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Number of items: 18.


Amin, S; Mallick, AA; Edwards, H; Cortina-Borja, M; Laugharne, M; Likeman, M; O'Callaghan, FJK; (2021) The metformin in tuberous sclerosis (MiTS) study: A randomised double-blind placebo-controlled trial. EClinicalMedicine , Article 100715. 10.1016/j.eclinm.2020.100715. (In press). Green open access


Counsell, JR; De Brabandere, G; Karda, R; Moore, M; Greco, A; Bray, A; Diaz, JA; ... Waddington, SN; + view all (2021) Re-structuring lentiviral vectors to express genomic RNA via cap-dependent translation. Molecular Therapy - Methods and Clinical Development , 20 pp. 357-365. 10.1016/j.omtm.2020.12.005. Green open access

Cross, JH; (2021) Epilepsy in 2020-a new dawn. The Lancet Neurology , 20 (1) pp. 8-10. 10.1016/S1474-4422(20)30438-5.


Datta, AN; Bahi-Buisson, N; Bienvenu, T; Buerki, SE; Gardiner, F; Cross, JH; Heron, B; ... Lemke, JR; + view all (2021) The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy. Epilepsia 10.1111/epi.16761. (In press). Green open access


Gogou, M; Cross, JH; (2021) Fenfluramine as antiseizure medication for epilepsy. Developmental Medicine & Child Neurology 10.1111/dmcn.14822. (In press). Green open access


Joshi, C; Nickels, K; Demarest, S; Eltze, C; Cross, JH; Wirrell, E; (2021) Results of an international Delphi consensus in epilepsy with myoclonic atonic seizures/ Doose syndrome. Seizure , 85 pp. 12-18. 10.1016/j.seizure.2020.11.017.


Masson, R; Brusa, C; Scoto, M; Baranello, G; (2021) Brain, cognition, and language development in spinal muscular atrophy type 1: a scoping review. Developmental Medicine and Child Neurology 10.1111/dmcn.14798. (In press).

Mencacci, NE; Brockmann, MM; Dai, J; Pajusalu, S; Atasu, B; Campos, J; Pino, G; ... Acuna, C; + view all (2021) Bi-allelic variants in TSPOAP1, encoding the active zone protein RIMBP1, cause autosomal recessive dystonia. Journal of Clinical Investigation (JCI) 10.1172/JCI140625. (In press).


Novak, J; Zarinabad, N; Rose, H; Arvanitis, T; MacPherson, L; Pinkey, B; Oates, A; ... Peet, A; + view all (2021) Classification of paediatric brain tumours by diffusion weighted imaging and machine learning. Scientific Reports , 11 , Article 2987. 10.1038/s41598-021-82214-3. Green open access


Pagnamenta, AT; Kaiyrzhanov, R; Zou, Y; Da'as, SI; Maroofian, R; Donkervoort, S; Dominik, N; ... Houlden, H; + view all (2021) An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy. Brain 10.1093/brain/awaa420. (In press). Green open access

Perry, LD; Hogg, SL; Bowdin, S; Ambegaonkar, G; Parker, AP; (2021) Fifteen-minute consultation: The efficient investigation of infantile and childhood epileptic encephalopathies in the era of modern genomics. Archives of Disease in Childhood - Education and Practice 10.1136/archdischild-2020-320606. (In press). Green open access

Pipis, M; Feely, SME; Polke, JM; Skorupinska, M; Perez, L; Shy, RR; Laura, M; ... Inherited Neuropathies Consortium - Rare Disease Clinical Resear, ; + view all (2021) Natural history of Charcot-Marie-Tooth disease type 2A: a large international multicentre study. Brain 10.1093/brain/awaa323. (In press). Green open access

Pressler, RM; Cilio, MR; Mizrahi, EM; Moshé, SL; Nunes, ML; Plouin, P; Vanhatalo, S; ... Zuberi, SM; + view all (2021) The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures. Epilepsia 10.1111/epi.16815. (In press).


Rees, M; Nikoopour, R; Fukuzawa, A; Kho, AL; Fernandez-Garcia, MA; Wraige, E; Bodi, I; ... Gautel, M; + view all (2021) Making sense of missense variants in TTN-related congenital myopathies. Acta Neuropathologia 10.1007/s00401-020-02257-0. (In press). Green open access

Reilly, C; Muggeridge, A; Cross, JH; (2021) The perceived impact of COVID-19 and associated restrictions on young people with epilepsy in the UK: Young people and caregiver survey. Seizure , 85 pp. 111-114. 10.1016/j.seizure.2020.12.024.


Scaglioni, D; Catapano, F; Ellis, M; Torelli, S; Chambers, D; Feng, L; Beck, M; ... Muntoni, F; + view all (2021) The administration of antisense oligonucleotide golodirsen reduces pathological regeneration in patients with Duchenne muscular dystrophy. Acta Neuropathologica Communications , 9 (1) , Article 7. 10.1186/s40478-020-01106-1. Green open access


Toescu, SM; Horsfall, HL; Grover, PJ; Hassell, J; Sayer, C; Hemingway, C; Harding, B; ... Aquilina, K; + view all (2021) Letter to the editor. Brain biopsy in children and adults with neurological diseases of unknown etiology: two sides of the same coin? Response. Journal of Neurosurgery: Pediatrics , 27 (1) pp. 121-122. 10.3171/2020.8.PEDS20624.


Vargha-Khadem, F; Cacucci, F; (2021) A brief history of developmental amnesia. Neuropsychologia , 150 , Article 107689. 10.1016/j.neuropsychologia.2020.107689.

This list was generated on Tue Mar 2 16:20:14 2021 GMT.