Zobrazeno 1 - 10
of 69
pro vyhledávání: '"S, Sumathipala"'
Autor:
D.H. Hettige, M.R.P. Weerawansa, H.M.S. Senanayake, S. Sumathipala, R.T. Rupasinghe, M.C. Caldera
Publikováno v:
Sri Lanka Journal of Neurology. 8:20-22
Ramsay Hunt syndrome type 2, also known as RHS and herpes zoster oticus, is a disorder that is caused by the reactivation of varicella zoster virus in the geniculate ganglion, a nerve cell bundle of the facial nerve. RHS typically presents with inabi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::dd1784e534d6c7f42a19f483523e8a71
https://doi.org/10.4038/sljon.v8i1.29
https://doi.org/10.4038/sljon.v8i1.29
Autor:
Dan Doherty, Nadine Bachmann, Rachel H. Giles, Erica E. Davis, Asbjørn Holmgren, Dulika S. Sumathipala, Barbara Käsmann-Kellner, Lokuliyange D S Senaratne, Suzanne Crowley, Sebastian Patzke, Nicholas Katsanis, Petter Strømme, Daniel Epting, Christian Decker, Kari-Anne M Frikstad, Carsten Bergmann, Manuela Zucknick, Diana Bracht, Tuva Barøy, Elisabeth Ott, Eva Decker, Soeren S. Lienkamp, Doriana Misceo, Ian G. Phelps, Heymut Omran, Miriam Schmidts, Alma Sikiric, Selma Mujezinovic Larsen, Julia Wallmeier, Eirik Frengen
Publikováno v:
Human Mutation
Ciliopathies are clinically and genetically heterogeneous diseases. We studied three patients from two independent families presenting with features of Joubert syndrome: abnormal breathing pattern during infancy, developmental delay/intellectual disa
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff060a6ff69fa03ce10682a61d2879e7
https://doi.org/10.1002/humu.24127
https://doi.org/10.1002/humu.24127
Autor:
Dulika S. Sumathipala, Tuva Barøy, Thilini H. Gamage, Selma Mujezinovic Larsen, Eirik Frengen, Doriana Misceo, Petter Strømme
Publikováno v:
Clinical Dysmorphology. 29:107-110
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::644a485aa9055f7985192c24e4422bd5
https://doi.org/10.1097/mcd.0000000000000314
https://doi.org/10.1097/mcd.0000000000000314
Autor:
Eranga S Wijewickrama, Dinushi Weerasinghe, Pubudu S Sumathipala, Charith Horadagoda, Rushika D Lanarolle, Rezvi MH. Sheriff
Publikováno v:
Saudi Journal of Kidney Diseases and Transplantation, Vol 22, Iss 6, Pp 1289-1293 (2011)
Chronic kidney disease (CKD) is a growing problem in Sri Lanka. Diabetes and hypertension are the main contributors to the disease burden. A new form of CKD of uncertain etiology (CKD-u) is the predominant form of CKD in certain parts of Sri Lanka, t
Externí odkaz:
https://doaj.org/article/382ebbac1ad44b6fb39a1578bd8128a8
Autor:
M. A. F. A. Akram, W. M. Asmir, H. Abeysekera, D. S. Gunasekara, K. B. D. Wimalaratne, S. Sumathipala
Publikováno v:
Sri Lankan Journal of Infectious Diseases. 12:4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::bdbb529944600cca2a31f86e24d316fa
https://doi.org/10.4038/sljid.v12i0.8551
https://doi.org/10.4038/sljid.v12i0.8551
Autor:
S. P. Somathilaka, N. T. Senarathna, H. E. Hewapathirana, W. M. K. S. Sumathipala, K. T. M. U. Hemapala, J. R. Lucas, P. S. N. De Silva
Publikováno v:
Engineer: Journal of the Institution of Engineers, Sri Lanka. 55:63
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::786cb375671aff388d9d085ba2cdf369
https://doi.org/10.4038/engineer.v55i2.7509
https://doi.org/10.4038/engineer.v55i2.7509
Autor:
Madeleine Fannemel, Dulika S. Sumathipala, Andres Server, Bjørnar Hassel, Christian Gilissen, Ingunn Holm Einarsen, Hilde Johanne Bjørndalen, Eirik Frengen, Doriana Misceo, Petter Strømme, Jordi Corominas
Publikováno v:
BMC Medical Genetics, 21
BMC Medical Genetics, 21, 1
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
BMC Medical Genetics
BMC Medical Genetics, 21, 1
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-6 (2020)
BMC Medical Genetics
Background Joubert syndrome (JBTS) is a genetically heterogeneous group of neurodevelopmental syndromes caused by primary cilia dysfunction. Usually the neurological presentation starts with abnormal neonatal breathing followed by muscular hypotonia,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::639132d8097416bb953c43081a412b7a
http://hdl.handle.net/2066/220478
http://hdl.handle.net/2066/220478
Autor:
Eirik Frengen, Christian Gilissen, Petter Strømme, Doriana Misceo, Jordi Corominas, Dulika S. Sumathipala
Publikováno v:
Pediatric Neurology, 96, 74-75
Pediatric Neurology, 96, pp. 74-75
Pediatric Neurology, 96, pp. 74-75
Item does not contain fulltext
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87ac904103cd9be98ca6641382753e84
http://hdl.handle.net/2066/206725
http://hdl.handle.net/2066/206725
Autor:
Hailey Findlay-Black, Nicholas S. Caron, Fiona Baine, Jennifer A. Collins, Chris Kay, Dulika S. Sumathipala, Luciana de Andrade Agostinho, Jacquie Greenberg, Amanda Krause, Carmen Lucia Antão Paiva, Ferdinando Squitieri, Vajira H. W. Dissanayake, Lorenzo Casal, Mario Cornejo-Olivas, Michael R. Hayden
Publikováno v:
Am J Hum Genet
Huntington disease (HD) is a fatal neurodegenerative disorder caused by a gain-of-function mutation in HTT. Suppression of mutant HTT has emerged as a leading therapeutic strategy for HD, with allele-selective approaches targeting HTT SNPs now in cli
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5ef346afafc6f60e7717eac01e5951a4
https://hdl.handle.net/20.500.12866/7499
https://hdl.handle.net/20.500.12866/7499
Publikováno v:
Pathology, Prevention and Therapeutics of Neurodegenerative Disease ISBN: 9789811309434
Neurodegeneration is the progressive loss of function of neurons and an inescapable event in incurable diseases involving Huntington Disease (HD), Parkinson Disease (PD), and Alzheimer Disease (AD). These and other such diseases share similar pathoge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d8380c1330b18926d6abde4bc470f3ab
https://doi.org/10.1007/978-981-13-0944-1_7
https://doi.org/10.1007/978-981-13-0944-1_7