Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Theodora Markati"'
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-31 (2023)
Abstract Developing drugs for rare diseases is challenging, and the precision and objectivity of outcome measures is critical to this process. In recent years, a number of technologies have increasingly been used for remote monitoring of patient heal
Externí odkaz:
https://doaj.org/article/99595611dc9b478eae63922e284ab4fc
Publikováno v:
Frontiers in Pharmacology, Vol 12 (2021)
Duchenne muscular dystrophy (DMD) is an X-linked condition caused by a deficiency of functional dystrophin protein. Patients experience progressive muscle weakness, cardiomyopathy and have a decreased life expectancy. Standards of care, including tre
Externí odkaz:
https://doaj.org/article/03a2715c245c4f06ba3b8a4045eed0a8
Autor:
Theodora Markati, Maryam Oskoui, Michelle A Farrar, Tina Duong, Nathalie Goemans, Laurent Servais
Publikováno v:
The Lancet Neurology. 21:814-829
Duchenne muscular dystrophy is an X-linked disease caused by the absence of functional dystrophin in the muscle cells. Major advances have led to the development of gene therapies, tools that induce exon skipping, and other therapeutic approaches, in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::820ad3542d282c18a7729900e4d102ab
https://doi.org/10.1016/s1474-4422(22)00125-9
https://doi.org/10.1016/s1474-4422(22)00125-9
Autor:
Gemma Fisher, Laurane Mackels, Theodora Markati, Anna Sarkozy, Julien Ochala, Heinz Jungbluth, Sithara Ramdas, Laurent Servais
Publikováno v:
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/10.1080/14728222.2022.2157258
IntroductionNemaline myopathies (NM) represent a group of clinically and genetically heterogeneous congenital muscle disorders with the common denominator of nemaline rods on muscle biopsy. NEB and ACTA1 are the most common causative genes. Currently
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::317823731c43bc6ab9b3722bd63ca58a
https://pubmed.ncbi.nlm.nih.gov/36524401
https://pubmed.ncbi.nlm.nih.gov/36524401
Spinal muscular atrophy (SMA) is a rare autosomal recessive neuromuscular disease which is characterised by muscle atrophy and early death in most patients. Risdiplam is the third overall and first oral drug approved for SMA with disease-modifying po
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::976ac9370fb2c9052d14bb451691c3d0
Publikováno v:
Expert opinion on investigational drugs. 30(7)
Introduction: Angelman syndrome is a rare genetic neurodevelopmental disorder, caused by deficiency or abnormal function of the maternal ubiquitin protein-ligase E3A, known as UBE3A, in the central...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bee63c6b1325f56e4cb3abdc1341d94
https://pubmed.ncbi.nlm.nih.gov/34112038
https://pubmed.ncbi.nlm.nih.gov/34112038
Autor:
Seetha Shankaran, Natasha Liow, Russell Pryce, Paolo Montaldo, Aung Soe, Justinas Teiserskas, Theodora Markati, Vânia Oliveira, Ujwal Kariholu, Sudhin Thayyil, Peter J Lally
Publikováno v:
Archives of Disease in Childhood - Fetal and Neonatal Edition. 105:225-228
ObjectivesTo examine if therapeutic hypothermia reduces the composite outcome of death, moderate or severe disability at 18 months or more after mild neonatal encephalopathy (NE).Data sourceMEDLINE, Cochrane database, Scopus and ISI Web of Knowledge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ee96cd27232509a0719ea2c5948d4f70
https://doi.org/10.1136/archdischild-2018-315711
https://doi.org/10.1136/archdischild-2018-315711
Autor:
Anuj Vakharia, Vania Oliveira, Theodora Markati, Sudhin Thayyil, Phoebe Ivain, Josephine Mendoza, Paolo Montaldo, Seetha Shankaran
Morphine is commonly used in neonates with hypothermic ischemic encephalopathy (HIE) during therapeutic hypothermia to provide comfort and analgesia. However, pharmacokinetic data to support morphine dosing in this vulnerable population are lacking.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9611036e1a027d68b4a0a55adfe05bd5
http://hdl.handle.net/10044/1/69853
http://hdl.handle.net/10044/1/69853