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Number of items: 165.

A

Abdullahi, Shehu U; Jibir, Binta W; Bello-Manga, Halima; Gambo, Safiya; Inuwa, Hauwa; Tijjani, Aliyu G; Idris, Nura; ... DeBaun, Michael R; + view all (2022) Hydroxyurea for primary stroke prevention in children with sickle cell anaemia in Nigeria (SPRING): a double-blind, multicentre, randomised, phase 3 trial. The Lancet Haematology , 9 (1) E26-E37. 10.1016/S2352-3026(21)00368-9. Green open access
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Abiramalatha, T; Thanigainathan, S; Ramaswamy, VV; Pressler, R; Brigo, F; Hartmann, H; (2022) Antiseizure medications for neonates with seizures. Cochrane Database of Systematic Reviews , 2022 (3) , Article CD014967. 10.1002/14651858.CD014967. Green open access
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Allen, Richard J; Atkinson, Amy L; Vargha-Khadem, Faraneh; Baddeley, Alan D; (2022) Intact high-resolution working memory binding in a patient with developmental amnesia and selective hippocampal damage. Hippocampus 10.1002/hipo.23452. (In press). Green open access
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Alves, CAPF; Sherbini, O; D'Arco, F; Steel, D; Kurian, MA; Radio, FC; Ferrero, GB; ... Vanderver, A; + view all (2022) Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors. American Journal of Neuroradiology , 43 (7) pp. 1048-1053. 10.3174/ajnr.A7555. Green open access
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Alves, R; Henriques, RN; Kerkelä, L; Chavarrías, C; Jespersen, SN; Shemesh, N; (2022) Correlation Tensor MRI deciphers underlying kurtosis sources in stroke. NeuroImage , 247 , Article 118833. 10.1016/j.neuroimage.2021.118833. Green open access
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Amin, Sam; Monaghan, Marie; Aledo-Serrano, Angel; Bahi-Buisson, Nadia; Chin, Richard F; Clarke, Angus J; Cross, J Helen; ... Benke, Tim A; + view all (2022) International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder. Frontiers in Neurology , 13 , Article 874695. 10.3389/fneur.2022.874695. Green open access
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Ampomah, Mary A; Drake, Jermon A; Anum, Adote; Amponsah, Benjamin; Dei-Adomakoh, Yvonne; Anie, Kofi; Mate-Kole, Christopher C; ... Kirkham, Fenella J; + view all (2022) A case-control and seven-year longitudinal neurocognitive study of adults with sickle cell disease in Ghana. British Journal of Haematology 10.1111/bjh.18386. (In press). Green open access
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Anakor, Ekene; Milla, Vanessa; Connolly, Owen; Martinat, Cecile; Pradat, Pierre Francois; Dumonceaux, Julie; Duddy, William; (2022) The Neurotoxicity of Vesicles Secreted by ALS Patient Myotubes Is Specific to Exosome-Like and Not Larger Subtypes. Cells , 11 (5) , Article 845. 10.3390/cells11050845. Green open access
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Aquilina, K; Chakrapani, A; Carr, L; Kurian, MA; Hargrave, D; (2022) Convection-Enhanced Delivery in Children: Techniques and Applications. Advances and Technical Standards in Neurosurgery , 45 pp. 199-228. 10.1007/978-3-030-99166-1_6. Green open access
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Arigliani, Michele; Kirkham, Fenella J; Sahota, Sati; Riley, Mollie; Liguoro, Ilaria; Castriotta, Luigi; Gupta, Atul; ... Aurora, Paul; + view all (2022) Lung Clearance Index May Detect Early Peripheral Lung Disease in Sickle Cell Anemia. Annals of the American Thoracic Society , 19 (9) pp. 1507-1515. 10.1513/AnnalsATS.202102-168OC. Green open access
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Arthurs, OJ; van Rijn, RR; Stafrace, S; Rosendahl, K; (2022) Point-of-care ultrasound: reply to Andronikou et al. and Gyorgyi et al. Pediatric Radiology , 52 pp. 610-611. 10.1007/s00247-021-05183-9. Green open access
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Asadi-Pooya, Ali A; Patel, Archana A; Trinka, Eugen; Mazurkiewicz-Beldzinska, Maria; Cross, J Helen; Welty, Timothy E; (2022) Recommendations for treatment strategies in people with epilepsy during times of shortage of antiseizure medications. Epileptic Disorders , 24 (5) 10.1684/epd.2022.1468. (In press). Green open access
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Austin, Joan K; Birbeck, Gretchen; Parko, Karen; Kwon, Churl-Su; Fernandes, Paula T; Braga, Patricia; Fiest, Kirsten M; ... Jette, Nathalie; + view all (2022) Epilepsy-related stigma and attitudes: Systematic review of screening instruments and interventions - Report by the International League Against Epilepsy Task Force on Stigma in Epilepsy. Epilepsia , 63 (3) pp. 598-628. 10.1111/epi.17133. Green open access
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B

Babiker, Mohamed OE; Kurian, Manju A; Suleiman, Jehan; (2022) Case report: First case report of an Emirati child with a novel gene variant causing aromatic L-amino acid decarboxylase deficiency. Frontiers in Pediatrics , 10 , Article 964201. 10.3389/fped.2022.964201. Green open access
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Barral, Serena; Xiang, Yangfei; Birey, Fikri; (2022) Improving in vitro modeling of human brain with future brain organoids. Frontiers in Molecular Neuroscience , 15 , Article 997119. 10.3389/fnmol.2022.997119. Green open access
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Ben Zvi, Ido; Enright, Noelle; D'arco, Felice; Tahir, M Zubair; Chari, Aswin; Cross, J Helen; Eltze, Christin; (2022) Children with seizures and radiological diagnosis of focal cortical dysplasia: can drug-resistant epilepsy be predicted earlier? Epileptic Disorders , 24 (1) pp. 111-122. 10.1684/epd.2021.1368. Green open access
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Bianchi, ML; Vai, S; Baranello, G; Broggi, F; Judex, S; Hangartner, T; Rubin, C; (2022) Low-Intensity Vibration Protects the Weight-Bearing Skeleton and Suppresses Fracture Incidence in Boys With Duchenne Muscular Dystrophy: A Prospective, Randomized, Double-Blind, Placebo-Controlled Clinical Trial. JBMR Plus , Article e10685. 10.1002/jbm4.10685. (In press). Green open access
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Bourdon, A; François, V; Zhang, L; Lafoux, A; Fraysse, B; Toumaniantz, G; Larcher, T; ... Le Guiner, C; + view all (2022) Evaluation of the dystrophin carboxy-terminal domain for micro-dystrophin gene therapy in cardiac and skeletal muscles in the DMDmdx rat model. Gene Therapy 10.1038/s41434-022-00317-6. (In press). Green open access
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Bourke, Niall J; Demarchi, Célia; De Simoni, Sara; Samra, Ravjeet; Patel, Maneesh C; Kuczynski, Adam; Mok, Quen; ... Sharp, David J; + view all (2022) Brain volume abnormalities and clinical outcomes following paediatric traumatic brain injur. Brain , Article awac130. 10.1093/brain/awac130. (In press). Green open access
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Brayson, Daniel; Shanahan, Catherine M; (2022) Lamin A precursor localizes to the Z-disc of sarcomeres in the heart and is dynamically regulated in muscle cell differentiation. Philosophical Transactions of the Royal Society B: Biological Sciences , 377 (1864) 10.1098/rstb.2021.0490. Green open access
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Brown, Kate L; Agrawal, Shruti; Kirschen, Matthew P; Traube, Chani; Topjian, Alexis; Pressler, Ronit; Hahn, Cecil D; ... Tasker, Robert C; + view all (2022) The brain in pediatric critical care: unique aspects of assessment, monitoring, investigations, and follow-up. Intensive Care Medicine , 48 pp. 535-547. 10.1007/s00134-022-06683-4. Green open access
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Brunet Garcia, Laia; Hajra, Ankita; Field, Ella; Wacher, Joseph; Walsh, Helen; Norrish, Gabrielle; Manzur, Adnan; ... Cervi, Elena; + view all (2022) Cardiac Manifestations of Myotonic Dystrophy in a Pediatric Cohort. Frontiers in Pediatrics , 10 , Article 910660. 10.3389/fped.2022.910660. Green open access
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Brunklaus, Andreas; Bruenger, Tobias; Feng, Tony; Fons, Carmen; Lehikoinen, Anni; Panagiotakaki, Eleni; Vintan, Mihaela-Adela; ... Cestele, Sandrine; + view all (2022) The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications. Brain , 145 (11) pp. 3816-3831. 10.1093/brain/awac210. Green open access
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Bruno, Claudia; Moumneh, Rayan; Sauvage, Emilie; Stronach, Lynsey; Waters, Kathryn; Simcock, Ian; Arthurs, Owen; ... Shroff, Rukshana; + view all (2022) Central Venous Catheter Malfunction in Children: A Bioengineering Approach. Clinical Journal of the American Society of Nephrology , 17 (7) , Article CJN.01470222. 10.2215/CJN.01470222. Green open access
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C

