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Number of items: 123.

A

Abdi, Suad S; De Haan, Michelle; Kirkham, Fenella J; (2023) Neuroimaging and Cognitive Function in Sickle Cell Disease: A Systematic Review. Children , 10 (3) , Article 532. 10.3390/children10030532. Green open access
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Abiramalatha, Thangaraj; Thanigainathan, Sivam; Ramaswamy, Viraraghavan Vadakkencherry; Pressler, Ronit; Brigo, Francesco; Hartmann, Hans; (2023) Anti-seizure medications for neonates with seizures. Cochrane Database of Systematic Reviews , 10 (10) , Article CD014967. 10.1002/14651858.CD014967.pub2.

Anthony, Karen; Ala, Pierpaolo; Catapano, Francesco; Meng, Jinhong; Domingos, Joana; Perry, Mark; Ricotti, Valeria; ... Muntoni, Francesco; + view all (2023) T Cell Responses to Dystrophin in a Natural History Study of Duchenne Muscular Dystrophy. Human Gene Therapy , 34 (9-10) pp. 439-448. 10.1089/hum.2022.166. Green open access
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Arfaie, Saman; Amin, Pouya; Kwan, Angela TH; Solgi, Arad; Sarabi, Ali; Hakak-Zargar, Benyamin; Brunette-Clément, Tristan; ... Fallah, Aria; + view all (2023) Long-term full-scale intelligent quotient outcomes following pediatric and childhood epilepsy surgery: A systematic review and meta-analysis. Seizure , 106 pp. 58-67. 10.1016/j.seizure.2023.01.020. Green open access
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Ayoub, LJ; Zhu, J; Lee, SJ; Mugisha, N; Patel, K; Duerden, EG; Stinson, J; ... McAndrews, MP; + view all (2023) Age-related effects on the anterior and posterior hippocampal volumes in 6–21 year olds: A model selection approach. Hippocampus , 33 (1) pp. 37-46. 10.1002/hipo.23487. Green open access
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Ayyar Gupta, Vandana; Pitchforth, Jacqueline M; Domingos, Joana; Ridout, Deborah; Iodice, Mario; Rye, Catherine; Chesshyre, Mary; ... iMDEX Consortium and the U.K. NorthStar Clinical Network; + view all (2023) Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy. PLoS One , 18 (4) , Article e0283669. 10.1371/journal.pone.0283669. Green open access
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B

Bara, VB; Schoeler, N; Carroll, JH; Simpson, Z; Cameron, T; (2023) Patient and carer perspectives on the use of video consultations in the management of the ketogenic diet for epilepsy. Epilepsy and Behavior , 145 , Article 109280. 10.1016/j.yebeh.2023.109280.

Bardol, Maddlie; Pan, Shan; Walker, Suellen; Standing, Joseph; Dawes, Joy; (2023) Pharmacokinetic pharmacodynamic modeling of analgesics and sedatives in children. Paediatric Anaesthesia , 33 (10) pp. 781-792. 10.1111/pan.14712. 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 (2023) Femur Fractures in 5 Individuals With Pantothenate Kinase-associated Neurodegeneration: The Role of Dystonia and Suggested Management. Journal of Pediatric Orthopaedics 10.1097/BPO.0000000000002555. (In press).

Bönnemann, Carsten G; Belluscio, Beth A; Braun, Serge; Morris, Carl; Singh, Teji; Muntoni, Francesco; (2023) Dystrophin Immunity after Gene Therapy for Duchenne's Muscular Dystrophy. The New England Journal of Medicine , 388 (24) pp. 2294-2296. 10.1056/NEJMc2212912. Green open access
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Bonthrone, Alexandra F; Green, Dido; Morgan, Angela T; Mankad, Kshitij; Clark, Christopher A; Liégeois, Frédérique J; (2023) Attention and motor profiles in children with developmental coordination disorder: A neuropsychological and neuroimaging investigation. Developmental Medicine & Child Neurology 10.1111/dmcn.15745. (In press). Green open access
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Budinger, Dimitri; (2023) Elucidating the role of brain manganese in health and disease using a patient-derived neuronal model. Doctoral thesis (Ph.D), UCL (University College London).

