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Number of items: 56.
Article
Abela, Lucia;
Gianfrancesco, Lorita;
Tagliatti, Erica;
Rossignoli, Giada;
Barwick, Katy;
Zourray, Clara;
Reid, Kimberley M;
... Kurian, Manju A; + view all
(2024)
Neurodevelopmental and synaptic defects in DNAJC6 parkinsonism, amenable to gene therapy.
Brain
, Article awae020. 10.1093/brain/awae020.
(In press).
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AlMail, Ali;
Jamjoom, Ahmed;
Pan, Amy;
Feng, Min Yi;
Chau, Vann;
D'Gama, Alissa M;
Howell, Katherine;
... Costain, Gregory; + view all
(2024)
Consensus reporting guidelines to address gaps in descriptions of ultra-rare genetic conditions.
npj Genomic Medicine
, 9
(1)
, Article 27. 10.1038/s41525-024-00408-w.
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Behrndt, Laken;
Gregory, Allison;
Wakeman, Katrina;
Freed, Alison;
Wilson, Jenny L;
Spaull, Robert;
Kurian, Manju A;
... Yang, Scott; + view all
(2024)
Femur Fractures in 5 Individuals With Pantothenate Kinase-associated Neurodegeneration: The Role of Dystonia and Suggested Management.
Journal of Pediatric Orthopaedics
, 44
(1)
e61-e68.
10.1097/BPO.0000000000002555.
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Bevandić, Juraj;
Chareyron, Loïc J;
Bachevalier, Jocelyne;
Cacucci, Francesca;
Genzel, Lisa;
Newcombe, Nora S;
Vargha-Khadem, Faraneh;
(2024)
Episodic memory development: Bridging animal and human research.
Neuron
10.1016/j.neuron.2024.01.020.
(In press).
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Chiriboga, Claudia A;
Bruno, Claudio;
Duong, Tina;
Fischer, Dirk;
Mercuri, Eugenio;
Kirschner, Janbernd;
Kostera-Pruszczyk, Anna;
... JEWELFISH Study Group; + view all
(2024)
JEWELFISH: 24-month results from an open-label study in non-treatment-naïve patients with SMA receiving treatment with risdiplam.
Journal of Neurology
10.1007/s00415-024-12318-z.
(In press).
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Choi, EJ;
Levin, D;
Robertson, A;
Kirkham, FJ;
Muthusami, P;
Krishnan, P;
Shroff, M;
... Dlamini, N; + view all
(2024)
Assessment of MR blood-oxygen-level-dependent (BOLD) cerebrovascular reactivity under general anesthesia in children with moyamoya.
Pediatric Radiology
10.1007/s00247-024-05930-8.
(In press).
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Chu, Wing Sum;
Ng, Joanne;
Waddington, Simon N;
Kurian, Manju A;
(2024)
Gene therapy for neurotransmitter-related disorders.
Journal of Inherited Metabolic Diseases
, 47
(1)
pp. 176-191.
10.1002/jimd.12697.
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Coratti, Giorgia;
Bovis, Francesca;
Pera, Maria Carmela;
Scoto, Mariacristina;
Montes, Jacqueline;
Pasternak, Amy;
Mayhew, Anna;
... Mercuri, Eugenio; + view all
(2024)
Determining minimal clinically important differences in the Hammersmith Functional Motor Scale Expanded for untreated spinal muscular atrophy patients: An international study.
European Journal of Neurology
10.1111/ene.16309.
(In press).
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Corlette, Sebastian J;
Walker, Suellen M;
Cornelissen, Laura;
Brasher, Christopher;
Bower, Janeen;
Davidson, Andrew J;
(2024)
Changes in the term neonatal electroencephalogram with general anesthesia – a systematic review with narrative synthesis.
Anesthesiology
10.1097/aln.0000000000005088.
(In press).