Carroll, Jennifer H; Cross, J Helen; Hickson, Mary; Williams, Emma; Aldridge, Valerie; Collinson, Avril; (2022) The CORE-KDT study: a mixed methods protocol to establish core outcomes for refractory childhood epilepsy treated with ketogenic diet therapy. Trials , 23 , Article 675. 10.1186/s13063-022-06629-7. Green open access
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Carroll, Jennifer H; Martin-McGill, Kirsty J; Cross, J Helen; Hickson, Mary; Williams, Emma; Aldridge, Val; Collinson, Avril; (2022) Core outcome set development for childhood epilepsy treated with ketogenic diet therapy: results of a scoping review and parent interviews. Seizure , 99 pp. 54-67. 10.1016/j.seizure.2022.05.009. Green open access
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Castro-Villablanca, Felipe; Moeller, Friederike; Pujar, Suresh; D'Arco, Felice; Scott, Rod C; Tahir, M Zubair; Tisdall, Martin; ... Eltze, Christin; + view all (2022) Seizure outcome determinants in children after surgery for single unilateral lesions on MRI: role of preoperative ictal and interictal EEG. Epilepsia , 63 (12) pp. 3168-3179. 10.1111/epi.17425. Green open access
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Chalia, Maria; Hartmann, Hans; Pressler, Ronit; (2022) Practical Approaches to the Treatment of Neonatal Seizures. Current Treatment Options in Neurology , 24 pp. 111-127. 10.1007/s11940-022-00711-w. Green open access
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Chan, AYL; Ge, M; Harrop, E; Johnson, M; Oulton, K; Skene, SS; Wong, I; ... LIOSSI, C; + view all (2022) Pain assessment tools in paediatric palliative care: A systematic review of psychometric properties and recommendations for clinical practice. Palliative Medicine , 36 (1) pp. 30-43. 10.1177/02692163211049309. Green open access
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Chari, Aswin; Seunarine, Kiran K; He, Xiaosong; Tisdall, Martin M; Clark, Christopher A; Bassett, Dani S; Scott, Rod C; (2022) Drug-resistant focal epilepsy in children is associated with increased modal controllability of the whole brain and epileptogenic regions. Communications Biology , 5 , Article 394. 10.1038/s42003-022-03342-8. Green open access
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Chesshyre, Mary; Ridout, Deborah; Hashimoto, Yasumasa; Ookubo, Yoko; Torelli, Silvia; Maresh, Kate; Ricotti, Valeria; ... Muntoni, Francesco; + view all (2022) Investigating the role of dystrophin isoform deficiency in motor function in Duchenne muscular dystrophy. Journal of Cachexia, Sarcopenia and Muscle 10.1002/jcsm.12914. Green open access
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Choi, Eun Jung; Westmacott, Robyn; Kirkham, Fenella J; Robertson, Amanda; Muthusami, Prakash; Shroff, Manohar; Moharir, Mahendranath; ... Dlamini, Nomazulu; + view all (2022) Fronto-Parietal and White Matter Haemodynamics Predict Cognitive Outcome in Children with Moyamoya Independent of Stroke. Translational Stroke Research , 13 pp. 757-773. 10.1007/s12975-022-01003-w. Green open access
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Cif, Laura; Demailly, Diane; Vasques, Xavier; de Verbizier, Delphine; Coubes, Philippe; Gorman, Kathleen; Kurian, Manju A; (2022) Freezing of Gait as a Complication of Pallidal Deep Brain Stimulation in DYT-KMT2B Patients with Evidence of Striatonigral Degeneration. Movement Disorders Clinical Practice 10.1002/mdc3.13519. (In press). Green open access
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Cohen, Nathan T; You, Xiaozhen; Krishnamurthy, Manu; Sepeta, Leigh N; Zhang, Anqing; Oluigbo, Chima; Whitehead, Matthew T; ... Multi-centre Epilepsy Lesion Detection (MELD) Project, .; + view all (2022) Networks underlie temporal onset of dysplasia-related epilepsy- a MELD study. Annals of Neurology , 92 (3) pp. 503-511. 10.1002/ana.26442. Green open access
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Cooper, Hannah E; Halliday, Lorna F; Bamiou, Doris-Eva; Mankad, Kshitij; Clark, Christopher A; (2022) Brain structure correlates with auditory function in children diagnosed with auditory neuropathy spectrum disorder. Brain Behavior , Article e2773. 10.1002/brb3.2773. (In press). Green open access
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Cross, J Helen; Reilly, Colin; Gutierrez Delicado, Eva; Smith, Mary Lou; Malmgren, Kristina; (2022) Epilepsy surgery for children and adolescents: evidence-based but underused. The Lancet Child & Adolescent Health , 6 (7) pp. 484-494. 10.1016/S2352-4642(22)00098-0. Green open access
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D

Docter, Daniel; Dawood, Yousif; Jacobs, Karl; Hagoort, Jaco; Oostra, Roelof-Jan; van den Hoff, Maurice JB; Arthurs, Owen J; (2022) Microfocus computed tomography for fetal postmortem imaging: an overview. Pediatric Radiology , 53 (4) pp. 632-639. 10.1007/s00247-022-05517-1. Green open access
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Dowling, James J; Müller-Felber, Wolfgang; Smith, Barbara K; Bönnemann, Carsten G; Kuntz, Nancy L; Muntoni, Francesco; Servais, Laurent; ... INCEPTUS investigators, .; + view all (2022) INCEPTUS Natural History, Run-in Study for Gene Replacement Clinical Trial in X-Linked Myotubular Myopathy. Journal of Neuromuscular Diseases , 9 (4) pp. 503-516. 10.3233/JND-210781. Green open access
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E

El-Dib, M; Abend, NS; Austin, T; Boylan, G; Chock, V; Cilio, MR; Greisen, G; ... McCaul, MC; + view all (2022) Neuromonitoring in neonatal critical care part II: extremely premature infants and critically ill neonates. Pediatric Research 10.1038/s41390-022-02392-2. (In press). Green open access
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El-Dib, M; Abend, NS; Austin, T; Boylan, G; Chock, V; Cilio, MR; Greisen, G; ... McCaul, MC; + view all (2022) Neuromonitoring in neonatal critical care part I: neonatal encephalopathy and neonates with possible seizures. Pediatric Research 10.1038/s41390-022-02393-1. (In press). Green open access
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Eriksson, Maria H; Baldeweg, Torsten; Pressler, Ronit; Boyd, Stewart G; Huber, Reto; Cross, J Helen; Bölsterli, Bigna K; (2022) Sleep homeostasis, seizures, and cognition in children with focal epilepsy. Developmental Medicine & Child Neurology 10.1111/dmcn.15403. (In press). Green open access
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F

