Browse by UCL Departments and Centres
Group by: Author | Type
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.
|
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.
|
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).
|
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.
|
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.
|
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.
|
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).
|
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.
|
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.
|
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.
|
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.
|
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).
|
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.
|
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.
|
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.
|
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.
|
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).
|
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).
|
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).
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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).
|
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.
|
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).
|
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.
|
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.
|
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.
|
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).
|
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).
|
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).
|
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.
|
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.
|
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.
|
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.
|
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).
|
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.
|
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.
|
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.
|
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.
|
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.
|
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).
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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).
|
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.
|
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).
|
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.
|
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.
|
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.
|
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.
|
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).
|
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).
|
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).
|
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.
|
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.
|
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.
|
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).
|
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.
|
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.
|
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.
|
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.
|
Mariot, Virginie;
Dumonceaux, Julie;
(2022)
Gene Editing to Tackle Facioscapulohumeral Muscular Dystrophy.
Frontiers in Genome Editing
, 4
, Article 937879. 10.3389/fgeed.2022.937879.
|
Marrosu, Elena;
(2022)
Characterisation of a novel interaction of dystrophin with caveolae in the heart.
Doctoral thesis (Ph.D), UCL (University College London).
|
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.
|
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.
|
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).
|
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.
|
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).
|
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).
|
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).
|
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.
|
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.
|
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.
|
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.
|
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).
|
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).
|
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.
|
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.
|
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.
|
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).
|
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.
|
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).
|
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).
|
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.
|
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.
|
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.
|
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).
|
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.
|
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).
|
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.
|
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.
|
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.
|
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.
|
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.
|
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).
|
Pressler, Ronit M;
Boylan, Geraldine B;
(2022)
Translational neonatal seizure research - a reality check.
Epilepsia
, 63
(7)
pp. 1874-1879.
10.1111/epi.17276.
|
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.
|
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.
|
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.
|
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).
|
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.
|
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.
|
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.
|
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.
|
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.
|
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).
|
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.
|
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.
|
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.
|
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.
|
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.
|
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).
|
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).
|
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).
|
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).
|
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.
|
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).
|
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.
|
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).
|
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.
|
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.
|
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).
|
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).
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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.
|
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).
|
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.
|
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).
|
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.
|
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.
|
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.
|
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).
|
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.
|
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.
|
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.
|
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.
|
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.
|
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).
|
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.
|
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.
|
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).
|
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.
|
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.
|