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Article

Aartsma-Rus, A; Morgan, J; Lonkar, P; Neubert, H; Owens, J; Binks, M; Montolio, M; ... Arechavala-Gomeza, V; + view all (2019) Report of a TREAT-NMD/World Duchenne Organisation Meeting on Dystrophin Quantification Methodology. Journal of Neuromuscular Diseases 10.3233/JND-180357. (In press). Green open access
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Angius, A; Uva, P; Oppo, M; Buers, I; Persico, I; Onano, S; Cuccuru, G; ... Crisponi, L; + view all (2019) Exome sequencing in Crisponi/cold‐induced sweating syndrome–like individuals reveals unpredicted alternative diagnoses. Clinical Genetics , 95 (5) pp. 607-614. 10.1111/cge.13532.

Argyropoulos, GPD; Watkins, KE; Belton- Pagnamenta, E; Liégeois, FJ; Saleem, KS; Mishkin, M; Vargha-Khadem, F; (2019) Neocerebellar Crus I abnormalities associated with a speech and language disorder due to a mutation in FOXP2. The Cerebellum 10.1007/s12311-018-0989-3. (In press). Green open access
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Bachmann, C; Noreen, F; Voermans, NC; Schar, PL; Vissing, J; Fock, JM; Bulk, S; ... Treves, S; + view all (2019) Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies. Human Mutation 10.1002/humu.23745. (In press).

Baranello, G; Signorini, S; Tinelli, F; Guzzetta, A; Pagliano, E; Rossi, A; Foscan, M; ... On Behalf of the VFCS Study Group, .; + view all (2019) Visual Function Classification System for children with cerebral palsy: development and validation. Developmental Medicine and Child Neurology 10.1111/dmcn.14270. (In press).

Barona, M; Brown, M; Clark, C; Frangou, S; White, T; Micali, N; (2019) White matter alterations in anorexia nervosa: Evidence from a voxel-based meta-analysis. Neuroscience & Biobehavioral Reviews , 100 pp. 285-295. 10.1016/j.neubiorev.2019.03.002.

Bathelt, J; Dale, NJ; de Haan, M; Clark, CA; (2019) Brain structure in children with congenital visual disorders and visual impairment. Developmental Medicine and Child Neurology 10.1111/dmcn.14322. (In press). Green open access
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Bathelt, J; de Haan, M; Dale, NJ; (2019) Adaptive behaviour and quality of life in school-age children with congenital visual disorders and different levels of visual impairment. Research in Developmental Disabilities , 85 pp. 154-162. 10.1016/j.ridd.2018.12.003.

Beecham, E; Langner, R; Hargrave, D; Bluebond-Langner, M; (2019) Children's and Parents' Conceptualization of Quality of Life in Children With Brain Tumors: A Meta-Ethnographic Exploration. Qualitative Health Research , 29 (1) pp. 55-68. 10.1177/1049732318786484. Green open access
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Bertoli, S; Foppiani, A; De Amicis, R; Leone, A; Mastella, C; Bassano, M; Giaquinto, E; ... Battezzati, A; + view all (2019) Anthropometric measurement standardization for a multicenter nutrition survey in children with spinal muscular atrophy. European Journal of Clinical Nutrition 10.1038/s41430-019-0392-2. (In press). Green open access
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Bolduc, V; Foley, AR; Solomon-Degefa, H; Sarathy, A; Donkervoort, S; Hu, Y; Chen, GS; ... Bönnemann, CG; + view all (2019) A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. JCI Insight , 4 (6) 10.1172/jci.insight.124403. Green open access
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Brayson, D; Frigiola, A; Clark, JE; (2019) Dynamic heart rate response to multi-day unsupported ultra-endurance cycle racing: a case report. Experimental Physiology , 104 (2) pp. 174-179. 10.1113/EP087341.

Brewin, J; Tewari, S; Menzel, S; Kirkham, F; Inusa, B; Renney, G; Ward, M; (2019) The effects of hydroxycarbamide on the plasma proteome of children with sickle cell anaemia. British Journal of Haematology 10.1111/bjh.15996. (In press).