Fagan, A; Arthurs, OJ; Sebire, NJ; Shelmerdine, SC; (2022) Cinematic rendering of paediatric musculoskeletal pathologies: initial experiences with CT. Clinical Radiology , 77 (4) pp. 274-282. 10.1016/j.crad.2022.01.033. Green open access
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Fuchs, Alexander; Disma, Nicola; Virág, Katalin; Ulmer, Francis; Habre, Walid; de Graaff, Jurgen C; Riva, Thomas; (2022) Peri-operative red blood cell transfusion in neonates and infants: NEonate and Children audiT of Anaesthesia pRactice IN Europe: A prospective European multicentre observational study. European Journal of Anaesthesiology , 39 (3) pp. 252-260. 10.1097/EJA.0000000000001646. Green open access
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G

Gonzalez-Viana, Eva; Sen, Arjune; Bonnon, Alexandra; Cross, J Helen; Guideline Committee; (2022) Epilepsies in children, young people, and adults: summary of updated NICE guidance. BMJ , 378 , Article o1446. 10.1136/bmj.o1446. Green open access
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Grosz, Bianca R; Tisch, Stephen; Tchan, Michel C; Fung, Victor SC; Darveniza, Paul; Fellner, Avi; Kurian, Manju A; ... Kumar, Kishore R; + view all (2022) A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing. Molecular Genetics and Genomic Medicine , 10 (5) , Article e1923. 10.1002/mgg3.1923. Green open access
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Guglieri, M; Bushby, K; McDermott, MP; Hart, KA; Tawil, R; Martens, WB; Herr, BE; ... Chang, T; + view all (2022) Effect of Different Corticosteroid Dosing Regimens on Clinical Outcomes in Boys With Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA , 327 (15) pp. 1456-1468. 10.1001/jama.2022.4315.

Guglieri, M; Clemens, PR; Perlman, SJ; Smith, EC; Horrocks, I; Finkel, RS; Mah, JK; ... Hoffman, EP; + view all (2022) Efficacy and Safety of Vamorolone vs Placebo and Prednisone among Boys with Duchenne Muscular Dystrophy: A Randomized Clinical Trial. JAMA Neurology 10.1001/jamaneurol.2022.2480. (In press). Green open access
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Guja, A; Morrow Jasper, M; Adnan, M; Roxana, G; Roberta, B; Eugenio, M; Reilly, MR; ... Yousry, TA; + view all (2022) Muscle "islands": an MRI signature distinguishing neurogenic from myopathic causes of early onset distal weakness. Neuromuscular Disorders , 32 (2) pp. 142-149. 10.1016/j.nmd.2021.11.003. Green open access
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Gyori, N; Palombo, M; Clark, C; Zhang, H; Alexander, D; (2022) Training data distribution significantly impacts the estimation of tissue microstructure with machine learning. Magnetic Resonance in Medicine , 87 (2) pp. 932-947. 10.1002/mrm.29014. Green open access
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H

Hale, Andrew T; Chari, Aswin; Scott, Rod C; Cross, J Helen; Rozzelle, Curtis J; Blount, Jeffrey P; Tisdall, Martin M; (2022) Expedited epilepsy surgery prior to drug resistance in children: a frontier worth crossing? Brain , 145 (11) pp. 3755-3762. 10.1093/brain/awac275. Green open access
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Hashimoto, Yasumasa; Kuniishi, Hiroshi; Sakai, Kazuhisa; Fukushima, Yuta; Du, Xuan; Yamashiro, Kunihiko; Hori, Kei; ... Aoki, Yoshitsugu; + view all (2022) Brain Dp140 alters glutamatergic transmission and social behaviour in the mdx52 mouse model of Duchenne muscular dystrophy. Progress in Neurobiology , 216 , Article 102288. 10.1016/j.pneurobio.2022.102288. Green open access
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Hood, Anna M; Crosby, Lori E; Stotesbury, Hanne; Kölbel, Melanie; Kirkham, Fenella J; (2022) Considerations for Selecting Cognitive Endpoints and Psychological Patient-Reported Outcomes for Clinical Trials in Pediatric Patients With Sickle Cell Disease. Frontiers in Neurology , 13 , Article 835823. 10.3389/fneur.2022.835823. Green open access
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J

Jacob, Mboka; Kawadler, Jamie M; Murdoch, Russell; Ahmed, Magda; Tutuba, Hilda; Masamu, Upendo; Shmueli, Karin; ... Kirkham, Fenella J; + view all (2022) Brain volume in Tanzanian children with sickle cell anaemia: A neuroimaging study. British Journal of Haematology 10.1111/bjh.18503. (In press). Green open access
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Jacob, Mboka; Stotesbury, Hanne; Kija, Edward; Saunders, Dawn; Mtei, Rachel J; Tutuba, Hilda; Masanu, Upendo; ... Makani, Julie; + view all (2022) Effect of age, cerebral infarcts, vasculopathy and haemoglobin on cognitive function, in Tanzanian children with sickle cell anaemia. European Journal of Paediatric Neurology , 37 pp. 105-113. 10.1016/j.ejpn.2022.01.010. Green open access
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Jamieson, Liz; Harrop, Emily; Liossi, Christina; Boyce, Katherine; Mitchell, Lorraine; Johnson, Margaret; Jani, Yogini; ... Oulton, Kate; + view all (2022) Carer preferences of route of administration of transmucosal diamorphine and willingness to take part in a randomised controlled trial: an interview study (DIPPER). BMC Palliative Care , 21 , Article 78. 10.1186/s12904-022-00951-2. Green open access
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Jehi, Lara; Jette, Nathalie; Kwon, Churl-Su; Josephson, Colin B; Burneo, Jorge G; Cendes, Fernando; Sperling, Michael R; ... Wiebe, Samuel; + view all (2022) Timing of referral to evaluate for epilepsy surgery: Expert Consensus Recommendations from the Surgical Therapies Commission of the International League Against Epilepsy. Epilepsia , 63 (10) pp. 2491-2506. 10.1111/epi.17350. Green open access
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Jethwa, S; Pressler, RM; Kaya, D; Datta, AN; (2022) Sleep architecture in neonatal and infantile onset epilepsies in the first six months of life: A scoping review. European Journal of Paediatric Neurology , 41 pp. 99-108. 10.1016/j.ejpn.2022.11.004. Green open access
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Jiang, Yunsong; Torun, Tugce; Maffioletti, Sara M; Serio, Andrea; Tedesco, Francesco Saverio; (2022) Bioengineering human skeletal muscle models: Recent advances, current challenges and future perspectives. Experimental Cell Research , 416 (2) , Article 113133. 10.1016/j.yexcr.2022.113133. Green open access
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Johannesen, KM; Iqbal, S; Guazzi, M; Mohammadi, NA; Pérez-Palma, E; Schaefer, E; De Saint Martin, A; ... Gardella, E; + view all (2022) Structural mapping of GABRB3 variants reveals genotype–phenotype correlations. Genetics in Medicine , 24 (3) pp. 681-693. 10.1016/j.gim.2021.11.004. Green open access
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Johnson, Emma; Atkinson, Patricia; Muggeridge, Amy; Cross, J Helen; Reilly, Colin; (2022) Impact of epilepsy on learning and behaviour and needed supports: Views of children, parents and school staff. European Journal of Paediatric Neurology , 40 pp. 61-68. 10.1016/j.ejpn.2022.08.001. Green open access
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Jones, Laura; Verriotis, Madeleine; Cooper, Robert J; Laudiano-Dray, Maria Pureza; Rupawala, Mohammed; Meek, Judith; Fabrizi, Lorenzo; (2022) Widespread nociceptive maps in the human neonatal somatosensory cortex. eLife , 11 10.7554/eLife.71655. (In press). Green open access
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Juttukonda, Meher R; Vaclavu, Lena; Kirkham, Fenella J; Fields, Melanie E; Bush, Adam M; (2022) Editorial: Cerebral oxygen supply and demand in sickle cell disease: Evidence of local ischemia despite global hyperemia. Frontiers in Physiology , 13 , Article 1079889. 10.3389/fphys.2022.1079889. Green open access
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K

