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Number of items: 169.
A
Aartsma-Rus, A;
Straub, V;
Hemmings, R;
Haas, M;
Schlosser-Weber, G;
Stoyanova-Beninska, V;
Mercuri, E;
... Balabanov, P; + view all
(2017)
Development of Exon Skipping Therapies for Duchenne Muscular Dystrophy: A Critical Review and a Perspective on the Outstanding Issues.
[Review].
Nucleic Acid Ther
10.1089/nat.2017.0682.
(In press).
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Adler, S;
Lorio, S;
Jacques, TS;
Benova, B;
Gunny, R;
Cross, JH;
Baldeweg, T;
(2017)
Towards in vivo focal cortical dysplasia phenotyping using quantitative MRI.
NeuroImage: Clinical
, 15
pp. 95-105.
10.1016/j.nicl.2017.04.017.
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Adler, S;
Wagstyl, K;
Gunny, R;
Ronan, L;
Carmichael, D;
Cross, JH;
Fletcher, PC;
(2017)
Novel surface features for automated detection of focal cortical dysplasias in paediatric epilepsy.
NeuroImage: Clinical
, 14
pp. 18-27.
10.1016/j.nicl.2016.12.030.
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Adler, SBK;
(2017)
Cortical Morphology and MRI Signal Intensity Analysis in Paediatric Epilepsy.
Doctoral thesis (Ph.D), UCL (University College London).
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Amin, S;
Lux, A;
Calder, N;
Laugharne, M;
Osborne, J;
O'callaghan, F;
(2017)
Causes of mortality in individuals with tuberous sclerosis complex.
Dev Med Child Neurol
, 59
(6)
pp. 612-617.
10.1111/dmcn.13352.
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Amin, S;
Lux, A;
Khan, A;
O'Callaghan, F;
(2017)
Sirolimus Ointment for Facial Angiofibromas in Individuals with Tuberous Sclerosis Complex.
Int Sch Res Notices
, 2017
, Article 8404378. 10.1155/2017/8404378.
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Amin, S;
Slaney, K;
O'Callaghan, FJ;
(2017)
Musculoskeletal involvement in tuberous sclerosis.
Archives of Disease in Childhood
, 102
(2)
p. 178.
10.1136/archdischild-2016-310980.
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Arichi, T;
Whitehead, K;
Barone, G;
Pressler, R;
Padormo, F;
Edwards, AD;
Fabrizi, L;
(2017)
Localization of spontaneous bursting neuronal activity in the preterm human brain with simultaneous EEG-fMRI.
eLIFE
, 6
, Article e27814. 10.7554/eLife.27814.
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Arthurs, OJ;
Hutchinson, JC;
Sebire, NJ;
(2017)
Current issues in postmortem imaging of perinatal and forensic childhood deaths.
Forensic Science, Medicine, and Pathology
, 13
(1)
pp. 58-66.
10.1007/s12024-016-9821-x.
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B
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Bachmann, C;
Jungbluth, H;
Muntoni, F;
Manzur, AY;
Zorzato, F;
Treves, S;
(2017)
Cellular, biochemical and molecular changes in muscles from patients with X-linked myotubular myopathy due to MTM1 mutations.
Human Molecular Genetics
, 26
(2)
pp. 320-332.
10.1093/hmg/ddw388.
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Bathelt, J;
Dale, N;
de Haan, M;
(2017)
Event-related potential response to auditory social stimuli, parent-reported social communicative deficits and autism risk in school-aged children with congenital visual impairment.
Developmental Cognitive Neuroscience
, 27
pp. 10-18.
10.1016/j.dcn.2017.07.003.
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Batllori, M;
Molero-Luis, M;
Ormazabal, A;
Casado, M;
Sierra, C;
Garcia-Cazorla, A;
Kurian, M;
... Artuch, R; + view all
(2017)
Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC.
Nature Protocols
, 12
(11)
pp. 2359-2375.
10.1038/nprot.2017.103.
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Benedetti, S;
Uno, N;
Hoshiya, H;
Ragazzi, M;
Ferrari, G;
Kazuki, Y;
Moyle, LA;
... Tedesco, FS; + view all
(2017)
Reversible immortalisation enables genetic correction of human muscle progenitors and engineering of next-generation human artificial chromosomes for Duchenne muscular dystrophy.
EMBO Molecular Medicine
, 9
(12)
pp. 1623-1764.
10.15252/emmm.201607284.
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Beniczky, S;
Aurlien, H;
Brøgger, JC;
Hirsch, LJ;
Schomer, DL;
Trinka, E;
Pressler, RM;
... Herman, ST; + view all
(2017)
Standardized computer-based organized reporting of EEG: SCORE – Second version.