Burgod, C; Mazlan, M; Pant, S; Krishnan, V; Garegrat, R; Montaldo, P; Muraleedharan, P; ... Thayyil, S; + view all (2023) Duration of birth depression and neurodevelopmental outcomes after whole-body hypothermia for hypoxic ischemic encephalopathy in India, Sri Lanka and Bangladesh – an exploratory analysis of the HELIX trial. The Lancet Regional Health - Southeast Asia , Article 100284. 10.1016/j.lansea.2023.100284. (In press). Green open access
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C

Carrington, Glenn; Hau, Hoi Ting Abbi; Kosta, Sarah; Dugdale, Hannah F; Muntoni, Francesco; D'Amico, Adele; Van den Bergh, Peter YK; ... Ochala, Julien; + view all (2023) Human Skeletal myopathy myosin mutations disrupt myosin head sequestration. JCI Insight , 8 (21) , Article e172322. 10.1172/jci.insight.172322. Green open access
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Carroll, Jennifer H; Cross, J Helen; Hickson, Mary; Williams, Emma; Aldridge, Val; Collinson, Avril; (2023) A core outcome set for childhood epilepsy treated with ketogenic diet therapy (CORE-KDT study): International parent and health professional consensus. Epilepsia , 64 (4) pp. 919-936. 10.1111/epi.17513. Green open access
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Casey, Triona; Thachuthara, Aoife Jones; Fogarty, Leanna; Livingstone, Vicki; De Haan, Michelle; Marlow, Neil; Kiely, Mairead E; (2023) Validation of a touchscreen assessment tool to screen for cognitive delay at 24 months. Developmental Medicine & Child Neurology 10.1111/dmcn.15555. Green open access
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Chari, A; Sedlacik, J; Seunarine, K; Piper, RJ; Hales, P; Shmueli, K; Mankad, K; ... Carmichael, DW; + view all (2023) Epileptogenic Tubers Are Associated with Increased Kurtosis of Susceptibility Values: A Combined Quantitative Susceptibility Mapping and Stereoelectroencephalography Pilot Study. American Journal of Neuroradiology 10.3174/ajnr.A7929. (In press). Green open access
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Chari, Aswin; Adler, Sophie; Wagstyl, Konrad; Seunarine, Kiran; Tahir, M Zubair; Moeller, Friederike; Thornton, Rachel; ... Tisdall, Martin M; + view all (2023) Lesion detection in epilepsy surgery: Lessons from a prospective evaluation of a machine learning algorithm. Developmental Medicine & Child Neurology 10.1111/dmcn.15727. (In press). Green open access
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Chieffo, Daniela PR; Moriconi, Federica; Pane, Marika; Lucibello, Simona; Ferraroli, Elisabetta; Norcia, Giulia; Ricci, Martina; ... Mercuri, Eugenio; + view all (2023) A Longitudinal Follow-Up Study of Intellectual Function in Duchenne Muscular Dystrophy over Age: Is It Really Stable? Journal of Clinical Medicine , 12 (2) , Article 403. 10.3390/jcm12020403. 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 (2023) Risdiplam in Patients Previously Treated with Other Therapies for Spinal Muscular Atrophy: An Interim Analysis from the JEWELFISH Study. Neurology and Therapy , 12 pp. 543-557. 10.1007/s40120-023-00444-1. Green open access
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D

