Zobrazeno 1 - 10
of 11
pro vyhledávání: '"J. G. Gleeson"'
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 21, Iss 1, Pp 1-5 (2020)
Abstract Background Spastic paraplegia 11 (SPG11) is defined as progressive spasticity and weakness of the lower limbs and also associated with mild intellectual disability with learning difficulties in childhood and/or progressive cognitive retardat
Externí odkaz:
https://doaj.org/article/49a34e603f9742598b37495aa9c3cdf3
Publikováno v:
Egyptian Journal of Medical Human Genetics, Vol 21, Iss 1, Pp 1-5 (2020)
Background Spastic paraplegia 11 (SPG11) is defined as progressive spasticity and weakness of the lower limbs and also associated with mild intellectual disability with learning difficulties in childhood and/or progressive cognitive retardation, peri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::11eee691062825086c042870a421349d
https://doi.org/10.1186/s43042-020-00072-6
https://doi.org/10.1186/s43042-020-00072-6
Additional file 1:. CARE Checklist of information to include when writing a case report
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17d46c14f525a38aaa31a6481db9df64
Autor:
V, Conti, M, Pantaleo, C, Barba, G, Baroni, D, Mei, A M, Buccoliero, S, Giglio, F, Giordano, S T, Baek, J G, Gleeson, R, Guerrini
Publikováno v:
Clinical genetics. 88(3)
Somatic and germline duplications or activating mutations of AKT3 have been reported in patients with hemimegalencephaly and megalencephaly. We performed array comparative genomic hybridization on brain tissue and blood in 16 consecutive patients wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4b72c552fa774f34c1ecd469bfea2d01
https://pubmed.ncbi.nlm.nih.gov/25091978
https://pubmed.ncbi.nlm.nih.gov/25091978
Autor:
J G, Gleeson, R F, Luo, P E, Grant, R, Guerrini, P R, Huttenlocher, M J, Berg, S, Ricci, R, Cusmai, J W, Wheless, S, Berkovic, I, Scheffer, W B, Dobyns, C A, Walsh
Publikováno v:
Annals of neurology. 47(2)
Mutations in the X-linked doublecortin gene appear in many sporadic cases of double cortex (DC; also known as subcortical band heterotopia), a neuronal migration disorder causing epilepsy and mental retardation. The purpose of this study was to exami
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::6904550f4b985ad93fcc94d9fceb5737
https://pubmed.ncbi.nlm.nih.gov/10665503
https://pubmed.ncbi.nlm.nih.gov/10665503
Autor:
J G, Gleeson, S R, Minnerath, J W, Fox, K M, Allen, R F, Luo, S E, Hong, M J, Berg, R, Kuzniecky, P J, Reitnauer, R, Borgatti, A P, Mira, R, Guerrini, G L, Holmes, C M, Rooney, S, Berkovic, I, Scheffer, E C, Cooper, S, Ricci, R, Cusmai, T O, Crawford, R, Leroy, E, Andermann, J W, Wheless, W B, Dobyns, C A, Walsh
Publikováno v:
Annals of neurology. 45(2)
Mutations in the X-linked gene doublecortin, which encodes a protein with no dear structural homologues, are found in pedigrees in which affected females show "double cortex" syndrome (DC; also known as subcortical band heterotopia or laminar heterot
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::dc3dca58538810b1c021e42d6fc50730
https://pubmed.ncbi.nlm.nih.gov/9989613
https://pubmed.ncbi.nlm.nih.gov/9989613
Autor:
J. G. Gleeson, C. A. Walsh
Publikováno v:
Research and Perspectives in Neurosciences ISBN: 9783642645907
The pace of our understanding of cortical development has increased in recent years due in part to the availability of improved genetic resources. Whereas studies of neuronal proliferation and cell fate determination have been principally advanced by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c1e0f3b7841fe957276cb679c48424cb
https://doi.org/10.1007/978-3-642-60861-2_9
https://doi.org/10.1007/978-3-642-60861-2_9
Publikováno v:
Archives of Disease in Childhood. 63:900-904
The effects of nebulised salbutamol driven by compressed air or oxygen were compared in a randomised crossover study during 27 attacks of acute asthma. Arterial oxygen saturation fell by 2-6% during or after treatment in 10 cases: seven with compress
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3aff21ac09c969d2f49d2223daee1257
https://doi.org/10.1136/adc.63.8.900
https://doi.org/10.1136/adc.63.8.900
Akademický článek
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Autor:
J. G. Gleeson
Publikováno v:
The British Journal of Radiology. 41:400-400
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a093d0eea4148945c5f7324434a8a0bb
https://doi.org/10.1259/0007-1285-41-485-400-b
https://doi.org/10.1259/0007-1285-41-485-400-b