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Number of items: 181.

A

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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Abdel-Mannan, O; D'Argenzio, L; Pitt, M; D'Arco, F; Bhate, S; Hacohen, Y; Kaliakatsos, M; (2019) Two Cases of Guillain-Barré Syndrome Variants Presenting With Dysautonomia. Child Neurology Open , 6 (1-5) 10.1177/2329048X19856778. Green open access
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Amin, S; Mallick, AA; Lux, A; O'Callaghan, F; (2019) Quality of life in patients with Tuberous Sclerosis Complex (TSC). European Journal of Paediatric Neurology , 23 (6) pp. 801-807. 10.1016/j.ejpn.2019.09.006.

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.

Annear, NMP; Appleton, RE; Bassi, Z; Bhatt, R; Bolton, PF; Crawford, P; Crowe, A; ... Kingswood, JC; + view all (2019) Tuberous Sclerosis Complex (TSC): Expert Recommendations for Provision of Coordinated Care. Frontiers in Neurology , 10 , Article 1116. 10.3389/fneur.2019.01116. Green open access
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Apps, J; Hutchinson, C; Shelmerdine, S; Virasami, A; Winter, E; Jacques, T; Martinez-Barbera, J-P; ... Czech, T; + view all (2019) Learning from cases: Analysis of two cases of craniopharyngioma from the 19th to the 21st centuries. F1000Research , 8 , Article 1544. 10.12688/f1000research.19626.1. Green open access
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Ardicli, D; Sarkozy, A; Zaharieva, I; Deshpande, C; Bodi, I; Siddiqui, A; U-King-Im, JM; ... Muntoni, F; + view all (2019) A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement. Neuromuscular Disorders , 29 (6) pp. 448-455. 10.1016/j.nmd.2019.03.011.

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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Arthur, L; Keen, K; Verriotis, M; Peters, J; Kelly, A; Howard, RF; Dib-Hajj, SD; ... Walker, SM; + view all (2019) Pediatric Erythromelalgia and SCN9A Mutations: Systematic Review and Single-Center Case Series. The Journal of Pediatrics , 206 217-224.e9. 10.1016/j.jpeds.2018.10.024. Green open access
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Aughwane, R; Schaaf, C; Hutchinson, JC; Virasami, A; Zuluaga, MA; Sebire, N; Arthurs, OJ; ... David, AL; + view all (2019) Micro-CT and histological investigation of the spatial pattern of feto-placental vascular density. Placenta 10.1016/j.placenta.2019.09.014. (In press). Green open access
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Auvin, S; Avbersek, A; Bast, T; Chiron, C; Guerrini, R; Kaminski, RM; Lagae, L; ... Cross, JH; + view all (2019) Drug Development for Rare Paediatric Epilepsies: Current State and Future Directions. Drugs , 79 (18) pp. 1917-1935. 10.1007/s40265-019-01223-9.

B

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).

Barba, C; Cross, JH; Braun, K; Cossu, M; Klotz, KA; De Masi, S; Perez Jimenez, MA; ... Lucenteforte, E; + view all (2019) Trends in pediatric epilepsy surgery in Europe between 2008 and 2015: Country‐, center‐, and age‐specific variation. Epilepsia 10.1111/epi.16414. (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.

Baruteau, J; Khalil, Y; Grunewald, S; Zancolli, M; Chakrapani, A; Cleary, M; Davison, J; ... Mills, P; + view all (2019) Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment. Metabolites , 9 (11) , Article 275. 10.3390/metabo9110275. Green open access
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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. Green open access
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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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Botcharova, M; Farmer, SF; Berthouze, L; (2019) A maximum likelihood based technique for validating detrended fluctuation analysis (ML-DFA). (In press).

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. Green open access
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Brayson, D; Frustaci, A; Verardo, R; Chimenti, C; Russo, MA; Hayward, R; Ahmad, SM; ... Shanahan, CM; + view all (2019) Prelamin A mediates inflammation in dilated and HIV associated cardiomyopathies. JCI Insight , 4 (22) , Article e126315. 10.1172/jci.insight.126315. Green open access
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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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Burgess, R; Wang, S; McTague, A; Boysen, KE; Yang, X; Zeng, Q; Myers, KA; ... Scheffer, IE; + view all (2019) Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures. Annals of Neurology 10.1002/ana.25619. (In press).

C

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).

