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Number of items: 206.
1
100,000 Genomes Project Pilot Investigators;
Smedley, D;
Smith, KR;
Martin, A;
Thomas, EA;
McDonagh, EM;
Cipriani, V;
... Caulfield, M; + view all
(2021)
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report.
New England Journal of Medicine
, 385
(20)
pp. 1868-1880.
10.1056/NEJMoa2035790.
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A
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Abdullahi, SU;
Wudil, BJ;
Bello-Manga, H;
Musa, AB;
Gambo, S;
Galadanci, NA;
Aminu, H;
... DeBaun, MR; + view all
(2021)
Primary prevention of stroke in children with sickle cell anemia in sub-Saharan Africa: rationale and design of phase III randomized clinical trial.
Pediatric Hematology and Oncology
, 38
(1)
pp. 49-64.
10.1080/08880018.2020.1810183.
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Adams, SP;
Gravett, E;
Kent, N;
Kricke, S;
Ifederu, A;
Scoto, M;
Samsuddin, S;
(2021)
Screening of Neonatal UK Dried Blood Spots Using a Duplex SMN1 Screening Assay.
International Journal of Neonatal Screening
, 7
(4)
, Article 69. 10.3390/ijns7040069.
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Aguilar, JI;
Cheng, MH;
Font, J;
Schwartz, AC;
Ledwitch, K;
Duran, A;
Mabry, SJ;
... Galli, A; + view all
(2021)
Psychomotor impairments and therapeutic implications revealed by a mutation associated with infantile Parkinsonism-Dystonia.
eLife
, 10
, Article e68039. 10.7554/eLife.68039.
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Ahluwalia, TS;
Prins, BP;
Abdollahi, M;
Armstrong, NJ;
Aslibekyan, S;
Bain, L;
Jefferis, B;
... Alizadeh, BZ; + view all
(2021)
Genome-Wide Association Study of Circulating Interleukin 6 Levels Identifies Novel Loci.
Human Molecular Genetics
, 30
(5)
pp. 393-409.
10.1093/hmg/ddab023.
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Amin, S;
Mallick, AA;
Edwards, H;
Cortina-Borja, M;
Laugharne, M;
Likeman, M;
O'Callaghan, FJK;
(2021)
The metformin in tuberous sclerosis (MiTS) study: A randomised double-blind placebo-controlled trial.
EClinicalMedicine
, Article 100715. 10.1016/j.eclinm.2020.100715.
(In press).
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Amor, F;
Vu Hong, A;
Corre, G;
Sanson, M;
Suel, L;
Blaie, S;
Servais, L;
... Israeli, D; + view all
(2021)
Cholesterol metabolism is a potential therapeutic target in Duchenne muscular dystrophy.
Journal of Cachexia, Sarcopenia and Muscle
, 12
(3)
pp. 677-693.
10.1002/jcsm.12708.
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Anakor, E;
Le Gall, L;
Dumonceaux, J;
Duddy, WJ;
Duguez, S;
(2021)
Exosomes in ageing and motor neurone disease: Biogenesis, uptake mechanisms, modifications in disease and uses in the development of biomarkers and therapeutics.
Cells
, 10
(11)
, Article 2930. 10.3390/cells10112930.
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Andraus, M;
Thorpe, J;
Tai, XY;
Ashby, S;
Hallab, A;
Ding, D;
Dugan, P;
... Sen, A; + view all
(2021)
Impact of the COVID-19 pandemic on people with epilepsy: Findings from the Brazilian arm of the COV-E study.
Epilepsy & Behavior
, 123
, Article 108261. 10.1016/j.yebeh.2021.108261.
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Arthurs, OJ;
Oates, A;
Halliday, K;
(2021)
Paediatric radiology: child abuse imaging in the national spotlight.
Clinical Radiology
, 76
(9)
pp. 631-633.
10.1016/j.crad.2021.07.001.
