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Number of items: 35.


Ahluwalia, TS; Prins, BP; Abdollahi, M; Armstrong, NJ; Aslibekyan, S; Bain, L; Jefferis, B; ... Alizadeh, BZ; + view all (2021) Genome-Wide Association Study of Circulating Interleukin 6 Levels Identifies Novel Loci. Human Molecular Genetics 10.1093/hmg/ddab023. (In press). Green open access

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

Bandyopadhyay, S; Khan, DZ; Marcus, HJ; Schroeder, BE; Patel, V; O’Donnell, A; Ahmed, S; ... Youssef, M; + view all (2021) CSF rhinorrhoea after endonasal intervention to the skull base (CRANIAL). Part 2: Impact of COVID-19. World Neurosurgery 10.1016/j.wneu.2020.12.169. (In press).

Byrne, M; Aughwane, R; James, JL; Hutchinson, C; Arthurs, O; Sebire, N; Ourselin, S; ... Clark, AR; + view all (2021) Structure-function relationships in the feto-placental circulation from in silico interpretation of micro-CT vascular structures. Journal of Theoretical Biology 10.1016/j.jtbi.2021.110630. (In press).

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

Elward, RL; Rugg, MD; Vargha-Khadem, F; (2021) When the brain, but not the person, remembers: Cortical reinstatement is modulated by retrieval goal in developmental amnesia. Neuropsychologia , 154 , Article 107788. 10.1016/j.neuropsychologia.2021.107788. Green open access

Fortunato, F; Rossi, R; Falzarano, MS; Ferlini, A; (2021) Innovative Therapeutic Approaches for Duchenne Muscular Dystrophy. Journal of Clinical Medicine , 10 (4) , Article 820. 10.3390/jcm10040820. 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

Hood, A; Crosby, L; Joffe, N; Kidwell, K; Onengiya, H; McTate, E; Nwankwo, C; (2021) Perceptions of a self-management intervention for adolescents with sickle cell disease. Clinical Practice in Pediatric Psychology 10.1037/cpp0000334. (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.

Khan, DZ; Marcus, HJ; Horsfall, HL; Bandyopadhyay, S; Schroeder, BE; Patel, V; O’Donnell, A; ... Youssef, M; + view all (2021) CSF rhinorrhoea after endonasal intervention to the skull base (CRANIAL). Part 1: Multicentre pilot study. World Neurosurgery 10.1016/j.wneu.2020.12.171. (In press).

Lewis, C; Simcock, IC; Arthurs, OJ; (2021) Improving uptake of perinatal autopsy. Current Opinion in Obstetrics and Gynecology , 33 (2) pp. 129-134. 10.1097/GCO.0000000000000691.

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).

Miller, M; Rumble, D; Hirsh, A; Vervoort, T; Crosby, L; Madan-Swain, A; Lebensburger, J; ... Trost, Z; + view all (2021) Pain-related injustice appraisals in youth with sickle cell disease: a preliminary investigation. Pain Medicine (In press).

Myers, KA; Marini, C; Carvill, GL; McTague, A; Panetta, J; Stutterd, C; Stanley, T; ... Scheffer, IE; + view all (2021) Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder. Neurology Genetics , 7 (2) e579-e579. 10.1212/nxg.0000000000000579. Green open access

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.

Rossignoli, G; Krämer, K; Lugarà, E; Alrashidi, H; Pope, S; De La Fuente Barrigon, C; Barwick, K; ... Kurian, MA; + view all (2021) Aromatic L-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapies. Brain 10.1093/brain/awab123. (In press). Green open access

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

Servais, L; Baranello, G; Scoto, M; Daron, A; Oskoui, M; (2021) Therapeutic interventions for spinal muscular atrophy: preclinical and early clinical development opportunities. Expert Opinion on Investigational Drugs 10.1080/13543784.2021.1904889. (In press).

Soo, AKS; Ferrini, A; Kurian, MA; (2021) Precision medicine for genetic childhood movement disorders. Developmental Medicine & Child Neurology 10.1111/dmcn.14869. (In press). Green open access

Spicer, C; Lu, C-H; Catapano, F; Scoto, M; Zaharieva, I; Malaspina, A; Morgan, JE; ... Zhou, H; + view all (2021) The altered expression of neurofilament in mouse models and patients with spinal muscular atrophy. Annals of Clinical and Translational Neurology 10.1002/acn3.51336. (In press). Green open access

Stotesbury, H; Kawadler, JM; Saunders, DE; Kirkham, FJ; (2021) MRI detection of brain abnormality in sickle cell disease. Expert Review of Hematology 10.1080/17474086.2021.1893687. (In press).

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

Volkers, N; Wiebe, S; Asadi-Pooya, AA; Balagura, G; Gómez-Iglesias, P; Guekht, A; Hall, J; ... Cross, JH; + view all (2021) The initial impact of the SARS-CoV-2 pandemic on epilepsy research. Epilepsia Open 10.1002/epi4.12471. (In press). Green open access

Zagaglia, S; Steel, D; Krithika, S; Hernandez-Hernandez, L; Custodio, HM; Gorman, KM; Vezyroglou, A; ... Kurian, MA; + view all (2021) RHOBTB2 mutations expand the phenotypic spectrum of alternating hemiplegia of childhood. Neurology , 96 (11) e1539-e1550. 10.1212/WNL.0000000000011543.

Zappa, G; LoMauro, A; Baranello, G; Cavallo, E; Corti, P; Mastella, C; Costantino, MA; (2021) Intellectual abilities, language comprehension, speech, and motor function in children with spinal muscular atrophy type 1. Journal of Neurodevelopmental Disorders , 13 , Article 9. 10.1186/s11689-021-09355-4. Green open access

This list was generated on Thu Apr 15 00:57:10 2021 BST.