Výsledky vyhledávání - "Sten Andreasson"

Akademický článek

Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC

Autor: Angèle Tingaud-Sequeira, Demetrio Raldúa, Julie Lavie, Guilaine Mathieu, Magali Bordier, Anja Knoll-Gellida, Pierre Rambeau, Isabelle Coupry, Michèle André, Eva Malm, Claes Möller, Sten Andreasson, Nanna D. Rendtorff, Lisbeth Tranebjærg, Michel Koenig, Didier Lacombe, Cyril Goizet, Patrick J. Babin

Publikováno v: Neurobiology of Disease, Vol 98, Iss , Pp 36-51 (2017)

ABHD12 mutations have been linked to neurodegenerative PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract), a rare, progressive, autosomal, recessive disease. Although ABHD12 is suspected to play a role in the

Externí odkaz: https://doaj.org/article/758f697767cc456fb129803b2625c7b9

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Akademický článek

Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.

Publikováno v: PLoS ONE, Vol 11, Iss 1, p e0145951 (2016)

Retinal dystrophies (RD) constitute a group of blinding diseases that are characterized by clinical variability and pronounced genetic heterogeneity. The different nonsyndromic and syndromic forms of RD can be attributed to mutations in more than 200

Externí odkaz: https://doaj.org/article/3266adb14a06463ea339fc8ac073fe8e

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The landscape of submicroscopic structural variants at the

Publikováno v: Proceedings of the National Academy of Sciences of the United States of America. 119(27)

Blue cone monochromacy (BCM) is an X-linked retinal disorder characterized by low vision, photoaversion, and poor color discrimination. BCM is due to the lack of long-wavelength-sensitive and middle-wavelength-sensitive cone photoreceptor function an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::854ca362c236a15485c67d19c6c2b2a6
https://pubmed.ncbi.nlm.nih.gov/35759666

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Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

Autor: Maria Solaki, Britta Baumann, Peggy Reuter, Sten Andreasson, Isabelle Audo, Carmen Ayuso, Ghassan Balousha, Francesco Benedicenti, David Birch, Pierre Bitoun, Delphine Blain, Beatrice Bocquet, Kari Branham, Jaume Català‐Mora, Elfride De Baere, Helene Dollfus, Mohammed Falana, Roberto Giorda, Irina Golovleva, Irene Gottlob, John R. Heckenlively, Samuel G. Jacobson, Kaylie Jones, Herbert Jägle, Andreas R. Janecke, Ulrich Kellner, Petra Liskova, Birgit Lorenz, Loreto Martorell‐Sampol, André Messias, Isabelle Meunier, Fernanda Belga Ottoni Porto, Eleni Papageorgiou, Astrid S. Plomp, Thomy J. L. de Ravel, Charlotte M. Reiff, Agnes B. Renner, Thomas Rosenberg, Günther Rudolph, Roberto Salati, E. Cumhur Sener, Paul A. Sieving, Franco Stanzial, Elias I. Traboulsi, Stephen H. Tsang, Balázs Varsanyi, Richard G. Weleber, Ditta Zobor, Katarina Stingl, Bernd Wissinger, Susanne Kohl

Publikováno v: HUMAN MUTATION
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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Human Mutation, 43(7), 832-858. Wiley-Liss Inc.
Solaki, M, Baumann, B, Reuter, P, Andreasson, S, Audo, I, Ayuso, C, Balousha, G, Benedicenti, F, Birch, D, Bitoun, P, Blain, D, Bocquet, B, Branham, K, Català-Mora, J, de Baere, E, Dollfus, H, Falana, M, Giorda, R, Golovleva, I, Gottlob, I, Heckenlively, J R, Jacobson, S G, Jones, K, Jägle, H, Janecke, A R, Kellner, U, Liskova, P, Lorenz, B, Martorell-Sampol, L, Messias, A, Meunier, I, Belga Ottoni Porto, F, Papageorgiou, E, Plomp, A S, de Ravel, T J L, Reiff, C M, Renner, A B, Rosenberg, T, Rudolph, G N, Salati, R, Sener, E C, Sieving, P A, Stanzial, F, Traboulsi, E I, Tsang, S H, Varsanyi, B, Weleber, R G, Zobor, D, Stingl, K, Wissinger, B & Kohl, S 2022, ' Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia ', Human Mutation, vol. 43, no. 7, pp. 832-858 . https://doi.org/10.1002/humu.24371