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Cornell, Nikki;
Childs, Anne-Marie;
Wraige, Elizabeth;
Munot, Pinki;
Ambegaonkar, Gautam;
Chow, Gabriel;
Hughes, Imelda;
... paediatric UK risdiplam EAMS working group, .; + view all
(2024)
Risdiplam in Spinal Muscular Atrophy: Safety Profile and Use Through The Early Access to Medicine Scheme for the Paediatric Cohort in Great Britain.
Journal of Neuromuscular Diseases
, 11
(2)
pp. 361-368.
10.3233/JND-230162.
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Couto, Blas;
Galosi, Serena;
Steel, Dora;
Kurian, Manju A;
Friedman, Jennifer;
Gorodetsky, Carolina;
Lang, Anthony E;
(2024)
Severe Acute Motor Exacerbations (SAME) across Metabolic, Developmental and Genetic Disorders.
Movement Disorders
, 39
(9)
pp. 1446-1467.
10.1002/mds.29905.
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Doherty, Carolynne M;
Howard, Paige;
O'Donnell, Luke F;
Zuccarino, Riccardo;
Wastling, Stephen;
Milev, Evelin;
Banks, Tina;
... Reilly, Mary M; + view all
(2024)
Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot–Marie–Tooth Disease Type 1A.
Annals of Neurology
10.1002/ana.26934.
(In press).
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Doherty, CM;
Morrow, JM;
Zuccarino, R;
Howard, P;
Wastling, S;
Pipis, M;
Zafeiropoulos, N;
... Reilly, MM; + view all
(2024)
Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A.
Annals of Clinical and Translational Neurology
10.1002/acn3.51979.
(In press).
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Drabek-Maunder, Emily R;
Mankad, Kshitij;
Aquilina, Kristian;
Dean, Jamie A;
Nisbet, Andrew;
Clark, Chris A;
(2024)
Using diffusion MRI to understand white matter damage and the link between brain microstructure and cognitive deficits in paediatric medulloblastoma patients.
European Journal of Radiology
, 177
, Article 111562. 10.1016/j.ejrad.2024.111562.
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Duff, Claire;
Islam, Madeha;
Gagliano, Onelia;
Pramod, Hema;
Rashidi, Hassan;
Kurian, Manju;
Gissen, Paul;
(2024)
Generation of induced pluripotent stem cells (UCLi024-A) from a patient with argininosuccinate lyase deficiency carrying a homozygous c.437G > A (p.Arg146Gln) mutation.
Stem Cell Research
, 76
, Article 103365. 10.1016/j.scr.2024.103365.
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European Society for Paediatric Gastroenterology, Hepatology & N;
European Academy of Paediatrics (EAP);
European Society for Paediatric Research (ESPR);
European Academy for Allergy and Clinical Immunology (EAACI);
Federation of International Societies for Paediatric Gastroenter;
Latin American Society for Pediatric Gastroenterology, Hepatolog;
Pan Arab Society for Pediatric Gastroenterology and Nutrition;
... Asia Pacific Academy of Pediatric Allergy, Respirology & Immunol; + view all
(2024)
World Health Organization (WHO) guideline on the complementary feeding of infants and young children aged 6−23 months 2023: A multisociety response.
Journal of Pediatric Gastroenterology and Nutrition
, 79
(1)
10.1002/jpn3.12248.
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Feng, Xiyu;
Piper, Rory J;
Prentice, Freya;
Clayden, Jonathan D;
Baldeweg, Torsten;
(2024)
Functional brain connectivity in children with focal epilepsy: A systematic review of functional MRI studies.
Seizure
, 117
pp. 164-173.
10.1016/j.seizure.2024.02.021.
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Fewtrell, Mary;
European Society for Paediatric Gastroenterology, Hepatology & N;
European Academy of Paediatrics (EAP);
European Society for Paediatric Research (ESPR);
European Academy for Allergy and Clinical Immunology (EAACI);
Federation of International Societies for Paediatric Gastroenter;
Latin American Society for Pediatric Gastroenterology, Hepatolog;
... Asia Pacific Academy of Pediatric Allergy, Respirology & Immunol; + view all
(2024)
Response to: Grummer-Strawn LM, Lutter CK, Siegfried N, et al. Response to: World Health Organization (WHO) guideline on the complementary feeding of infants and young children aged 6-23 months 2023: A multisociety response. JPGN 2024.