Kaiyrzhanov, Rauan; Perry, Luke; Rocca, Clarissa; Zaki, Maha S; Hosny, Heba; Araujo Martins Moreno, Cristiane; Phadke, Rahul; ... Maroofian, Reza; + view all (2022) GGPS1-associated muscular dystrophy with and without hearing loss. Annals of Clinical and Translational Neurology 10.1002/acn3.51633. (In press). Green open access
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Katus, Laura; Milosavljevic, Bosiljka; Rozhko, Maria; McCann, Samantha; Mason, Luke; Mbye, Ebrima; Touray, Ebou; ... de Haan, Michelle; + view all (2022) Neural Marker of Habituation at 5 Months of Age Associated with Deferred Imitation Performance at 12 Months: A Longitudinal Study in the UK and The Gambia. Children , 9 (7) , Article 988. 10.3390/children9070988. Green open access
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Khan, M; Chari, A; Seunarine, K; Eltze, C; Moeller, F; D'Arco, F; Thornton, R; ... Tisdall, MM; + view all (2022) Proportion of resected seizure onset zone contacts in pediatric stereo-EEG-guided resective surgery does not correlate with outcome. Clinical Neurophysiology , 138 pp. 18-24. 10.1016/j.clinph.2022.03.012. Green open access
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Kim, Hong Joo; Mohassel, Payam; Donkervoort, Sandra; Guo, Lin; O'Donovan, Kevin; Coughlin, Maura; Lornage, Xaviere; ... Taylor, J Paul; + view all (2022) Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy. Nature Communications , 13 , Article 2306. 10.1038/s41467-022-30015-1. Green open access
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Knight, Elia M Pestana; Amin, Sam; Bahi-Buisson, Nadia; Benke, Tim A; Cross, J Helen; Demarest, Scott T; Olson, Heather E; ... Marigold Trial Group; + view all (2022) Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial. The Lancet Neurology , 21 (5) pp. 417-427. 10.1016/S1474-4422(22)00077-1. Green open access
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Kok, TE; Domingo, D; Hassan, J; Vuong, A; Hordacre, B; Clark, C; Katrakazas, P; (2022) Resting-state Networks in Tinnitus: A Scoping Review. Clinical Neuroradiology 10.1007/s00062-022-01170-1. (In press). Green open access
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Koopmann, Tamara T; Jamshidi, Yalda; Naghibi-Sistani, Mohammad; van der Klift, Heleen M; Birjandi, Hassan; Al-Hassnan, Zuhair; Alwadai, Abdullah; ... Maroofian, Reza; + view all (2022) Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathy. European Journal of Human Genetics 10.1038/s41431-022-01204-9. (In press). Green open access
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Kucera, Filip; Laurence, Craig; Simmonds, Jacob; Gavela, Javier; Bodnar, Tetyana; Brogan, Paul; Hoskote, Aparna; ... Khambadkone, Sachin; + view all (2022) Cardiac outcomes in severe acute respiratory syndrome coronavirus-2-associated multisystem inflammatory syndrome at a tertiary paediatric hospital. Cardiology in the Young , Article PII S104795112100456X. 10.1017/S104795112100456X. (In press). Green open access
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Kwon, Churl-Su; Jacoby, Ann; Ali, Amza; Austin, Joan; Birbeck, Gretchen L; Braga, Patricia; Cross, J Helen; ... Jette, Nathalie; + view all (2022) Systematic review of frequency of felt and enacted stigma in epilepsy and determining factors and attitudes toward persons living with epilepsy-Report from the International League Against Epilepsy Task Force on Stigma in Epilepsy. Epilepsia , 63 (3) pp. 573-597. 10.1111/epi.17135. Green open access
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L

Lange, Jenny; Zhou, Haiyan; McTague, Amy; (2022) Cerebral Organoids and Antisense Oligonucleotide Therapeutics: Challenges and Opportunities. Frontiers in Molecular Neuroscience , 15 , Article 941528. 10.3389/fnmol.2022.941528. Green open access
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Laurie, S; Piscia, D; Matalonga, L; Corvó, A; Fernández-Callejo, M; Garcia-Linares, C; Hernandez-Ferrer, C; ... Beltran, S; + view all (2022) The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases. Human Mutation: Variation, Informatics and Disease , 43 (6) pp. 717-733. 10.1002/humu.24353. Green open access
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Le Gall, Laura; Duddy, William J; Martinat, Cecile; Mariot, Virginie; Connolly, Owen; Milla, Vanessa; Anakor, Ekene; ... Pradat, Pierre Francois; + view all (2022) Muscle cells of sporadic amyotrophic lateral sclerosis patients secrete neurotoxic vesicles. Journal of Cachexia, Sarcopenia and Muscle 10.1002/jcsm.12945. (In press). Green open access
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Lee, Sunwoo; Ochoa, Eguzkine; Barwick, Katy; Cif, Laura; Rodger, Fay; Docquier, France; Pérez-Dueñas, Belén; ... Maher, Eamonn R; + view all (2022) Comparison of methylation episignatures in KMT2B- and KMT2D-related human disorders. Epigenomics , 14 (9) pp. 537-547. 10.2217/epi-2021-0521. Green open access
file

M

MacCannell, Drew; Berger, Zdenek; Kirschner, Janbernd; Mercuri, Eugenio; Farrar, Michelle A; Iannaccone, Susan T; Kuntz, Nancy L; ... Muntoni, Francesco; + view all (2022) Restoration of Nusinersen Levels Following Treatment Interruption in People With Spinal Muscular Atrophy: Simulations Based on a Population Pharmacokinetic Model. CNS Drugs , 36 (2) pp. 181-190. 10.1007/s40263-022-00899-0. Green open access
file

Marcus, HJ; Bennett, A; Chari, A; Day, T; Hirst, A; Hughes-Hallett, A; Kolias, A; ... McCulloch, P; + view all (2022) IDEAL-D Framework for Device Innovation: A Consensus Statement on the Preclinical Stage. Annals of Surgery , 275 (1) pp. 73-79. 10.1097/SLA.0000000000004907. Green open access
file

Maresh, Kate; Papageorgiou, Andriani; Ridout, Deborah; Harrison, Neil; Mandy, William; Skuse, David; Muntoni, Francesco; (2022) Development of a novel startle response task in Duchenne muscular dystrophy. PLoS ONE , 17 (4) , Article e0264091. 10.1371/journal.pone.0264091. Green open access
file

Mariot, Virginie; Dumonceaux, Julie; (2022) Gene Editing to Tackle Facioscapulohumeral Muscular Dystrophy. Frontiers in Genome Editing , 4 , Article 937879. 10.3389/fgeed.2022.937879. Green open access
file

Marrosu, Elena; (2022) Characterisation of a novel interaction of dystrophin with caveolae in the heart. Doctoral thesis (Ph.D), UCL (University College London). Green open access
file

Masson, R; Mazurkiewicz-Bełdzińska, M; Rose, K; Servais, L; Xiong, H; Zanoteli, E; Baranello, G; ... Sposetti, L; + view all (2022) Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2): secondary analyses from an open-label trial. The Lancet Neurology , 21 (12) pp. 1110-1119. 10.1016/S1474-4422(22)00339-8. Green open access
file

McDowell, AR; Feiweier, T; Muntoni, F; Hall, MG; Clark, CA; (2022) Clinically feasible diffusion MRI in muscle: Time dependence and initial findings in Duchenne muscular dystrophy. Magnetic Resonance in Medicine , 86 (6) pp. 3192-3200. 10.1002/mrm.28945. Green open access
file

McMillan, Hugh J; Proud, Crystal M; Farrar, Michelle A; Alexander, Ian E; Muntoni, Francesco; Servais, Laurent; (2022) Onasemnogene abeparvovec for the treatment of spinal muscular atrophy. Expert Opinion on Biological Therapy 10.1080/14712598.2022.2066471. (In press). Green open access
file