D'Gama, Alissa M; Mulhern, Sarah; Sheidley, Beth R; Boodhoo, Fadil; Buts, Sarah; Chandler, Natalie J; Cobb, Joanna; ... McTague, Amy; + view all (2023) Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study. The Lancet Neurology , 22 (9) pp. 812-825. 10.1016/S1474-4422(23)00246-6. Green open access
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Defelippe, Victoria M; J M W van Thiel, Ghislaine; Otte, Willem M; Schutgens, Roger EG; Stunnenberg, Bas; Cross, Helen J; O'Callaghan, Finbar; ... Braun, Kees PJ; + view all (2023) Toward responsible clinical n-of-1 strategies for rare diseases. Drug Discovery Today , 28 (10) , Article 103688. 10.1016/j.drudis.2023.103688. Green open access
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Devito, LG; Lionello, VM; Muntoni, F; Tedesco, FS; Healy, L; (2023) Generation of an MTM1-mutant iPSC line (CRICKi008-A) from an individual with X-linked myotubular myopathy (XLMTM). Stem Cell Research , 69 , Article 103079. 10.1016/j.scr.2023.103079. Gold open access
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Doisy, Mathilde; Vacca, Ophélie; Fergus, Claire; Gileadi, Talia; Verhaeg, Minou; Saoudi, Amel; Tensorer, Thomas; ... Goyenvalle, Aurélie; + view all (2023) Networking to Optimize Dmd exon 53 Skipping in the Brain of mdx52 Mouse Model. Biomedicines , 11 (12) , Article 3243. 10.3390/biomedicines11123243. Green open access
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Dunaway Young, S; McGrattan, K; Johnson, E; van der Heul, M; Duong, T; Bakke, M; Werlauff, U; ... Lofra, RM; + view all (2023) Development of an International SMA Bulbar Assessment for Inter-professional Administration. Journal of neuromuscular diseases , 10 (4) pp. 639-652. 10.3233/JND-221672. Green open access
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E

Elward, Rachael; Limond, Jennifer; Chareyron, Loïc J; Ethapemi, Janice; Vargha-Khadem, Faraneh; (2023) Using recognition testing to support semantic learning in developmental amnesia. Neuropsychological Rehabilitation pp. 1-20. 10.1080/09602011.2023.2275825. (In press). Green open access
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Eriksson, Maria H; Ripart, Mathilde; Piper, Rory J; Moeller, Friederike; Das, Krishna B; Eltze, Christin; Cooray, Gerald; ... Wagstyl, Konrad; + view all (2023) Predicting seizure outcome after epilepsy surgery: do we need more complex models, larger samples, or better data? Epilepsia , 64 (8) pp. 2014-2026. 10.1111/epi.17637. Green open access
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Eriksson, Maria H; Whitaker, Kirstie J; Booth, John; Piper, Rory J; Chari, Aswin; Martin Sanfilippo, Patricia; Caballero, Ana Perez; ... Baldeweg, Torsten; + view all (2023) Pediatric epilepsy surgery from 2000 to 2018: Changes in referral and surgical volumes, patient characteristics, genetic testing, and postsurgical outcomes. Epilepsia 10.1111/epi.17670. (In press). Green open access
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Eriksson, Maria Helena; (2023) Clinical and cognitive outcomes after neurosurgical treatment for epilepsy in children. Doctoral thesis (Ph.D), UCL (University College London).

F

Falzarano, Maria Sofia; Mietto, Martina; Fortunato, Fernanda; Farnè, Marianna; Martini, Fernanda; Ala, Pierpaolo; Selvatici, Rita; ... Ferlini, Alessandra; + view all (2023) mRNA in situ hybridization exhibits unbalanced nuclear/cytoplasmic dystrophin transcript repartition in Duchenne myogenic cells and skeletal muscle biopsies. Scientific Reports , 13 , Article 15942. 10.1038/s41598-023-43134-6. Green open access
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Fan, Xue-Ru; Wang, Yin-Shan; Chang, Da; Yang, Ning; Rong, Meng-Jie; Zhang, Zhe; He, Ye; ... Zuo, Xi-Nian; + view all (2023) A longitudinal resource for population neuroscience of school-age children and adolescents in China. Scientific Data , 10 , Article 545. 10.1038/s41597-023-02377-8. Green open access
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Fleming, JE; Benjaber, M; Toth, R; Zamora, M; Landin, K; Kavoosi, A; Ottoway, J; ... Denison, T; + view all (2023) An embedded intracranial seizure monitor for objective outcome measurements and rhythm identification. Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference , 2023 pp. 1-6. 10.1109/EMBC40787.2023.10340850. (In press). Green open access
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Freiburg, Carolin D; Solomon-Degefa, Herimela; Freiburg, Patrick; Mörgelin, Matthias; Bolduc, Véronique; Schmitz, Sebastian; Ala, Pierpaolo; ... Wagener, Raimund; + view all (2023) The UCMD-Causing COL6A1 (c:930 + 189C > T) Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI α1 Chains. Human Mutation , 2023 , Article 6892763. 10.1155/2023/6892763. Green open access
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G