Brogna, C; Coratti, G; Pane, M; Ricotti, V; Messina, S; D'Amico, A; Bruno, C; ... on behalf on the International DMD group, .; + view all (2019) Long-term natural history data in Duchenne muscular dystrophy ambulant patients with mutations amenable to skip exons 44, 45, 51 and 53. PLoS One , 14 (6) , Article e0218683. 10.1371/journal.pone.0218683. Green open access
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Carecchio, M; Invernizzi, F; Gonzàlez-Latapi, P; Panteghini, C; Zorzi, G; Romito, L; Leuzzi, V; ... Nardocci, N; + view all (2019) Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study. Movement Disorders 10.1002/mds.27771. (In press).

Chalkiadis, G; Goobie, S; Walker, S; (2019) Are opioids pediatric anesthesiologists' sword of Damocles? With great power comes great responsibility and risk. Pediatric Anesthesia , 29 (6) pp. 544-546. 10.1111/pan.13659.

Charalambous, T; Tur, C; Prados, F; Kanber, B; Chard, DT; Ourselin, S; Clayden, JD; ... Toosy, AT; + view all (2019) Structural network disruption markers explain disability in multiple sclerosis. Journal of Neurology, Neurosurgery and Psychiatry , 90 (2) pp. 219-226. 10.1136/jnnp-2018-318440. Green open access
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Clayden, J; Thomas, D; Kraskov, A; (2019) Tractography-based parcellation does not provide strong evidence of anatomical organisation within the thalamus. NeuroImage , 199 pp. 418-426. 10.1016/j.neuroimage.2019.06.019.

Cooper, HE; Kaden, E; Halliday, LF; Bamiou, D-E; Mankad, K; Peters, C; Clark, CA; (2019) White matter microstructural abnormalities in children with severe congenital hypothyroidism. NeuroImage: Clinical , 24 , Article 101980. 10.1016/j.nicl.2019.101980. Green open access
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Coppola, A; Cellini, E; Stamberger, H; Saarentaus, E; Cetica, V; Lal, D; Djémié, T; ... EpiCNV Consortium, .; + view all (2019) Diagnostic implications of genetic copy number variation in epilepsy plus. Epilepsia 10.1111/epi.14683. (In press). Green open access
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Corbet Burcher, G; Liang, H; Lancaster, R; Cross, JH; Tisdall, M; Varadkar, S; Spoudeas, HA; ... Heyman, I; + view all (2019) Neuropsychiatric profile of paediatric hypothalamic hamartoma: systematic review and case series. Developmental Medicine and Child Neurology 10.1111/dmcn.14241. (In press).

Darras, BT; Crawford, TO; Finkel, RS; Mercuri, E; De Vivo, DC; Oskoui, M; Tizzano, EF; ... Sumner, CJ; + view all (2019) Neurofilament as a potential biomarker for spinal muscular atrophy. Annals of Clinical and Translational Neurology , 6 (5) pp. 932-944. 10.1002/acn3.779. Green open access
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Dion, C; Roche, S; Laberthonnière, C; Broucqsault, N; Mariot, V; Xue, S; Gurzau, AD; ... Magdinier, F; + view all (2019) SMCHD1 is involved in de novo methylation of the DUX4-encoding D4Z4 macrosatellite. Nucleic Acids Research , Article gkz005. 10.1093/nar/gkz005. (In press). Green open access
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Downes, M; Kirkham, FJ; Berg, C; Telfer, P; De Haan, M; (2019) Executive performance on the preschool executive task assessment in children with sickle cell anemia and matched controls. Child Neuropsychology , 25 (2) pp. 278-285. 10.1080/09297049.2018.1491962. Green open access
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Downes, M; de Haan, M; Telfer, PT; Kirkham, FJ; (2019) The Role of Family Functioning in the Development of Executive Functions in Preschool Children with Sickle Cell Anemia. Developmental Neuropsychology 10.1080/87565641.2019.1660779. (In press).