Corcoles-Parada, M; Gimenez-Mateo, R; Serrano-del-Pueblo, V; Lopez, L; Perez-Hernandez, E; Mansilla, F; Martinez, A; ... Munoz-Lopez, M; + view all (2019) Born Too Early and Too Small: Higher Order Cognitive Function and Brain at Risk at Ages 8-16. Frontiers in Psychology , 10 , Article 1942. 10.3389/fpsyg.2019.01942. Green open access
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Cross, JH; Cock, H; (2019) A perspective on cannabinoids for treating epilepsy: Do they really change the landscape? Neuropharmacology , Article 107861. 10.1016/j.neuropharm.2019.107861. (In press).

Cross, JH; Lagae, L; (2019) The concept of disease modification. European Journal of Paediatric Neurology 10.1016/j.ejpn.2019.12.005. (In press).

D

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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De Roever, I; Vezyroglou, A; Hebden, P; Thornton, R; Worley, A; Alves, M; Dean, E; ... Tachtsidis, I; + view all (2019) A new multichannel broadband NIRS system for quantitative monitoring of brain hemodynamics and metabolism during seizures. In: Dehghani, H and Wabnitz, H, (eds.) Diffuse Optical Spectroscopy and Imaging VII. SPIE: Munich, Germany. Green open access
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Deguise, M-O; Baranello, G; Mastella, C; Beauvais, A; Michaud, J; Leone, A; De Amicis, R; ... Kothary, R; + view all (2019) Abnormal fatty acid metabolism is a core component of spinal muscular atrophy. Annals of Clinical and Translational Neurology , 6 (8) pp. 1519-1532. 10.1002/acn3.50855. 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).

deVeber, G; Kirkham, F; Shannon, K; Brandão, L; Sträter, R; Kenet, G; Clausnizer, H; ... Nowak-Göttl, U; + view all (2019) Recurrent stroke: the role of thrombophilia in a large international pediatric stroke population. Haematologica , 104 (8) pp. 1676-1681. 10.3324/haematol.2018.211433. Green open access
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E

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). Green open access
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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).

F

Flower, M; Lomeikaite, V; Ciosi, M; Cumming, S; Morales, F; Lo, K; Hensman Moss, D; ... Tabrizi, SJ; + view all (2019) MSH3 modifies somatic instability and disease severity in Huntington's and myotonic dystrophy type 1. Brain , 142 (7) pp. 1876-1886. 10.1093/brain/awz115. Green open access
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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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Fullerton, HJ; Ganesan, V; Jordan, LC; Kirton, A; Mackay, MT; Steinlin, M; (2019) Building a Career as a Pediatric Stroke Neurologist. Stroke , 50 (10) e287-e289. 10.1161/STROKEAHA.119.026187. (In press).

G

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 , 12 (3) pp. 461-473. 10.1016/j.stemcr.2019.01.007. 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. Green open access
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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.

H

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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Horsfall, HL; Mohan, M; Devi, BI; Adeleye, AO; Shukla, DP; Bhat, D; Khan, M; ... Kolias, AG; + view all (2019) Hinge/floating craniotomy as an alternative technique for cerebral decompression: a scoping review. Neurosurgical Review 10.1007/s10143-019-01180-7. (In press). 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). Green open access
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J

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. Green open access
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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).

Jungbluth, H; Muntoni, F; (2019) Therapeutic Aspects in Congenital Myopathies. Seminars in Pediatric Neurology , 29 pp. 71-82. 10.1016/j.spen.2019.01.004. Green open access
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K

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). Green open access
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Kang, X; Shelmerdine, SC; Hurtado, I; Bevilacqua, E; Hutchinson, C; Mandalia, U; Segers, V; ... Jani, JC; + view all (2019) Postmortem examination of human fetuses: a comparison of 2-dimensional ultrasound with invasive autopsy. Ultrasound in Obstetric and Gynecology , 53 (2) pp. 229-238. 10.1002/uog.18828. Green open access
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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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Katus, L; Hayes, N; Mason, L; Blasi, A; McCann, S; Darboe, M; de Haan, M; ... Elwell, C; + view all (2019) Implementing neuroimaging and eye tracking methods to assess neurocognitive development of young infants in low- and middle-income countries [version 2; peer review: 2 approved]. Gates Open Research , 3 , Article 1113. 10.12688/gatesopenres.12951.2. 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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Kim, J; Lana, B; Torelli, S; Ryan, D; Catapano, F; Ala, P; Luft, C; ... Lin, Y-Y; + view all (2019) A new patient-derived iPSC model for dystroglycanopathies validates a compound that increases glycosylation of α-dystroglycan. EMBO Reports , Article e47967. 10.15252/embr.201947967. (In press). Green open access
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Krieger, TG; Moran, CM; Frangini, A; Visser, WE; Schoenmakers, E; Muntoni, F; Clark, CA; ... Livesey, FJ; + view all (2019) Mutations in thyroid hormone receptor α1 cause premature neurogenesis and progenitor cell depletion in human cortical development. Proceedings of the National Academy of Sciences of the United States of America , 116 (45) pp. 22754-22763. 10.1073/pnas.1908762116. Green open access
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L

Lagae, L; Sullivan, J; Knupp, K; Laux, L; Polster, T; Nikanorova, M; Devinsky, O; ... FAiRE DS Study Group, ; + view all (2019) Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial. Lancet , 394 (10216) pp. 2243-2254. 10.1016/S0140-6736(19)32500-0.

