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Number of items: 100.
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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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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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).
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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
10.1111/epi.17513.
(In press).
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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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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
10.1111/epi.17637.
(In press).
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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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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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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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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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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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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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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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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
(5)
pp. 447-462.
10.1016/j.nmd.2023.04.005.
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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.
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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.
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N
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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).
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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.
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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).
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O
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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
10.1002/ncp.10940.
(In press).
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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.
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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).
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P
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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).
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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)
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