McTague, Amy; Brunklaus, Andreas; Barcia, Giulia; Varadkar, Sophia; Zuberi, Sameer M; Chatron, Nicolas; Parrini, Elena; ... Lesca, Gaetan; + view all (2022) Defining causal variants in rare epilepsies: An essential team effort between biomedical scientists, geneticists and epileptologists. European Journal of Medical Genetics , 65 (7) , Article 104531. 10.1016/j.ejmg.2022.104531. Green open access
file

Melland, Holly; Bumbak, Fabian; Kolesnik-Taylor, Anna; Ng-Cordell, Elise; John, Abinayah; Constantinou, Panayiotis; Joss, Shelagh; ... Baker, Kate; + view all (2022) Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder. Genetics in Medicine 10.1016/j.gim.2021.12.002. (In press). Green open access
file

Meng, Jinhong; Moore, Marc; Counsell, John; Muntoni, Francesco; Popplewell, Linda; Morgan, Jennifer; (2022) Optimized lentiviral vector for restoration of full-length dystrophin via a cell-mediated approach in a mouse model of Duchenne muscular dystrophy. Molecular Therapy: Methods & Clinical Development 10.1016/j.omtm.2022.04.015. (In press). Green open access
file

Mercuri, Eugenio; Baranello, Giovanni; Boespflug-Tanguy, Odile; De Waele, Liesbeth; Goemans, Nathalie; Kirschner, Janbernd; Masson, Riccardo; ... Servais, Laurent; + view all (2022) Risdiplam in types 2 and 3 spinal muscular atrophy: A randomised, placebo-controlled, dose-finding trial followed by 24 months of treatment. European Journal of Neurology 10.1111/ene.15499. (In press). Green open access
file

Meshaka, Riwa; Whittam, Fern C; Guessoum, Myriam; Eleti, Saigeet; Shelmerdine, Susan C; Arthurs, Owen J; McHugh, Kieran; ... Watson, Tom; + view all (2022) Abdominal US in Pediatric Inflammatory Multisystem Syndrome Associated with SARS-CoV-2 (PIMS-TS). Radiology , 303 (1) pp. 173-181. 10.1148/radiol.211737. Green open access
file

Mesraoua, Boulenouar; Cross, J Helen; Perucca, Emilio; Asadi-Pooya, Ali A; (2022) Epilepsy management during difficult times. Epileptic Disorders: international epilepsy journal with videotape , 24 (5) pp. 787-794. 10.1684/epd.2022.1453. Green open access
file

Mikellides, Georgios; Michael, Panayiota; Psalta, Lilia; Stefani, Artemis; Schuhmann, Teresa; Sack, Alexander T; (2022) Accelerated Intermittent Theta Burst Stimulation in Smoking Cessation: Placebo Effects Equal to Active Stimulation When Using Advanced Placebo Coil Technology. Frontiers in Psychiatry , 13 , Article 892075. 10.3389/fpsyt.2022.892075. Green open access
file

Mizrahi, Eli M; Pressler, Ronit M; (2022) The International League Against Epilepsy New Classification of Neonatal Seizures. Pediatrics , 150 (5) , Article e2022058114. 10.1542/peds.2022-058114. Green open access
filefilefile

Morera, Cristina; Kim, Jihee; Paredes-Redondo, Amaia; Nobles, Muriel; Rybin, Denis; Moccia, Robert; Kowala, Anna; ... Lin, Yung-Yao; + view all (2022) CRISPR-mediated correction of skeletal muscle Ca2+ handling in a novel DMD patient-derived pluripotent stem cell model. Neuromuscular Disorders 10.1016/j.nmd.2022.10.007. (In press). Green open access
file

Morison, Lottie D; Meffert, Elisabeth; Stampfer, Miriam; Steiner-Wilke, Irene; Vollmer, Brigitte; Schulze, Katrin; Briggs, Tracy; ... Morgan, Angela T; + view all (2022) In-depth characterisation of a cohort of individuals with missense and loss-of-function variants disrupting FOXP2. Journal of Medical Genetics 10.1136/jmg-2022-108734. (In press). Green open access
file

Morton, Sarah U; Christodoulou, John; Costain, Gregory; Muntoni, Francesco; Wakeling, Emma; Wojcik, Monica H; French, Courtney E; ... Agrawal, Pankaj B; + view all (2022) Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review. JAMA Neurology , 79 (4) pp. 405-413. 10.1001/jamaneurol.2022.0067. Green open access
file

Munot, P; McCrea, N; Torelli, S; Manzur, A; Sewry, C; Chambers, D; Feng, L; ... Muntoni, F; + view all (2022) TRAPPC11-related muscular dystrophy with hypoglycosylation of alpha-dystroglycan in skeletal muscle and brain. Neuropathology and Applied Neurobiology , 48 (2) , Article e12771. 10.1111/nan.12771. Green open access
file

Muntoni, Francesco; Guglieri, Michela; Mah, Jean K; Wagner, Kathryn R; Brandsema, John F; Butterfield, Russell J; McDonald, Craig M; ... Mercuri, Eugenio; + view all (2022) Novel approaches to analysis of the North Star Ambulatory Assessment (NSAA) in Duchenne muscular dystrophy (DMD): Observations from a phase 2 trial. PLoS One , 17 (8) , Article e0272858. 10.1371/journal.pone.0272858. Green open access
file

Muntoni, Francesco; Signorovitch, James; Sajeev, Gautam; Goemans, Nathalie; Wong, Brenda; Tian, Cuixia; Mercuri, Eugenio; ... North Star Clinical Network, PRO-DMD-01 Study, The Association F; + view all (2022) Real-world and natural history data for drug evaluation in Duchenne muscular dystrophy: suitability of the North Star Ambulatory Assessment for comparisons with external controls. Neuromuscular Disorders 10.1016/j.nmd.2022.02.009. (In press). Green open access
file

Murdoch, Russell; Stotesbury, Hanne; Hales, Patrick W; Kawadler, Jamie M; Kölbel, Melanie; Clark, Christopher A; Kirkham, Fenella J; (2022) A Comparison of MRI Quantitative Susceptibility Mapping and TRUST-Based Measures of Brain Venous Oxygen Saturation in Sickle Cell Anaemia. Frontiers in Psychology , 13 , Article 913443. 10.3389/fphys.2022.913443. Green open access
file

N

Nabbout, Rima; Kuchenbuch, Mathieu; Tinuper, Paolo; Cross, J Helen; Wirrell, Elaine; (2022) 3D figure of epilepsy syndromes. Epilepsia Open 10.1002/epi4.12665. (In press). Green open access
file

Najm, Imad; Lal, Dennis; Alonso Vanegas, Mario; Cendes, Fernando; Lopes-Cendes, Iscia; Palmini, Andre; Paglioli, Eliseu; ... Blümcke, Ingmar; + view all (2022) The ILAE consensus classification of focal cortical dysplasia: An update proposed by an ad hoc task force of the ILAE diagnostic methods commission. Epilepsia 10.1111/epi.17301. (In press). Green open access
file

Natera-de Benito, Daniel; Jurgens, Julie A; Yeung, Alison; Zaharieva, Irina T; Manzur, Adnan; DiTroia, Stephanie P; Di Gioia, Silvio Alessandro; ... Muntoni, Francesco; + view all (2022) Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder. Human Mutation , 43 (4) pp. 487-498. 10.1002/humu.24333. Green open access
file

Neaverson, Alexandra; Andersson, Malin HL; Arshad, Osama A; Foulser, Luke; Goodwin-Trotman, Mary; Hunter, Adam; Newman, Ben; ... Gerety, Sebastian S; + view all (2022) Differentiation of human induced pluripotent stem cells into cortical neural stem cells. Frontiers in Cell and Developmental Biology , 10 , Article 1023340. 10.3389/fcell.2022.1023340. Green open access
file

Nolden, Kelsey A; Egner, John M; Collier, Jack J; Russell, Oliver M; Alston, Charlotte L; Harwig, Megan C; Widlansky, Michael E; ... Oláhová, Monika; + view all (2022) Novel DNM1L variants impair mitochondrial dynamics through divergent mechanisms. Life Science Alliance , 5 (12) , Article e202101284. 10.26508/lsa.202101284. Green open access
file