[Review].
Clinical Neurophysiology
, 128
(11)
pp. 2334-2346.
10.1016/j.clinph.2017.07.418.
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Bernabò, P;
Tebaldi, T;
Groen, EJN;
Lane, FM;
Perenthaler, E;
Mattedi, F;
Newbery, HJ;
... Viero, G; + view all
(2017)
In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology.
Cell Reports
, 21
(4)
pp. 953-965.
10.1016/j.celrep.2017.10.010.
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Bertini, E;
Dessaud, E;
Mercuri, E;
Muntoni, F;
Kirschner, J;
Reid, C;
Lusakowska, A;
... Fontoura, P; + view all
(2017)
Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial.
Lancet Neurology
, 16
(7)
pp. 513-522.
10.1016/S1474-4422(17)30085-6.
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Bertoli, S;
De Amicis, R;
Mastella, C;
Pieri, G;
Giaquinto, E;
Battezzati, A;
Leone, A;
(2017)
Spinal Muscular Atrophy, types I and II: What are the differences in body composition and resting energy expenditure?
Clinical Nutrition
, 36
(6)
pp. 1674-1680.
10.1016/j.clnu.2016.10.020.
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Biferi, MG;
Cohen-Tannoudji, M;
Cappelletto, A;
Giroux, B;
Roda, M;
Astord, S;
Marais, T;
... Barkats, M; + view all
(2017)
A New AAV10-U7-Mediated Gene Therapy Prolongs Survival and Restores Function in an ALS Mouse Model.
Molecular Therapy
, 25
(9)
pp. 2038-2052.
10.1016/j.ymthe.2017.05.017.
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Blumcke, I;
Spreafico, R;
Haaker, G;
Coras, R;
Kobow, K;
Bien, CG;
Pfaefflin, M;
... Avanzini, G; + view all
(2017)
Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery.
The New England Journal of Medicine
, 377
(17)
pp. 1648-1656.
10.1056/NEJMoa1703784.
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Böhm, J;
Bulla, M;
Urquhart, JE;
Malfatti, E;
Williams, SG;
O'Sullivan, J;
Szlauer, A;
... Laporte, J; + view all
(2017)
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.
Human Mutation
, 38
(4)
pp. 426-438.
10.1002/humu.23172.
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Boldrin, L;
Ross, JA;
Whitmore, C;
Doreste, B;
Beaver, C;
Eddaoudi, A;
Pearce, DJ;
(2017)
The effect of calorie restriction on mouse skeletal muscle is sex, strain and time-dependent.
Science Reports
, 7
(1)
, Article 5160. 10.1038/s41598-017-04896-y.
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Boonzaier, NR;
Larkin, TJ;
Matys, T;
van der Hoorn, A;
Yan, J-L;
Price, SJ;
(2017)
Multiparametric MR Imaging of Diffusion and Perfusion in Contrast-enhancing and Nonenhancing Components in Patients with Glioblastoma.
Radiology
, 284
(1)
pp. 180-190.
10.1148/radiol.2017160150.
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Boult, JKR;
Apps, JR;
Hölsken, A;
Hutchinson, JC;
Carreno, G;
Danielson, LS;
Smith, LM;
... Robinson, SP; + view all
(2017)
Preclinical transgenic and patient-derived xenograft models recapitulate the radiological features of human adamantinomatous craniopharyngioma.
Brain Pathology
10.1111/bpa.12525.
(In press).
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Brayson, D;
Shanahan, CM;
(2017)
Current insights into LMNA cardiomyopathies: Existing models and missing LINCs.
Nucleus
, 8
(1)
pp. 17-33.
10.1080/19491034.2016.1260798.
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Brown, KL;
Pagel, C;
Brimmell, R;
Bull, K;
Davis, P;
Franklin, RC;
Hoskote, A;
... Mclean, A; + view all
(2017)
Definition of important early morbidities related to paediatric cardiac surgery.
Cardiology in the Young
, 27
(4)
pp. 747-756.
10.1017/S1047951116001256.
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Buyse, GM;
Voit, T;
Schara, U;
Straathof, CSM;
D'Angelo, MG;
Bernert, G;
Cuisset, J-M;
... DELOS Study Group, .; + view all
(2017)
Treatment effect of idebenone on inspiratory function in patients with Duchenne muscular dystrophy.
Pediatric Pulmonology
, 52
(4)
pp. 508-515.
10.1002/ppul.23547.
