Zobrazeno 1 - 10
of 478
pro vyhledávání: '"T. Darras"'
Publikováno v:
Hydrology and Earth System Sciences, Vol 19, Iss 10, Pp 4397-4410 (2015)
Flash floods pose significant hazards in urbanised zones and have important implications financially and for humans alike in both the present and future due to the likelihood that global climate change will exacerbate their consequences. It is thus o
Externí odkaz:
https://doaj.org/article/4238e67737044547917cb687612b51b9
Autor:
T. Darras, F. Raynaud, V. Borrell Estupina, L. Kong-A-Siou, S. Van-Exter, B. Vayssade, A. Johannet, S. Pistre
Publikováno v:
Proceedings of the International Association of Hydrological Sciences, Vol 369, Pp 43-48 (2015)
Flash floods forecasting in the Mediterranean area is a major economic and societal issue. Specifically, considering karst basins, heterogeneous structure and nonlinear behaviour make the flash flood forecasting very difficult. In this context, th
Externí odkaz:
https://doaj.org/article/fc74904d55d3441aa54bf2de72cc08ac
Autor:
Thomas O. Crawford, John W. Day, Darryl C. De Vivo, Jena M. Krueger, Eugenio Mercuri, Andres Nascimento, Amy Pasternak, Elena Stacy Mazzone, Tina Duong, Guochen Song, Jing L. Marantz, Scott Baver, Dongzi Yu, Lan Liu, Basil T. Darras
Publikováno v:
Frontiers in Neurology, Vol 15 (2024)
Background and purposeAt 12 months in the phase 2 TOPAZ study, treatment with apitegromab was associated with both an improved motor function in patients with Type 2 or 3 spinal muscular atrophy (SMA) and with a favorable safety profile. This manuscr
Externí odkaz:
https://doaj.org/article/463093cc41344076b301b431a80c1691
Autor:
Robert J. Graham, Basil T. Darras, Tmirah Haselkorn, Dan Fisher, Casie A. Genetti, Weston Miller, Alan H. Beggs
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
Abstract Background X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy with multisystem involvement, often requiring invasive ventilator support, gastrostomy tube feeding, and wheelchair use. Understanding healthcare
Externí odkaz:
https://doaj.org/article/82db351dd5ee4433a8ec27539c7b295f
Autor:
Claude Cances, Dmitry Vlodavets, Giacomo Pietro Comi, Riccardo Masson, Maria Mazurkiewicz-Bełdzińska, Kayoko Saito, Edmar Zanoteli, Angela Dodman, Muna El-Khairi, Ksenija Gorni, Isaac Gravestock, Janine Hoffart, Renata S. Scalco, Basil T. Darras, the ANCHOVY Working Group
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
Abstract Background ANCHOVY was a global, multicenter, chart-review study that aimed to describe the natural history of Type 1 spinal muscular atrophy (SMA) from a broad geographical area and provide further contextualization of results from the FIRE
Externí odkaz:
https://doaj.org/article/7dcf9fd5800e4a74826a8e62d503f985
Autor:
Eulàlia Rovira-Moreno, Anna Abulí, Patricia Muñoz-Cabello, Marta Codina-Solà, Eva Baillès, Mencía de Lemus, Basil T. Darras, Eduardo F. Tizzano
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100825- (2023)
Spinal muscular atrophy (SMA) is a prevalent severe genetic condition that follows an autosomal recessive inheritance pattern. Over the last decade, advances in innovative therapies have improved the course of the disease for many patients. There is
Externí odkaz:
https://doaj.org/article/f8742aa22bde4db0a7bae2b364dd1ee9
Autor:
Maria Carmela Pera, Giorgia Coratti, Francesca Bovis, Marika Pane, Amy Pasternak, Jacqueline Montes, Valeria A. Sansone, Sally Dunaway Young, Tina Duong, Sonia Messina, Irene Mizzoni, Adele D’Amico, Matthew Civitello, Allan M. Glanzman, Claudio Bruno, Francesca Salmin, Simone Morando, Roberto De Sanctis, Maria Sframeli, Laura Antonaci, Anna Lia Frongia, Annemarie Rohwer, Mariacristina Scoto, Darryl C. De Vivo, Basil T. Darras, John Day, William Martens, Katia A. Patanella, Enrico Bertini, Francesco Muntoni, Richard Finkel, Eugenio Mercuri, the iSMAC group
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 8, Pp 1622-1634 (2021)
Abstract Objective We report longitudinal data from 144 type III SMA pediatric and adult patients treated with nusinersen as part of an international effort. Methods Patients were assessed using Hammersmith Functional Motor Scale Expanded (HFMSE), Re
Externí odkaz:
https://doaj.org/article/934d5becf2b645da80440f5df9f6f4de
Autor:
Melanie L. Leitner, Kush Kapur, Basil T. Darras, Michele Yang, Brenda Wong, Laura Dalle Pazze, Julaine Florence, Martin Buck, Laura Freedman, Jose Bohorquez, Seward Rutkove, Craig Zaidman
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 1, Pp 4-14 (2020)
Abstract Objective To evaluate the sensitivity of electrical impedance myography (EIM) to disease progression in both ambulatory and non‐ambulatory boys with DMD. Methods and Participants A non‐blinded, longitudinal cohort study of 29 ambulatory
Externí odkaz:
https://doaj.org/article/0f3e4106a6a4413997711be74d88d6bd
Autor:
Richard S. Finkel, Basil T. Darras, Jerry R. Mendell, John W. Day, Nancy L. Kuntz, Anne M. Connolly, Craig M. Zaidman, Thomas O. Crawford, Russell J. Butterfield, Perry B. Shieh, Gihan Tennekoon, John F. Brandsema, Susan T. Iannaccone, John Shoffner, Sarah Kavanagh, Thomas A. Macek, Sitra Tauscher-Wisniewski
Publikováno v:
Journal of Neuromuscular Diseases. 10:389-404
Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder arising from biallelic non-functional survival motor neuron 1 (SMN1) genes with variable copies of partially functional SMN2 gene. Intrathecal onasemnogene abeparvovec administrati
Autor:
Basil T. Darras, Thomas O. Crawford, Richard S. Finkel, Eugenio Mercuri, Darryl C. De Vivo, Maryam Oskoui, Eduardo F. Tizzano, Monique M. Ryan, Francesco Muntoni, Guolin Zhao, John Staropoli, Alexander McCampbell, Marco Petrillo, Christopher Stebbins, Stephanie Fradette, Wildon Farwell, Charlotte J. Sumner
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 6, Iss 5, Pp 932-944 (2019)
Abstract Objective To evaluate plasma phosphorylated neurofilament heavy chain (pNF‐H) as a biomarker in spinal muscular atrophy (SMA). Methods Levels of pNF‐H were measured using the ProteinSimple® platform in plasma samples from infants with S
Externí odkaz:
https://doaj.org/article/3ee8e34dbd374d5497e7d0c04fdbd40a