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B
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Balestrini, S;
Koepp, MJ;
Gandhi, S;
Rickman, HM;
Yen Shin, G;
Houlihan, CF;
Anders-Cannon, J;
... Sisodiya, SM; + view all
(2021)
Clinical outcomes of COVID-19 in long-term care facilities for people with epilepsy.
Epilepsy & Behavior
, 115
, Article 107602. 10.1016/j.yebeh.2020.107602.
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Balestrini, S;
Chiarello, D;
Gogou, M;
Silvennoinen, K;
Puvirajasinghe, C;
Jones, WD;
Reif, P;
... Sisodiya, SM; + view all
(2021)
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies.
Journal of Neurology, Neurosurgery & Psychiatry
10.1136/jnnp-2020-325932.
(In press).
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Bandyopadhyay, S;
Khan, DZ;
Marcus, HJ;
Schroeder, BE;
Patel, V;
O’Donnell, A;
Ahmed, S;
... Youssef, M; + view all
(2021)
CSF Rhinorrhea After Endonasal Intervention to the Skull Base (CRANIAL) — Part 2: Impact of COVID-19.
World Neurosurgery
, 149
e1090-e1097.
10.1016/j.wneu.2020.12.169.
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Baranello, G;
Gorni, K;
Daigl, M;
Kotzeva, A;
Evans, R;
Hawkins, N;
Scott, DA;
... Servais, L; + view all
(2021)
Prognostic factors and treatment-effect modifiers in spinal muscular atrophy.
Clinical Pharmacology and Therapeutics
10.1002/cpt.2247.
(In press).
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Baranello, G;
Darras, BT;
Day, JW;
Deconinck, N;
Klein, A;
Masson, R;
Mercuri, E;
... FIREFISH Working Group; + view all
(2021)
Risdiplam in Type 1 Spinal Muscular Atrophy.
New England Journal of Medicine
, 384
(10)
pp. 915-923.
10.1056/NEJMoa2009965.
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Ben Yaou, R;
Yun, P;
Dabaj, I;
Norato, G;
Donkervoort, S;
Xiong, H;
Nascimento, A;
... Bonne, G; + view all
(2021)
International retrospective natural history study of LMNA-related congenital muscular dystrophy.
Brain Communications
, 3
(3)
, Article fcab075. 10.1093/braincomms/fcab075.
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Beniczky, S;
Husain, A;
Ikeda, A;
Alabri, H;
Helen Cross, J;
Wilmshurst, J;
Seeck, M;
... Trinka, E; + view all
(2021)
Importance of access to epilepsy monitoring units during the COVID-19 pandemic: Consensus statement of the International League against epilepsy and the International Federation of Clinical Neurophysiology.
Clinical Neurophysiology
, 132
(9)
pp. 2248-2250.
10.1016/j.clinph.2021.05.001.
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Bennett, S;
Au, C;
Byford, S;
Chorpita, B;
Coughtrey, A;
Cross, H;
Dalrymple, E;
... Shafran, R; + view all
(2021)
Feasibility of telephone-delivered therapy for common mental health difficulties embedded in paediatric epilepsy clinics.
Epilepsy & Behavior
, 116
, Article 107743. 10.1016/j.yebeh.2020.107743.
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Beslow, LA;
Linds, AB;
Fox, CK;
Kossorotoff, M;
Zuñiga Zambrano, YC;
Hernández-Chávez, M;
Hassanein, SMA;
... International Pediatric Stroke Study Group; + view all
(2021)
Pediatric Ischemic Stroke: An Infrequent Complication of SARS-CoV-2.
Annals of Neurology
, 89
(4)
pp. 657-665.
10.1002/ana.25991.
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Betts, CA;
Jagannath, A;
van Westering, TLE;
Bowerman, M;
Banerjee, S;
Meng, J;
Falzarano, MS;
... Wood, MJA; + view all
(2021)
Dystrophin involvement in peripheral circadian SRF signalling.