Gan, Hoong-Wei; Morillon, Paul; Albanese, Assunta; Aquilina, Kristian; Chandler, Chris; Chang, Yen-Ching; Drimtzias, Evangelos; ... Spoudeas, Helen Alexandra; + view all (2023) National UK guidelines for the management of paediatric craniopharyngioma. The Lancet Diabetes & Endocrinology , 11 (9) pp. 694-706. 10.1016/S2213-8587(23)00162-6. Green open access
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Gogou, Maria; Pujar, Suresh; Nemani, Tarishi; Chiang, Chunyi; Simpson, Zoe; Hardy, Isobel; Schoeler, Natasha; ... Eltze, Christin; + view all (2023) Antiseizure medication reduction and withdrawal in children with drug-resistant epilepsy after starting the ketogenic diet. Developmental Medicine & Child Neurology , 65 (3) pp. 424-430. 10.1111/dmcn.15377. Green open access
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Gurung, Sonam; Karamched, Saketh; Perocheau, Dany; Seunarine, Kiran K; Baldwin, Tom; Al-Rashidi, Haya; Touramanidou, Loukia; ... Baruteau, Julien; + view all (2023) The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria. Journal of Inherited Metabolic Disease 10.1002/jimd.12691. (In press). Green open access
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H

Hamdule, Shifa; Kirkham, Fenella J; (2023) Brain Volumes and Cognition in Patients with Sickle Cell Anaemia: A Systematic Review and Meta-Analysis. Children , 10 (8) , Article 1360. 10.3390/children10081360. Green open access
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Hamdule, Shifa; Kölbel, Melanie; Stotesbury, Hanne; Murdoch, Russell; Clayden, Jonathan D; Sahota, Sati; Hood, Anna Marie; ... Kirkham, Fenella Jane; + view all (2023) Effects of regional brain volumes on cognition in sickle cell anemia: A developmental perspective. Frontiers in Neurology , 14 , Article 1101223. 10.3389/fneur.2023.1101223. Green open access
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Harrer, Philip; Skorvanek, Matej; Kittke, Volker; Dzinovic, Ivana; Borngraeber, Friederike; Thomsen, Mirja; Mandel, Vanessa; ... Zech, Michael; + view all (2023) Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction. Movement Disorders 10.1002/mds.29562. Green open access
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Hill, Matilda; Iro, Mildred; Sadarangani, Manish; Absoud, Michael; Cantrell, Liberty; Chong, Kling; Clark, Christopher; ... The IgNiTE study team; + view all (2023) Intravenous immunoglobulin treatment in childhood encephalitis (IgNiTE): a randomised controlled trial. BMJ open , 13 (11) , Article e072134. 10.1136/bmjopen-2023-072134. Green open access
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Himmelreich, Nastassja; Bertoldi, Mariarita; Alfadhel, Majid; Alghamdi, Malak Ali; Anikster, Yair; Bao, Xinhua; Bashiri, Fahad A; ... Blau, Nenad; + view all (2023) Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes. Molecular Genetics and Metabolism , 139 (3) , Article 107624. 10.1016/j.ymgme.2023.107624. Green open access
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J

Jain, Dipty; Kirkham, Fenella J; (2023) Laboratory Associations With Transcranial Doppler Categories in Sickle Cell Disease. Indian Pediatrics , 60 (8) pp. 622-623. 10.1007/s13312-023-2957-3.

