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Number of items: 239.
Article
Absalom, NL;
Liao, VWY;
Kothur, K;
Indurthi, DC;
Bennetts, B;
Troedson, C;
Mohammad, SS;
... Chebib, M; + view all
(2020)
Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies.
Brain Communications
, 2
(2)
fcaa162.
10.1093/braincomms/fcaa162.
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Aguti, S;
Bolduc, V;
Ala, P;
Turmaine, M;
Bönnemann, CG;
Muntoni, F;
Zhou, H;
(2020)
Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD.
Molecular Therapy - Nucleic Acids
, 21
pp. 205-216.
10.1016/j.omtn.2020.05.029.
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Alvarez, I;
Smittenaar, R;
Handley, SE;
Liasis, A;
Sereno, MI;
Schwarzkopf, DS;
Clark, CA;
(2020)
Altered visual population receptive fields in human albinism.
Cortex
, 128
pp. 107-123.
10.1016/j.cortex.2020.03.016.
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Arthurs, OJ;
Goh, V;
Hoggard, N;
Booth, T;
Messiou, C;
Teh, J;
Plumb, A;
... Hall-Craggs, M; + view all
(2020)
Professional development and research are being neglected: a commentary on the 2019 RCR radiologists' supporting professional activities (SPA) survey.
Clinical Radiology
, 75
(5)
pp. 348-350.
10.1016/j.crad.2020.03.001.
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Arzimanoglou, A;
Brandl, U;
Cross, JH;
Gil-Nagel, A;
Lagae, L;
Landmark, CJ;
Specchio, N;
... The Cannabinoids International Experts Panel, .; + view all
(2020)
Epilepsy and cannabidiol: a guide to treatment.
Epileptic Disorders
, 22
(1)
pp. 1-14.
10.1684/epd.2020.1141.
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Asadi-Pooya, AA;
Cross, JH;
(2020)
Is wearing a face mask safe for people with epilepsy?
Acta Neurologica Scandinavica
, 142
(4)
pp. 314-316.
10.1111/ane.13316.
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Balestrini, S;
Mikati, MA;
Garcia-Roves, RA;
Carboni, M;
Hunanyan, AS;
Kherallah, B;
McLean, M;
... Sisodiya, SM; + view all
(2020)
Cardiac phenotype in ATP1A3-related syndromes: A multicentre cohort study.
Neurology
, 95
(21)
e2866-e2879.
10.1212/wnl.0000000000010794.
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Baranello, G;
De Amicis, R;
Arnoldi, MT;
Zanin, R;
Mastella, C;
Masson, R;
Leone, A;
... Bertoli, S; + view all
(2020)
Evaluation of body composition as a potential biomarker in spinal muscular atrophy.
Muscle & Nerve
10.1002/mus.26823.
(In press).
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Baranello, G;
Signorini, S;
Tinelli, F;
Guzzetta, A;
Pagliano, E;
Rossi, A;
Foscan, M;
... On Behalf of the VFCS Study Group, .; + view all
(2020)
Visual Function Classification System for children with cerebral palsy: development and validation.
Developmental Medicine and Child Neurology
, 62
(1)
pp. 104-110.
10.1111/dmcn.14270.
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Barba, C;
Cross, JH;
Braun, K;
Cossu, M;
Klotz, KA;
De Masi, S;
Perez Jimenez, MA;
... Lucenteforte, E; + view all
(2020)
Trends in pediatric epilepsy surgery in Europe between 2008 and 2015: Country‐, center‐, and age‐specific variation.
Epilepsia
, 61
(2)
pp. 216-227.
10.1111/epi.16414.
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Baumgartner, T;
Carreño, M;
Rocamora, R;
Bisulli, F;
Boni, A;
Brázdil, M;
Horak, O;
... Sadowski, K; + view all
(2020)
A survey of the European Reference Network EpiCARE on clinical practice for selected rare epilepsies.
Epilepsia Open
10.1002/epi4.12459.
(In press).
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Bello, L;
D'Angelo, G;
Villa, M;
Fusto, A;
Vianello, S;
Merlo, B;
Sabbatini, D;
... Pegoraro, E; + view all
(2020)
Genetic modifiers of respiratory function in Duchenne muscular dystrophy.
Annals of Clinical and Translational Neurology
, 7
(5)
pp. 786-798.
10.1002/acn3.51046.
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Beniczky, S;
Aurlien, H;
Franceschetti, S;
Martins da Silva, A;
Bisulli, F;
Bentes, C;
Canafoglia, L;
... Arzimanoglou, A; + view all
(2020)
Interrater agreement on classification of photoparoxysmal electroencephalographic response.
Epilepsia
, 61
(9)
e124-e128.
10.1111/epi.16655.
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Bennett, KH;
Pujar, SS;
Martinos, MM;
Clark, CA;
Yoong, M;
Scott, RC;
Chin, RFM;
(2020)
Subcortical nuclei volumes are associated with cognition in children post-convulsive status epilepticus: Results at nine years follow-up.
Epilepsy & Behavior
, 110
, Article 107119. 10.1016/j.yebeh.2020.107119.
(In press).
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Birkeland, P;
Tharmabalan, V;
Lauritsen, J;
Ganesan, V;
Bjarkam, CR;
von Weitzel-Mudersbach, P;
(2020)
Moyamoya disease in a European setting: a Danish population-based study.
European Journal of Neurology
, 27
(12)
pp. 2446-2452.
10.1111/ene.14439.
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Bis-Brewer, DM;
Gan-Or, Z;
Sleiman, P;
Rodriguez, A;
Bacha, A;
Kosikowski, A;
Wood, B;
... Züchner, S; + view all
(2020)
Assessing non-Mendelian inheritance in inherited axonopathies.
Genetics in Medicine
, 22
pp. 2114-2119.
10.1038/s41436-020-0924-0.
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Bisello, G;
Longo, C;
Rossignoli, G;
Phillips, RS;
Bertoldi, M;
(2020)
Oxygen reactivity with pyridoxal 5'-phosphate enzymes: biochemical implications and functional relevance.
Amino Acids
10.1007/s00726-020-02885-6.
(In press).
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Bonanno, S;
Marcuzzo, S;
Malacarne, C;
Giagnorio, E;
Masson, R;
Zanin, R;
Arnoldi, MT;
... Maggi, L; + view all
(2020)
Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA Patients.
Biomedicines
, 8
(2)
, Article 21. 10.3390/biomedicines8020021.
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Boonzaier, NR;
Hales, PW;
D'Arco, F;
Walters, BC;
Kaur, R;
Mankad, K;
Cooper, J;
... Clark, CA; + view all
(2020)
Quantitative MRI demonstrates abnormalities of the third ventricle subventricular zone in neurofibromatosis type-1 and sporadic paediatric optic pathway glioma.
NeuroImage: Clinical
, 28
, Article 102447. 10.1016/j.nicl.2020.102447.
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Brayson, D;
Holohan, S;
Bardswell, SC;
Arno, M;
Lu, H;
Jensen, HK;
Tran, PK;
... Kentish, JC; + view all
(2020)
Right Ventricle Has Normal Myofilament Function But Shows Perturbations in the Expression of Extracellular Matrix Genes in Patients With Tetralogy of Fallot Undergoing Pulmonary Valve Replacement.
Journal of the American Heart Association
, 9
(16)
10.1161/jaha.119.015342.
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Brennan, LC;
Kirkham, FJ;
Gavlak, JC;
(2020)
Sleep-disordered breathing and comorbidities: Role of the upper airway and craniofacial skeleton.
Nature and Science of Sleep
, 12
pp. 907-936.
10.2147/NSS.S146608.
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Brown, SC;
Fernandez-Fuente, M;
Muntoni, F;
Vissing, J;
(2020)
Phenotypic Spectrum of α-Dystroglycanopathies Associated With the c.919T>a Variant in the FKRP Gene in Humans and Mice.
Journal of Neuropathology & Experimental Neurology
, 79
(12)
pp. 1257-1264.
10.1093/jnen/nlaa120.
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Brown, KL;
Pagel, C;
Ridout, D;
Wray, J;
Tsang, VT;
Anderson, D;
Banks, V;
... Witter, T; + view all
(2020)
Early morbidities following paediatric cardiac surgery: a mixed-methods study.
Health Services and Delivery Research
, 8
(30)
pp. 1-192.
10.3310/hsdr08300.
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Buck, S;
Bastos, F;
Baldeweg, T;
Vargha-Khadem, F;
(2020)
A Functional MRI Paradigm Suitable for Language and Memory Mapping in Pediatric Temporal Lobe Epilepsy.
Frontiers in Neurology
, 10
, Article 1384. 10.3389/fneur.2019.01384.
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Buck, S;
Bastos, F;
Baldeweg, T;
Vargha-Khadem, F;
(2020)
The Pair Test: A computerised measure of learning and memory.
Behavior Research Methods
10.3758/s13428-020-01470-9.
(In press).
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Campbell, C;
Barohn, RJ;
Bertini, E;
Chabrol, B;
Comi, GP;
Darras, BT;
Finkel, RS;
... Clinical Evaluator Training Groups, .; + view all
(2020)
Meta-analyses of ataluren randomized controlled trials in nonsense mutation Duchenne muscular dystrophy.
Journal of Comparative Effectiveness Research
, 9
(14)
10.2217/cer-2020-0095.
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Capitanio, D;
Moriggi, M;
Torretta, E;
Barbacini, P;
De Palma, S;
Vigano, A;
Lochmueller, H;
... Gelfi, C; + view all
(2020)
Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients.
Journal of Cachexia, Sarcopenia and Muscle
10.1002/jcsm.12527.
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Carminho-Rodrigues, MT;
Steel, D;
Sousa, SB;
Brandt, G;
Guipponi, M;
Laurent, S;
Fokstuen, S;
... Bally, JF; + view all
(2020)
Complex movement disorder in a patient with heterozygous YY1 mutation (Gabriele‐de Vries syndrome).
American Journal of Medical Genetics Part A
, 182
(9)
pp. 2129-2132.
10.1002/ajmg.a.61731.
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Carneiro, MIS;
Russo, C;
Masson, R;
Rossi Sebastiano, D;
Baranello, G;
Turati, C;
Bolognini, N;
(2020)
Motor learning in unilateral cerebral palsy and the influence of corticospinal tract reorganization.
European Journal of Paediatric Neurology
, 27
pp. 49-59.
10.1016/j.ejpn.2020.04.013.
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Cermakova, P;
Pikhart, H;
Ruiz, M;
Kubinova, R;
Bobak, M;
(2020)
Socioeconomic position in childhood and depressive symptoms in later adulthood in the Czech Republic.
