Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Lisanne, Woudt"'
Autor:
A. Trangulao, Claudia Castiglioni, Mario Campero, Patricio Gonzalez-Hormazabal, Lisanne Woudt, Ricardo Hughes, Jon Andoni Urtizberea, Gabriella A. Di Capua, Jorge A. Bevilacqua, Lilian Jara, Martin Krahn, Raúl Godoy-Herrera, Nicolas Lévy
Publikováno v:
Muscle & Nerve. 53:49-57
Introduction Understanding the natural history of dysferlinopathy is essential to design and quantify novel therapeutic protocols. Our aim in this study was to assess, clinically and functionally, a cohort of patients with dysferlinopathy, using vali
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::166848bcc9f60b65c97653a26f21dd8e
https://doi.org/10.1002/mus.24685
https://doi.org/10.1002/mus.24685
Autor:
Jorge, Díaz, Lisanne, Woudt, Lionel, Suazo, Cristián, Garrido, Pablo, Caviedes, Ana M, CÁrdenas, Claudia, Castiglioni, Jorge A, Bevilacqua
Publikováno v:
Musclenerve. 54(2)
MRI characterization of dysferlinopathy has been mostly limited to the lower limbs. We aimed to broaden the MRI description of dysferlinopathy and to correlate it with objective measures of motor dysfunction.Sequential whole-body axial MRI was perfor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::9cec4e6d0a9431dc23d4e7ebbaf38511
https://pubmed.ncbi.nlm.nih.gov/26800485
https://pubmed.ncbi.nlm.nih.gov/26800485
Autor:
Lisanne, Woudt, Gabriella A, Di Capua, Martin, Krahn, Claudia, Castiglioni, Ricardo, Hughes, Mario, Campero, Alejandra, Trangulao, Patricio, González-Hormazábal, Raúl, Godoy-Herrera, Nicolas, Lévy, Jon Andoni, Urtizberea, Lilian, Jara, Jorge A, Bevilacqua
Publikováno v:
Musclenerve. 53(1)
Understanding the natural history of dysferlinopathy is essential to design and quantify novel therapeutic protocols. Our aim in this study was to assess, clinically and functionally, a cohort of patients with dysferlinopathy, using validated scales.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5c305dd84a8736d55ce04f6f359a0b31
https://pubmed.ncbi.nlm.nih.gov/25900324
https://pubmed.ncbi.nlm.nih.gov/25900324
Autor:
Jorge A. Bevilacqua, Lisanne Woudt, Mario Campero, Patricio Gonzalez-Hormazabal, Lilian Jara, Jorge Díaz, Ricardo Hughes, Claudia Castiglioni, B. Velásquez, Martin Krahn, Raúl Godoy-Herrera, Nicolas Lévy, G.A. Di Capua
Publikováno v:
Neuromuscular Disorders. 23:765
Mutations in the dysferlin gene lead to LGMD2B and Miyoshi myopathy among other phenotypes. We describe a cohort of 30 patients, from 24 non-related Chilean families, harbouring point mutations in the DYSF gene. Diagnosis was based on clinical findin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e8ab9e18f3bde3b16f044a7e76eb89e5
https://doi.org/10.1016/j.nmd.2013.06.457
https://doi.org/10.1016/j.nmd.2013.06.457
Autor:
Jorge Díaz, Claudia Castiglioni, Lionel Suazo, Lisanne Woudt, Jorge A. Bevilacqua, Cristian Garrido
Publikováno v:
Neuromuscular Disorders. 23:764
To assess the natural course of dysferlinopathy, a cohort of 27 patients with genetically confirmed diagnosis underwent a whole body MRI scanning at distinct stages of disease. MRI scans were performed on a 1.5T Siemens equipment. Axial T1W and STIR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6593fc1b5d1a12d6344b39822d84d843
https://doi.org/10.1016/j.nmd.2013.06.455
https://doi.org/10.1016/j.nmd.2013.06.455