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C
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Capsomidis, A;
Benthall, G;
Van Acker, HH;
Fisher, J;
Kramer, AM;
Abeln, Z;
Majani, Y;
... Anderson, J; + view all
(2017)
Chimeric Antigen Receptor-Engineered Human Gamma Delta T Cells: Enhanced Cytotoxicity with Retention of Cross Presentation.
Molecular Therapy
10.1016/j.ymthe.2017.12.001.
(In press).
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Centeno, M;
Tierney, TM;
Perani, S;
Shamshiri, EA;
StPier, K;
Wilkinson, C;
Konn, D;
... Carmichael, DW; + view all
(2017)
Combined EEG-fMRI and ESI improves localisation of paediatric focal epilepsy.
Annals of Neurology
, 82
(2)
pp. 278-287.
10.1002/ana.25003.
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Chan, S;
Pressler, R;
Boyd, SG;
Baldeweg, T;
Cross, JH;
(2017)
Does sleep benefit memory consolidation in children with focal epilepsy?
Epilepsia
, 58
(3)
pp. 456-466.
10.1111/epi.13668.
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Chan, Samantha Yuen-Sum;
(2017)
The contribution of sleep to cognitive function in children with epilepsy.
Doctoral thesis (Ph.D), UCL (University College London).
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Cooper, H;
(2017)
Neurodevelopment of children at risk of hearing and communication problems.
Doctoral thesis , UCL (University College London).
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Cornett, KM;
Menezes, MP;
Shy, RR;
Moroni, I;
Pagliano, E;
Pareyson, D;
Estilow, T;
... CMTPedS Study Group, .; + view all
(2017)
Natural history of Charcot-Marie-Tooth disease during childhood.
Annals of Neurology
, 82
(3)
pp. 353-359.
10.1002/ana.25009.
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Counsell, JR;
Asgarian, Z;
Meng, J;
Ferrer, V;
Vink, CA;
Howe, SJ;
Waddington, SN;
... Danos, O; + view all
(2017)
Lentiviral vectors can be used for full-length dystrophin gene therapy.
Scientific Reports
, 7
, Article 44775. 10.1038/srep44775.
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Cross, JH;
Auvin, S;
Falip, M;
Striano, P;
Arzimanoglou, A;
(2017)
Expert Opinion on the Management of Lennox-Gastaut Syndrome: Treatment Algorithms and Practical Consideration.
Frontiers in Neurology
, 8
, Article 505. 10.3389/fneur.2017.00505.
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Cross, JH;
Spoudeas, H;
(2017)
Medical management and antiepileptic drugs in hypothalamic hamartoma.
Epilepsia
, 58
(S2)
pp. 16-21.
10.1111/epi.13758.
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Cummings, BB;
Marshall, JL;
Tukiainen, T;
Lek, M;
Donkervoort, S;
Foley, AR;
Bolduc, V;
... MacArthur, DG; + view all
(2017)
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
Science Translational Medicine
, 9
(386)
10.1126/scitranslmed.aa15209.
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D
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Dabrowski, J;
King, J;
Edwards, K;
Yates, R;
Heyman, I;
Zimmerman-Brenner, S;
Murphy, T;
(2017)
The Long-Term Effects of Group-Based Psychological Interventions for Children With Tourette Syndrome: A Randomized Controlled Trial.
Behavior Therapy
10.1016/j.beth.2017.10.005.
(In press).
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Dale, N;
Sakkalou, E;
O'Reilly, M;
Springall, C;
De Haan, M;
Salt, A;
(2017)
Functional vision and cognition in infants with congenital disorders of the peripheral visual system.
Developmental Medicine and Child Neurology
, 59
(7)
pp. 725-731.
10.1111/dmcn.13429.
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Danti, FR;
Galosi, S;
Romani, M;
Montomoli, M;
Carss, KJ;
Raymond, FL;
Parrini, E;
... Guerrini, R; + view all
(2017)
GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.
Neurology Genetics
, 3
(2)
, Article e143. 10.1212/NXG.0000000000000143.
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Devinsky, O;
Cross, JH;
Laux, L;
Marsh, E;
Miller, I;
Nabbout, R;
Scheffer, IE;
... Wright, S; + view all
(2017)
Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome.
The New England Journal of Medicine
, 376
(21)
pp. 2011-2020.
10.1056/NEJMoa1611618.
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Dlamini, N;
Saunders, DE;
Bynevelt, M;
Trompeter, S;
Cox, TC;
Bucks, RS;
Kirkham, FJ;
(2017)
Nocturnal oxyhemoglobin desaturation and arteriopathy in a pediatric sickle cell disease cohort.