Edlmann, E; Thelin, EP; Caldwell, K; Turner, C; Whitfield, P; Bulters, D; Holton, P; ... Dex-CSDH trial collaborative and BNTRC collaborative., ; + view all (2019) Dex-CSDH randomised, placebo-controlled trial of dexamethasone for chronic subdural haematoma: report of the internal pilot phase. Scientific Reports , 9 (1) , Article 5885. 10.1038/s41598-019-42087-z. Green open access
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Elbaz, M; Ruiz, A; Eckhardt, J; Pelczar, P; Muntoni, F; Boncompagni, S; Treves, S; (2019) Quantitative reduction of RyR1 protein caused by a single-allele frameshift mutation in RYR1 ex36 impairs the strength of adult skeletal muscle fibres. Human Molecular Genetics 10.1093/hmg/ddz025. (In press).

Elfeky, R; Shah, RM; Unni, MN; Ottaviano, G; Rao, K; Chiesa, R; Amrolia, P; ... Veys, P; + view all (2019) New graft manipulation strategies improved outcome of mismatched stem cell transplantation in children with primary immunodeficiencies. Journal of Allergy and Clinical Immunology 10.1016/j.jaci.2019.01.030. (In press).

Foley, E; Cross, JH; Thai, NJ; Walsh, AR; Bill, P; Furlong, P; Wood, AG; ... Seri, S; + view all (2019) MEG Assessment of Expressive Language in Children Evaluated for Epilepsy Surgery. Brain Topography 10.1007/s10548-019-00703-1. (In press). Green open access
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Gagunashvili, AN; Ocaka, L; Kelberman, D; Munot, P; Bacchelli, C; Beales, PL; Ganesan, V; (2019) Novel missense variants in the RNF213 gene from a European family with Moyamoya disease. Human Genome Variation , 6 , Article 35. 10.1038/s41439-019-0066-6. Green open access
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Gerli, MFM; Moyle, LA; Benedetti, S; Ferrari, G; Ucuncu, E; Ragazzi, M; Constantinou, C; ... Tedesco, FS; + view all (2019) Combined Notch and PDGF Signaling Enhances Migration and Expression of Stem Cell Markers while Inducing Perivascular Cell Features in Muscle Satellite Cells. Stem Cell Reports 10.1016/j.stemcr.2019.01.007. (In press). Green open access
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Gerstl, L; Badura, K; Heinen, F; Weinberger, R; Peraud, A; Dorn, F; Bonfert, MV; ... O'Callaghan, FJ; + view all (2019) Childhood haemorrhagic stroke: a 7-year single-centre experience. Archives of Disease in Childhood 10.1136/archdischild-2018-316749. (In press). Green open access
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Goergen, SK; Alibrahim, E; Govender, N; Stanislavsky, A; Abel, C; Prystupa, S; Collett, J; ... Arthurs, OJ; + view all (2019) Diagnostic assessment of foetal brain malformations with intra-uterine MRI versus perinatal post-mortem MRI. Neuroradiology 10.1007/s00234-019-02218-9. (In press). Green open access
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Goh, V; National Institute for Health Research Clinical Research Network, .; Royal College of Radiologists' Academic Committee, .; (2019) The National Institute for Health Research: making an impact in imaging research. Clinical Radiology , 74 (3) pp. 242-246. 10.1016/j.crad.2018.11.012.

Gorman, KM; Meyer, E; Grozeva, D; Spinelli, E; McTague, A; Sanchis-Juan, A; Carss, KJ; ... Kurian, MA; + view all (2019) Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia. American Journal of Human Genetics , 104 (5) pp. 948-956. 10.1016/j.ajhg.2019.03.005.

Graham, RJ; Muntoni, F; Hughes, I; Yum, SW; Kuntz, NL; Yang, ML; Byrne, BJ; ... Beggs, AH; + view all (2019) Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis. Archives of Disease in Childhood 10.1136/archdischild-2019-317910. (In press). Green open access
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Gregory, A; Lotia, M; Jeong, SY; Fox, R; Zhen, D; Sanford, L; Hamada, J; ... Hayflick, SJ; + view all (2019) Autosomal dominant mitochondrial membrane protein-associated neurodegeneration (MPAN). Molecular Genetics & Genomic Medicine , Article e736. 10.1002/mgg3.736. (In press). Green open access
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Groeschel, S; Holmstroem, L; Northam, G; Tournier, J-D; Baldeweg, T; Latal, B; Caflisch, J; (2019) Motor Abilities in Adolescents Born Preterm Are Associated With Microstructure of the Corpus Callosum. Frontiers in Neurology , 10 (367) 10.3389/fneur.2019.00367. Green open access
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Guilliams, KP; Kirkham, FJ; Holzhauer, S; Pavlakis, S; Philbrook, B; Amlie-Lefond, C; Noetzel, MJ; ... Dowling, MM; + view all (2019) Arteriopathy Influences Pediatric Ischemic Stroke Presentation, but Sickle Cell Disease Influences Stroke Management. Stroke , 50 (5) pp. 1089-1094. 10.1161/STROKEAHA.118.022800.