Journal of Affective Disorders
, 272
pp. 17-23.
10.1016/j.jad.2020.03.099.
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Chan, YS;
(2020)
Sleep architecture and homeostasis in children with epilepsy: a neurodevelopmental perspective.
Developmental Medicine and Child Neurology
, 62
(4)
pp. 426-433.
10.1111/dmcn.14437.
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Charalambous, T;
Clayden, JD;
Powell, E;
Prados, F;
Tur, C;
Kanber, B;
Chard, D;
... Toosy, AT; + view all
(2020)
Disrupted principal network organisation in multiple sclerosis relates to disability.
Scientific Reports
, 10
, Article 3620. 10.1038/s41598-020-60611-4.
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Chari, A;
Thornton, RC;
Tisdall, MM;
Scott, RC;
(2020)
Microelectrode recordings in human epilepsy: a case for clinical translation.
Brain Communications
, 2
(2)
, Article fcaa082. 10.1093/braincomms/fcaa082.
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Chari, A;
Tisdall, MM;
Marcus, HJ;
(2020)
Letter to the Editor. Systematic and safe approaches to innovation in pediatric pinning.
Journal of Neurosurgery: Pediatrics
, 26
(5)
pp. 601-602.
10.3171/2020.5.PEDS20375.
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Choudhury, P;
Spaull, R;
Amin, S;
Mallick, AA;
Patel, JS;
O'Callaghan, F;
Lux, AL;
(2020)
Prophylactic Antiepileptic Treatment in Tuberous Sclerosis.
Pediatric Neurology
, 110
pp. 100-101.
10.1016/j.pediatrneurol.2020.03.017.
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Cif, L;
Demailly, D;
Lin, J-P;
Barwick, KE;
Sa, M;
Abela, L;
Malhotra, S;
... Kurian, MA; + view all
(2020)
KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Brain
, 143
(11)
pp. 3242-3261.
10.1093/brain/awaa304.
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Coratti, G;
Messina, S;
Lucibello, S;
Pera, MC;
Montes, J;
Pasternak, A;
Stat, FB;
... Mercuri, E; + view all
(2020)
Clinical variability in spinal muscular atrophy type III.
Annals of Neurology
, 88
(6)
pp. 1109-117.
10.1002/ana.25900.
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Coratti, G;
Lucibello, S;
Pera, MC;
Duong, T;
Muni Lofra, R;
Civitello, M;
D'Amico, A;
... ISMAC group; + view all
(2020)
Gain and loss of abilities in type II SMA: A 12-month natural history study.
Neuromuscular Disorders
, 30
(9)
pp. 765-771.
10.1016/j.nmd.2020.07.004.
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Coratti, G;
Pera, MC;
Lucibello, S;
Montes, J;
Pasternak, A;
Mayhew, A;
Glanzman, AM;
... Mercuri, E; + view all
(2020)
Age and baseline values predict 12 and 24-month functional changes in type 2 SMA.
Neuromuscular Disorders
, 30
(9)
pp. 756-764.
10.1016/j.nmd.2020.07.005.
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Cornett, KMD;
Menezes, MP;
Bray, P;
Shy, RR;
Moroni, I;
Pagliano, E;
Pareyson, D;
... CMTPedS Study Group, .; + view all
(2020)
Refining clinical trial inclusion criteria to optimize the standardized response mean of the CMTPedS.
Annals of Clinical and Translational Neurology
, 7
(9)
pp. 1713-1715.
10.1002/acn3.51145.
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Cortese, A;
Zhu, Y;
Rebelo, AP;
Negri, S;
Courel, S;
Abreu, L;
Bacon, CJ;
... Zuchner, S; + view all
(2020)
Author Correction: Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Nature Genetics
, 52
, Article 640. 10.1038/s41588-020-0649-7.
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Cortese, A;
Zhu, Y;
Rebelo, AP;
Negri, S;
Courel, S;
Abreu, L;
Bacon, CJ;
... Zuchner, S; + view all
(2020)
Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes.
Nature Genetics
, 52
pp. 473-481.
10.1038/s41588-020-0615-4.
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Cox, SE;
Hart, E;
Kirkham, FJ;
Stotesbury, H;
(2020)
L-Glutamine in sickle cell disease.
Drugs of Today
, 56
(4)
pp. 257-268.
10.1358/dot.2020.56.4.3110575.
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Crosby, LE;
Hood, A;
Kidwell, K;
Nwankwo, C;
Peugh, J;
Strong, H;
Quinn, C;
(2020)
Improving self-management in adolescents with sickle cell disease.
Pediatric Blood & Cancer
, 67
(10)
, Article e28492. 10.1002/pbc.28492.
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Cross, JH;
(2020)
Genetics in the epilepsies – A broadening concept.
European Journal of Paediatric Neurology
, 24
p. 8.
10.1016/j.ejpn.2020.01.009.
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Cross, JH;
Cock, H;
(2020)
A perspective on cannabinoids for treating epilepsy: Do they really change the landscape?
Neuropharmacology
, 170
, Article 107861. 10.1016/j.neuropharm.2019.107861.
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Cross, JH;
Lagae, L;
(2020)
The concept of disease modification.
European Journal of Paediatric Neurology
, 24
pp. 43-46.
10.1016/j.ejpn.2019.12.005.
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Davendralingam, N;
Sebire, NJ;
Arthurs, OJ;
Shelmerdine, SC;
(2020)
Artificial intelligence in paediatric radiology: Future opportunities.
The British Journal of Radiology
, 94
(1117)
, Article 20200975. 10.1259/bjr.20200975.
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de Boer, A;
Villa, G;
Bane, O;
Bock, M;
Cox, EF;
Dekkers, IA;
Eckerbom, P;
... Caroli, A; + view all
(2020)
Consensus-Based Technical Recommendations for Clinical Translation of Renal Phase Contrast MRI.
Journal of Magnetic Resonance Imaging
, 55
(2)
pp. 323-335.
10.1002/jmri.27419.
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de Vries, PJ;
Belousova, E;
Benedik, MP;
Carter, T;
Cottin, V;
Curatolo, P;
D'Amato, L;
... TOSCA Consortium and TOSCA Investigators, .; + view all
(2020)
Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project.
Journal of Neurodevelopmental Disorders
, 12
(1)
, Article 24. 10.1186/s11689-020-09327-0.
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de Vries, PJ;
Belousova, E;
Benedik, MP;
Carter, T;
Cottin, V;
Curatolo, P;
Dahlin, M;
... Jansen, AC; + view all
(2020)
Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype.
Frontiers in Neurology
, 11
, Article 603. 10.3389/fneur.2020.00603.
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DeBaun, MR;
Jordan, LC;
King, AA;
Schatz, J;
Vichinsky, E;
Fox, CK;
McKinstry, RC;
... Murad, MH; + view all
(2020)
American Society of Hematology 2020 guidelines for sickle cell disease: prevention, diagnosis, and treatment of cerebrovascular disease in children and adults.
Blood Advances
, 4
(8)
pp. 1554-1588.
10.1182/bloodadvances.2019001142.
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Dlamini, N;
Pohl, K;
Eley, B;
Van Toorn, R;
Kilborn, T;
Padayachee, S;
Pontigon, A-M;
... Wilmshurst, J; + view all
(2020)
Stroke transcranial Doppler in children with human immunodeficiency virus.
Developmental Medicine & Child Neurology
, 62
(6)
pp. 735-741.
10.1111/dmcn.14439.
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Dlamini, N;
Slim, M;
Kirkham, F;
Shroff, M;
Dirks, P;
Moharir, M;
MacGregor, D;
... Logan, W; + view all
(2020)
Predicting Ischemic Risk Using Blood Oxygen Level–Dependent MRI in Children with Moyamoya.
American Journal of Neuroradiology
, 41
(1)
pp. 160-166.
10.3174/ajnr.A6324.
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Doreste, B;
Torelli, S;
Morgan, J;
(2020)
Irradiation dependent inflammatory response may enhance satellite cell engraftment.
Scientific Reports
, 10
, Article 11119. 10.1038/s41598-020-68098-9.
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Durrant, C;
Wong, HS;
Cole, TJ;
Hutchon, B;
Collier, L;
Wright, A;
George, C;
... Huertas Ceballos, A; + view all
(2020)
Developmental trajectories of infants born at less than 30 weeks' gestation on the Bayley-III Scales.
Archives of Disease in Childhood. Fetal and Neonatal Edition
, 105
(6)
pp. 623-627.
10.1136/archdischild-2019-317810.
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Fan, H;
Gilbert, R;
O'Callaghan, F;
Li, L;
(2020)
Associations between macrolide antibiotics prescribing during pregnancy and adverse child outcomes in the UK: population based cohort study.
BMJ
, 368
, Article m331. 10.1136/bmj.m331.
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Felling, RJ;
Rafay, MF;
Bernard, TJ;
Carpenter, JL;
Dlamini, N;
Hassanein, SMA;
Jordan, LC;
... International Pediatric Stroke Study Group; + view all
(2020)
Predicting Recovery and Outcome after Pediatric Stroke: Results from the International Pediatric Stroke Study.
Annals of Neurology
, 87
(6)
pp. 840-852.
10.1002/ana.25718.
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Ferrari, G;
Muntoni, F;
Tedesco, FS;
(2020)
Generation of two genomic-integration-free DMD iPSC lines with mutations affecting all dystrophin isoforms and potentially amenable to exon-skipping.
Stem Cell Research
, 43
, Article 101688. 10.1016/j.scr.2019.101688.
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Filippi, R;
Ceccolini, A;
Periche-Tomas, E;
Papageorgiou, A;
Bright, P;
(2020)
Developmental trajectories of control of verbal and non-verbal interference in speech comprehension in monolingual and multilingual children.
Cognition
, 200
, Article 104252. 10.1016/j.cognition.2020.104252.
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Filippi, R;
Periche Tomas, E;
Papageorgiou, A;
Bright, P;
(2020)
A role for the cerebellum in the control of verbal interference: Comparison of bilingual and monolingual adults.
PLOS ONE
, 15
(4)
, Article e0231288. 10.1371/journal.pone.0231288.
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Foley, AR;
Zou, Y;
Dunford, JE;
Rooney, J;
Chandra, G;
Xiong, H;
Straub, V;
... Bonnemann, CG; + view all
(2020)
GGPS1Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome.
Annals of Neurology
10.1002/ana.25772.
(In press).
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Frank, DE;
Schnell, FJ;
Akana, C;
El-Husayni, SH;
Desjardins, CA;
Morgan, J;
Charleston, JS;
... SKIP-NMD Study Group; + view all
(2020)
Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy.
Neurology
10.1212/WNL.0000000000009233.
