المؤلفون: Poleur, Margaux, Markati, Theodora, Servais, Laurent

المصدر: Orphanet Journal of Rare Diseases, 18 (1), 224 (2023-08-02)

مصطلحات موضوعية: Humans, Rare Diseases, Outcome Assessment, Health Care, Genetics (clinical), Pharmacology (medical), General Medicine, Human health sciences, Neurology, Sciences de la santé humaine, Neurologie

العلاقة: https://link.springer.com/content/pdf/10.1186/s13023-023-02813-3.pdfTest; urn:issn:1750-1172

الوصول الحر: https://orbi.uliege.be/handle/2268/308401Test

المؤلفون: Horton, Rebecca H, Saade, Dimah, Markati, Theodora, Harriss, Elinor, Bonnemann, Carsten G, Muntoni, Francesco, Servais, Laurent

المصدر: Journal of Neurology, Neurosurgery & Psychiatry (2022) (In press).

مصطلحات موضوعية: Science & Technology, Life Sciences & Biomedicine, Clinical Neurology, Psychiatry, Surgery, Neurosciences & Neurology, SPINAL MUSCULAR-ATROPHY, ACID DECARBOXYLASE DEFICIENCY, 1/2 CLINICAL-TRIAL, ONASEMNOGENE ABEPARVOVEC, OPEN-LABEL, IMMUNE-RESPONSES, REPLACEMENT THERAPY, SINGLE-ARM, FACTOR-IX, PHASE-I

وصف الملف: text

العلاقة: https://discovery.ucl.ac.uk/id/eprint/10157751/1/Muntoni_AAV%20Gene%20Therapy%20Final%20for%20Open%20Access%20%28without%20tables%29.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10157751/2/Muntoni_Tables%20for%20SRAAV%2037.pdfTest; https://discovery.ucl.ac.uk/id/eprint/10157751Test/

الإتاحة: https://discovery.ucl.ac.uk/id/eprint/10157751/1/Muntoni_AAV%20Gene%20Therapy%20Final%20for%20Open%20Access%20%28without%20tables%29.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10157751/2/Muntoni_Tables%20for%20SRAAV%2037.pdfTest
https://discovery.ucl.ac.uk/id/eprint/10157751Test/

المؤلفون: Fisher, Gemma, Mackels, Laurane, Markati, Theodora, Sarkozy, Anna, Ochala, Julien, Jungbluth, Heinz, Ramdas, Sithara, Servais, Laurent

المصدر: Fisher , G , Mackels , L , Markati , T , Sarkozy , A , Ochala , J , Jungbluth , H , Ramdas , S & Servais , L 2022 , ' Early clinical and pre-clinical therapy development in Nemaline myopathy ' , Expert Opinion On Therapeutic Targets , vol. 26 , no. 10 , pp. 853–867 . https://doi.org/10.1080/14728222.2022.2157258Test

مصطلحات موضوعية: Congenital myopathy, NEB, ACTA1, gene therapy, exon skipping, myostatin, fast troponin activators, pyridostigmine, SKELETAL-MUSCLE TROPONIN, CONGENITAL MYOPATHIES, NEUROMUSCULAR-TRANSMISSION, PROTEIN-KINASE, GENE-THERAPY, NEBULIN GENE, MUTATION, GROWTH, PHENOTYPE, ACTIVATION

وصف الملف: application/pdf

الإتاحة: https://doi.org/10.1080/14728222.2022.2157258Test
https://curis.ku.dk/portal/da/publications/early-clinical-and-preclinical-therapy-development-in-nemaline-myopathyTest(d2757ffb-9350-4de4-a405-4dfd7b415df1).html
https://curis.ku.dk/ws/files/334265634/Early_clinical_and_pre_clinical_therapy_development_in_Nemaline_myopathy.pdfTest

المؤلفون: Markati, Theodora, Fisher, Gemma, Ramdas, Sithara, Servais, Laurent

المساهمون: Onassis Foundation

المصدر: Expert Opinion on Investigational Drugs ; volume 31, issue 5, page 451-461 ; ISSN 1354-3784 1744-7658

الإتاحة: https://doi.org/10.1080/13543784.2022.2056836Test

المؤلفون: Markati, Theodora, Duis, Jessica, Servais, Laurent

المساهمون: Foundation for Angelman Syndrome Therapeutics

المصدر: Expert Opinion on Investigational Drugs ; volume 30, issue 7, page 709-720 ; ISSN 1354-3784 1744-7658

الإتاحة: https://doi.org/10.1080/13543784.2021.1939674Test

المؤلفون: Markati, Theodora, De Waele, Liesbeth, Schara-Schmidt, Urlike, Servais, Laurent

المساهمون: Alexander S. Onassis Public Benefit Foundation

المصدر: Frontiers in Pharmacology ; volume 12 ; ISSN 1663-9812

الإتاحة: https://doi.org/10.3389/fphar.2021.735912Test

المؤلفون: Kariholu, Ujwal, Montaldo, Paolo, Markati, Theodora, Lally, Peter J, Pryce, Russell, Teiserskas, Justinas, Liow, Natasha, Oliveira, Vânia, Soe, Aung, Shankaran, Seetha, Thayyil, Sudhin

مصطلحات موضوعية: Short reports

وصف الملف: text/html

العلاقة: http://fn.bmj.com/cgi/content/short/105/2/225Test; http://dx.doi.org/10.1136/archdischild-2018-315711Test

الإتاحة: https://doi.org/10.1136/archdischild-2018-315711Test
http://fn.bmj.com/cgi/content/short/105/2/225Test

المؤلفون: Montaldo, Paolo, Vakharia, Anuj, Ivain, Phoebe, Mendoza, Josephine, Oliveira, Vania, Markati, Theodora, Shankaran, Seetha, Thayyil, Sudhin

مصطلحات موضوعية: PostScript

وصف الملف: text/html

العلاقة: http://fn.bmj.com/cgi/content/short/105/1/108Test; http://dx.doi.org/10.1136/archdischild-2019-317050Test

الإتاحة: https://doi.org/10.1136/archdischild-2019-317050Test
http://fn.bmj.com/cgi/content/short/105/1/108Test

المؤلفون: Markati, Theodora, Oskoui, Maryam, Farrar, Michelle A, Duong, Tina, Goemans, Nathalie, Servais, Laurent

المصدر: The Lancet Neurology, 21 (9), 814 - 829 (2022-09)

مصطلحات موضوعية: Dystrophin, Exons, Genetic Therapy, Genotype, Humans, Muscular Dystrophy, Duchenne, Neurology (clinical), Human health sciences, Neurology, Pediatrics, Sciences de la santé humaine, Neurologie, Pédiatrie

العلاقة: https://api.elsevier.com/content/article/PII:S1474442222001259?httpAccept=text/xmlTest; urn:issn:1474-4422; urn:issn:1474-4465

الوصول الحر: https://orbi.uliege.be/handle/2268/295910Test

المؤلفون: Montaldo, Paolo, Vakharia, Anuj, Ivain, Phoebe, Mendoza, Josephine, Oliveira, Vania, Markati, Theodora, Shankaran, Seetha, Thayyil, Sudhin

المساهمون: National Institute for Health Research, Medical Research Council

المصدر: Archives of Disease in Childhood - Fetal and Neonatal Edition ; volume 105, issue 1, page 108-109 ; ISSN 1359-2998 1468-2052

الإتاحة: https://doi.org/10.1136/archdischild-2019-317050Test