Hales, PW; d'Arco, F; Cooper, J; Pfeuffer, J; Hargrave, D; Mankad, K; Clark, C; (2019) Arterial spin labelling and diffusion-weighted imaging in paediatric brain tumours. Neuroimage: Clinical , 22 , Article 101696. 10.1016/j.nicl.2019.101696. Green open access
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Haworth, S; Shapland, CY; Hayward, C; Prins, BP; Felix, JF; Medina-Gomez, C; Rivadeneira, F; ... St Pourcain, B; + view all (2019) Low-frequency variation in TP53 has large effects on head circumference and intracranial volume. Nature Communications , 10 , Article 357. 10.1038/s41467-018-07863-x. Green open access
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Howard, J; Lee, SA; Inusa, B; Cheng, MYE; Bavenjit, C; Reading, IC; Wakeford, SA; ... Liossi, C; + view all (2019) Prevention of Morbidity in Sickle Cell Disease (POMS2a)-overnight auto-adjusting continuous positive airway pressure compared with nocturnal oxygen therapy: a randomised crossover pilot study examining patient preference and safety in adults and children. Trials , 20 (1) , Article 442. 10.1186/s13063-019-3461-x. Green open access
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Hutchinson, C; Shelmerdine, SC; Lewis, C; Parmenter, J; Simcock, IC; Ward, L; Ashworth, MT; ... Sebire, NJ; + view all (2019) Feasibility and experience of the MinImAL procedure: Minimally Invasive perinatal and paediatric Autopsies with Laparoscopically assisted tissue sampling. Ultrasound in Obstetrics and Gynecology 10.1002/uog.20211. (In press).

Jansen, AC; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; D'Amato, L; ... Trollmann, R; + view all (2019) Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study. Frontiers in Neurology , 10 , Article 821. 10.3389/fneur.2019.00821. Green open access
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Jansen, AC; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; ... Trollmann, R; + view all (2019) Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex. Frontiers in Neurology , 10 , Article 705. 10.3389/fneur.2019.00705. Green open access
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Jones, C; Atkinson, P; Memon, A; Dabydeen, L; Das, KB; Cross, JH; Gillberg, C; ... Reilly, C; + view all (2019) Experiences and needs of parents of young children with active epilepsy: A population-based study. Epilepsy & Behavior , 90 pp. 37-44. 10.1016/j.yebeh.2018.10.031.

Jones, HF; Morales-Briceño, H; Barwick, K; Lewis, J; Sanchis-Juan, A; Raymond, FL; Stewart, K; ... Mohammad, SS; + view all (2019) Myoclonus-dystonia caused by GNB1 mutation responsive to deep brain stimulation. [Letter]. Movement Disorders 10.1002/mds.27708. (In press).

Kang, X; Cos Sanchez, T; Arthurs, OJ; Bevilacqua, E; Cannie, MM; Segers, V; Lecomte, S; ... Jani, JC; + view all (2019) Postmortem fetal imaging: a prospective blinded comparison study of 2-dimensional ultrasound with MR imaging. Ultrasound in Obstetrics and Gynaecology 10.1002/uog.20217. (In press).