(In press).
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French, JA;
Brodie, MJ;
Caraballo, R;
Devinsky, O;
Ding, D;
Jehi, L;
Jette, N;
... Cross, JH; + view all
(2020)
Keeping people with epilepsy safe during the Covid-19 pandemic.
Neurology
, 94
(23)
pp. 1032-1037.
10.1212/WNL.0000000000009632.
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Fridman, V;
Sillau, S;
Acsadi, G;
Bacon, C;
Dooley, K;
Burns, J;
Day, J;
... Shy, ME; + view all
(2020)
A longitudinal study of CMT1A using Rasch analysis based CMT neuropathy and examination scores.
Neurology
, 94
(9)
E884-E896.
10.1212/WNL.0000000000009035.
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Gaillard, WD;
Jette, N;
Arnold, ST;
Arzimanoglou, A;
Braun, KPJ;
Cukiert, A;
Dick, A;
... Jayakar, P; + view all
(2020)
Establishing criteria for pediatric epilepsy surgery center levels of care: Report from the ILAE Pediatric Epilepsy Surgery Task Force.
Epilepsia
, 61
(12)
pp. 2629-2642.
10.1111/epi.16698.
|
|
Galadanci, NA;
Abdullahi, SU;
Abubakar, SA;
Wudil, BJ;
Aminu, H;
Tijjani, A;
Abba, MS;
... DeBaun, MR; + view all
(2020)
Moderate-Dose Hydroxyurea for Primary Prevention of Strokes in Nigerian Children with Sickle Cell Disease: Final Results of the SPIN Trial.
American Journal of Hematology
, 95
(9)
E247-E250.
10.1002/ajh.25900.
|
|
Geva, S;
Jentschke, S;
Argyropoulos, GPD;
Chong, WK;
Gadian, DG;
Vargha-Khadem, F;
(2020)
Volume reduction of caudate nucleus is associated with movement coordination deficits in patients with hippocampal atrophy due to perinatal hypoxia-ischaemia.
NeuroImage: Clinical
, 28
, Article 102429. 10.1016/j.nicl.2020.102429.
|
|
|
Ghelani, R;
Lim, C;
Brain, C;
Fewtrell, M;
Butler, G;
(2020)
Sudden sex hormone withdrawal and the effects on body composition in late pubertal adolescents with gender dysphoria.
Journal of Pediatric Endocrinology and Metabolism
, 33
(1)
pp. 107-112.
10.1515/jpem-2019-0045.
|
|
Goeggel Simonetti, B;
Rafay, MF;
Chung, M;
Lo, WD;
Beslow, LA;
Billinghurst, LL;
Fox, CK;
... IPSS Study Group; + view all
(2020)
Comparative study of posterior and anterior circulation stroke in childhood: Results from the International Pediatric Stroke Study.
Neurology
, 94
(4)
e337-e344.
10.1212/WNL.0000000000008837.
|
|
Goksan, S;
Argyri, F;
Clayden, JD;
Liegeois, F;
Wei, L;
(2020)
Early childhood bilingualism: effects on brain structure and function [version 1; peer review: 2 approved].
F1000Research
, 9
, Article 370. 10.12688/f1000research.23216.1.
|
|
Goksan, S;
Argyri, F;
Clayden, JD;
Liegeois, F;
Wei, L;
(2020)
Early childhood bilingualism: effects on brain structure and function [version 2; peer review: 2 approved].
F1000Research
, 9
, Article 370. 10.12688/f1000research.23216.2.
|
|
|
Greenfield, K;
Holley, S;
Schoth, DE;
Harrop, E;
Howard, RF;
Bayliss, J;
Brook, L;
... Liossi, C; + view all
(2020)
A mixed-methods systematic review and meta-analysis of barriers and facilitators to paediatric symptom management at end of life.
Palliative Medicine
, 34
(6)
pp. 689-707.
10.1177/0269216320907065.
|
|
Greenfield, K;
Holley, S;
Schoth, DE;
Bayliss, J;
Anderson, A-K;
Jassal, S;
Rajapakse, D;
... Liossi, C; + view all
(2020)
A protocol for a systematic review and meta-analysis to identify measures of breakthrough pain and evaluate their psychometric properties.
BMJ Open
, 10
(3)
, Article e035541. 10.1136/bmjopen-2019-035541.
|
|
|
Hales, PW;
Pfeuffer, J;
A. Clark, C;
(2020)
Combined Denoising and Suppression of Transient Artifacts in Arterial Spin Labeling MRI Using Deep Learning.
Journal of Magnetic Resonance Imaging
10.1002/jmri.27255.
|
|
|
Hall, CL;
Sanderson, C;
Brown, BJ;
Andren, P;
Bennett, S;
Chamberlain, LR;
Davies, EB;
... Murray, E; + view all
(2020)
Opportunities and challenges of delivering digital clinical trials: lessons learned from a randomised controlled trial of an online behavioural intervention for children and young people.
Trials
, 21
, Article 1011. 10.1186/s13063-020-04902-1.
|
|
Hands, S;
Verriotis, M;
Mustapha, A;
Ragab, H;
Hands, C;
(2020)
Nurse-led implementation of ETAT plus is associated with reduced mortality in a children's hospital in Freetown, Sierra Leone.
Paediatrics and International Child Health
, 40
(3)
pp. 186-193.
10.1080/20469047.2020.1713610.
|
|
Hartley, C;
Farmer, S;
Berthouze, L;
(2020)
Temporal ordering of input modulates connectivity formation in a developmental neuronal network model of the cortex.
PLoS One
, 15
(1)
, Article e0226772. 10.1371/journal.pone.0226772.
|
|
|
Hendriksen, JGM;
Thangarajh, M;
Kan, HE;
Muntoni, F;
ENMC 249th workshop study group;
(2020)
249th ENMC International Workshop: The role of brain dystrophin in muscular dystrophy: Implications for clinical care and translational research, Hoofddorp, The Netherlands, November 29th-December 1st 2019.
Neuromuscular Disorders
, 30
(9)
pp. 782-794.
10.1016/j.nmd.2020.08.357.
|
|
Hildebrand, MS;
Jackson, VE;
Scerri, TS;
Van Reyk, O;
Coleman, M;
Braden, RO;
Turner, S;
... Morgan, AT; + view all
(2020)
Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation.
Neurology
, 94
(20)
e2148-e2167.
10.1212/WNL.0000000000009441.
|
|
Hill, CS;
Borg, A;
Tahir, MZ;
Thompson, DNP;
(2020)
Atlantoaxial rotatory fixation in childhood: a staged management strategy incorporating manipulation under anaesthesia.
Child's Nervous System
10.1007/s00381-020-04727-y.
(In press).
|
|
|
Hong, Y;
Keylock, A;
Jensen, B;
Jacques, TS;
Ogunbiyi, O;
Omoyinmi, E;
Saunders, D;
... Eleftheriou, D; + view all
(2020)
Cerebral arteriopathy associated with heterozygous variants in the casitas B-lineage lymphoma gene.
Neurology Genetics
, 6
(4)
, Article e448. 10.1212/NXG.0000000000000448.
|
|
|
Hood, AM;
Crosby, LE;
Hanson, E;
Shook, LM;
Lebensburger, JD;
Madan-Swain, A;
Miller, MM;
(2020)
The influence of perceived racial bias and health-related stigma on quality of life among children with sickle cell disease.
Ethnicity & Health
10.1080/13557858.2020.1817340.
(In press).
|
|
Hood, AM;
Strong, H;
Nwankwo, C;
Johnson, Y;
Mara, CA;
Shook, LM;
Brinkman, W;
... Crosby, LE; + view all
(2020)
Addressing Recruitment Challenges in the Engage-HU Trial in Young Children with Sickle Cell Disease.
Blood
, 136
(Sup 1)
pp. 26-27.
10.1182/blood-2020-141471.
|
|
Hood, AM;
Quinn, CT;
King, CD;
Shook, LM;
Peugh, JL;
Crosby, LE;
(2020)
Vitamin D Supplementation and Pain-Related Emergency Department Visits in Children with Sickle Cell Disease.
Complementary Therapies in Medicine
, 49
, Article 102342. 10.1016/j.ctim.2020.102342.
|
|
Hood, AM;
Reife, I;
King, AA;
White, DA;
(2020)
Brief Screening Measures Identify Risk for Psychological Difficulties Among Children with Sickle Cell Disease.
Journal of Clinical Psychology in Medical Settings
, 27
pp. 651-661.
10.1007/s10880-019-09654-y.
|
|
Hoskote, A;
Ridout, D;
Banks, V;
Kakat, S;
Lakhanpaul, M;
Pagel, C;
Franklin, RC;
... Brown, K; + view all
(2020)
Neurodevelopmental status and follow-up in preschool children with heart disease in London, UK.
Archives of Disease in Childhood
10.1136/archdischild-2019-317824.
(In press).
|
|
|
Hoskote, A;
Wray, J;
Banks, V;
Brown, K;
Lakhanpaul, M;
(2020)
A referral pathway for potentially abnormal neurodevelopment in children with heart disease in the United Kingdom: A Delphi consensus.
BMJ Paediatrics Open
, 4
(1)
, Article e000587. 10.1136/bmjpo-2019-000587.
|
|
|
Howard, RF;
Radic, T;
Sohns, M;
Eerdekens, M;
Waßmuth, A;
(2020)
Tapentadol Prolonged Release for Long-Term Treatment of Pain in Children.
Journal of Pain Research
, 13
pp. 3157-3170.
10.2147/JPR.S272751.
|
|
|
Hutchinson, PJ;
Edlmann, E;
Bulters, D;
Zolnourian, A;
Holton, P;
Suttner, N;
Agyemang, K;
... Dex-CSDH Trial Collaborators, .; + view all
(2020)
Trial of Dexamethasone for Chronic Subdural Hematoma.
The New England Journal of Medicine
, 383
(27)
pp. 2616-2627.
10.1056/NEJMoa2020473.
|
|
Jacob, M;
Stotesbury, H;
Kawadler, JM;
Lapadaire, W;
Saunders, DE;
Sangeda, RZ;
Chamba, C;
... Clark, CA; + view all
(2020)
White Matter Integrity in Tanzanian Children With Sickle Cell Anemia: A Diffusion Tensor Imaging Study.
Stroke
10.1161/STROKEAHA.119.027097.
(In press).
|
|
|
Jansen, AC;
Vanclooster, S;
de Vries, PJ;
Fladrowski, C;
Beaure d'Augères, G;
Carter, T;
Belousova, E;
... Roelens, F; + view all
(2020)
Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study.