Life Science Alliance
, 4
(10)
, Article e202101014. 10.26508/lsa.202101014.
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Bjellvi, J;
Cross, JH;
Gogou, M;
Leclercq, M;
Rheims, S;
Ryvlin, P;
Sperling, MR;
... Malmgren, K; + view all
(2021)
Classification of complications of epilepsy surgery and invasive diagnostic procedures: A proposed protocol and feasibility study.
Epilepsia
10.1111/epi.17040.
(In press).
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Blackburn, E;
D’arco, F;
Devito, A;
Ioppolo, R;
Lorio, S;
Quirk, B;
Ganesan, V;
(2021)
Predictors of motor outcome after childhood arterial ischemic stroke.
Developmental Medicine & Child Neurology
10.1111/dmcn.14914.
(In press).
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Budinger, D;
Barral, S;
Soo, AKS;
Kurian, MA;
(2021)
The role of manganese dysregulation in neurological disease: emerging evidence.
The Lancet Neurology
, 20
(11)
pp. 956-968.
10.1016/S1474-4422(21)00238-6.
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Byrne, M;
Aughwane, R;
James, JL;
Hutchinson, C;
Arthurs, O;
Sebire, N;
Ourselin, S;
... Clark, AR; + view all
(2021)
Structure-function relationships in the feto-placental circulation from in silico interpretation of micro-CT vascular structures.
Journal of Theoretical Biology
, 517
, Article 110630. 10.1016/j.jtbi.2021.110630.
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C
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Cardenal-Muñoz, E;
Auvin, S;
Villanueva, V;
Cross, JH;
Zuberi, SM;
Lagae, L;
Aibar, JÁ;
(2021)
Guidance on Dravet Syndrome from Infant to Adult Care: Road Map for Treatment Planning in Europe.
Epilepsia Open
10.1002/epi4.12569.
(In press).
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Carmichael, P;
Butler, G;
Masic, U;
Cole, TJ;
De Stavola, BL;
Davidson, S;
Skageberg, EM;
... Viner, RM; + view all
(2021)
Short-term outcomes of pubertal suppression in a selected cohort of 12 to 15 year old young people with persistent gender dysphoria in the UK.
PLoS One
, 16
(2)
, Article e0243894. 10.1371/journal.pone.0243894.
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Chari, A;
Budhdeo, S;
Sparks, R;
Barone, DG;
Marcus, HJ;
Pereira, EAC;
Tisdall, MM;
(2021)
Brain–Machine Interfaces: The Role of the Neurosurgeon.
World Neurosurgery
, 146
pp. 140-147.
10.1016/j.wneu.2020.11.028.
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Chari, A;
Mallucci, C;
Whitelaw, A;
Aquilina, K;
(2021)
Intraventricular haemorrhage and posthaemorrhagic ventricular dilatation: moving beyond CSF diversion.
Child's Nervous System
10.1007/s00381-021-05206-8.
(In press).
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Clayton, LM;
Balestrini, S;
Cross, JH;
Wilson, G;
Eldred, C;
Evans, H;
Koepp, MJ;
(2021)
The impact of SARS-CoV-2 vaccination in Dravet Syndrome: A UK survey.
Epilepsy & Behavior
, 124
, Article 108258. 10.1016/j.yebeh.2021.108258.
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Cohen, NT;
Cross, JH;
Arzimanoglou, A;
Berkovic, SF;
Kerrigan, JF;
Miller, IP;
Webster, E;
... Hypothalamic Hamartoma writing group; + view all
(2021)
Hypothalamic Hamartomas: Evolving Understanding and Management.
Neurology
, 97
(18)
pp. 864-873.
10.1212/WNL.0000000000012773.
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Coratti, G;
Pera, MC;
Montes, J;
Pasternak, A;
Scoto, M;
Baranello, G;
Messina, S;
... Mercuri, E; + view all
(2021)
Different trajectories in upper limb and gross motor function in spinal muscular atrophy.
