Zobrazeno 1 - 10
of 368
pro vyhledávání: '"G. Meneguzzi"'
Autor:
Eric, Alton, Stefano, Ferrari, Uta, Griesenbach, A, Aiuti, A C, Bachoud-Lévi, A, Blesch, M K, Brenner, F, Cattaneo, E A, Chiocca, G, Gao, K A, High, A M, Leen, N R, Lemoine, I A, McNeish, G, Meneguzzi, M, Peschanski, M G, Roncarolo, D S, Strayer, M H, Tuszynski, D J, Waxman, J M, Wilson
Publikováno v:
Gene Therapy. 14:1555-1563
This is the second part of a review summarizing progress and prospects in gene therapy clinical research. Twenty key diseases/strategies are succinctly described and commented on by leaders in the field. This part includes clinical trials for skin di
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6afd401ec8bec5c238d348bc98e0aa46
https://doi.org/10.1038/sj.gt.3303033
https://doi.org/10.1038/sj.gt.3303033
Akademický článek
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Autor:
J.R. MCMILLAN, J.A. MCGRATH, L. PULKKINEN, A. KON, R.E. BURGESON, J-P. ORTONNE, G. MENEGUZZI, J. UITTO, R.A.J. EADY
Publikováno v:
British Journal of Dermatology. 136:817-822
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f80505e5c1a74e3ead30cb6c851b3a68
https://doi.org/10.1111/j.1365-2133.1997.tb03918.x
https://doi.org/10.1111/j.1365-2133.1997.tb03918.x
Autor:
A, Charlesworth, C, Chiaverini, J, Chevrant-Breton, M, DelRio, A, Diociaiuti, R P, Dupuis, M, El Hachem, B, Le Fiblec, A M, Sankari-Ho, A, Valhquist, E, Wierzbicka, J P, Lacour, G, Meneguzzi
Publikováno v:
The British journal of dermatology. 168(4)
Genetic mutations in the plectin gene (PLEC) cause autosomal recessive forms of epidermolysis bullosa simplex (EBS) associated with either muscular dystrophy (EBS-MD) or pyloric atresia (EBS-PA). Phenotype-genotype analysis has suggested that EBS-MD
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9e2d9bf51d44994a3e75d2dc60b0fc94
https://pubmed.ncbi.nlm.nih.gov/23289980
https://pubmed.ncbi.nlm.nih.gov/23289980
Autor:
S. Kivirikko, J. A. McGrath, C. Baudoin, D. Aberdam, S. Ciatti, M. G. S. Dunnill, J. R. McMillan, R. A. J. Eady, J.-P. Ortonne, G. Meneguzzi, J. Ultto, A. M. Christiano
Publikováno v:
Human Molecular Genetics. 4:959-962
The inherited mechanobullous disorder, junctional epidermolysis bullosa (JEB), is characterized by extensive blistering and erosions of the skin and mucous membranes. The diagnostic hallmarks of JEB include ultrastructural abnormalities in the hemide
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a565889ccb7454b9c22a80da69dfcdd6
https://doi.org/10.1093/hmg/4.5.959
https://doi.org/10.1093/hmg/4.5.959
Autor:
M J, Escámez, M, García, N, Cuadrado-Corrales, S G, Llames, A, Charlesworth, N, De Luca, N, Illera, C, Sánchez-Jimeno, A, Holguín, B, Duarte, M J, Trujillo-Tiebas, J L, Vicario, J L, Santiago, A, Hernández-Martín, A, Torrelo, D, Castiglia, C, Ayuso, F, Larcher, J L, Jorcano, A, Meana, G, Meneguzzi, G, Zambruno, M, Del Rio
Publikováno v:
The British journal of dermatology. 163(1)
Dystrophic epidermolysis bullosa (DEB) is a genodermatosis caused by mutations in COL7A1. The clinical manifestations are highly variable from nail dystrophy to life-threatening blistering, making early molecular diagnosis and prognosis of utmost imp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4a64e97fa8242415b41e081a4bf728fc
https://pubmed.ncbi.nlm.nih.gov/20184583
https://pubmed.ncbi.nlm.nih.gov/20184583
Autor:
A-C, Bursztejn, A-L, Pinault, Y, Le Louarn, J-P, Lacour, A, Charlesworth, G, Meneguzzi, F, Truchetet
Publikováno v:
Annales de dermatologie et de venereologie. 135(3)
Dystrophic epidermolysis bullosa is a hereditary heterogeneous blistering disease. Clinical examination and additional tests are not always sufficient to identify the subtype or mode of transmission. We describe a case of de novo dominant inherited d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ea174dbd7aa0e4021071b89291696611
https://pubmed.ncbi.nlm.nih.gov/18374850
https://pubmed.ncbi.nlm.nih.gov/18374850
Publikováno v:
Annales de dermatologie et de venereologie. 132(6-7 Pt 1)
Junctional epidermolysis bullosa (JEB) represents a genetically heterozygous group of bullous disorders characterized by dermo-epidermal separation resulting from mutations affecting the main dermo-epidermal adhesion factor, laminin-5, its cellular r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3cdd3645682e48fed358b5188dd3b31c
https://pubmed.ncbi.nlm.nih.gov/16142104
https://pubmed.ncbi.nlm.nih.gov/16142104
Autor:
Joëlle Vailly, G. Meneguzzi
Publikováno v:
The Skin and Gene Therapy ISBN: 9783642630934
The notion of transferring a gene encoding a therapeutic protein and the design of vectors enabling the introduction of a curative transgene into eukaryotic cells emerged as soon as the first single-gene defects associated with inherited diseases wer
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::00f52a95c5008af6c3d13f63ee3d726c
https://doi.org/10.1007/978-3-642-56441-3_7
https://doi.org/10.1007/978-3-642-56441-3_7
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.