Frontiers in Neurology
, 11
10.3389/fneur.2020.00904.
|
|
|
Johnson, EC;
Helen Cross, J;
Reilly, C;
(2020)
Physical activity in people with epilepsy: A systematic review.
Epilepsia
, 61
(6)
pp. 1062-1081.
10.1111/epi.16517.
|
|
Joubert, R;
Mariot, V;
Charpentier, M;
Concordet, JP;
Dumonceaux, J;
(2020)
Gene Editing Targeting the DUX4 Polyadenylation Signal: A Therapy for FSHD?
Journal of Personalized Medicine
, 11
(1)
, Article 7. 10.3390/jpm11010007.
|
|
|
Joubert, R;
Mariot, V;
Dumonceaux, J;
(2020)
A one-hour universal protocol for mouse genotyping.
Muscle and Nerve
, 61
(6)
pp. 801-807.
10.1002/mus.26841.
|
|
Jung, J;
Tailor, J;
Dalton, E;
Glancz, LJ;
Roach, J;
Zakaria, R;
Lammy, S;
... British National Trainee Research Collaborative (BNTRC); + view all
(2020)
Management evaluation of metastasis in the brain (MEMBRAIN)—a United Kingdom and Ireland prospective, multicenter observational study.
Neuro-Oncology Practice
, 7
(3)
pp. 344-355.
10.1093/nop/npz063.
|
|
Kaden, E;
Gyori, NG;
Rudrapatna, SU;
Barskaya, IY;
Dragonu, I;
Does, MD;
Jones, DK;
... Alexander, DC; + view all
(2020)
Microscopic susceptibility anisotropy imaging.
Magnetic Resonance in Medicine
10.1002/mrm.28303.
(In press).
|
|
|
Kappen, P;
Eltze, C;
Tisdall, M;
Cross, JH;
Thornton, R;
Moeller, F;
(2020)
Stereo-EEG exploration in the insula/operculum in paediatric patients with refractory epilepsy.
Seizure
, 78
pp. 63-70.
10.1016/j.seizure.2020.02.011.
|
|
Katus, L;
Mason, L;
Milosavljevic, B;
McCann, S;
Rozhko, M;
Moore, SE;
Elwell, CE;
... BRIGHT project team; + view all
(2020)
ERP markers are associated with neurodevelopmental outcomes in 1–5 month old infants in rural Africa and the UK.
NeuroImage
, 210
, Article 116591. 10.1016/j.neuroimage.2020.116591.
|
|
|
Kerkelä, Leevi;
Nery, Fabio;
Hall, Matt;
Clark, Chris;
(2020)
Disimpy: A massively parallel Monte Carlo simulator for generating diffusion-weighted MRI data in Python.
Journal of Open Source Software
, 5
(52)
, Article 2527. 10.21105/joss.02527.
|
|
Kerkelä, L;
Henriques, RN;
Hall, MG;
Clark, CA;
Shemesh, N;
(2020)
Validation and noise robustness assessment of microscopic anisotropy estimation with clinically feasible double diffusion encoding MRI.
Magnetic Resonance in Medicine
, 83
(5)
pp. 1698-1710.
10.1002/mrm.28048.
|
|
|
Khan, DZ;
Bandyopadhyay, S;
Patel, V;
Schroeder, BE;
Cabrilo, I;
Choi, D;
Cudlip, SA;
... Williams, A; + view all
(2020)
CSF rhinorrhoea after endonasal intervention to the anterior skull base (CRANIAL): proposal for a prospective multicentre observational cohort study.
British Journal of Neurosurgery
10.1080/02688697.2020.1795622.
(In press).
|
|
|
Khan, K;
Hollis, C;
Hall, CL;
Davies, EB;
Mataix-Cols, D;
Andrén, P;
Murphy, T;
... Glazebrook, C; + view all
(2020)
Protocol for the Process Evaluation of the Online Remote Behavioural Intervention for Tics (ORBIT) randomized controlled trial for children and young people.
Trials
, 21
(1)
, Article 6. 10.1186/s13063-019-3974-3.
|
|
|
Kingswood, JC;
Belousova, E;
Benedik, MP;
Carter, T;
Cottin, V;
Curatolo, P;
Dahlin, M;
... Sauter, M; + view all
(2020)
Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas.
Frontiers in neurology
, 11
, Article ARTN 972. 10.3389/fneur.2020.00972.
|
|
|
Kirkham, F;
Auvin, S;
Moreira, J;
Gama, H;
Falcão, AC;
Rocha, J-F;
Soares-da-Silva, P;
(2020)
Efficacy and safety of eslicarbazepine acetate as adjunctive therapy for refractory focal-onset seizures in children: A double-blind, randomized, placebo-controlled, parallel-group, multicenter, phase-III clinical trial.
Epilepsy and Behavior
, 105
, Article 106962. 10.1016/j.yebeh.2020.106962.
|
|
|
Kirkham, FJ;
Vigevano, F;
Raspall-Chaure, M;
Wilken, B;
Lee, D;
Le Reun, C;
Werner-Kiechle, T;
(2020)
Health-related quality of life and the burden of prolonged seizures in noninstitutionalized children with epilepsy.
Epilepsy and Behavior
, 102
, Article 106340. 10.1016/j.yebeh.2019.04.058.
|
|
|
Kirschner, J;
Butoianu, N;
Goemans, N;
Haberlova, J;
Kostera-Pruszczyk, A;
Mercuri, E;
van der Pol, WL;
... Muntoni, F; + view all
(2020)
European ad-hoc consensus statement on gene replacement therapy for spinal muscular atrophy.
European Journal of Paediatric Neurology
10.1016/j.ejpn.2020.07.001.
(In press).
|
|
|
Kölbel, M;
Kirkham, FJ;
Dimitriou, D;
(2020)
Developmental Profile of Sleep and Its Potential Impact on Daytime Functioning from Childhood to Adulthood in Sickle Cell Anaemia.
Brain Sciences
, 10
(12)
, Article 981. 10.3390/brainsci10120981.
|
|
|
Kuchenbuch, M;
D'Onofrio, G;
Wirrell, E;
Jiang, Y;
Dupont, S;
Grinspan, ZM;
Auvin, S;
... Nabbout, R; + view all
(2020)
An accelerated shift in the use of remote systems in epilepsy due to the COVID-19 pandemic.
Epilepsy & Behavior
, 112
, Article 107376. 10.1016/j.yebeh.2020.107376.
|
|
|
Kurian, M;
(2020)
Great expectations: Virus mediated gene therapy in neurological disorders.
Journal of Neurology, Neurosurgery and Psychiatry
, 91
(8)
pp. 849-860.
10.1136/jnnp-2019-322327.
|
|
Kyba, M;
Bloch, RJ;
Dumonceaux, J;
Harper, SQ;
van der Maarel, SM;
Sverdrup, FM;
Wagner, KR;
... Chen, Y-W; + view all
(2020)
Meeting report: the 2020 FSHD International Research Congress.
Skeletal Muscle
, 10
, Article 36. 10.1186/s13395-020-00253-2.
|
|
|
Lacerda, LM;
Clayden, JD;
Handley, SE;
Winston, GP;
Kaden, E;
Tisdall, M;
Cross, JH;
... Clark, CA; + view all
(2020)
Microstructural Investigations of the Visual Pathways in Pediatric Epilepsy Neurosurgery: Insights From Multi-Shell Diffusion Magnetic Resonance Imaging.
Frontiers in Neuroscience
, 14
, Article 269. 10.3389/fnins.2020.00269.
|
|
|
Lamberink, HJ;
Otte, WM;
Blümcke, I;
Braun, KPJ;
European Epilepsy Brain Bank writing group;
study group;
European Reference Network EpiCARE;
(2020)
Seizure outcome and use of antiepileptic drugs after epilepsy surgery according to histopathological diagnosis: a retrospective multicentre cohort study.
Lancet Neurology
, 19
(9)
pp. 748-757.
10.1016/S1474-4422(20)30220-9.
|
|
Le Gall, Laura;
Anakor, Ekene;
Connolly, Owen;
Vijayakumar, Udaya Geetha;
Duddy, William J;
Duguez, Stephanie;
(2020)
Molecular and Cellular Mechanisms Affected in ALS.
Journal of Personalized Medicine
, 10
(3)
, Article 101. 10.3390/jpm10030101.
|
|
|
Le Gall, L;
Sidlauskaite, E;
Mariot, V;
Dumonceaux, J;
(2020)
Therapeutic Strategies Targeting DUX4 in FSHD.
Journal of Clinical Medicine
, 9
(9)
, Article 2886. 10.3390/jcm9092886.
|
|
|
Lee, KS;
Zhang, JJY;
Alamri, A;
Chari, A;
(2020)
Neurosurgery Education in the Medical School Curriculum: A Scoping Review.
World Neurosurgery
, 144
e631-e642.
10.1016/j.wneu.2020.09.015.
|
|
Lenaerts, L;
Reynhout, S;
Verbinnen, I;
Laumonnier, F;
Toutain, A;
Bonnet-Brilhault, F;
Hoorne, Y;
... Janssens, V; + view all
(2020)
The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.
Genetics in Medicine
10.1038/s41436-020-00981-2.
(In press).
|
|
|
Li, C;
Wang, S;
Yan, J-L;
Torheim, T;
Boonzaier, NR;
Sinha, R;
Matys, T;
... Price, SJ; + view all
(2020)
Characterizing tumor invasiveness of glioblastoma using multiparametric magnetic resonance imaging.
Journal of Neurosurgery
, 132
(5)
pp. 1465-1472.
10.3171/2018.12.JNS182926.
|
|
Lim, ST;
Thijs, V;
Murphy, SJX;
Fernandez-Cadenas, I;
Montaner, J;
Offiah, C;
Marquardt, L;
... McCabe, DJH; + view all
(2020)
Platelet function/reactivity testing and prediction of risk of recurrent vascular events and outcomes after TIA or ischaemic stroke: systematic review and meta-analysis.
Journal of Neurology
, 267
pp. 3021-3037.
10.1007/s00415-020-09932-y.
|
|
Ljimani, A;
Caroli, A;
Laustsen, C;
Francis, S;
Mendichovszky, IA;
Bane, O;
Nery, F;
... Sigmund, EE; + view all
(2020)
Consensus-based technical recommendations for clinical translation of renal diffusion-weighted MRI.
Magnetic Resonance Materials in Physics, Biology and Medicine
, 33
pp. 177-195.
10.1007/s10334-019-00790-y.
|
|
|
Lorentzos, MS;
Heyman, I;
Baig, BJ;
Coughtrey, AE;
McWilliams, A;
Dossetor, DR;
Waugh, M-C;
... Dale, RC; + view all
(2020)
Psychiatric comorbidity is common in dystonia and other movement disorders.
