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Number of items: 126.
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.
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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.
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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.
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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.
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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.
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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.
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B
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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.
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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.
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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.
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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).
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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).
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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).
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C
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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.
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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.
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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.
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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).
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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).
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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.
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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.
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D
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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.
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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.
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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.
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Di Stasi, M;
Mankad, K;
Carney, O;
Loebel, U;
Biswas, A;
Sudhakar, S;
Kinsler, V;
(2023)
Congenital melanocytic naevus syndrome and Dandy-Walker malformation — a mistaken association: case report and literature review.
Neuroradiology
, 65
(6)
pp. 1077-1086.
10.1007/s00234-023-03150-9.
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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.
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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.
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E
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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).
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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.
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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).
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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).
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F
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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.
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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.
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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).
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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.
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G
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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.
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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.
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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).
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H
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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.
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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.
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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.
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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.
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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.
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J
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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.
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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.
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K
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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.
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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).
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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.
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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.
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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.
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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).
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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.
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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).
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L
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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).
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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.
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M
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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.
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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.
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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.
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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.
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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).
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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.
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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
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Validation of the Parent-Proxy Version of the Pediatric Charcot-Marie-Tooth Disease Quality of Life Instrument for children aged 0-7 years.
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