Karda, R; Counsell, JR; Karbowniczek, K; Caproni, LJ; Tite, JP; Waddington, N; (2019) Production of lentiviral vectors using novel, enzymatically-produced, linear DNA vectors. Gene Therapy 10.1038/s41434-018-0056-1. (In press). Green open access
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Kija, EN; Saunders, DE; Munubhi, E; Darekar, A; Barker, S; Cox, TCS; Mango, M; ... Newton, CRJC; + view all (2019) Transcranial Doppler and Magnetic Resonance in Tanzanian Children With Sickle Cell Disease. Stroke , 50 (7) pp. 1719-1726. 10.1161/STROKEAHA.118.018920. Green open access
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Lewis, C; Hutchinson, JC; Riddington, M; Hill, M; Arthurs, OJ; Fisher, J; Wade, A; ... Sebire, NJ; + view all (2019) Minimally invasive autopsy for fetuses and children based on a combination of post-mortem MRI and endoscopic examination: a feasibility study. Health Technology Assessment , 23 (46) 10.3310/hta23460. Green open access
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Lewis, C; Riddington, M; Hill, M; Arthurs, OJ; Hutchinson, JC; Chitty, LS; Bevan, C; ... Sebire, NJ; + view all (2019) Availability of Less Invasive Prenatal, Perinatal and Paediatric Autopsy will Improve Uptake Rates; A Mixed Methods Study with Bereaved Parents. BJOG: An International Journal of Obstetrics & Gynaecology 10.1111/1471-0528.15591. (In press).

Li, C; Wang, S; Liu, P; Torheim, T; Boonzaier, NR; van Dijken, BR; Schönlieb, C-B; ... Price, SJ; + view all (2019) Decoding the Interdependence of Multiparametric Magnetic Resonance Imaging to Reveal Patient Subgroups Correlated with Survivals. Neoplasia , 21 (5) pp. 442-449. 10.1016/j.neo.2019.03.005. Green open access
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Li, C; Wang, S; Serra, A; Torheim, T; Yan, J-L; Boonzaier, NR; Huang, Y; ... Price, SJ; + view all (2019) Multi-parametric and multi-regional histogram analysis of MRI: modality integration reveals imaging phenotypes of glioblastoma. European Radiology 10.1007/s00330-018-5984-z. (In press). Green open access
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Li, C; Wang, S; Yan, J-L; Torheim, T; Boonzaier, NR; Sinha, R; Matys, T; ... Price, SJ; + view all (2019) Characterizing tumor invasiveness of glioblastoma using multiparametric magnetic resonance imaging. Journal of Neurosurgery 10.3171/2018.12.JNS182926. (In press).

Li, C; Yan, JL; Torheim, T; McLean, MA; Boonzaier, NR; Zou, J; Huang, Y; ... Price, SJ; + view all (2019) Low perfusion compartments in glioblastoma quantified by advanced magnetic resonance imaging and correlated with patient survival. Radiotherapy and Oncology , 134 pp. 17-24. 10.1016/j.radonc.2019.01.008. Green open access
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Liegeois, FJ; Mei, C; Pigdon, L; Lee, KJ; Stojanowski, B; Mackay, M; Morgan, A; (2019) Speech and language impairments after childhood arterial ischemic stroke: does hemisphere matter? Pediatric Neurology , 92 pp. 55-59. 10.1016/j.pediatrneurol.2018.11.006.

Liégeois, FJ; Turner, SJ; Mayes, A; Bonthrone, AF; Boys, A; Smith, L; Parry-Fielder, B; ... Morgan, AT; + view all (2019) Dorsal language stream anomalies in an inherited speech disorder. Brain , 142 (4) pp. 966-977. 10.1093/brain/awz018.

Lorio, S; Tierney, TM; McDowell, A; Arthurs, OJ; Lutti, A; Weiskopf, N; Carmichael, DW; (2019) Flexible proton density (PD) mapping using multi-contrast variable flip angle (VFA) data. Neuroimage , 186 pp. 464-475. 10.1016/j.neuroimage.2018.11.023. (In press). Green open access
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MacLennan, AH; Lewis, S; Moreno-De-Luca, A; Fahey, M; Leventer, RJ; McIntyre, S; Ben-Pazi, H; ... Gecz, J; + view all (2019) Genetic or Other Causation Should Not Change the Clinical Diagnosis of Cerebral Palsy. Journal of Child Neurology 10.1177/0883073819840449. (In press). Green open access
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Marchet, S; Invernizzi, F; Blasevich, F; Bruno, V; Dusi, S; Venco, P; Fiorillo, C; ... Lamperti, C; + view all (2019) Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene. Mitochondrion , 47 pp. 24-29. 10.1016/j.mito.2019.04.002.