Muscle & Nerve
, 64
(5)
pp. 552-559.
10.1002/mus.27384.
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Coratti, G;
Pane, M;
Brogna, C;
Ricotti, V;
Messina, S;
D'Amico, A;
Bruno, C;
... on behalf on the International DMD Group and the iMDEX Consortiu; + view all
(2021)
North Star Ambulatory Assessment changes in ambulant Duchenne boys amenable to skip exons 44, 45, 51, and 53: A 3 year follow up.
PLoS One
, 16
(6)
, Article e0253882. 10.1371/journal.pone.0253882.
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Cross, JH;
Galer, BS;
Gil-Nagel, A;
Devinsky, O;
Ceulemans, B;
Lagae, L;
Schoonjans, A-S;
... Gammaitoni, AR; + view all
(2021)
Impact of fenfluramine on the expected SUDEP mortality rates in patients with Dravet syndrome.
Seizure
, 93
pp. 154-159.
10.1016/j.seizure.2021.10.024.
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Cross, JH;
Kwon, C-S;
Asadi-Pooya, AA;
Balagura, G;
Gómez-Iglesias, P;
Guekht, A;
Hall, J;
... ILAE Task Forces on COVID-19, Telemedicine, .; + view all
(2021)
Epilepsy care during the COVID-19 pandemic.
Epilepsia
, 62
(10)
pp. 2322-2332.
10.1111/epi.17045.
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Cross, JH;
Tomson, T;
(2021)
Newer versus older antiseizure medications: further forward?
The Lancet
, 397
(10282)
pp. 1327-1329.
10.1016/S0140-6736(21)00435-9.
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Cross, JH;
(2021)
Epilepsy in 2020—a new dawn.
The Lancet Neurology
, 20
(1)
pp. 8-10.
10.1016/S1474-4422(20)30438-5.
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D
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Darras, BT;
Masson, R;
Mazurkiewicz-Bełdzińska, M;
Rose, K;
Xiong, H;
Zanoteli, E;
Baranello, G;
... FIREFISH Working Group; + view all
(2021)
Risdiplam-Treated Infants with Type 1 Spinal Muscular Atrophy versus Historical Controls.
New England Journal of Medicine
, 385
pp. 427-435.
10.1056/NEJMoa2102047.
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Datta, AN;
Bahi-Buisson, N;
Bienvenu, T;
Buerki, SE;
Gardiner, F;
Cross, JH;
Heron, B;
... Lemke, JR; + view all
(2021)
The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy.
Epilepsia
10.1111/epi.16761.
(In press).
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Davendralingam, N;
Shelmerdine, SC;
Hutchinson, JC;
Chopra, M;
Barrett, H;
Agahi, A;
Palm, L;
(2021)
Ligamentum arteriosum calcification on paediatric postmortem computed tomography.
Pediatric Radiology
, 51
(3)
pp. 385-391.
10.1007/s00247-020-04839-2.
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De Amicis, R;
Baranello, G;
Foppiani, A;
Leone, A;
Battezzati, A;
Bedogni, G;
Ravella, S;
... Bertoli, S; + view all
(2021)
Growth patterns in children with spinal muscular atrophy.
Orphanet Journal of Rare Diseases
, 16
(1)
, Article 375. 10.1186/s13023-021-02015-9.
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De Gruijter, N;
Naja, M;
Peckham, H;
Radziszewska, A;
Kinsella, M;
Glenister, J;
Rosser, E;
... Ciurtin, C; + view all
(2021)
A systematic review exploring the bidirectional relationship between puberty and autoimmune rheumatic diseases.
Paediatric Rheumatology
, 19
, Article 47. 10.1186/s12969-021-00528-y.
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De Vito, A;
Mankad, K;
Pujar, S;
Chari, A;
Ippolito, D;
D'Arco, F;
(2021)
Narrative review of epilepsy: getting the most out of your neuroimaging.