Johnson, Emma C; Atkinson, Patricia; Muggeridge, Amy; Chan, Samantha; Helen Cross, J; Reilly, Colin; (2023) Perceived impact of epilepsy on sleep: Views of children with epilepsy, parents and school staff. Epilepsy and Behavior , 138 , Article 109026. 10.1016/j.yebeh.2022.109026. Green open access
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K

Kadirvelu, Balasundaram; Gavriel, Constantinos; Nageshwaran, Sathiji; Chan, Jackson Ping Kei; Nethisinghe, Suran; Athanasopoulos, Stavros; Ricotti, Valeria; ... Faisal, A Aldo; + view all (2023) A wearable motion capture suit and machine learning predict disease progression in Friedreich's ataxia. Nature Medicine , 29 (1) pp. 86-94. 10.1038/s41591-022-02159-6. Green open access
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Kaiyrzhanov, Rauan; Rad, Aboulfazl; Lin, Sheng-Jia; Bertoli-Avella, Aida; Kallemeijn, Wouter W; Godwin, Annie; Zaki, Maha S; ... Maroofian, Reza; + view all (2023) Bi-allelic ACBD6 variants lead to a neurodevelopmental syndrome with progressive and complex movement disorders. Brain 10.1093/brain/awad380. (In press). Green open access
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Kelleher, Stephanie C; Kirkham, Fenella J; Hood, Anna M; (2023) Executive Function and Processing Speed in Children Living with Sickle Cell Anemia. Children , 10 (10) , Article 1585. 10.3390/children10101585. Green open access
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Khamis, Sonia; Mitakidou, Maria R; Champion, Michael; Goyal, Sushma; Jones, Rachel L; Siddiqui, Ata; Sabanathan, Saraswathy; ... Papandreou, Apostolos; + view all (2023) Clinical Reasoning: A Teenage Girl With Progressive Hyperkinetic Movements, Seizures, and Encephalopathy. Neurology , 100 (1) pp. 30-37. 10.1212/WNL.0000000000201385. Green open access
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Kirkham, Fenella J; Clayden, Jonathan D; Stotesbury, Hanne; Kawadler, Jamie M; Slee, April; Koelbel, Melanie; Saunders, Dawn E; ... Clark, Chris A; + view all (2023) Structural connectivity mediates the relationship between blood oxygenation and cognitive function in sickle cell anemia. Blood Advances , 7 (11) pp. 2297-2308. 10.1182/bloodadvances.2021006751. Green open access
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Knöpfel, Nicole; Zecchin, Davide; Richardson, Hanna; Polubothu, Satyamaanasa; Barberan-Martin, Sara; Cullup, Thomas; Gholam, Karolina; ... Kinsler, Veronica A; + view all (2023) GNAQ/GNA11 Mosaicism Is Associated with Abnormal Serum Calcium Indices and Microvascular Neurocalcification. Journal of Investigative Dermatology 10.1016/j.jid.2023.09.008. (In press). Green open access
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Koelbel, Melanie; Hamdule, Shifa; Kirkham, Fenella J; Stotesbury, Hanne; Hood, Anna Marie; Dimitriou, Dagmara; (2023) Mind the gap: trajectory of cognitive development in young individuals with sickle cell disease: a cross-sectional study. Frontiers in Neurology , 14 , Article 1087054. 10.3389/fneur.2023.1087054. Green open access
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Koens, Lisette H; Klamer, Marrit R; Sival, Deborah A; Balint, Bettina; Bhatia, Kailash P; Contarino, Maria Fiorella; van Egmond, Martje E; ... Tijssen, Marina AJ; + view all (2023) A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism. Movement Disorders 10.1002/mds.29332. (In press). Green open access
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L

