Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy

por Balint, B., Charlesworth, G., Stamelou, M., Carr, L., Mencacci, N. E., Wood, N. W., Bhatia, K. P.
Publicado 2019

Screening of mutations in NOL3 in a myoclonic syndromes series

por Macerollo, A., Mencacci, N. E., Erro, R., Cordivari, C., Edwards, M. J., Wood, N. W., Bhatia, Kailash P.
Publicado 2014

HtrA2 deficiency causes mitochondrial uncoupling through the F(1)F(0)-ATP synthase and consequent ATP depletion

por Plun-Favreau, H, Burchell, V S, Holmström, K M, Yao, Z, Deas, E, Cain, K, Fedele, V, Moisoi, N, Campanella, M, Miguel Martins, L, Wood, N W, Gourine, A V, Abramov, A Y
Publicado 2012

Genetic and phenotypic characterization of NKX6‐2‐related spastic ataxia and hypomyelination

por Chelban, V., Alsagob, M., Kloth, K., Chirita‐Emandi, A., Vandrovcova, J., Maroofian, R., Davagnanam, I., Bakhtiari, S., AlSayed, M. D., Rahbeeni, Z., AlZaidan, H., Malintan, N. T., Johannsen, J., Efthymiou, S., Ghayoor Karimiani, E., Mankad, K., Al‐Shahrani, S. A., Beiraghi Toosi, M., AlShammari, M., Groppa, S., Haridy, N. A., AlQuait, L., Qari, A., Huma, R., Salih, M. A., Almass, R., Almutairi, F. B., Hamad, M. H., Alorainy, I. A., Ramzan, K., Imtiaz, F., Puiu, M., Kruer, M. C., Bierhals, T., Wood, N. W., Colak, D., Houlden, H., Kaya, N.
Publicado 2019