Layard Horsfall, H; Chari, A; Huttunen, T; Simcock, C; D'Arco, F; Thompson, D; (2019) Whole spine MRI is not required in investigating uncomplicated paediatric lumbosacral lipoma. A retrospective single-institution review. Child's Nervous System , 35 (11) pp. 2163-2169. 10.1007/s00381-019-04373-z. 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 , 126 (6) pp. 745-753. 10.1111/1471-0528.15591.

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Trucco, F; Rosenthal, M; Bush, A; Tan, H-L; (2019) The McGill score as a screening test for obstructive sleep disordered breathing in children with co-morbidities. Sleep Medicine 10.1016/j.sleep.2019.12.010. Green open access
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Tur, C; Grussu, F; Prados Carrasco, F; Charalambous, T; Collorone, S; Kanber, B; Cawley, N; ... Ciccarelli, O; + view all (2019) A multi-shell multi-tissue diffusion study of brain connectivity in early multiple sclerosis. Multiple Sclerosis Journal 10.1177/1352458519845105. (In press). Green open access
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Van Dijken, BRJ; Van Laar, PJ; Li, C; Yan, J-L; Boonzaier, NR; Price, SJ; Van der Hoorn, A; (2019) Ventricle contact is associated with lower survival and increased peritumoral perfusion in glioblastoma. Journal of Neurosurgery , 131 (3) pp. 717-723. 10.3171/2018.5.JNS18340. Green open access
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Verhaart, IEC; Johnson, A; Thakrar, S; Vroom, E; De Angelis, F; Muntoni, F; Aartsma-Rus, AM; (2019) Muscle biopsies in clinical trials for Duchenne muscular dystrophy - Patients' and caregivers' perspective. Neuromuscular Disorders 10.1016/j.nmd.2019.06.004. (In press). Green open access
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Vincent, AE; White, K; Davey, T; Philips, J; Ogden, RT; Lawess, C; Warren, C; ... Picard, M; + view all (2019) Quantitative 3D Mapping of the Human Skeletal Muscle Mitochondrial Network. Cell Reports , 26 (4) 996-1009.e4. 10.1016/j.celrep.2019.01.010. Green open access
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van der Louw, E; Aldaz, V; Harvey, J; Roan, M; van den Hurk, D; Cross, JH; Auvin, S; (2019) Optimal clinical management of children receiving ketogenic parenteral nutrition: a clinical practice guide. Developmental Medicine and Child Neurology 10.1111/dmcn.14306. (In press). Green open access
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Walker, S; (2019) Early life pain—effects in the adult. Current Opinion in Physiology , 11 pp. 16-24. 10.1016/j.cophys.2019.04.011.

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Wedderburn, LR; Webb, K; Peckham, H; Radziszewska, A; Menon, M; Oliveri, P; Simpson, F; ... Ioannou, Y; + view all (2019) Sex and Pubertal Differences in the Type 1 Interferon Pathway Associate With Both X Chromosome Number and Serum Sex Hormone Concentration. Frontiers in Immunology , 9 , Article 3167. 10.3389/fimmu.2018.03167. Green open access
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Wei, W; Tuna, S; Keogh, MJ; Smith, KR; Aitman, TJ; Beales, PL; Bennett, DL; ... Chinnery, PF; + view all (2019) Germline selection shapes human mitochondrial DNA diversity. Science , 364 (6442) , Article eaau6520. 10.1126/science.aau6520. Green open access
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Whiteley, VJ; Martin-McGill, KJ; Carroll, JH; Taylor, H; Schoeler, NE; (2019) Nice to know: impact of NICE guidelines on ketogenic diet services nationwide. Journal of Human Nutrition and Dietetics 10.1111/jhn.12697. (In press).

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Yan, J-L; Li, C; Boonzaier, NR; Fountain, DM; Larkin, TJ; Matys, T; van der Hoorn, A; (2019) Multimodal MRI characteristics of the glioblastoma infiltration beyond contrast enhancement. Therapeutic Advances in Neurological Disorders , 12 pp. 1-10. 10.1177/1756286419844664. Green open access
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This list was generated on Sun Feb 2 21:45:47 2020 GMT.