Browse by UCL Departments and Centres
Group by: Author | Type
Number of items: 164.
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;
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Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial.
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Highlighting the Dystonic Phenotype Related to GNAO1.
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Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.
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Microvasculopathy in SMA is driven by a reversible autonomous endothelial cell defect.
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ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions.
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