Archives of Disease in Childhood
10.1136/archdischild-2020-319541.
(In press).
|
|
|
Lorio, S;
Adler, S;
Gunny, R;
D'Arco, F;
Kaden, E;
Wagstyl, K;
Jacques, TS;
... Carmichael, DW; + view all
(2020)
MRI profiling of focal cortical dysplasia using multi-compartment diffusion models.
Epilepsia
10.1111/epi.16451.
(In press).
|
|
|
Lyons, L;
Schoeler, NE;
Langan, D;
Cross, JH;
(2020)
Use of ketogenic diet therapy in infants with epilepsy: A systematic review and meta-analysis.
Epilepsia
10.1111/epi.16543.
(In press).
|
|
|
Man, K;
Lau, WCY;
Coghill, D;
Besag, FMC;
Cross, JH;
Ip, P;
Wong, ICK;
(2020)
Association between methylphenidate treatment and risk of seizure: A population-based self-controlled case series study.
The Lancet Child & Adolescent Health
, 4
(6)
pp. 435-443.
10.1016/S2352-4642(20)30100-0.
|
|
Manole, A;
Efthymiou, S;
O'Connor, E;
Mendes, MI;
Jennings, M;
Maroofian, R;
Davagnanam, I;
... Houlden, H; + view all
(2020)
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
American Journal of Human Genetics
, 107
(2)
pp. 311-324.
10.1016/j.ajhg.2020.06.016.
|
|
Marcus, HJ;
Rasul, FT;
Hussein, Z;
Baldeweg, SE;
Spoudeas, HA;
Hayward, R;
Jeelani, NUO;
... Aquilina, K; + view all
(2020)
Craniopharyngioma in children: trends from a third consecutive single-center cohort study.
Journal of Neurosurgery
, 25
(3)
pp. 242-250.
10.3171/2019.10.PEDS19147.
|
|
Mariot, V;
Joubert, R;
Marsollier, A-C;
Hourde, C;
Voit, T;
Dumonceaux, J;
(2020)
A Deoxyribonucleic Acid Decoy Trapping DUX4 for the Treatment of Facioscapulohumeral Muscular Dystrophy.
Molecular Therapy - Nucleic Acids
, 22
pp. 1191-1199.
10.1016/j.omtn.2020.10.028.
|
|
|
Mariot, V;
Le Guiner, C;
Barthelemy, I;
Montus, M;
Blot, S;
Torelli, S;
Morgan, J;
... Dumonceaux, J; + view all
(2020)
Myostatin is a quantifiable biomarker for monitoring pharmaco-gene therapy in Duchenne Muscular Dystrophy.
Molecular Therapy - Methods and Clinical Development
, 18
pp. 415-421.
10.1016/j.omtm.2020.06.016.
|
|
|
Martinelli, S;
Cordeddu, V;
Galosi, S;
Lanzo, A;
Palma, E;
Pannone, L;
Ciolfi, A;
... Leuzzi, V; + view all
(2020)
Co-occurring WARS2 and CHRNA6 mutations in a child with a severe form of infantile parkinsonism.
Parkinsonism & Related Disorders
, 72
pp. 75-79.
10.1016/j.parkreldis.2020.02.003.
|
|
Matalonga, L;
Laurie, S;
Papakonstantinou, A;
Piscia, D;
Mereu, E;
Bullich, G;
Thompson, R;
... RD–Connect Genome-Phenome Analysis Platform and URD-Cat Data Con, .; + view all
(2020)
Improved Diagnosis of Rare Disease Patients through Systematic Detection of Runs of Homozygosity.
The Journal of Molecular Diagnostics
, 22
(9)
pp. 1205-1215.
10.1016/j.jmoldx.2020.06.008.
|
|
|
McDonald, CM;
Sajeev, G;
Yao, Z;
McDonnell, E;
Elfring, G;
Souza, M;
Peltz, SW;
... Wong, B; + view all
(2020)
Deflazacort vs prednisone treatment for Duchenne muscular dystrophy: A meta‐analysis of disease progression rates in recent multicenter clinical trials.
Muscle & Nerve
, 61
(1)
pp. 26-35.
10.1002/mus.26736.
|
|
|
McDowell, AR;
Shelmerdine, SC;
Lorio, S;
Norman, W;
Jones, R;
Carmichael, DW;
Arthurs, OJ;
(2020)
Multiparametric mapping in post-mortem perinatal MRI: a feasibility study.
British Journal of Radiology
, 93
, Article 20190952. 10.1259/bjr.20190952.
|
|
McGovern, E;
Pringsheim, T;
Medina, A;
Cosentino, C;
Shalash, A;
Sardar, Z;
Fung, VSC;
... Roze, E; + view all
(2020)
Transitional Care for Young People with Neurological Disorders: A Scoping Review with A Focus on Patients with Movement Disorders.
Movement Disorders
10.1002/mds.28381.
(In press).
|
|
Meng, J;
Counsell, J;
Morgan, JE;
(2020)
Effects of Mini-Dystrophin on Dystrophin-Deficient, Human Skeletal Muscle-Derived Cells.
International Journal of Molecular Sciences
, 21
(19)
, Article 7168. 10.3390/ijms21197168.
|
|
|
Meng, J;
Sweeney, N;
Doreste, B;
Muntoni, F;
McClure, M;
Morgan, J;
(2020)
Restoration of Functional Full-Length Dystrophin After Intramuscular Transplantation of Foamy Virus-Transduced Myoblasts.
Human Gene Therapy
, 31
(3-4)
10.1089/hum.2019.224.
|
|
Menzies, L;
D'Arco, F;
Ganesan, V;
Hurst, JA;
(2020)
Intracranial vascular pathology in two further patients with Floating-Harbor syndrome: Proposals for cerebrovascular disease risk management.
European Journal of Medical Genetics
, 63
(4)
, Article 103785. 10.1016/j.ejmg.2019.103785.
|
|
Mercuri, E;
Muntoni, F;
Osorio, AN;
Tulinius, M;
Buccella, F;
Morgenroth, LP;
Gordish-Dressman, H;
... CINRG Duchenne Natural History Investigators; + view all
(2020)
Safety and effectiveness of ataluren: comparison of results from the STRIDE Registry and CINRG DMD Natural History Study.
Journal of Comparative Effectiveness Research
10.2217/cer-2019-0171.
|
|
|
Mesraoua, B;
Deleu, D;
Al Hail, H;
Melykian, G;
Alsheikh, L;
Ali, MA;
Torbjorn, T;
... Asadi-Pooya, AA; + view all
(2020)
Dramatic outcomes in epilepsy: depression, suicide, injuries, and mortality.
Current Medical Research and Opinion
, 36
(9)
pp. 1473-1480.
10.1080/03007995.2020.1776234.
|
|
|
Mitta, N;
Menon, RN;
McTague, A;
Radhakrishnan, A;
Sundaram, S;
Cherian, A;
Madhavilatha, GK;
... Thomas, SV; + view all
(2020)
Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience.
Epilepsy Research
, 166
, Article 106398. 10.1016/j.eplepsyres.2020.106398.
|
|
Mohammad, SS;
Angiti, RR;
Biggin, A;
Morales-Briceño, H;
Goetti, R;
Perez-Dueñas, B;
Gregory, A;
... Basal Ganglia MRI Study Group; + view all
(2020)
Magnetic resonance imaging pattern recognition in childhood bilateral basal ganglia disorders.
Brain Communications
, 2
(2)
, Article fcaa178. 10.1093/braincomms/fcaa178.
|
|
|
Morgan, J;
Partridge, T;
(2020)
Skeletal muscle in health and disease.
Disease Models & Mechanisms
, 13
(2)
, Article dmm042192. 10.1242/dmm.042192.
|
|
|
Moudgil-Joshi, J;
Venkatesh, A;
Borchert, R;
Chari, A;
(2020)
Letter to the Editor: Why Are Aspiring Neurosurgeons Considering Leaving the National Health Service to Pursue a Career in North America?
World Neurosurgery
, 142
pp. 580-581.
10.1016/j.wneu.2020.07.204.
|
|
Muhly, WT;
Taylor, E;
Razavi, C;
Walker, SM;
Yang, L;
de Graaff, JC;
Vutskits, L;
... Pediatric Perioperative Outcomes Group, .; + view all
(2020)
A systematic review of outcomes reported inpediatric perioperative research: A report from the Pediatric Perioperative Outcomes Group.
Pediatric Anesthesia
, 30
(11)
pp. 1166-1182.
10.1111/pan.13981.
|
|
Muntoni, F;
Bertini, E;
Comi, G;
Kirschner, J;
Lusakowska, A;
Mercuri, E;
Scoto, M;
... Fuerst-Recktenwald, S; + view all
(2020)
Long-term follow-up of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA) treated with olesoxime in the OLEOS trial.
Neuromuscular Disorders
, 30
(12)
pp. 959-969.
10.1016/j.nmd.2020.10.008.
|
|
|
Nahum, AS;
Liégeois, FJ;
(2020)
Language after childhood hemispherectomy: A systematic review.
Neurology
, 95
(23)
pp. 1043-1056.
10.1212/WNL.0000000000011073.
|
|
Nemani, T;
Steel, D;
Kaliakatsos, M;
DeVile, C;
Ververi, A;
Scott, R;
Getov, S;
... Munot, P; + view all
(2020)
KIF1A‐related disorders in children: A wide spectrum of central and peripheral nervous system involvement.
Journal of the Peripheral Nervous System
, 25
(2)
pp. 117-124.
10.1111/jns.12368.
|
|
Neri, M;
Rossi, R;
Trabanelli, C;
Mauro, A;
Selvatici, R;
Falzarano, MS;
Spedicato, N;
... Ferlini, A; + view all
(2020)
The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.
Frontiers in Genetics
, 11
, Article 131. 10.3389/fgene.2020.00131.
|
|
|
Neuray, C;
Maroofian, R;
Scala, M;
Sultan, T;
Pai, GS;
Mojarrad, M;
El Khashab, H;
... Houlden, H; + view all
(2020)
Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.
Brain
10.1093/brain/awaa178.
(In press).
|
|
|
Ng, J;
Cortès-Saladelafont, E;
Abela, L;
Termsarasab, P;
Mankad, K;
Sudhakar, S;
Gorman, KM;
... Kurian, MA; + view all
(2020)
DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism‐Dystonia.
Movement Disorders
10.1002/mds.28063.