Lapidaire, Winok; Clayden, Jonathan D; Fewtrell, Mary S; Clark, Christopher A; (2023) Increased white matter fibre dispersion and lower IQ scores in adults born preterm. Human Brain Mapping 10.1002/hbm.26545. (In press). Green open access
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Lu, S; Champion, H; Mills, N; Simpson, Z; Whiteley, VJ; Schoeler, NE; (2023) Impact of ketogenic diet therapy on growth in children with epilepsy. Epilepsy Research , 190 , Article 107076. 10.1016/j.eplepsyres.2023.107076. Green open access
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M

Maresh, Kate; Papageorgiou, Andriani; Ridout, Deborah; Harrison, Neil A; Mandy, William; Skuse, David; Muntoni, Francesco; (2023) Startle responses in Duchenne muscular dystrophy: a novel biomarker of brain dystrophin deficiency. Brain , 146 (1) pp. 252-265. 10.1093/brain/awac048. Green open access
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Maroofian, Reza; Kaiyrzhanov, Rauan; Cali, Elisa; Zamani, Mina; Zaki, Maha S; Ferla, Matteo; Tortora, Domenico; ... Severino, Mariasavina; + view all (2023) Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders. Brain , 146 (12) pp. 5031-5043. 10.1093/brain/awad257. Green open access
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Maurer, Constance; Boleti, Olga; Najarzadeh Torbati, Paria; Norouzi, Farzaneh; Fowler, Anna Nicole Rebekah; Minaee, Shima; Salih, Khalid Hama; ... Jamshidi, Yalda; + view all (2023) Genetic Insights from Consanguineous Cardiomyopathy Families. Genes , 14 (1) , Article 182. 10.3390/genes14010182. Green open access
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Mercuri, E; Seferian, AM; Servais, L; Deconinck, N; Stevenson, H; Ni, X; Zhang, W; ... Muntoni, F; + view all (2023) Safety, tolerability and pharmacokinetics of eteplirsen in young boys aged 6-48 months with Duchenne muscular dystrophy amenable to exon 51 skipping. Neuromuscular Disorders , 33 (6) pp. 476-483. 10.1016/j.nmd.2023.03.008. Green open access
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Mercuri, Eugenio; Osorio, Andrés Nascimento; Muntoni, Francesco; Buccella, Filippo; Desguerre, Isabelle; Kirschner, Janbernd; Tulinius, Már; ... STRIDE and CINRG DNHS, investigators; + view all (2023) Safety and effectiveness of ataluren in patients with nonsense mutation DMD in the STRIDE Registry compared with the CINRG Duchenne Natural History Study (2015-2022): 2022 interim analysis. Journal of Neurology pp. 1-18. 10.1007/s00415-023-11687-1. (In press). Green open access
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Mikellides, G; Michael, P; Psalta, L; Stefani, A; Schuhmann, T; Sack, AT; (2023) Accelerated intermittent theta burst stimulation in smoking cessation: No differences between active and placebo stimulation when using advanced placebo coil technology. A double-blind follow-up study. International Journal of Clinical and Health Psychology , 23 (2) , Article 100351. 10.1016/j.ijchp.2022.100351. Green open access
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Montagnese, Federica; de Valle, Katy; Lemmers, Richard JLF; Mul, Karlien; Dumonceaux, Julie; Voermans, Nicol; (2023) 268th ENMC workshop - Genetic diagnosis, clinical classification, outcome measures, and biomarkers in Facioscapulohumeral Muscular Dystrophy (FSHD): Relevance for clinical trials. Neuromuscular Disorders , 33 (5) pp. 447-462. 10.1016/j.nmd.2023.04.005. Green open access
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Morgan, Angela T; Scerri, Thomas S; Vogel, Adam P; Reid, Christopher A; Quach, Mara; Jackson, Victoria E; McKenzie, Chaseley; ... Hildebrand, Michael S; + view all (2023) Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40. Brain , 146 (12) pp. 5086-5097. 10.1093/brain/awad314.