Neurology
, 89
(24)
10.1212/WNL.0000000000004728.
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Dowling, MM;
Quinn, CT;
Ramaciotti, C;
Kanter, J;
Osunkwo, I;
Inusa, B;
Iyer, R;
... PFAST Investigators, .; + view all
(2017)
Increased prevalence of potential right-to-left shunting in children with sickle cell anaemia and stroke.
British Journal of Haematology
, 176
(2)
pp. 300-308.
10.1111/bjh.14391.
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Downes, M;
Bathelt, J;
De Haan, M;
(2017)
Event-related potential measures of executive functioning from preschool to adolescence.
Developmental Medicine and Child Neurology
, 59
(6)
pp. 581-590.
10.1111/dmcn.13395.
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Downes, M;
De Haan, M;
Kirkham, FJ;
Telfer, PT;
(2017)
Parent reported sleep problems in preschool children with sickle cell anemia and controls in East London.
Pediatric Blood & Cancer
, 64
(6)
, Article e26337. 10.1002/pbc.26337.
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Dzieciol, AM;
Bachevalier, J;
Saleem, KS;
Gadian, DG;
Saunders, R;
Chong, WK;
Banks, T;
... Vargha-Khadem, F; + view all
(2017)
Hippocampal and diencephalic pathology in developmental amnesia.
Cortex
, 86
pp. 33-44.
10.1016/j.cortex.2016.09.016.
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E
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Edwards, HB;
Mallick, AA;
O'Callaghan, FJK;
(2017)
Immunotherapy for arterial ischaemic stroke in childhood: a systematic review.
Archives of Disease in Childhood
, 102
(5)
pp. 410-415.
10.1136/archdischild-2016-311034.
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Elliott, CL;
Arthurs, OJ;
Young, J;
(2017)
Current status of UK radiology trainee experience in post-mortem imaging: A questionnaire-based survey.
Journal of Forensic Radiology and Imaging
, 9
pp. 31-35.
10.1016/j.jofri.2017.03.005.
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F
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Finkel, RS;
Mercuri, E;
Darras, BT;
Connolly, AM;
Kuntz, NL;
Kirschner, J;
Chiriboga, CA;
... De Vivo, DC; + view all
(2017)
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy.
New England Journal of Medicine
, 377
(18)
pp. 1723-1732.
10.1056/NEJMoa1702752.
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Finlayson, NJ;
Papageorgiou, A;
Schwarzkopf, DS;
(2017)
A new method for mapping perceptual biases across visual space.
Journal of Vision
, 17
(9)
, Article 5. 10.1167/17.9.5.
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Fisher, RS;
Cross, JH;
D'Souza, C;
French, JA;
Haut, SR;
Higurashi, N;
Hirsch, E;
... Zuberi, SM; + view all
(2017)
Instruction manual for the ILAE 2017 operational classification of seizure types.
Epilepsia
, 58
(4)
pp. 531-542.
10.1111/epi.13671.
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Fisher, RS;
Cross, JH;
French, JA;
Higurashi, N;
Hirsch, E;
Jansen, FE;
Lagae, L;
... Zuberi, SM; + view all
(2017)
Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology.
Epilepsia
, 58
(4)
pp. 522-530.
10.1111/epi.13670.
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Fosi, T;
Werner, K;
Boyd, SG;
De Haan, M;
Scott, RC;
Neville, BG;
(2017)
Auditory processing following infantile spasms: An event-related potential study.
Epilepsia
, 58
(5)
pp. 872-881.
10.1111/epi.13725.
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G
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Galadanci, NA;
Abdullahi, SU;
Vance, LD;
Tabari, AM;
Ali, S;
Belonwu, R;
Salihu, A;
... DeBaun, MR; + view all
(2017)
Feasibility trial for primary stroke prevention in children with sickle cell anemia in Nigeria (SPIN trial).
American Journal of Hematology
, 92
(8)
pp. 780-788.
10.1002/ajh.24770.
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Galadanci, NA;
Abdullahi, SU;
Vance, LD;
Tabari, MA;
Abubakar, S;
Belonwu, R;
Salihu, A;
... DeBaun, MR; + view all
(2017)
Implementing a standard-of-care clinic for stroke prevention in children with sickle cell disease in Nigeria: a feasible strategy outside a clinical trial setting.
Blood Advances
, 1
pp. 23-25.
10.1182/bloodadvances.2017GS101266.
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H
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Hallak, LK;
Berger, K;
Kaspar, R;
Kwilas, AR;
Montanaro, F;
Peeples, ME;
(2017)
Efficient method for site-directed mutagenesis in large plasmids without subcloning.