Journal of Pediatric Gastroenterology and Nutrition
, 79
(5)
pp. 1087-1089.
10.1002/jpn3.12362.
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Gifford, Alison;
Griffiths, Michael J;
Rodie, Philippa;
Wilmshurst, Jo;
Ball, Jessica;
Dunkley, Colin;
McLellan, Ailsa;
... Kirkpatrick, Martin; + view all
(2024)
Reducing epilepsy diagnostic and treatment gaps: Standardized paediatric epilepsy training courses for health.
Developmental Medicine & Child Neurology
10.1111/dmcn.15864.
(In press).
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Gill, SK;
Rose, HEL;
Wilson, M;
Rodriguez Gutierrez, D;
Worthington, L;
Davies, NP;
MacPherson, L;
... Peet, AC; + view all
(2024)
Characterisation of paediatric brain tumours by their MRS metabolite profiles.
NMR in Biomedicine
10.1002/nbm.5101.
(In press).
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Gokce-Samar, Zeynep;
Vetro, Annalisa;
De Bellescize, Julitta;
Pisano, Tiziana;
Monteiro, Laloe;
Penaud, Noémie;
Korff, Christian M;
... Lesca, Gaetan; + view all
(2024)
Molecular and Phenotypic Characterization of the RORB-Related Disorder.
Neurology
, 102
(2)
, Article e207945. 10.1212/WNL.0000000000207945.
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Gowda, V;
Atherton, M;
Murugan, A;
Servais, L;
Sheehan, J;
Standing, E;
Manzur, A;
... Wraige, E; + view all
(2024)
Efficacy and safety of onasemnogene abeparvovec in children with spinal muscular atrophy type 1: real-world evidence from 6 infusion centres in the United Kingdom.
The Lancet Regional Health - Europe
, 37
, Article 100817. 10.1016/j.lanepe.2023.100817.
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Griffen, Corbin;
Schoeler, Natasha E;
Browne, Robert;
Cameron, Tracy;
Kirkpatrick, Martin;
Thowfeek, Seema;
Munn, Judith;
... Stratton, Rebecca J; + view all
(2024)
Tolerance, adherence, and acceptability of a ketogenic 2.5:1 ratio, nutritionally complete, medium chain triglyceride-containing liquid feed in children and adults with drug-resistant epilepsy following a ketogenic diet.
Epilepsia Open
10.1002/epi4.12910.
(In press).
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Ho, Natalie CW;
Bethlehem, Richard Ai;
Seidlitz, Jakob;
Nogovitsyn, Nikita;
Metzak, Paul;
Ballester, Pedro L;
Hassel, Stefanie;
... Dunlop, Katharine; + view all
(2024)
Atypical Brain Aging and Its Association With Working Memory Performance in Major Depressive Disorder.
Biological Psychiatry: Cognitive Neuroscience and Neuroimaging
10.1016/j.bpsc.2024.04.008.
(In press).
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Iff, Joel;
Done, Nicolae;
Tuttle, Edward;
Zhong, Yi;
Wei, Fangzhou;
Darras, Basil T;
McDonald, Craig M;
... Muntoni, Francesco; + view all
(2024)
Survival among patients receiving eteplirsen for up to 8 years for the treatment of Duchenne muscular dystrophy and contextualization with natural history controls.
Muscle & Nerve
10.1002/mus.28075.
(In press).
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Iro, Mildred A;
Sadarangani, Manish;
Absoud, Michael;
Cantrell, Liberty;
Chong, Wui K;
Clark, Christopher;
Easton, Ava;
... IgNiTE Study Team; + view all
(2024)
Intravenous immunoglobulin treatment for encephalitis in children aged 6 months to 16 years: the IgNiTE RCT.