Martin-McGill, KJ; Lambert, B; Whiteley, VJ; Wood, S; Neal, EG; Simpson, ZR; Schoeler, NE; (2019) Understanding the core principles of a 'modified ketogenic diet': a UK and Ireland perspective. Journal of Human Nutrition and Dietetics , 32 (3) pp. 385-390. 10.1111/jhn.12637.

Martinos, MM; Pujar, S; O'Reilly, H; de Haan, M; Neville, BGR; Scott, RC; Chin, RFM; (2019) Intelligence and memory outcomes within 10 years of childhood convulsive status epilepticus. Epilepsy & Behavior , 95 pp. 18-25. 10.1016/j.yebeh.2019.03.039. Green open access
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McCrea, N; Fullerton, HJ; Ganesan, V; (2019) Genetic and Environmental Associations With Pediatric Cerebral Arteriopathy Insights Into Disease Mechanisms. Stroke , 50 (2) pp. 257-265. 10.1161/STROKEAHA.118.020479. Green open access
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McKevitt, C; Topor, M; Panton, A; Mallick, AA; Ganesan, V; Wraige, E; Gordon, A; (2019) Seeking normality: Parents' experiences of childhood stroke. Child: Care, Health and Development , 45 (1) pp. 89-95. 10.1111/cch.12622.

Mctague, A; (2019) Navigating the genetic landscape of childhood epilepsy: a new perspective? Developmental Medicine & Child Neurology , 61 (8) pp. 858-859. 10.1111/dmcn.14203. (In press).

Mee, H; Kolias, AG; Chari, A; Ercole, A; Lecky, F; Turner, C; Tudur-Smith, C; ... Hutchinson, PJ; + view all (2019) Pharmacological management of post-traumatic seizures in adults: current practice patterns in the UK and the Republic of Ireland. Acta Neurochirurgica 10.1007/s00701-018-3683-9. (In press). Green open access
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Mohan, M; Islim, AI; Rasul, FT; Rominiyi, O; deSouza, R-M; Poon, MTC; Jamjoom, AAB; ... British Neurosurgical Trainee Research Collaborative, .; + view all (2019) Subarachnoid haemorrhage with negative initial neurovascular imaging: a systematic review and meta-analysis. Acta Neurochirurgica 10.1007/s00701-019-04025-w. Green open access
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Montes, J; Dunaway Young, S; Mazzone, ES; Pasternak, A; Glanzman, AM; Finkel, RS; Darras, BT; ... CS2 and CS12 Study Groups, .; + view all (2019) Nusinersen Improves Walking Distance and Reduces Fatigue in Later-Onset SMA. Muscle & Nerve 10.1002/mus.26633. (In press).

Morgan, J; Butler-Browne, G; Muntoni, F; Patel, K; Skeletal Muscle Stem Cells Involvement in Pathology Study Group, ; (2019) 240th ENMC workshop: The involvement of skeletal muscle stem cells in the pathology of muscular dystrophies 25-27 January 2019, Hoofddorp, The Netherlands. Neuromuscular Disorders 10.1016/j.nmd.2019.07.003. (In press).

Moriarty, O; Tu, Y; Sengar, AS; Salter, MW; Beggs, S; Walker, SM; (2019) Priming of adult incision response by early life injury: neonatal microglial inhibition has persistent but sexually dimorphic effects in adult rats. Journal of Neuroscience 10.1523/JNEUROSCI.1786-18.2019. (In press). Green open access
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Moyle, LA; Tedesco, FS; Benedetti, S; (2019) Pericytes in Muscular Dystrophies. Advances in Experimental Medicine and Biology , 1147 pp. 319-344. 10.1007/978-3-030-16908-4_15. (In press).