P

Palmer, Elizabeth E; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H; Suckow, Vanessa; Gibbons, Jessica; ... Kalscheuer, Vera M; + view all (2022) Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition. Molecular Psychiatry 10.1038/s41380-022-01852-9. (In press). Green open access
file

Papandreou, A; Soo, AKS; Spaull, R; Mankad, K; Kurian, MA; Sudhakar, S; (2022) Expanding the Spectrum of Early Neuroradiologic Findings in β Propeller Protein-Associated Neurodegeneration. American Journal of Neuroradiology , 43 (12) pp. 1810-1814. 10.3174/ajnr.A7693. Green open access
file

Papandreou, Apostolos; Doykov, Ivan; Spiewak, Justyna; Komarov, Nikita; Habermann, Stephanie; Kurian, Manju A; Mills, Philippa B; ... Clinical cohort recruitment and characterization group, .; + view all (2022) Niemann–Pick type C disease as proof-of-concept for intelligent biomarker panel selection in neurometabolic disorders. Developmental Medicine & Child Neurology 10.1111/dmcn.15334. (In press). Green open access
file

Peckham, Hannah; Webb, Kate; Rosser, Elizabeth C; Butler, Gary; Ciurtin, Coziana; (2022) Gender-Diverse Inclusion in Immunological Research: Benefits to Science and Health. Frontiers in Medicine , 9 , Article 909789. 10.3389/fmed.2022.909789. Green open access
file

Perez-Duenas, Belen; Gorman, Kathleen; Marce-Grau, Anna; Ortigoza-Escobar, Juan D; Macaya, Alfons; Danti, Federica R; Barwick, Katy; ... Kurian, Manju A; + view all (2022) The Genetic Landscape of Complex Childhood-Onset Hyperkinetic Movement Disorders. Movement Disorders , 37 (11) pp. 2197-2209. 10.1002/mds.29182. Green open access
file

Pinho-Gomes, Ana-Catarina; Sen, Arjune; Cross, J Helen; Owen, Lesley; (2022) Inequalities in specialist care for people with epilepsy in the UK. Lancet Neurology , 21 (6) pp. 504-505. 10.1016/S1474-4422(22)00126-0. Green open access
file

Pini, Veronica; Mariot, Virginie; Dumonceaux, Julie; Counsell, John; O'Neill, Helen C; Farmer, Sarah; Conti, Francesco; (2022) Transiently expressed CRISPR/Cas9 induces wild-type dystrophin in vitro in DMD patient myoblasts carrying duplications. Scientific Reports , 12 (1) , Article 3756. 10.1038/s41598-022-07671-w. Green open access
file

Piper, Rory J; Fleming, John; Valentín, Antonio; Kaliakatsos, Marios; Tisdall, Martin M; (2022) Neurostimulation devices for children: lessons learned. The Lancet Child and Adolescent Health , 6 (6) pp. 359-361. 10.1016/S2352-4642(22)00123-7. Green open access
file

Piper, Rory J; Richardson, R Mark; Worrell, Gregory; Carmichael, David W; Baldeweg, Torsten; Litt, Brian; Denison, Timothy; (2022) Towards network-guided neuromodulation for epilepsy. Brain , Article awac234. 10.1093/brain/awac234. (In press). Green open access
file

Pressler, Ronit M; Boylan, Geraldine B; (2022) Translational neonatal seizure research - a reality check. Epilepsia , 63 (7) pp. 1874-1879. 10.1111/epi.17276. Green open access
file

Q

Qiu, Yichen; O’Neill, Nathanael; Maffei, Benito; Zourray, Clara; Almacellas-Barbanoj, Amanda; Carpenter, Jenna C; Jones, Steffan P; ... Lignani, Gabriele; + view all (2022) On-demand cell-autonomous gene therapy for brain circuit disorders. Science , 378 (6619) pp. 523-532. 10.1126/science.abq6656. Green open access
file

R

Ramsey, Danielle; Ramdharry, Gita; Scoto, Mariacristina; Muntoni, Francesco; Wallace, Amanda; SMA REACH UK, network; (2022) Revised Hammersmith Scale for spinal muscular atrophy: Inter and intra-rater reliability and agreement. PLoS One , 17 (12) , Article e0278996. 10.1371/journal.pone.0278996. Green open access
file

Real, FJ; Hood, AM; Davis, D; Cruse, B; Klein, M; Johnson, Y; McTate, E; ... Crosby, LE; + view all (2022) An Immersive Virtual Reality Curriculum for Pediatric Hematology Clinicians on Shared Decision-making for Hydroxyurea in Sickle Cell Anemia. Journal of Pediatric Hematology/Oncology , 44 (3) e799-e803. 10.1097/mph.0000000000002289. Green open access
file

Reid, KM; Spaull, R; Salian, S; Barwick, K; Meyer, E; Zhen, J; Hirata, H; ... Kurian, MA; + view all (2022) MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia. Movement Disorders 10.1002/mds.29147. (In press). Green open access
file

Robinson, George A; Peng, Junjie; Peckham, Hannah; Butler, Gary; Pineda-Torra, Ines; Ciurtin, Coziana; Jury, Elizabeth C; (2022) Investigating sex differences in T regulatory cells from cisgender and transgender healthy individuals and patients with autoimmune inflammatory disease: a cross-sectional study. The Lancet Rheumatology , 4 (10) e710-e724. 10.1016/S2665-9913(22)00198-9. Green open access
file

Rossi, Rachele; Fang, Mingyan; Zhu, Lin; Jiang, Chongyi; Yu, Cong; Flesia, Cristina; Nie, Chao; ... Ferlini, Alessandra; + view all (2022) Calculating and comparing codon usage values in rare disease genes highlights codon clustering with disease-and tissue- specific hierarchy. PLoS One , 17 (3) , Article e0265469. 10.1371/journal.pone.0265469. Green open access
file

S

Sabbatini, Daniele; Fusto, Aurora; Vianello, Sara; Villa, Matteo; Janik, Joanna; D'Angelo, Grazia; Diella, Eleonora; ... Pegoraro, Elena; + view all (2022) Genetic modifiers of upper limb function in Duchenne muscular dystrophy. Journal of Neurology , 269 pp. 4884-4894. 10.1007/s00415-022-11133-8. Green open access
file

Sakki, Hanna; Dale, Naomi J; Mankad, Kshitij; Sargent, Jenefer; Talenti, Giacomo; Bowman, Richard; (2022) Exploratory Investigation of Brain MRI Lesions According to Whole Sample and Visual Function Subtyping in Children With Cerebral Visual Impairment. Frontiers , 15 , Article 765371. 10.3389/fnhum.2021.765371. Green open access
file

Shelmerdine, Susan C; White, Richard D; Liu, Hantao; Arthurs, Owen J; Sebire, Neil J; (2022) Artificial intelligence for radiological paediatric fracture assessment: a systematic review. Insights into Imaging , 13 , Article 94. 10.1186/s13244-022-01234-3. Green open access
file

Sherlock, Sarah P; Palmer, Jeffrey; Wagner, Kathryn R; Abdel-Hamid, Hoda Z; Bertini, Enrico; Tian, Cuixia; Mah, Jean K; ... Marraffino, Shannon; + view all (2022) Quantitative magnetic resonance imaging measures as biomarkers of disease progression in boys with Duchenne muscular dystrophy: a phase 2 trial of domagrozumab. Journal of Neurology 10.1007/s00415-022-11084-0. (In press). Green open access
file

Sherlock, Sarah P; Palmer, Jeffrey; Wagner, Kathryn R; Abdel-Hamid, Hoda Z; Tian, Cuixia; Mah, Jean K; Muntoni, Francesco; ... Marraffino, Shannon; + view all (2022) Dual-energy X-ray absorptiometry measures of lean body mass as a biomarker for progression in boys with Duchenne muscular dystrophy. Scientific Reports , 12 (1) , Article 18762. 10.1038/s41598-022-23072-5. Green open access
file

