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Number of items: 239.
A
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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B
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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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C
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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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D
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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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E
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Elfeky, Reem Ahmed;
(2020)
Donor T cells with inducible caspase safety switch following haploidentical transplants.
Doctoral thesis (M.D(Res)), UCL (University College London).
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F
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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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G
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Gaillard, WD;
Jette, N;
Arnold, ST;
Arzimanoglou, A;
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