Translational Pediatrics
, 10
(4)
pp. 1078-1099.
10.21037/tp-20-261.
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Disma, N;
Veyckemans, F;
Virag, K;
Hansen, TG;
Becke, K;
Harlet, P;
Vutskits, L;
... Sunderland, R; + view all
(2021)
Morbidity and mortality after anaesthesia in early life: results of the European prospective multicentre observational study, neonate and children audit of anaesthesia practice in Europe (NECTARINE).
British Journal of Anaesthesia
10.1016/j.bja.2021.02.016.
(In press).
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Disma, N;
Virag, K;
Riva, T;
Kaufmann, J;
Engelhardt, T;
Habre, W;
Breschan, C;
... Katalin, V; + view all
(2021)
Difficult tracheal intubation in neonates and infants. NEonate and Children audiT of Anaesthesia pRactice IN Europe (NECTARINE): a prospective European multicentre observational study.
British Journal of Anaesthesia
10.1016/j.bja.2021.02.021.
(In press).
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E
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Eccleston, C;
Fisher, E;
Howard, RF;
Slater, R;
Forgeron, P;
Palermo, TM;
Birnie, KA;
... Wood, C; + view all
(2021)
Delivering transformative action in paediatric pain: a Lancet Child & Adolescent Health Commission.
The Lancet Child & Adolescent Health
, 5
(1)
pp. 47-87.
10.1016/S2352-4642(20)30277-7.
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Elward, RL;
Rugg, MD;
Vargha-Khadem, F;
(2021)
When the brain, but not the person, remembers: Cortical reinstatement is modulated by retrieval goal in developmental amnesia.
Neuropsychologia
, 154
, Article 107788. 10.1016/j.neuropsychologia.2021.107788.
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F
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Falzarano, MS;
Rossi, R;
Grilli, A;
Fang, M;
Osman, H;
Sabatelli, P;
Antoniel, M;
... Ferlini, A; + view all
(2021)
Urine-Derived Stem Cells Express 571 Neuromuscular Disorders Causing Genes, Making Them a Potential in vitro Model for Rare Genetic Diseases.
Frontiers in Physiology
, 12
, Article 716471. 10.3389/fphys.2021.716471.
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Ferlini, A;
Goyenvalle, A;
Muntoni, F;
(2021)
RNA-targeted drugs for neuromuscular diseases.
Science
, 371
(6524)
pp. 29-31.
10.1126/science.aba4515.
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Ferrini, A;
Steel, D;
Barwick, K;
Kurian, MA;
(2021)
An Update on the Phenotype, Genotype and Neurobiology of ADCY5-Related Disease.
Movement Disorders
10.1002/mds.28495.
(In press).
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Foppiani, A;
De Amicis, R;
Leone, A;
Ravella, S;
Bedogni, G;
Battezzati, A;
D'Amico, A;
... Bertoli, S; + view all
(2021)
Predictive fat mass equations for spinal muscular atrophy type I children: Development and internal validation.
Clinical Nutrition
, 40
(4)
pp. 1578-1587.
10.1016/j.clnu.2021.02.026.
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Fortunato, F;
Rossi, R;
Falzarano, MS;
Ferlini, A;
(2021)
Innovative Therapeutic Approaches for Duchenne Muscular Dystrophy.
Journal of Clinical Medicine
, 10
(4)
, Article 820. 10.3390/jcm10040820.
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G
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Ganassi, M;
Muntoni, F;
Zammit, PS;
(2021)
Defining and Identifying Satellite Cell-opathies within Muscular Dystrophies and Myopathies.
Experimental Cell Research
, Article 112906. 10.1016/j.yexcr.2021.112906.
(In press).
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Ghafuri, DL;
Greene, BC;
Musa, B;
Gambo, A;
Sani, A;
Abdullahi, S;
Wudil, BJ;
... Jordan, LC; + view all
(2021)
Capacity Building for Primary Stroke Prevention Teams in Children Living With Sickle Cell Anemia in Africa.