(In press).
|
|
|
Novo Matos, J;
Garcia-Canadilla, P;
Simcock, IC;
Hutchinson, JC;
Dobromylskyj, M;
Guy, A;
Arthurs, OJ;
... Luis Fuentes, V; + view all
(2020)
Micro-computed tomography (micro-CT) for the assessment of myocardial disarray, fibrosis and ventricular mass in a feline model of hypertrophic cardiomyopathy.
Scientific Reports
, 10
, Article 20169. 10.1038/s41598-020-76809-5.
|
|
|
Ntalla, I;
Weng, L-C;
Cartwright, JH;
Hall, AW;
Sveinbjornsson, G;
Tucker, NR;
Choi, SH;
... Munroe, PB; + view all
(2020)
Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction.
Nature Communications
, 11
(1)
, Article 2542. 10.1038/s41467-020-15706-x.
|
|
|
O'Cathail, SM;
Wu, C-H;
Lewis, A;
Holmes, C;
Hawkins, MA;
Maughan, T;
(2020)
NRF2 metagene signature is a novel prognostic biomarker in colorectal cancer.
Cancer Genetics
, 248-49
pp. 1-10.
10.1016/j.cancergen.2020.08.006.
|
|
|
Opladen, T;
López-Laso, E;
Cortès-Saladelafont, E;
Pearson, TS;
Sivri, HS;
Yildiz, Y;
Assmann, B;
... International Working Group on Neurotransmitter related Disorder, .; + view all
(2020)
Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH₄) deficiencies.
Orphanet Journal of Rare Diseases
, 15
(1)
, Article 126. 10.1186/s13023-020-01379-8.
|
|
|
Ottaviano, G;
Lucchini, G;
Breuer, J;
Furtado-Silva, JM;
Lazareva, A;
Ciocarlie, O;
Elfeky, R;
... Chiesa, R; + view all
(2020)
Delaying haematopoietic stem cell transplantation in children with viral respiratory infections reduces transplant-related mortality.
British Journal of Haematology
, 188
(4)
pp. 560-569.
10.1111/bjh.16216.
|
|
Papandreou, A;
Danti, FR;
Spaull, R;
Leuzzi, V;
Mctague, A;
Kurian, MA;
(2020)
The expanding spectrum of movement disorders in genetic epilepsies.
Developmental Medicine & Child Neurology
, 62
(2)
pp. 178-191.
10.1111/dmcn.14407.
|
|
Passarelli, C;
Selvatici, R;
Carrieri, A;
Di Raimo, FR;
Falzarano, MS;
Fortunato, F;
Rossi, R;
... Ferlini, A; + view all
(2020)
Tumor Necrosis Factor Receptor SF10A (TNFRSF10A) SNPs Correlate With Corticosteroid Response in Duchenne Muscular Dystrophy.
Frontiers in Genetics
, 11
, Article 605. 10.3389/fgene.2020.00605.
|
|
|
Pavel, AM;
Rennie, JM;
de Vries, LS;
Blennow, M;
Foran, A;
Shah, DK;
Pressler, RM;
... Boylan, GB; + view all
(2020)
A machine-learning algorithm for neonatal seizure recognition: a multicentre, randomised, controlled trial.
The Lancet Child & Adolescent Health
, 4
(10)
pp. 740-749.
10.1016/S2352-4642(20)30239-X.
|
|
|
Pearson, TS;
Gilbert, L;
Opladen, T;
Garcia-Cazorla, A;
Mastrangelo, M;
Leuzzi, V;
Tay, SKH;
... Flint, L; + view all
(2020)
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients.
Journal of Inherited Metabolic Disease
10.1002/jimd.12247.
(In press).
|
|
Piccus, R;
Brayson, D;
(2020)
The nuclear envelope: LINCing tissue mechanics to genome regulation in cardiac and skeletal muscle.
Biology Letters
, 16
(7)
, Article 20200302. 10.1098/rsbl.2020.0302.
|
|
|
Pigdon, L;
Willmott, C;
Reilly, S;
Conti-Ramsden, G;
Liegeois, F;
Connelly, A;
Morgan, AT;
(2020)
The neural basis of nonword repetition in children with developmental speech or language disorder: An fMRI study.
Neuropsychologia
, 138
, Article 107312. 10.1016/j.neuropsychologia.2019.107312.
|
|
Piras, G;
Montiel-Equihua, C;
Chan, Y-KA;
Wantuch, S;
Stuckey, D;
Burke, D;
Prunty, H;
... Gaspar, HB; + view all
(2020)
Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease.
Molecular Therapy - Methods and Clinical Development
, 18
pp. 558-570.
10.1016/j.omtm.2020.07.001.
|
|
|
Pizzamiglio, C;
Lahiri, N;
Nirmalananthan, N;
Sood, B;
Somalanka, S;
Ostrowski, P;
Phadke, R;
... Quinlivan, R; + view all
(2020)
First presentation of LPIN1 acute rhabdomyolysis in adolescence and adulthood.
Neuromuscular Disorders
, 30
(7)
pp. 566-571.
10.1016/j.nmd.2020.05.004.
|
|
Pressler, RM;
Lagae, L;
(2020)
Why we urgently need improved seizure and epilepsy therapies for children and neonates.
Neuropharmacology
, 170
, Article 107854. 10.1016/j.neuropharm.2019.107854.
|
|
Previtali, SC;
Gidaro, T;
Díaz-Manera, J;
Zambon, A;
Carnesecchi, S;
Roux-Lombard, P;
Spitali, P;
... Muntoni, F; + view all
(2020)
Rimeporide as a first- in-class NHE-1 inhibitor: Results of a phase Ib trial in young patients with Duchenne Muscular Dystrophy.
Pharmacological Research
, 159
, Article 104999. 10.1016/j.phrs.2020.104999.
|
|
|
Privitera, L;
Hales, PW;
Musleh, L;
Morris, E;
Sizer, N;
Barone, G;
Humphries, P;
... Giuliani, S; + view all
(2020)
Comparison Between Diffusion-Weighted MRI and I-123-mIBG Uptake in Primary High-Risk Neuroblastoma.
Journal of Magnetic Resonance Imaging
10.1002/jmri.27458.
|
|
|
Raissaki, M;
Shelmerdine, SC;
Damasio, MB;
Toso, S;
Kvist, O;
Lovrenski, J;
Hirsch, FW;
... Caro-Dominguez, P; + view all
(2020)
Management strategies for children with COVID-19: ESPR practical recommendations.
Pediatric Radiology
, 50
pp. 1313-1323.
10.1007/s00247-020-04749-3.
|
|
|
Razavi, C;
Walker, SM;
Moonesinghe, SR;
Stricker, PA;
Pediatric Perioperative Outcomes Group;
(2020)
Pediatric perioperative outcomes: protocol for a systematic literature review and identification of a core outcome set for infants, children, and young people requiring anesthesia and surgery.
Pediatric Anaesthesia
, 30
(4)
pp. 392-400.
10.1111/pan.13825.
|
|
Reid, C;
Arthurs, OJ;
Calder, AD;
Sebire, NJ;
Shelmerdine, SC;
(2020)
The significance of internal calcifications on perinatal post-mortem radiographs.
Clinical Radiology
, 75
, Article 561. 10.1016/j.crad.2020.03.007.
|
|
Rogers, HJ;
Verhagen, MV;
Clark, CA;
Hales, PW;
(2020)
Comparison of models of diffusion in Wilms' tumours and normal contralateral renal tissue.
Magnetic Resonance Materials in Physics, Biology and Medicine
10.1007/s10334-020-00862-4.
(In press).
|
|
|
Ross, JA;
Tasfaout, H;
Levy, Y;
Morgan, J;
Cowling, BS;
Laporte, J;
Zanoteli, E;
... Ochala, J; + view all
(2020)
rAAV-related therapy fully rescues myonuclear and myofilament function in X-linked myotubular myopathy.
Acta Neuropathologica Communications
, 8
(1)
, Article 167. 10.1186/s40478-020-01048-8.
|
|
|
Rossor, AM;
Sleigh, JN;
Groves, M;
Muntoni, F;
Reilly, MM;
Hoogenraad, CC;
Schiavo, G;
(2020)
Loss of BICD2 in muscle drives motor neuron loss in a developmental form of spinal muscular atrophy.
Acta Neuropathol Commun
, 8
, Article 34. 10.1186/s40478-020-00909-6.
|
|
|
Sakkalou, E;
O'Reilly, MA;
Sakki, H;
Springall, C;
de Haan, M;
Salt, AT;
Dale, NJ;
(2020)
Mother-infant interactions with infants with congenital visual impairment and associations with longitudinal outcomes in cognition and language.
Journal of Child Psychology and Psychiatry
10.1111/jcpp.13308.
(In press).
|
|
|
Sanchis-Juan, A;
Hasenahuer, MA;
Baker, JA;
McTague, A;
Barwick, K;
Kurian, MA;
Duarte, ST;
... Raymond, FL; + view all
(2020)
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.
Molecular Genetics & Genomic Medicine
, Article e1106. 10.1002/mgg3.1106.
(In press).
|
|
|
Sankar, R;
Kirkham, FJ;
Holmes, GL;
Pina-Garza, JE;
Wheless, J;
Gama, H;
Moreira, J;
... Grinnell, T; + view all
(2020)
Long-term safety and tolerability of adjunctive eslicarbazepine acetate in children with focal seizures.
Epilepsy and Behavior
, 112
, Article 107458. 10.1016/j.yebeh.2020.107458.
|
|
|
Sanson, M;
Vu Hong, A;
Massourides, E;
Bourg, N;
Suel, L;
Amor, F;
Corre, G;
... Israeli, D; + view all
(2020)
miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophy.
Scientific Reports
, 10
(1)
, Article 9139. 10.1038/s41598-020-66016-7.
|
|
|
Sarkozy, A;
Foley, AR;
Zambon, AA;
Bönnemann, CG;
Muntoni, F;
(2020)
LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness.
Frontiers in Molecular Neuroscience
, 13
, Article 123. 10.3389/fnmol.2020.00123.
|
|
|
Scaglioni, D;
Ellis, M;
Catapano, F;
Torelli, S;
Chambers, D;
Feng, L;
Sewry, C;
... Phadke, R; + view all
(2020)
A high–throughput digital script for multiplexed immunofluorescent analysis and quantification of sarcolemmal and sarcomeric proteins in muscular dystrophies.
Acta Neuropathologica Communications
, 8
, Article 53. 10.1186/s40478-020-00918-5.
|
|
|
Scala, M;
Chua, GL;
Chin, CF;
Alsaif, HS;
Borovikov, A;
Riazuddin, S;
Riazuddin, S;
... Silver, DL; + view all
(2020)
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features.
European Journal of Human Genetics
, 28
pp. 1509-1519.