Shirley, Meghan; Arthurs, Owen; Seunarine, K; Cole, Tim; Eaton, Simon; Williams, J; Clark, Chris; (2022) Implications of leg length for metabolic health and fitness. Evolution Medicine and Public Health , 10 (1) pp. 316-324. 10.1093/emph/eoac023. Green open access
file

Simons, Laura; Moayedi, Massieh; Coghill, Robert C; Stinson, Jennifer; Angst, Martin S; Aghaeepour, Nima; Gaudilliere, Brice; ... Heirich, Marissa; + view all (2022) Signature for Pain Recovery IN Teens (SPRINT): protocol for a multisite prospective signature study in chronic musculoskeletal pain. BMJ Open , 12 (6) , Article e061548. 10.1136/bmjopen-2022-061548. Green open access
file

Smith, KS; Bihannic, L; Gudenas, BL; Haldipur, P; Tao, R; Gao, Q; Li, Y; ... Northcott, PA; + view all (2022) Unified rhombic lip origins of group 3 and group 4 medulloblastoma. Nature , 609 (7929) pp. 1012-1020. 10.1038/s41586-022-05208-9. Green open access
file

Sogbodjor, Lisa A; Singleton, Georgina; Davenport, Mark; Walker, Suellen; Moonesinghe, S Ramani; (2022) Quality metrics for emergency abdominal surgery in children: a systematic review. British Journal of Anaesthesia , 128 (3) pp. 522-534. 10.1016/j.bja.2021.10.045. Green open access
file

Sourbron, Jo; Auvin, Stéphane; Arzimanoglou, Alexis; Cross, J Helen; Hartmann, Hans; Pressler, Ronit; Riney, Kate; ... Lagae, Lieven; + view all (2022) Medical treatment in infants and young children with epilepsy: Off-label use of antiseizure medications Survey Report of ILAE Task Force Medical Therapies in Children. Epilepsia Open 10.1002/epi4.12666. (In press). Green open access
file

Spaull, R; Hogarth, P; Hayflick, S; Kurian, MA; (2022) Development of a UK phase-2 clinical trial of 4'-phosphopantetheine for pantothenate kinase associated neurodegeneration. Presented at: British Paediatric Neurology Association 2022 Annual Meeting, Dublin, Ireland (Virtual conference). Green open access
file

Spaull, Robert; Steel, Dora; Barwick, Katy; Prabhakar, Prab; Wakeling, Emma; Kurian, Manju A; (2022) STXBP1 stop‐loss mutation associated with complex early onset movement disorder without epilepsy. Movement Disorders Clinical Practice 10.1002/mdc3.13509. (In press). Green open access
file

Specchio, Nicola; Wirrell, Elaine C; Scheffer, Ingrid E; Nabbout, Rima; Riney, Kate; Samia, Pauline; Guerreiro, Marilisa; ... Auvin, Stéphane; + view all (2022) International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions. Epilepsia 10.1111/epi.17241. (In press). Green open access
file

Spitzer, Hannah; Ripart, Mathilde; Whitaker, Kirstie; D'Arco, Felice; Mankad, Kshitij; Chen, Andrew A; Napolitano, Antonio; ... Wagstyl, Konrad; + view all (2022) Interpretable surface-based detection of focal cortical dysplasias: a Multi-centre Epilepsy Lesion Detection study. Brain , 145 (11) pp. 3859-3871. 10.1093/brain/awac224. Green open access
file

Steel, Dora; Vezyroglou, Aikaterini; Barwick, Katy; Smith, Martin; Vogt, Julie; Gibbon, Frances M; Cross, J Helen; (2022) Both Heterozygous and Homozygous Loss-of-Function JPH3 Variants Are Associated with a Paroxysmal Movement Disorder. Movement Disorders 10.1002/mds.29250. (In press). Green open access
file

Stimpson, Georgia; Raquq, Sarah; Chesshyre, Mary; Fewtrell, Mary; Ridout, Deborah; Sarkozy, Anna; Manzur, Adnan; ... NorthStar Network; + view all (2022) Growth pattern trajectories in boys with Duchenne muscular dystrophy. Orphanet Journal of Rare Diseases , 17 , Article 20. 10.1186/s13023-021-02158-9. Green open access
file

Stotesbury, H; Hales, PW; Koelbel, M; Hood, AM; Kawadler, JM; Saunders, DE; Sahota, S; ... Kirkham, FJ; + view all (2022) Venous cerebral blood flow quantification and cognition in patients with sickle cell anemia. Journal of Cerebral Blood Flow & Metabolism 10.1177/0271678X211072391. (In press). Green open access
file

Stotesbury, Hanne; Hales, Patrick W; Hood, Anna M; Koelbel, Melanie; Kawadler, Jamie M; Saunders, Dawn E; Sahota, Sati; ... Kirkham, Fenella J; + view all (2022) Individual Watershed Areas in Sickle Cell Anemia: An Arterial Spin Labeling Study. Frontiers in Physiology , 13 , Article 865391. 10.3389/fphys.2022.865391. Green open access
file

Stotesbury, Hanne; Kawadler, Jamie M; Clayden, Jonathan D; Saunders, Dawn E; Hood, Anna M; Koelbel, Melanie; Sahota, Sati; ... Kirkham, Fenella J; + view all (2022) Quantification of Silent Cerebral Infarction on High-Resolution FLAIR and Cognition in Sickle Cell Anemia. Frontiers in Neurology , 13 , Article 867329. 10.3389/fneur.2022.867329. Green open access
file

Strauss, Kevin A; Farrar, Michelle A; Muntoni, Francesco; Saito, Kayoko; Mendell, Jerry R; Servais, Laurent; McMillan, Hugh J; ... Macek, Thomas A; + view all (2022) Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial. Nature Medicine 10.1038/s41591-022-01866-4. (In press). Green open access
file

Strauss, Kevin A; Farrar, Michelle A; Muntoni, Francesco; Saito, Kayoko; Mendell, Jerry R; Servais, Laurent; McMillan, Hugh J; ... Macek, Thomas A; + view all (2022) Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial. Nature Medicine 10.1038/s41591-022-01867-3. (In press). Green open access
file

T

Takahashi, Keigo; Nelvagal, Hemanth R; Lange, Jenny; Cooper, Jonathan D; (2022) Glial Dysfunction and Its Contribution to the Pathogenesis of the Neuronal Ceroid Lipofuscinoses. Frontiers in Neurology , 13 , Article 886567. 10.3389/fneur.2022.886567. Green open access
file

Thompson, Jacqueline Y; Menzies, Julie C; Manning, Joseph C; McAnuff, Jennifer; Brush, Emily Clare; Ryde, Francesca; Rapley, Tim; ... Scholefield, Barnaby R; + view all (2022) Early mobilisation and rehabilitation in the PICU: a UK survey. BMJ Paediatrics Open , 6 (1) , Article e001300. 10.1136/bmjpo-2021-001300. Green open access
file

Thompson-Lake, DGY; Scerri, TS; Block, S; Turner, SJ; Reilly, S; Kefalianos, E; Bonthrone, AF; ... Morgan, AT; + view all (2022) Atypical development of Broca's area in a large family with inherited stuttering. Brain , 145 (3) pp. 1177-1188. 10.1093/brain/awab364. Green open access
file

Tizzano, Eduardo F; Christie-Brown, Vanessa; Baranello, Giovanni; Germanenko, Olga; Gray, Allyson; Krstic, Marija; Lilien, Charlotte; ... Scoto, Mariacristina; + view all (2022) Clinical Trial Readiness for Spinal Muscular Atrophy: Experience of an International Educational-Training Initiative. Journal of Neuromuscular Diseases , 9 (6) pp. 809-820. 10.3233/JND-221538. Green open access
file