Pediatric Neurology
, 125
pp. 9-15.
10.1016/j.pediatrneurol.2021.08.010.
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Gileadi, TE;
Swamy, AK;
Hore, Z;
Horswell, S;
Ellegood, J;
Mohan, C;
Mizuno, K;
... Basson, MA; + view all
(2021)
Effects of Low-Dose Gestational TCDD Exposure on Behavior and on Hippocampal Neuron Morphology and Gene Expression in Mice.
Environmental Health Perspectives
, 129
(5)
, Article 057002. 10.1289/EHP7352.
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Gogou, M;
Cross, JH;
(2021)
Fenfluramine as antiseizure medication for epilepsy.
Developmental Medicine & Child Neurology
10.1111/dmcn.14822.
(In press).
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Goodman, LD;
Cope, H;
Nil, Z;
Ravenscroft, TA;
Charng, WL;
Lu, S;
Tien, AC;
... Tan, QKG; + view all
(2021)
TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila.
American Journal of Human Genetics
, 108
(9)
pp. 1669-1691.
10.1016/j.ajhg.2021.06.019.
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Gyori, NG;
Clark, CA;
Alexander, DC;
Kaden, E;
(2021)
On the potential for mapping apparent neural soma density via a clinically viable diffusion MRI protocol.
NeuroImage
, 239
, Article 118303. 10.1016/j.neuroimage.2021.118303.
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H
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Hands, C;
Hands, S;
Verriotis, M;
Bunn, J;
Bailey, E;
Samuels, RJ;
Sankoh, K;
... Taylor, S; + view all
(2021)
Emergency Triage Assessment and Treatment Plus (ETAT+): adapting training to strengthen quality improvement and task-sharing in emergency paediatric care in Sierra Leone.
Journal of global health
, 11
, Article 04069. 10.7189/jogh.11.04069.
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Harrop, E;
Liossi, C;
Jamieson, L;
Gastine, S;
Oulton, K;
Skene, SS;
Howard, RF;
... Wong, ICK; + view all
(2021)
Consensus for methods and outcomes in trials of oral morphine versus transmucosal diamorphine for breakthrough pain in children in the UK: the DIPPER study.
BMJ Supportive and Palliative Care
10.1136/bmjspcare-2021-003278.
(In press).
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Henderson, MET;
Brayson, D;
Halsey, LG;
(2021)
The cardio‐respiratory effects of passive heating and the human thermoneutral zone.
Physiological Reports
, 9
(16)
, Article e14973. 10.14814/phy2.14973.
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Henshall, DC;
Guerrini, R;
Jozwiak, S;
Kokaia, M;
Pitkanen, A;
Sisodiya, S;
Simonato, M;
... Sofia, F; + view all
(2021)
Meeting report: EpiXchange II brings together European epilepsy research projects to discuss latest advances.
Epilepsy Research
, 178
, Article 106811. 10.1016/j.eplepsyres.2021.106811.
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Heslop, E;
Turner, C;
Irvin, A;
Muntoni, F;
Straub, V;
Guglieri, M;
(2021)
Gene therapy in Duchenne muscular dystrophy: Identifying and preparing for the challenges ahead.
Neuromuscular Disorders
, 31
(1)
pp. 69-78.
10.1016/j.nmd.2020.10.001.
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Hikmat, O;
Isohanni, P;
Keshavan, N;
Ferla, MP;
Fassone, E;
Abbott, M-A;
Bellusci, M;
... Rahman, S; + view all
(2021)
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease.
Annals of Clinical and Translational Neurology
, 8
(11)
pp. 2155-2165.
10.1002/acn3.51470.
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Holl, DC;
Chari, A;
Iorio-Morin, C;
Dammers, R;
van der Gaag, NA;
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