Efficacy and Mechanism Evaluation
, 11
(6)
10.3310/yjwq4299.
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Kerkelä, Leevi;
Seunarine, Kiran;
Szczepankiewicz, Filip;
Clark, Chris A;
(2024)
Spherical convolutional neural networks can improve brain microstructure estimation from diffusion MRI data.
Frontiers in Neuroimaging
, 3
, Article 1349415. 10.3389/fnimg.2024.1349415.
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Kok, Tori;
Varley, Rosemary;
Clark, Chris;
Verriotis, Madeleine;
Seunarine, Kiran;
Shekhawat, Giriraj Singh;
(2024)
Resting-state networks in chronic tinnitus: Increased connectivity between thalamus and visual areas.
Hearing Research
, 453
, Article 109122. 10.1016/j.heares.2024.109122.
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Komulainen-Ebrahim, Jonna;
Kangas, Salla M;
López-Martín, Estrella;
Feyma, Timothy;
Scaglia, Fernando;
Martínez-Delgado, Beatriz;
Kuismin, Outi;
... Uusimaa, Johanna; + view all
(2024)
Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant.
Movement Disorders Clinical Practice
10.1002/mdc3.14051.
(In press).
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Layo-Carris, Dana E;
Lubin, Emily E;
Sangree, Annabel K;
Clark, Kelly J;
Durham, Emily L;
Gonzalez, Elizabeth M;
Smith, Sarina;
... Bryant, Laura M; + view all
(2024)
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.
European Journal of Human Genetics
10.1038/s41431-024-01610-1.
(In press).
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Macrae, Emma;
Milosavljevic, Bosiljka;
Katus, Laura;
Mason, Luke;
Amado, Marta Perapoch;
Rozhko, Maria;
De Haan, Michelle;
... Lloyd-Fox, Sarah; + view all
(2024)
Cognitive control in infancy: Attentional predictors using a tablet-based measure.
Infancy
10.1111/infa.12599.
(In press).
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Milev, Evelin;
Selby, Victoria;
Wolfe, Amy;
Rohwer, Annemarie;
Tillmann, Ricarda;
Ramsey, Danielle;
Iodice, Mario;
... Muntoni, Francesco; + view all
(2024)
Assessment of the upper limb function, strength, and mobility in treatment-naive children with spinal muscular atrophy Types 2 and 3.
Muscle Nerve
10.1002/mus.28041.
(In press).
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Morison, Lottie D;
Kennis, Milou GP;
Rots, Dmitrijs;
Bouman, Arianne;
Kummeling, Joost;
Palmer, Elizabeth;
Vogel, Adam P;
... Morgan, Angela T; + view all
(2024)
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.
Journal of Medical Genetics
10.1136/jmg-2023-109702.
(In press).
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Muntoni, Francesco;
Byrne, Barry J;
McMillan, Hugh J;
Ryan, Monique M;
Wong, Brenda L;
Dukart, Juergen;
Bansal, Amita;
... Taldefgrobep Alfa Study Group; + view all
(2024)
The Clinical Development of Taldefgrobep Alfa: An Anti-Myostatin Adnectin for the Treatment of Duchenne Muscular Dystrophy.
Neurology and Therapy
10.1007/s40120-023-00570-w.
(In press).
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Pastore, Luigi Vincenzo;
Sudhakar, Sniya Valsa;
Mankad, Kshitij;
De Vita, Enrico;
Biswas, Asthik;
Tisdall, Martin M;
Chari, Aswin;
... D'Arco, Felice; + view all
(2024)
Integrating standard epilepsy protocol, ASL-perfusion, MP2RAGE/EDGE and the MELD-FCD classifier in the detection of subtle epileptogenic lesions: a 3 Tesla MRI pilot study.
Neuroradiology
10.1007/s00234-024-03488-8.
