, P...
https://discovery.ucl.ac.uk/id/eprint/10045483/8/1-s2.0-S2352396418300641-main.pdf.  , 2018
 
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15

Using a quantitative quadruple immunofluorescent assay to d..:

Ahmed, ST ; Alston, CL ; Hopton, S...
https://researchonline.ljmu.ac.uk/id/eprint/9383/1/Using%20a%20quantitative%20quadruple%20immunofluorescent%20assay%20to%20diagnose%20isolated%20mitochondrial%20Complex%20I%20deficiency.pdf.  , 2017
 
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