Achromatopsia (ACHM) is a congenital cone photoreceptor disorder characterized by impaired color discrimination, low visual acuity, photosensitivity, and nystagmus. To date, six genes have been associated with ACHM (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13cafbc43970561d8125d8a63b8e563d
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=21318

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Optimizing the Form Function of Gun Propellants

Autor: Sten Andreasson

Publikováno v: 30th International Symposium on Ballistics.

Progressivity, i.e. gain in burning area, of multi-perforated propellant grains is graphically shown to have a maximum for certain dimension ratios. Form functions, amount of slivers, and optimum dimensions for some basic grain types are presented. T

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6ec756617fe1a8f78a146188fb39d3ca
https://doi.org/10.12783/ballistics2017/16865

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Akademický článek

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis

Autor: Daan M. Panneman, Rebekkah J. Hitti-Malin, Lara K. Holtes, Suzanne E. de Bruijn, Janine Reurink, Erica G. M. Boonen, Muhammad Imran Khan, Manir Ali, Sten Andréasson, Elfride De Baere, Sandro Banfi, Miriam Bauwens, Tamar Ben-Yosef, Béatrice Bocquet, Marieke De Bruyne, Berta de la Cerda, Frauke Coppieters, Pietro Farinelli, Thomas Guignard, Chris F. Inglehearn, Marianthi Karali, Ulrika Kjellström, Robert Koenekoop, Bart de Koning, Bart P. Leroy, Martin McKibbin, Isabelle Meunier, Konstantinos Nikopoulos, Koji M. Nishiguchi, James A. Poulter, Carlo Rivolta, Enrique Rodríguez de la Rúa, Patrick Saunders, Francesca Simonelli, Yasmin Tatour, Francesco Testa, Alberta A. H. J. Thiadens, Carmel Toomes, Anna M. Tracewska, Hoai Viet Tran, Hiroaki Ushida, Veronika Vaclavik, Virginie J. M. Verhoeven, Maartje van de Vorst, Christian Gilissen, Alexander Hoischen, Frans P. M. Cremers, Susanne Roosing

Publikováno v: Frontiers in Cell and Developmental Biology, Vol 11 (2023)

Introduction: Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are two groups of inherited retinal diseases (IRDs) where the rod photoreceptors degenerate followed by the cone photoreceptors of the retina. A genetic diagnosis for IRDs i

Externí odkaz: https://doaj.org/article/70773f087bee4d9ea754539e4fee1ac1

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Solid Propellants based on ADN and HTPB

Autor: Niklas Wingborg, Sten Andreasson, Carl Oscarson, Mattias Liljedahl, Marita Wanhatalo, John de Flon

Publikováno v: 47th AIAA/ASME/SAE/ASEE Joint Propulsion Conference & Exhibit.

The aim of this work was to perform an initial evaluation of ammonium dinitramide, ADN, as substitute for ammonium perchlorate, AP, in solid rocket propellants for large space launch boosters. This paper includes performance evaluation, curing and co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::baf5555c464a584c3cba757999cc8d7c
https://doi.org/10.2514/6.2011-6136

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Development of ADN-Based Minimum Smoke Propellants

Autor: John de Flon, Sten Andreasson, Carl Oscarsson, Mattias Liljedahl, Mats Johnsson, Åke Pettersson, Niklas Wingborg, Marita Wanhatalo

Publikováno v: 46th AIAA/ASME/SAE/ASEE Joint Propulsion Conference & Exhibit.

urrent minimum smoke double-base propellants used in tactical missiles contains lead compounds, such as lead resorcylate and lead maleate, to obtain the desired ballistic properties. Exposure to lead is associated with a number of acute and chronic h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::10390f64464c471199299906b8e5e4d6
https://doi.org/10.2514/6.2010-6586

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