PLoS One
, 12
(6)
, Article e0177788. 10.1371/journal.pone.0177788.
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Hamandi, K;
Beniczky, S;
Diehl, B;
Kandler, RH;
Pressler, RM;
Sen, A;
Solomon, J;
... ILAE British Chapter Workshop Attendees; + view all
(2017)
Current practice and recommendations in UK epilepsy monitoring units. Report of a national survey and workshop.
Seizure
, 50
pp. 92-98.
10.1016/j.seizure.2017.06.015.
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Handley, SE;
Vargha-Khadem, F;
Bowman, RJ;
Liasis, A;
(2017)
Visual Function Twenty Years After Childhood Hemispherectomy for Intractable Epilepsy.
American Journal of Ophthalmology
, 177
pp. 81-89.
10.1016/j.ajo.2017.02.014.
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Harden, C;
Tomson, T;
Gloss, D;
Buchhalter, J;
Cross, JH;
Donner, E;
French, JA;
... Ryvlin, P; + view all
(2017)
Practice guideline summary: Sudden unexpected death in epilepsy incidence rates and risk factors Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Epilepsy Society.
Neurology
, 88
(17)
pp. 1674-1680.
10.1212/WNL.0000000000003685.
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Harden, C;
Tomson, T;
Gloss, D;
Buchhalter, J;
Cross, JH;
Donner, E;
French, JA;
... Ryvlin, P; + view all
(2017)
Practice Guideline Summary: Sudden Unexpected Death in Epilepsy Incidence Rates and Risk Factors: Report of the Guideline Development, Dissemination, and Implementation Subcommittee of the American Academy of Neurology and the American Epilepsy Society.
Epilepsy Currents
, 17
(3)
pp. 180-187.
10.5698/1535-7511.17.3.180.
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Hendricks, AE;
Bochukova, EG;
Marenne, G;
Keogh, JM;
Atanassova, N;
Bounds, R;
Wheeler, E;
... Bhattacharyaa, S; + view all
(2017)
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.
Scientific Reports
, 7
(1)
, Article 4394. 10.1038/s41598-017-03054-8.
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Hikmat, O;
Tzoulis, C;
Chong, WK;
Chentouf, L;
Klingenberg, C;
Fratter, C;
Carr, LJ;
... Rahman, S; + view all
(2017)
The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations.
Genetics in Medicine
, 19
(11)
pp. 1217-1225.
10.1038/gim.2017.35.
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Hill, NE;
Murphy, KG;
Saeed, S;
Phadke, R;
Chambers, D;
Wilson, DR;
Brett, SJ;
(2017)
Impact of ghrelin on body composition and muscle function in a long-term rodent model of critical illness.
PLoS ONE
, 12
(8)
, Article e0182659. 10.1371/journal.pone.0182659.
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Hind, D;
Parkin, J;
Whitworth, V;
Rex, S;
Young, T;
Hampson, L;
Sheehan, J;
... Baxter, P; + view all
(2017)
Aquatic therapy for boys with Duchenne muscular dystrophy (DMD): an external pilot randomised controlled trial.
Pilot and Feasibility Studies
, 3
, Article 16. 10.1186/s40814-017-0132-0.
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Hind, D;
Parkin, J;
Whitworth, V;
Rex, S;
Young, T;
Hampson, L;
Sheehan, J;
... Baxter, P; + view all
(2017)
Aquatic therapy for children with Duchenne muscular dystrophy: a pilot feasibility randomised controlled trial and mixed-methods process evaluation.
Health Technology Assessment
, 21
(27)
10.3310/hta21270.
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Hogarth, P;
Kurian, MA;
Gregory, A;
Csányi, B;
Zagustin, T;
Kmiec, T;
Wood, P;
... Hayflick, SJ; + view all
(2017)
Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN).
Mol Genet Metab
, 120
(3)
pp. 278-287.
10.1016/j.ymgme.2016.11.004.
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Hutchinson, JC;
Ashworth, MT;
Sebire, NJ;
Arthurs, OJ;
(2017)
Multiple Cardiac Rhabdomyomas Visualised Using Micro-CT in a Case of Tuberous Sclerosis.
Fetal Diagnosis and Therapy
, 41
(2)
10.1159/000448708.
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Hutchinson, JC;
Shelmerdine, SC;
Simcock, IC;
Sebire, NJ;
Arthurs, OJ;
(2017)
Early clinical applications for imaging at microscopic detail: microfocus computed tomography (micro-CT).
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