(In press).
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Pauling, Cato;
Kanber, Baris;
Arthurs, Owen J;
Shelmerdine, Susan C;
(2024)
Commercially available artificial intelligence tools for fracture detection: the evidence.
BJR|Open
, 6
(1)
, Article tzad005. 10.1093/bjro/tzad005.
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Ramantani, Georgia;
Cserpan, Dorottya;
Tisdall, Martin;
Otte, Willem M;
Dorfmüller, Georg;
Cross, J Helen;
van Schooneveld, Monique;
... Braun, Kees PJ; + view all
(2024)
Determinants of Functional Outcome after Pediatric Hemispherotomy.
Annals of Neurology
, 95
(2)
pp. 377-387.
10.1002/ana.26830.
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Salim, Omar;
Chari, Aswin;
Ben Zvi, Ido;
Batchelor, Rachel;
Jones, Monika;
Baldeweg, Torsten;
Cross, J Helen;
(2024)
Patient, parent and carer perspectives surrounding expedited paediatric epilepsy surgery.
Epilepsy Research
, 200
, Article 107309. 10.1016/j.eplepsyres.2024.107309.
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Saposnik, Gustavo;
Bushnell, Cheryl;
Coutinho, Jonathan M;
Field, Thalia S;
Furie, Karen L;
Galadanci, Najibah;
Kam, Wayneho;
... American Heart Association Stroke Council; Council on Cardiopulm; + view all
(2024)
Diagnosis and Management of Cerebral Venous Thrombosis: A Scientific Statement From the American Heart Association.
Stroke
, 55
(3)
, Article 2744. 10.1161/STR.0000000000000456.
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Servais, Laurent;
Day, John W;
De Vivo, Darryl C;
Kirschner, Janbernd;
Mercuri, Eugenio;
Muntoni, Francesco;
Proud, Crystal M;
... Finkel, Richard S; + view all
(2024)
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry.
Journal of Neuromuscular Diseases
10.3233/JND-230122.
(In press).
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Sisodiya, SM;
Gulcebi, MI;
Fortunato, F;
Mills, JD;
Haynes, E;
Bramon, E;
Chadwick, P;
... Hanna, MG; + view all
(2024)
Climate change and disorders of the nervous system.
The Lancet Neurology
, 23
(6)
pp. 636-648.
10.1016/S1474-4422(24)00087-5.
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Spaull, Robert;
Soo, Audrey K;
Batzios, Spyros;
Footitt, Emma;
Whiteley, Rebecca;
Mink, Jonathan W;
Carr, Lucinda;
... Kurian, Manju A; + view all
(2024)
Evolution of Movement Disorders in Patients With CLN2-Batten Disease Treated With Enzyme Replacement Therapy.
Neurology
, 103
(3)
, Article e209615. 10.1212/WNL.0000000000209615.
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Thompson-Lake, Daisy GY;
Liegeois, Frederique J;
Braden, Ruth O;
Jackson, Graeme D;
Turner, Samantha J;
Morison, Lottie;
Hildebrand, Michael;
... Morgan, Angela T; + view all
(2024)
Perisylvian and Hippocampal Anomalies in Individuals With Pathogenic GRIN2A Variants.
Neurology Genetics
, 10
(2)
, Article e200129. 10.1212/NXG.0000000000200129.
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Thöny, B;
Ng, J;
Kurian, MA;
Mills, P;
Martinez, A;
(2024)
Mouse models for inherited monoamine neurotransmitter disorders.
Journal of Inherited Metabolic Disease
10.1002/jimd.12710.
(In press).
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Töpf, Ana;
Cox, Dan;
Zaharieva, Irina T;
Di Leo, Valeria;
Sarparanta, Jaakko;
Jonson, Per Harald;
Sealy, Ian M;
... Straub, Volker; + view all
(2024)
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy.
Nature Genetics
10.1038/s41588-023-01651-0.
(In press).
