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Number of items: 58.

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). Green open access
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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. Green open access
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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. Green open access
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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). Green open access
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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). Green open access
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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).

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. Green open access
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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). Green open access
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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). Green open access
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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. Green open access
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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.

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). Green open access
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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). Green open access
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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. Green open access
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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. Green open access
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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.

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.

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.

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). Green open access
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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). Green open access
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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.

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. Green open access
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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). Green open access
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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).

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). Green open access
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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. Green open access
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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. Green open access
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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. Green open access
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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). Green open access
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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). Green open access
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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). Green open access
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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). Green open access
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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). Green open access
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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). Green open access
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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).

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. Green open access
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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.

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. Green open access
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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. Green open access
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Schoeler, Natasha E; Marston, Louise; Lyons, Laura; Halsall, Sally; Jain, Ruchika; Titre-Johnson, Siobhan; Balogun, Maryam; ... Cross, J Helen; + view all (2024) Efficacy and safety of ketogenic diet in infants with epilepsy: KIWE RCT. Efficacy and Mechanism Evaluation , 11 (16) pp. 1-54. 10.3310/yjtr9895. Green open access
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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). Green open access
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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. Green open access
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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. Green open access
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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. Green open access
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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). Green open access
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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). Green open access
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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.

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. Green open access
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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).

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. Green open access
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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. Green open access
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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).

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). Green open access
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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. Green open access
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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. Green open access
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Thesis

Piper, Rory J.; (2024) Network-guided surgery for children with epilepsy. Doctoral thesis (Ph.D), UCL (University College London).

Stefani, Artemis; (2024) Executive Function through the first decade of life: the case of preterm birth. Doctoral thesis (Ph.D), UCL (University College London).

Stimpson, Georgia; (2024) Incorporating data insights and clinical knowledge in statistical methodologies: Modelling disease trajectories in children with Duchenne Muscular Dystrophy and Spinal Muscular Atrophy. Doctoral thesis (Ph.D), UCL (University College London).

This list was generated on Mon Dec 2 00:05:02 2024 GMT.