Muntoni, Francesco; Signorovitch, James; Sajeev, Gautam; Lane, Henry; Jenkins, Madeline; Dieye, Ibrahima; Ward, Susan J; ... Aartsma-Rus, Annemieke; + view all (2023) DMD Genotypes and Motor Function in Duchenne Muscular Dystrophy: A Multi-institution Meta-analysis With Implications for Clinical Trials. Neurology , 100 (15) e1540-e1554. 10.1212/WNL.0000000000201626. Green open access
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Muntoni, Francesco; Straub, Volker; Servais, Laurent; Mercuri, Eugenio; (2023) Letter to the Editor: In response to P.R. Clemens et al., Efficacy and Safety of Viltolarsen in Boys with Duchenne Muscular Dystrophy: Results From the Phase 2, Open-Label, 4-Year Extension Study, and Long-Term Functional Efficacy and Safety of Viltolarsen in Patients with Duchenne Muscular Dystrophy. Journal of Neuromuscular Diseases , 10 (6) pp. 1151-1153. 10.3233/JND-239004. Green open access
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N

Naarding, Karin; Stimpson, Georgia; Ward, Susan J; Goemans, Nathalie; McDonald, Craig; Mercuri, Eugenio; Muntoni, Francesco; (2023) 269th ENMC International Workshop:10 years of Clinical trials in DMD – What have we learned? 9–11 December 2022, The Netherlands. Neuromuscular Disorders 10.1016/j.nmd.2023.10.003. (In press).

Ng, Joanne; Barral, Serena; Waddington, Simon N; Kurian, Manju A; (2023) Dopamine Transporter Deficiency Syndrome (DTDS): Expanding the Clinical Phenotype and Precision Medicine Approaches. Cells , 12 (13) , Article 1737. 10.3390/cells12131737. Green open access
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Ng, Joanne; Barral, Serena; Waddington, Simon N; Kurian, Manju A; (2023) Gene Therapy for Dopamine Dyshomeostasis: From Parkinson's to Primary Neurotransmitter Diseases. Movement Disorders 10.1002/mds.29416. (In press). Green open access
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O

O'Connor, Graeme; Edel, Lisa; Raquq, Sarah; Bowerman, Melissa; Szmurlo, Agnieszka; Simpson, Zoe; Hardy, Isobel; ... Baranello, Giovanni; + view all (2023) Open-labelled study to monitor the effect of an amino acid formula on symptom management in children with spinal muscular atrophy type I: The SMAAF pilot study. Nutrition in Clinical Practice , 38 (4) pp. 871-880. 10.1002/ncp.10940. Green open access
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Osborne, John P; Edwards, Stuart W; Alber, Fabienne Dietrich; Hancock, Eleanor; Johnson, Anthony L; Kennedy, Colin R; Likeman, Marcus; ... O'Callaghan, FinbarJ K; + view all (2023) Prednisolone or tetracosactide depot for infantile epileptic spasms syndrome? A prospective analysis of data embedded within two randomised controlled trials. European Journal of Paediatric Neurology , 42 pp. 110-116. 10.1016/j.ejpn.2022.12.007. Green open access
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Oskoui, Maryam; Day, John W; Deconinck, Nicolas; Mazzone, Elena S; Nascimento, Andres; Saito, Kayoko; Vuillerot, Carole; ... SUNFISH Working Group; + view all (2023) Two-year efficacy and safety of risdiplam in patients with type 2 or non-ambulant type 3 spinal muscular atrophy (SMA). Journal of Neurology 10.1007/s00415-023-11560-1. (In press). Green open access
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P

