Using smartphone sensors for ataxia trials: consensus guidance by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers by Németh, AH, Antoniades, C, Dukart, J

Deep brain stimulation in three related cases of North Sea progressive myoclonic epilepsy from South Africa by Anderson, DG, Németh, AH, Fawcett, KA, Sims, D, Miller, J, Krause, A

Targeted next generation sequencing and family survey enable correct genetic diagnosis in CRX associated macular dystrophy - a case report by Al-Khuzaei, S, Hudspith, KAZ, Broadgate, S, Shanks, ME, Clouston, P, Németh, AH, Halford, S, Downes, SM

Association of clinical and genetic heterogeneity with BEST1 sequence variations by Shah, M, Broadgate, S, Shanks, M, Clouston, P, Yu, J, MacLaren, RE, Németh, AH, Halford, S, Downes, SM

Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA(Lys) (m.8340G>A) gene variant. by Gill, JS, Hardy, SA, Blakely, EL, Hopton, S, Nemeth, AH, Fratter, C, Poulton, J, Taylor, RW, Downes, SM

The effect of different interfaces during virtual game practice on motor performance of individuals with genetic ataxia: A cross-sectional study by Graciani, Z, Moraes, ÍAPD, Alberissi, CADO, Prado-Rico, JM, Silva, TDD, Martinez, JP, Araújo, LVD, Pontes, RG, Fernandes, SMDS, Barbosa, RCC, Németh, AH, Dawes, H, Monteiro, CBDM

Subthalamic nucleus shows opposite functional connectivity pattern in Huntington's and Parkinson's disease by Evangelisti, S, Boessenkool, S, Pflanz, CP, Basting, R, Betts, JF, Jenkinson, M, Clare, S, Muhammed, K, LeHeron, C, Armstrong, R, Klein, JC, Husain, M, Nemeth, AH, Hu, MT, Douaud, G

Quantitative oculomotor assessment in hereditary ataxia: systematic review and consensus by the Ataxia Global Initiative Working Group on Digital-motor Biomarkers by Garces, P, Antoniades, CA, Sobanska, A, Kovacs, N, Ying, SH, Gupta, AS, Perlman, S, Szmulewicz, DJ, Pane, C, Németh, AH, Jardim, LB, Coarelli, G, Dankova, M, Traschütz, A, Tarnutzer, AA

Quantitative oculomotor assessment in hereditary ataxia: discriminatory power, correlation with severity measures, and recommended parameters for specific genotypes by Garces, P, Antoniades, CA, Sobanska, A, Kovacs, N, Ying, SH, Gupta, AS, Perlman, S, Szmulewicz, DJ, Pane, C, Németh, AH, Jardim, LB, Coarelli, G, Dankova, M, Traschütz, A, Tarnutzer, AA

Inhibition of the SUV4-20 H1 histone methyltransferase increases frataxin expression in Friedreich's ataxia patient cells by Vilema Enriquez, MG, Quinlan, R, Kilfeather, P, Mazzone, R, Saqlain, S, Del Molino Del Barrio, I, Donato, A, Corda, G, Li, F, Vedadi, M, Németh, AH, Brennan, PE, Wade-Martins, R

The 100,000 genomes pilot on rare disease diagnosis in healthcare – a preliminary report by Smedley, D, Smith, KR, Rueda Martin, A, Buchanan, J, Wordsworth, S, de Burca, A, Davies, J, Crichton, C, Welch, J, Woods, K, Campbell, C, Camps, C, Gibson, K, Lester, T, Patel, S, Roy, NBA, Sen, A, Németh, AH, Taylor, J, Caulfield, M

Personalized recurrence risk assessment following the birth of a child with a pathogenic de novo mutation by Bernkopf, M, Abdullah, UB, Bush, SJ, Wood, KA, Ghaffari, S, Koelling, N, Maher, GJ, Williams, J, Blair, EM, Kelly, FB, Bloss, A, Kini, U, Németh, AH, Saunders, K, Shears, DJ, Stewart, H, Clouston, P, Davies, RW, Wilkie, AOM, Goriely, A

De novo point mutations in patients diagnosed with ataxic cerebral palsy by Parolin Schnekenberg, R, Perkins, EM, Miller, JW, Davies, WIL, D'Adamo, M, Pessia, M, Fawcett, KA, Sims, D, Gillard, E, Hudspith, K, Skehel, P, Williams, J, O'Regan, M, Jayawant, S, Jefferson, R, Hughes, S, Lustenberger, A, Ragoussis, J, Jackson, M, Tucker, SJ, Németh, AH

Quantitative Gait and Balance Outcomes for Ataxia Trials: Consensus Recommendations by the Ataxia Global Initiative Working Group on Digital-Motor Biomarkers by Ilg, W, Milne, S, Schmitz-Hübsch, T, Alcock, L, Beichert, L, Bertini, E, Mohamed Ibrahim, N, Dawes, H, Gomez, CM, Hanagasi, H, Kinnunen, KM, Minnerop, M, Németh, AH, Newman, J, Ng, YS, Rentz, C, Samanci, B, Shah, VV, Summa, S, Vasco, G, McNames, J, Horak, FB

The phenotypic continuum of ATP1A3-related disorders by Vezyroglou, A, Akilapa, R, Barwick, K, Koene, S, Brownstein, CA, Holder-Espinasse, M, Fry, AE, Nemeth, AH, Tofaris, GK, Hay, E, Hughes, I, Mansour, S, Mordekar, SR, Splitt, M, Turnpenny, PD, Demetriou, D, Koopmann, TT, Ruivenkamp, CAL, Agrawal, PB, Carr, L, Clowes, V, Ghali, N, Holder, SE, Radley, J, Male, A, Sisodiya, SM, Kurian, MA, Cross, JH, Balasubramanian, M