Mozzetta, C; Tedesco, FS; (2019) Challenging the "chromatin hypothesis" of cardiac laminopathies with LMNA mutant iPS cells. Journal of Cell Biology 10.1083/jcb.201907166. (In press). Green open access
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Muntoni, F; Desguerre, I; Guglieri, M; Osorio, AN; Kirschner, J; Tulinius, M; Buccella, F; ... Mercuri, E; + view all (2019) Ataluren use in patients with nonsense mutation Duchenne muscular dystrophy: patient demographics and characteristics from the STRIDE Registry. Journal of Comparative Effectiveness Research 10.2217/cer-2019-0086. (In press). Green open access
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Muntoni, F; Domingos, J; Manzur, AY; Mayhew, A; Guglieri, M; UK NorthStar Network, ; Sajeev, G; ... Ward, SJ; + view all (2019) Categorising trajectories and individual item changes of the North Star Ambulatory Assessment in patients with Duchenne muscular dystrophy. PLoS One , 14 (9) , Article e0221097. 10.1371/journal.pone.0221097. Green open access
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Muntoni, F; Tejura, B; Spinty, S; Roper, H; Hughes, I; Layton, G; Davies, KE; ... Tinsley, J; + view all (2019) A Phase 1b Trial to Assess the Pharmacokinetics of Ezutromid in Pediatric Duchenne Muscular Dystrophy Patients on a Balanced Diet. Clinical Pharmacology in Drug Development 10.1002/cpdd.642. (In press).

Nabbout, R; Belousova, E; Benedik, MP; Carter, T; Cottin, V; Curatolo, P; Dahlin, M; ... TOSCA Consortium and TOSCA Investigators, ; + view all (2019) Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study. Epilepsia Open , 4 (1) pp. 73-84. 10.1002/epi4.12286. Green open access
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Northam, GB; Morgan, AT; Fitzsimmons, S; Baldeweg, T; Liegeois, F; (2019) Corticobulbar Tract Injury, Oromotor Impairment and Language Plasticity in Adolescents Born Preterm. Frontiers in Human Neuroscience , 13 , Article 45. 10.3389/fnhum.2019.00045. Green open access
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Nunes, ML; Yozawitz, EG; Zuberi, S; Mizrahi, EM; Cilio, MR; Moshé, SL; Plouin, P; ... Task Force on Neonatal Seizures, ILAE Commission on Classificati, ; + view all (2019) Neonatal seizures: Is there a relationship between ictal electroclinical features and etiology? A critical appraisal based on a systematic literature review. Epilepsia Open , 4 (1) pp. 10-29. 10.1002/epi4.12298. Green open access
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O'Callaghan, F; (2019) Cannabis derived medicinal products in child neurology. Cannabis derived medicinal products in child neurology , 61 (6) p. 622. 10.1111/dmcn.14232.

Omairi, S; Hau, K-L; Collins-Hooper, H; Scott, C; Vaiyapuri, S; Torelli, S; Montanaro, F; ... Patel, K; + view all (2019) Regulation of the dystrophin-associated glycoprotein complex composition by the metabolic properties of muscle fibres. Scientific Reports , 9 , Article 2770. 10.1038/s41598-019-39532-4. Green open access
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Palmer, AJR; Ayyar Gupta, V; Fernquest, S; Rombach, I; Dutton, SJ; Mansour, R; Wood, S; ... FAIT Study Group, ; + view all (2019) Arthroscopic hip surgery compared with physiotherapy and activity modification for the treatment of symptomatic femoroacetabular impingement: multicentre randomised controlled trial. BMJ , 364 , Article l185. 10.1136/bmj.l185. Green open access
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Pera, MC; Coratti, G; Mazzone, ES; Montes, J; Scoto, M; De Sanctis, R; Main, M; ... iSMAC Consortium Group, .; + view all (2019) Revised Upper Limb Module for Spinal Muscular Atrophy: 12 month changes. Muscle Nerve 10.1002/mus.26419. (In press).

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Proceedings paper

Powell, E; Prados, F; Chard, D; Toosy, A; Clayden, JD; Wheeler-Kingshott, CGAM; (2019) Edge Weights and Network Properties in Multiple Sclerosis. In: Frangi, Alejandro and Alberola-Lopez, Carlos, (eds.) Proceedings of the 21st International Conference on Medical Image Computing and Computer-Assisted Intervention (MICCAI 2018). (pp. pp. 281-291). Springer: Cham, Switzerland.

This list was generated on Sun Sep 15 03:07:00 2019 BST.