10.1038/s41431-020-0669-x.
|
|
Scheller, M;
Proulx, MJ;
De Haan, M;
Dahlmann-Noor, A;
Petrini, K;
(2020)
Late‐ but not early‐onset blindness impairs the development of audio‐haptic multisensory integration.
Developmental Science
, Article e13001. 10.1111/desc.13001.
(In press).
|
|
|
Schoeler, NE;
Cross, JH;
(2020)
Ketogenic diet therapy in infants with epilepsy.
Paediatrics and Child Health
, 30
(10)
pp. 356-360.
10.1016/j.paed.2020.07.004.
|
|
Schoeler, NE;
Simpson, Z;
Whiteley, VJ;
Nguyen, P;
Meskell, R;
Lightfoot, K;
Martin-McGill, KJ;
... Ketogenic Dietitians Research Network (KDRN); + view all
(2020)
Biochemical assessment of patients following ketogenic diets for epilepsy: Current practice in the UK and Ireland.
Epilepsia Open
, 5
(1)
pp. 73-79.
10.1002/epi4.12371.
|
|
|
Servais, L;
Straathof, CSM;
Schara, U;
Klein, A;
Leinonen, M;
Hasham, S;
Meier, T;
... SYROS and CINRG DNHS Investigators; + view all
(2020)
Long-term data with idebenone on respiratory function outcomes in patients with Duchenne muscular dystrophy.
Neuromuscular Disorders
, 30
(1)
pp. 5-16.
10.1016/j.nmd.2019.10.008.
|
|
Shafran, R;
Bennett, S;
Coughtrey, A;
Welch, A;
Walji, F;
Cross, JH;
Heyman, I;
... Moss-Morris, R; + view all
(2020)
Optimising Evidence-Based Psychological Treatment for the Mental Health Needs of Children with Epilepsy: Principles and Methods.
Clinical Child and Family Psychology Review
10.1007/s10567-019-00310-3.
(In press).
|
|
|
Shelmerdine, SC;
Hutchinson, JC;
Arthurs, OJ;
Sebire, NJ;
(2020)
Latest Developments in Post-Mortem Fetal Imaging.
Prenatal Diagnosis
, 40
(1)
pp. 28-37.
10.1002/pd.5562.
|
|
Shelmerdine, SC;
Hutchinson, JC;
Ward, L;
Sekar, T;
Ashworth, MT;
Levine, S;
Sebire, NJ;
(2020)
INTACT (INcision‐less TArgeted Core Tissue) biopsy procedure for perinatal autopsy: initial feasibility.
Ultrasound in Obstetrics & Gynecology
, 55
(5)
pp. 667-675.
10.1002/uog.20387.
|
|
|
Shelmerdine, SC;
Sebire, NJ;
Arthurs, OJ;
(2020)
Diagnostic accuracy of postmortem ultrasound vs 1.5T postmortem MRI for non-invasive perinatal autopsies.
Ultrasound in Obstetrics & Gynecology
, 57
(3)
pp. 449-458.
10.1002/uog.22012.
|
|
|
Shelmerdine, SC;
Simcock, IC;
Ciaran Hutchinson, J;
Guy, A;
Ashworth, MT;
Sebire, NJ;
Arthurs, OJ;
(2020)
Post-mortem micro-CT for non-invasive autopsies: Experience in > 250 human fetuses.
American Journal of Obstetrics and Gynecology
10.1016/j.ajog.2020.07.019.
(In press).
|
|
|
Shirley, MK;
Cole, TJ;
Arthurs, OJ;
Clark, CA;
Wells, JCK;
(2020)
Developmental origins of variability in pelvic dimensions: Evidence from nulliparous South Asian women in the United Kingdom.
American Journal of Human Biology
, 32
(2)
, Article e23340. 10.1002/ajhb.23340.
|
|
|
Sidlauskaite, E;
Le Gall, L;
Mariot, V;
Dumonceaux, J;
(2020)
DUX4 Expression in FSHD Muscles: Focus on Its mRNA Regulation.
Journal of Personalized Medicine
, 10
(3)
, Article 73. 10.3390/jpm10030073.
|
|
|
Silwal, A;
Sarkozy, A;
Scoto, M;
Ridout, D;
Schmidt, A;
Laverty, A;
Henriques, M;
... Muntoni, F; + view all
(2020)
Selenoprotein N‐related myopathy: a retrospective natural history study to guide clinical trials.
Annals of Clinical and Translational Neurology
, 7
(11)
pp. 2288-2296.
10.1002/acn3.51218.
|
|
|
Simcock, IC;
Hutchinson, JC;
Shelmerdine, SC;
Matos, JN;
Sebire, NJ;
Fuentes, VL;
Arthurs, OJ;
(2020)
Investigation of optimal sample preparation conditions with potassium triiodide and optimal imaging settings for microfocus computed tomography of excised cat hearts.
American Journal of Veterinary Research
, 81
(4)
pp. 326-333.
10.2460/ajvr.81.4.326.
|
|
Solomou, G;
Murphy, S;
Bandyopadhyay, S;
Horsfall, HL;
Mohan, M;
Chari, A;
Sinha, S;
(2020)
Neurosurgery specialty training in the UK: What you need to know to be shortlisted for an interview.
Annals of Medicine and Surgery
, 57
pp. 287-290.
10.1016/j.amsu.2020.07.047.
|
|
|
Spitali, P;
Zaharieva, I;
Bohringer, S;
Hiller, M;
Chaouch, A;
Roos, A;
Scotton, C;
... Aartsma-Rus, A; + view all
(2020)
TCTEX1D1 is a genetic modifier of disease progression in Duchenne muscular dystrophy.
European Journal of Human Genetics
10.1038/s41431-019-0563-6.
(In press).
|
|
|
Sprute, R;
Jergas, H;
Ölmez, A;
Alawbathani, S;
Karasoy, H;
Salimi Dafsari, H;
Becker, K;
... Cirak, S; + view all
(2020)
Genotype-phenotype correlation in seven motor neuron disease families with novel ALS2 mutations.
American Journal of Medical Genetics Part A
10.1002/ajmg.a.61951.
(In press).
|
|
|
Steel, D;
Kurian, MA;
(2020)
Recent genetic advances in early-onset dystonia.
Current Opinion in Neurology
, 33
(4)
pp. 500-507.
10.1097/WCO.0000000000000831.
|
|
Steel, D;
Heim, J;
Kruer, MC;
Sanchis-Juan, A;
Raymond, LF;
Eunson, P;
Kurian, MA;
(2020)
Biallelic mutations of TBC1D24 in exercise-induced paroxysmal dystonia.
Movement Disorders
, 35
(2)
pp. 372-373.
10.1002/mds.27981.
|
|
Steel, D;
Zech, M;
Zhao, C;
Barwick, KE;
Burke, D;
Demailly, D;
Kumar, KR;
... Winkelmann, J; + view all
(2020)
Loss-of-function variants in HOPS complex genes VPS16 and VPS41 cause early-onset dystonia associated with lysosomal abnormalities.
Annals of Neurology
, 88
(5)
pp. 867-877.
10.1002/ana.25879.
|
|
|
Straathof, K;
Flutter, B;
Wallace, R;
Jain, N;
Loka, T;
Depani, S;
Wright, G;
... Anderson, J; + view all
(2020)
Anti-tumor activity without on-target off-tumor toxicity of GD2-Chimeric Antigen Receptor T cells in patients with neuroblastoma.
Science Translational Medicine
, 12
(571)
, Article eabd6169. 10.1126/scitranslmed.abd6169.
|
|
Strandberg, K;
Ayoglu, B;
Roos, A;
Reza, M;
Niks, E;
Signorelli, M;
Fasterius, E;
... Szigyarto, CA-K; + view all
(2020)
Blood-derived biomarkers correlate with clinical progression in Duchenne muscular dystrophy.
Journal of Neuromuscular Diseases
, 7
(3)
pp. 231-246.
10.3233/JND-190454.
|
|
|
Sullivan, JM;
Motley, WW;
Johnson, JO;
Aisenberg, WH;
Marshall, KL;
Barwick, KES;
Kong, L;
... Sumner, CJ; + view all
(2020)
Dominant mutations of the Notch ligand Jagged1 cause peripheral neuropathy.
Journal of Clinical Investigation
, 130
(3)
pp. 1506-1512.
10.1172/JCI128152.
|
|
|
Surana, S;
Rossor, T;
Hassell, J;
Boyd, S;
D'Arco, F;
Aylett, S;
Bhate, S;
... Hacohen, Y; + view all
(2020)
Diagnostic algorithm for children presenting with epilepsia partialis continua.
Epilepsia
, 61
(10)
pp. 2224-2233.
10.1111/epi.16650.
|
|
Symonds, JD;
McTague, A;
(2020)
Epilepsy and developmental disorders: Next generation sequencing in the clinic.
European Journal of Paediatric Neurology
, 24
pp. 15-23.
10.1016/j.ejpn.2019.12.008.
|
|
Szychot, E;
Seunarine, K;
Robles, C;
Mandeville, H;
Mankad, K;
Clark, C;
Peregud-Pogorzelski, J;
(2020)
Estimating brain volume loss after radiation therapy in children treated for posterior fossa tumors (Corpus callosum and whole brain volume changes following radiotherapy in children).
Advances in Clinical and Experimental Medicine
, 29
(3)
10.17219/acem/114827.
|
|
|
Thaventhiran, JED;
Lango Allen, H;
Burren, OS;
Rae, W;
Greene, D;
Staples, E;
Zhang, Z;
... Smith, KGC; + view all
(2020)
Whole-genome sequencing of a sporadic primary immunodeficiency cohort.
Nature
, 583
pp. 90-95.
10.1038/s41586-020-2265-1.
|
|
Thiele, EA;
Bebin, EM;
Bhathal, H;
Jansen, FE;
Kotulska, K;
Lawson, JA;
O'Callaghan, FJ;
... Knappertz, V; + view all
(2020)
Add-On Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex A Placebo-Controlled Randomized Clinical Trial.
JAMA Neurology
, 78
(3)
pp. 285-292.
10.1001/jamaneurol.2020.4607.
|
|
|
Thorpe, J;
Ashby, S;
Hallab, A;
Ding, D;
Andraus, M;
Dugan, P;
Perucca, P;
... COVID-19 and Epilepsy (COV-E) Study Group; + view all
(2020)
Evaluating risk to people with epilepsy during the COVID-19 pandemic: Preliminary findings from the COV-E study.
Epilepsy & Behavior
10.1016/j.yebeh.2020.107658.
(In press).
|
|
|
Toescu, SM;
Hales, PW;
Tisdall, MM;
Aquilina, K;
Clark, CA;
(2020)
Neurosurgical applications of tractography in the UK.