Papandreou, Apostolos; Luft, Christin; Barral, Serena; Kriston-Vizi, Janos; Kurian, Manju A; Ketteler, Robin; (2023) Automated High-Content Imaging in iPSC-derived Neuronal Progenitors. SLAS Discovery 10.1016/j.slasd.2022.12.002. (In press). Green open access
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Pavel, Andreea M; O'Toole, John M; Proietti, Jacopo; Livingstone, Vicki; Mitra, Subhabrata; Marnane, William P; Finder, Mikael; ... ANSeR Consortium, .; + view all (2023) Machine learning for the early prediction of infants with electrographic seizures in neonatal hypoxic-ischaemic encephalopathy. Epilepsia , 64 (2) pp. 456-468. 10.1111/epi.17468. Green open access
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Peltola, ME; Leitinger, M; Halford, JJ; Vinayan, KP; Kobayashi, K; Pressler, RM; Mindruta, I; ... Beniczky, S; + view all (2023) Routine and sleep EEG: Minimum recording standards of the International Federation of Clinical Neurophysiology and the International League Against Epilepsy. Epilepsia , 64 (3) pp. 602-618. 10.1111/epi.17448. Green open access
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Peltola, ME; Leitinger, M; Halford, JJ; Vinayan, KP; Kobayashi, K; Pressler, RM; Mindruta, I; ... Beniczky, S; + view all (2023) Routine and sleep EEG: Minimum recording standards of the International Federation of Clinical Neurophysiology and the International League Against Epilepsy. Clinical Neurophysiology , 147 pp. 108-120. 10.1016/j.clinph.2023.01.002. Green open access
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Perry, Luke; Stimpson, Georgia; Singh, Leeha; Morrow, Jasper M; Shah, Sachit; Baranello, Giovanni; Muntoni, Francesco; (2023) Muscle magnetic resonance imaging involvement patterns in nemaline myopathies. Ann Clin Transl Neurol 10.1002/acn3.51816. Green open access
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Piper, Rory J; Dasgupta, Debayan; Eriksson, Maria H; Ripart, Mathilde; Moosa, Almira; Chari, Aswin; Seunarine, Kiran K; ... Baldeweg, Torsten; + view all (2023) Extent of piriform cortex resection in children with temporal lobe epilepsy. Annals of Clinical and Translational Neurology 10.1002/acn3.51852. (In press). Green open access
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Pipis, Menelaos; Won, Seongsik; Poh, Roy; Efthymiou, Stephanie; Polke, James M; Skorupinska, Mariola; Blake, Julian; ... Reilly, Mary M; + view all (2023) Post-transcriptional microRNA repression of PMP22 dose in severe Charcot-Marie-Tooth disease type 1. Brain , Article awad203. 10.1093/brain/awad203. (In press). Green open access
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Reid, Kimberley M; Sanchez-Nieto, Juan Miguel; Terrasse, Sandra; Faccenda, Danilo; Pernaute, Barbara; Campanella, Michelangelo; Rodriguez, Tristan A; (2023) MicroRNAs Regulate Ca2+ Homeostasis in Murine Embryonic Stem Cells. Cells , 12 (15) , Article 1957. 10.3390/cells12151957. Green open access
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Ricotti, Valeria; Kadirvelu, Balasundaram; Selby, Victoria; Festenstein, Richard; Mercuri, Eugenio; Voit, Thomas; Faisal, A Aldo; (2023) Wearable full-body motion tracking of activities of daily living predicts disease trajectory in Duchenne muscular dystrophy. Nature Medicine , 29 (1) pp. 95-103. 10.1038/s41591-022-02045-1. Green open access
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Saini, Maneet Kaur; (2023) Cognitive, language, and psychosocial outcomes in children with complex congenital heart disease: A longitudinal cohort study from infancy to early school years. Doctoral thesis (Ph.D), UCL (University College London). Green open access
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Salim, Omar; Chari, Aswin; Zvi, Ido Ben; Batchelor, Rachel; Baldeweg, Torsten; Helen Cross, J; Tisdall, Martin; (2023) Clinician views regarding early surgery for paediatric epilepsy. Seizure: European Journal of Epilepsy , 113 pp. 80-85. 10.1016/j.seizure.2023.11.011. Green open access
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X

Xu, Y; Moulding, D; Jin, W; Beggs, S; (2023) Microglial phagocytosis mediates long-term restructuring of spinal GABAergic circuits following early life injury. Brain, Behavior, and Immunity , 111 pp. 127-137. 10.1016/j.bbi.2023.04.001. Green open access
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Z

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This list was generated on Wed May 8 17:26:22 2024 BST.