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Trimmer, Rachel E;
Mandy, William PL;
Muntoni, Francesco;
Maresh, Kate E;
(2024)
Understanding anxiety experienced by young males with Duchenne Muscular Dystrophy: a qualitative focus group study.
Neuromuscular Disorders
, 34
pp. 95-104.
10.1016/j.nmd.2023.12.002.
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Tutelman, Perri R;
MacKenzie, Nicole E;
Chambers, Christine T;
Coffman, Siobhan;
Cornelissen, Laura;
Cormier, Brittany;
Higgins, Kristen S;
... Walker, Suellen; + view all
(2024)
Quantitative sensory testing for assessment of somatosensory function in children and adolescents: a scoping review.
PAIN Reports
, 9
(3)
, Article e1151. 10.1097/pr9.0000000000001151.
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van Dalen, Thijs;
Kirkham, Jessica F;
Chari, Aswin;
D'Arco, Felice;
Moeller, Friederike;
Eltze, Christin;
Cross, J Helen;
... Thornton, Rachel C; + view all
(2024)
Characterizing Frontal Lobe Seizure Semiology in Children.
Annals of Neurology
10.1002/ana.26922.
(In press).
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Varley, James A;
Champsas, Dimitrios;
Prossor, Timothy;
Pontillo, Giuseppe;
Abdel-Mannan, Omar;
Khaleeli, Zhaleh;
Petzold, Axel;
... Ciccarelli, Olga; + view all
(2024)
Validation of the 2023 International Diagnostic
Criteria for MOGAD in a Selected Cohort of Adults
and Children.
Neurology
, 103
(1)
10.1212/WNL.0000000000209321.
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Walker, Elise Jade;
Kirkham, Fenella Jane;
Hood, Anna Marie;
(2024)
Decline in Processing Speed Tells Only Half the Story: Developmental Delay in Children Living with Sickle Cell Disease.
Children
, 11
(3)
, Article 277. 10.3390/children11030277.
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Whiteley, Victoria J;
Schoeler, Natasha E;
(2024)
Nice to know 2: The impact of NICE guidelines on ketogenic diet services in the UK and Ireland – An update.
Journal of Human Nutrition and Dietetics
10.1111/jhn.13359.
(In press).
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Wolfe, Amy;
Stimpson, Georgia;
Ramsey, Danielle;
Coratti, Giorgia;
Dunaway Young, Sally;
Mayhew, Anna;
Pane, Marika;
... international SMA consortium (iSMAc); + view all
(2024)
Disease Trajectories in the Revised Hammersmith Scale in a Cohort of Untreated Patients with Spinal Muscular Atrophy types 2 and 3.
Journal of Neuromuscular Diseases
10.3233/JND-230211.
(In press).
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Xu, Yajing;
Koch, Stephanie C;
Chamessian, Alexander;
He, Qianru;
Sundukova, Mayya;
Heppenstall, Paul;
Ji, RuRong;
... Beggs, Simon; + view all
(2024)
Microglial Refinement of A-Fiber Projections in the Postnatal Spinal Cord Dorsal Horn Is Required for Normal Maturation of Dynamic Touch.
Journal of Neuroscience
, 44
(2)
, Article e1354232023. 10.1523/JNEUROSCI.1354-23.2023.
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Young, Fiona;
Aquilina, Kristian;
Seunarine, Kiran K;
Mancini, Laura;
Clark, Chris A;
Clayden, Jonathan D;
(2024)
Fibre orientation atlas guided rapid segmentation of white matter tracts.
Human Brain Mapping
, 45
(2)
, Article e26578. 10.1002/hbm.26578.
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Thesis
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Piper, Rory J.;
(2024)
Network-guided surgery for children with epilepsy.
Doctoral thesis (Ph.D), UCL (University College London).
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Stefani, Artemis;
(2024)
Executive Function through the first decade of life: the case of preterm birth.
Doctoral thesis (Ph.D), UCL (University College London).
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