British Journal of Neurosurgery
10.1080/02688697.2020.1849542.
(In press).
|
|
|
Traub, RD;
Moeller, F;
Rosch, R;
Baldeweg, T;
Whittington, MA;
Hall, SP;
(2020)
Seizure initiation in infantile spasms vs. focal seizures: proposed common cellular mechanisms.
Reviews in the Neurosciences
, 31
(2)
pp. 181-200.
10.1515/revneuro-2019-0030.
|
|
Trucco, F;
Domingos, J;
Tay, CG;
Ridout, D;
Maresh, K;
Munot, P;
Sarkozy, A;
... Muntoni, F; + view all
(2020)
Cardiorespiratory Progression Over 5 Years and Role of Corticosteroids in Duchenne Muscular Dystrophy: A Single-Site Retrospective Longitudinal Study.
Chest
, 158
(4)
pp. 1606-1616.
10.1016/j.chest.2020.04.043.
|
|
Trucco, F;
Ridout, D;
Scoto, M;
Coratti, G;
Main, ML;
Lofra, RM;
Mayhew, AG;
... International SMA consortium (iSMAc); + view all
(2020)
Respiratory trajectories in type 2 and non-ambulant 3 Spinal muscular atrophy in the iSMAC cohort study.
Neurology
10.1212/WNL.0000000000011051.
(In press).
|
|
|
Tsang, MHY;
Chiu, ATG;
Kwong, BMH;
Liang, R;
Yu, MHC;
Yeung, K-S;
Ho, WHL;
... Chan, SHS; + view all
(2020)
Diagnostic value of whole-exome sequencing in Chinese pediatric-onset neuromuscular patients.
Molecular Genetics & Genomic Medicin
, 8
(5)
, Article e1205. 10.1002/mgg3.1205.
|
|
Tsirka, A;
Liasis, A;
Kuczynski, A;
Vargha-Khadem, F;
Kukadia, R;
Dutton, G;
Bowman, R;
(2020)
Clinical use of the Insight Inventory in cerebral visual impairment and the effectiveness of tailored habilitational strategies.
Developmental Medicine & Child Neurology
10.1111/dmcn.14650.
(In press).
|
|
|
Turro, E;
Astle, WJ;
Megy, K;
Gräf, S;
Greene, D;
Shamardina, O;
Allen, HL;
... Ouwehand, WH; + view all
(2020)
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature
, 583
pp. 96-102.
10.1038/s41586-020-2434-2.
|
|
Twomey, DM;
Ahearne, C;
Hennessy, E;
Wrigley, C;
De Haan, M;
Marlow, N;
Murray, DM;
(2020)
Concurrent validity of a touchscreen application to detect early cognitive delay.
Archives of Disease in Childhood
10.1136/archdischild-2019-318262.
(In press).
|
|
|
van Rijn, Rick R;
Stafrace, Samuel;
Arthurs, Owen J;
Rosendahl, Karen;
(2020)
Non-radiologist-performed point-of-care ultrasonography in paediatrics - European Society of Paediatric Radiology position paper.
Pediatric Radiology
, 51
(1)
pp. 161-167.
10.1007/s00247-020-04843-6.
|
|
Verriotis, M;
Moayedi, M;
Sorger, C;
Peters, J;
Seunarine, K;
Clark, CA;
Walker, SM;
(2020)
The feasibility and acceptability of research magnetic resonance imaging in adolescents with moderate-severe neuropathic pain.
PAIN Reports
, 5
(1)
, Article e807. 10.1097/PR9.0000000000000807.
|
|
|
Vezyroglou, A;
Varadkar, S;
Bast, T;
Hirsch, E;
Strobl, K;
Harvey, AS;
Epilepsy Surgery in SCN1A Study Group;
... Cross, JH; + view all
(2020)
Focal epilepsy in SCN1A-mutation carrying patients: is there a role for epilepsy surgery?
Developmental Medicine & Child Neurology
10.1111/dmcn.14588.
(In press).
|
|
|
Wagstyl, K;
Adler, S;
Pimpel, B;
Chari, A;
Seunarine, K;
Lorio, S;
Thornton, R;
... Tisdall, M; + view all
(2020)
Planning stereoelectroencephalography using automated lesion detection: Retrospective feasibility study.
Epilepsia
10.1111/epi.16574.
(In press).
|
|
|
Walimbe, AS;
Okuma, H;
Joseph, S;
Yang, T;
Yonekawa, T;
Hord, JM;
Venzke, D;
... Campbell, KP; + view all
(2020)
POMK regulates dystroglycan function via LARGE-mediated elongation of matriglycan.
Elife
, 9
, Article e61388. 10.7554/eLife.61388.
(In press).
|
|
|
Walker, SM;
(2020)
Neuropathic pain in children: Steps towards improved recognition and management.
EBioMedicine
, 62
, Article 103124. 10.1016/j.ebiom.2020.103124.
|
|
|
Whiteley, VJ;
Martin-McGill, KJ;
Carroll, JH;
Taylor, H;
Schoeler, NE;
(2020)
Nice to know: impact of NICE guidelines on ketogenic diet services nationwide.
Journal of Human Nutrition and Dietetics
, 33
(1)
pp. 98-105.
10.1111/jhn.12697.
|
|
Wirrell, EC;
Grinspan, ZM;
Knupp, KG;
Jiang, Y;
Hammeed, B;
Mytinger, JR;
Patel, AD;
... Shellhaas, RA; + view all
(2020)
Care Delivery for Children With Epilepsy During the COVID-19 Pandemic: An International Survey of Clinicians.
Journal of Child Neurology
10.1177/0883073820940189.
(In press).
|
|
|
Zambon, AA;
Pitt, M;
Laurà, M;
Polke, JM;
Reilly, MM;
Muntoni, F;
(2020)
A novel homozygous variant extending the peripheral myelin protein 22 by 9 AMino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxia.
Journal of the Peripheral Nervous System
, 25
(3)
pp. 303-307.
10.1111/jns.12386.
|
|
|
Zambon, AA;
Ridout, D;
Main, M;
Mein, R;
Phadke, R;
Muntoni, F;
Sarkozy, A;
(2020)
LAMA2-related muscular dystrophy: Natural history of a large pediatric cohort.
Annals of Clinical and Translational Neurology
, 7
(10)
pp. 18870-1882.
10.1002/acn3.51172.
|
|
|
Zhou, H;
Meng, J;
Malerba, A;
Catapano, F;
Sintusek, P;
Jarmin, S;
Feng, L;
... Muntoni, F; + view all
(2020)
Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy.
Journal of Cachexia, Sarcopenia and Muscle
10.1002/jcsm.12542.
(In press).
|
|
Zhou, H;
Muntoni, F;
(2020)
The authors reply: Letter on: "Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy" by Zhou et al .
[Letter].
Journal of Cachexia, Sarcopenia and Muscle
10.1002/jcsm.12608.
(In press).
|
|
|
Zwi-Dantsis, L;
Winter, CW;
Kauscher, U;
Ferrini, A;
Wang, B;
Whittaker, TE;
Hood, SR;
... Stevens, MM; + view all
(2020)
Highly purified extracellular vesicles from human cardiomyocytes demonstrate preferential uptake by human endothelial cells.
Nanoscale
10.1039/d0nr04278a.
(In press).
|
|
Book chapter
|
Kirkham, F;
(2020)
Coagulopathies.
In: Rosenberg, R and Pascual, J, (eds.)
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease.
(pp. 579-593).
Elsevier
|
|
Kirkham, F;
(2020)
Sickle Cell Disease.
In: Rosenberg, R and Pascual, J, (eds.)
Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease.
(pp. 595-609).
Elsevier
|
|
Kirkham, F;
Laugesaar, R;
Talvik, T;
Metsvaht, T;
Talvik, I;
(2020)
Acute stroke.
In: Kennedy, C, (ed.)
Principles and Practice of Child Neurology in Infancy.
MacKeith Press
|
|
Kirkham, F;
Talviik, T;
Metsvaht, T;
Talviik, I;
(2020)
Acute non-febrile encephalopathy and traumatic brain injury.
In: Kennedy, C, (ed.)
Principles and Practice of Child Neurology in Infancy.
MacKeith Press
|
Proceedings paper
|
Murdoch, R;
Kawadler, J;
Carmichael, D;
Kirkham, F;
Shmueli, K;
(2020)
Can multi-parametric mapping sequences be used for accurate quantitative susceptibility mapping?
In:
Proceedings of the 2020 ISMRM & SMRT VIRTUAL CONFERENCE & EXHIBITION.
(pp. pp. 1-3).
International Society for Magnetic Resonance in Medicine (ISMRM)
|
|
Stotesbury, H;
Murdoch, R;
Hales, P;
Kawadler, J;
Kolbel, M;
Carmichael, D;
Clark, C;
... Shmueli, K; + view all
(2020)
Venous oxygenation in sickle cell patients and controls using quantitative susceptibility mapping versus T2- relaxation-under-spin-tagging.
In:
Proceedings of the 2020 ISMRM & SMRT VIRTUAL CONFERENCE & EXHIBITION.
(pp. pp. 1-3).
International Society for Magnetic Resonance in Medicine (ISMRM)
|
Conference item
|
Hood, A;
(2020)
Mental Health and Quality of Life in Paediatric Chronic Illness Populations.
Presented at: Health and Wellbeing Seminar, London, UK.
|
 |
|
Hood, AM;
Nwankwo, C;
McTate, E;
Joffe, NE;
Quinn, CT;
Peugh, JL;
Crosby, LE;
(2020)
Mobile Health Use Predicts Self-Efficacy and Self-Management in Adolescents with Sickle Cell Disease.
Presented at: 62nd ASH Annual Meeting and Exposition, Virtual conference.
|
Thesis
|
Elfeky, Reem Ahmed;
(2020)
Donor T cells with inducible caspase safety switch following haploidentical transplants.
Doctoral thesis (M.D(Res)), UCL (University College London).
|
|
|
Lavander-Ferreira, Mérari Jizar;
(2020)
Number Processing in Infants and Children Born Very Preterm.
Doctoral thesis (Ph.D), UCL (University College London).
|
|
|
Li, Shengnan;
(2020)
A pain behavioural study of three novel mouse knockout models for Scn9a NAT, Gm765 and Tmem233.
Doctoral thesis (Ph.D), UCL (University College London).
|
|
Papandreou, Apostolos;
(2020)
Investigation of Disease Mechanisms and Screening for Treatments in Betapropeller Protein-Associated Neurodegeneration (BPAN).
Doctoral thesis (Ph.D), UCL (University College London).
|