Toescu, Sebastian M; Bruckert, Lisa; Jabarkheel, Rashad; Yecies, Derek; Zhang, Michael; Clark, Christopher A; Mankad, Kshitij; ... Yeom, Kristen W; + view all (2022) Spatiotemporal changes in along-tract profilometry of cerebellar peduncles in cerebellar mutism syndrome. NeuroImage: Clinical , 35 , Article 103000. 10.1016/j.nicl.2022.103000. Green open access
file

Toescu, SM; Hales, PW; Cooper, J; Dyson, EW; Mankad, K; Clayden, JD; Aquilina, K; (2022) Arterial Spin-Labeling Perfusion Metrics in Pediatric Posterior Fossa Tumor Surgery. AJNR American Journal of Neuroradiology , 43 (10) pp. 1508-1515. 10.3174/ajnr.A7637. Green open access
file

Tu, YuShan; Muley, Milind M; Beggs, Simon; Salter, Michael W; (2022) Microglia-independent peripheral neuropathic pain in male and female mice. Pain , 163 (11) e1129-e1144. 10.1097/j.pain.0000000000002643. Green open access
file

V

Vanhatalo, Sampsa; Stevenson, Nathan J; Pressler, Ronit M; Abend, Nicholas S; Auvin, Stephane; Brigo, Francesco; Cilio, M Roberta; ... Boylan, Geraldine B; + view all (2022) Why monitor the neonatal brain-that is the important question. Pediatric Research 10.1038/s41390-022-02040-9. (In press). Green open access
file

Vegda, H; Krishnan, V; Variane, G; Bagayi, V; Ivain, P; Pressler, RM; (2022) Neonatal Seizures—Perspective in Low-and Middle-Income Countries. Indian Journal of Pediatrics 10.1007/s12098-021-04039-2. Green open access
file

Veggiotti, P; Józwiak, S; Kirkham, F; Moreira, J; Pereira, A; Ikedo, F; Gama, H; (2022) Long-term therapeutic effect of eslicarbazepine acetate in children: An open-label extension of a cognition study in children aged 6-16 years. Epilepsy & Behavior , 127 , Article 108515. 10.1016/j.yebeh.2021.108515. (In press). Green open access
file

Verriotis, Madeleine; Sorger, Clarissa; Peters, Judy; Ayoub, Lizbeth J; Seunarine, Kiran K; Clark, Chris A; Walker, Suellen M; (2022) Amygdalar Functional Connectivity Differences Associated With Reduced Pain Intensity in Pediatric Peripheral Neuropathic Pain. Frontiers in Pain Research , 3 , Article 918766. 10.3389/fpain.2022.918766. Green open access
file

Vezyroglou, Aikaterini; Akilapa, Rhoda; Barwick, Katy; Koene, Saskia; Brownstein, Catherine A; Holder-Espinasse, Muriel; Fry, Andrew E; ... Balasubramanian, Meena; + view all (2022) The Phenotypic Continuum of ATPLA3-Related Disorders. Neurology , 99 (14) e1511-e1526. 10.1212/WNL.0000000000200927. Green open access
file

Vezyroglou, Aikaterini; Hebden, Peter; De Roever, Isabel; Thornton, Rachel; Mitra, Subhabrata; Worley, Alan; Alves, Mariana; ... Tachtsidis, Ilias; + view all (2022) Broadband-NIRS System Identifies Epileptic Focus in a Child with Focal Cortical Dysplasia—A Case Study. Metabolites , 12 (3) , Article 260. 10.3390/metabo12030260. Green open access
file

Volpatti, Jonathan R; Ghahramani-Seno, Mehdi M; Mansat, Mélanie; Sabha, Nesrin; Sarikaya, Ege; Goodman, Sarah J; Chater-Diehl, Eric; ... Dowling, James J; + view all (2022) X-linked myotubular myopathy is associated with epigenetic alterations and is ameliorated by HDAC inhibition. Acta Neuropathologica 10.1007/s00401-022-02468-7. (In press). Green open access
file

W

Walker, SM; Malkmus, S; Eddinger, K; Steinauer, J; Roberts, AJ; Shubayev, VI; Grafe, MR; ... Yaksh, TL; + view all (2022) Evaluation of neurotoxicity and long-term function and behavior following intrathecal 1 % 2-chloroprocaine in juvenile rats. NeuroToxicology , 88 pp. 155-167. 10.1016/j.neuro.2021.11.010. Green open access
file

Walker, SM; Selers, EL; Jay, MA; (2022) Intravenous opioids for chemotherapy-induced severe mucositis pain in children: Systematic review and single-center case series of management with patient- or nurse-controlled analgesia (PCA/NCA). Pediatric Anesthesia , 32 (1) pp. 17-34. 10.1111/pan.14324. Green open access
file

Walker, Suellen M; Engelhardt, Thomas; Ahmad, Nargis; Dobby, Nadine; UK Collaborators; NECTARINE Group Steering Committee; (2022) Perioperative critical events and morbidity associated with anesthesia in early life: Subgroup analysis of United Kingdom participation in the NEonate and Children audiT of Anaesthesia pRactice IN Europe (NECTARINE) prospective multicenter observational study. Pediatric Anesthesia , 32 (7) pp. 801-814. 10.1111/pan.14457. Green open access
file

Weststrate, Harriet; Stimpson, Georgia; Thomas, Lily; Scoto, Mariacristina; Johnson, Emily; Stewart, Alexandra; Muntoni, Francesco; ... Conway, Eleanor; + view all (2022) Evolution of bulbar function in spinal muscular atrophy type 1 treated with nusinersen. Developmental Medicine & Child Neurology 10.1111/dmcn.15171. Green open access
file

Wirrell, Elaine C; Nabbout, Rima; Scheffer, Ingrid E; Alsaadi, Taoufik; Bogacz, Alicia; French, Jacqueline A; Hirsch, Edouard; ... Tinuper, Paolo; + view all (2022) Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions. Epilepsia 10.1111/epi.17237. Green open access
file

Wirth, Thomas; Garone, Giacomo; Kurian, Manju A; Piton, Amelie; Millan, Francisca; Telegrafi, Aida; Drouot, Nathalie; ... Anheim, Mathieu; + view all (2022) Highlighting the Dystonic Phenotype Related to GNAO1. Movement Disorders 10.1002/mds.29074. (In press). Green open access
file

Y

Young, William J; Lahrouchi, Najim; Isaacs, Aaron; Duong, ThuyVy; Foco, Luisa; Ahmed, Farah; Brody, Jennifer A; ... Munroe, Patricia B; + view all (2022) Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways. Nature Communications , 13 , Article 5144. 10.1038/s41467-022-32821-z. Green open access
file

Z

Zaharieva, Irina T; Scoto, Mariacristina; Aragon‐Gawinska, Karolina; Ridout, Deborah; Doreste, Bruno; Servais, Laurent; Muntoni, Francesco; (2022) Response of plasma microRNAs to nusinersen treatment in patients with SMA. Annals of Clinical and Translational Neurology 10.1002/acn3.51579. Green open access
file

Zambon, Alberto A; Ayyar Gupta, Vandana; Ridout, Deborah; Manzur, Adnan Y; Baranello, Giovanni; Trucco, Federica; Muntoni, Francesco; (2022) Peak functional ability and age at loss of ambulation in Duchenne muscular dystrophy. Developmental Medicine & Child Neurology 10.1111/dmcn.15176. (In press). Green open access
file

Zhou, Haiyan; Hong, Ying; Scoto, Mariacristina; Thomson, Alison; Pead, Emma; MacGillivray, Tom; Hernandez-Gerez, Elena; ... Muntoni, Francesco; + view all (2022) Microvasculopathy in SMA is driven by a reversible autonomous endothelial cell defect. Journal of Clinical Investigation , 132 (21) , Article e153430. 10.1172/JCI153430. Green open access
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Zuberi, Sameer M; Wirrell, Elaine; Yozawitz, Elissa; Wilmshurst, Jo M; Specchio, Nicola; Riney, Kate; Pressler, Ronit; ... Nabbout, Rima; + view all (2022) ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia 10.1111/epi.17239. Green open access
file

This list was generated on Tue Dec 17 19:04:42 2024 GMT.