Zobrazeno 1 - 10
of 83
pro vyhledávání: '"Ksenija, Gorni"'
Autor:
Natan Bar-Chama, Bakri Elsheikh, Channa Hewamadduma, Carol Jean Guittari, Ksenija Gorni, Lutz Mueller
Publikováno v:
Neurology and Therapy, Vol 13, Iss 4, Pp 933-947 (2024)
Abstract Spinal muscular atrophy (SMA) is a neuromuscular disease caused by deletions or mutations in the survival of motor neuron 1 (SMN1) gene resulting in reduced levels of SMN protein. SMN protein is produced by cells throughout the body, and evi
Externí odkaz:
https://doaj.org/article/f5bd081ed8f9402d83371c6ecdf5ed7a
Autor:
Claudia A. Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Anna Kostera-Pruszczyk, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Francis Warren, Renata S. Scalco, Kathryn R. Wagner, Francesco Muntoni, the JEWELFISH Study Group
Publikováno v:
Neurology and Therapy, Vol 12, Iss 5, Pp 1799-1801 (2023)
Externí odkaz:
https://doaj.org/article/258bc786e54b4365b79dbe9dd14b5d86
Autor:
Claudia A. Chiriboga, Claudio Bruno, Tina Duong, Dirk Fischer, Eugenio Mercuri, Janbernd Kirschner, Anna Kostera-Pruszczyk, Birgit Jaber, Ksenija Gorni, Heidemarie Kletzl, Imogen Carruthers, Carmen Martin, Francis Warren, Renata S. Scalco, Kathryn R. Wagner, Francesco Muntoni, the JEWELFISH Study Group
Publikováno v:
Neurology and Therapy, Vol 12, Iss 2, Pp 543-557 (2023)
Abstract Introduction Risdiplam is a survival of motor neuron 2 (SMN2) splicing modifier for the treatment of patients with spinal muscular atrophy (SMA). The JEWELFISH study (NCT03032172) was designed to assess the safety, tolerability, pharmacokine
Externí odkaz:
https://doaj.org/article/cf9aa173befd4087b4e4bc7cce3e9e84
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:
Mélanie Annoussamy, Andreea M. Seferian, Aurore Daron, Yann Péréon, Claude Cances, Carole Vuillerot, Liesbeth De Waele, Vincent Laugel, Ulrike Schara, Teresa Gidaro, Charlotte Lilien, Jean‐Yves Hogrel, Pierre Carlier, Emmanuel Fournier, Linda Lowes, Ksenija Gorni, Myriam Ly‐Le Moal, Nicole Hellbach, Timothy Seabrook, Christian Czech, Ricardo Hermosilla, Laurent Servais, the NatHis‐SMA study group
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 8, Iss 2, Pp 359-373 (2021)
Abstract Objective To characterize the natural history of spinal muscular atrophy (SMA) over 24 months using innovative measures such as wearable devices, and to provide evidence for the sensitivity of these measures to determine their suitability as
Externí odkaz:
https://doaj.org/article/5662815653b845ccaffc6ca741781c22
Autor:
Dylan Trundell, Stephanie Le Scouiller, Ksenija Gorni, Timothy Seabrook, Carole Vuillerot, the SMA MFM Study Group
Publikováno v:
Neurology and Therapy, Vol 9, Iss 2, Pp 575-584 (2020)
Abstract Introduction To investigate the validity and reliability of the 32-item Motor Function Measure (MFM32) in individuals with neuromuscular disorders (NMD), including spinal muscular atrophy (SMA), aged 2–5 years, and in non-ambulant individu
Externí odkaz:
https://doaj.org/article/b5cbb37514f249639c8a2d0cbad8caa1
Autor:
Tina Duong, Hannah Staunton, Jessica Braid, Aurelie Barriere, Ben Trzaskoma, Ling Gao, Tom Willgoss, Rosangel Cruz, Nicole Gusset, Ksenija Gorni, Sharan Randhawa, Lida Yang, Carole Vuillerot
Publikováno v:
Frontiers in Neurology, Vol 12 (2022)
The 32-item Motor Function Measure (MFM32) is an assessment of motor function used to evaluate fine and gross motor ability in patients with neuromuscular disorders, including spinal muscular atrophy (SMA). Reliability and validity of the MFM32 have
Externí odkaz:
https://doaj.org/article/bfda0d067a5e46119881b84dee5d1662
Autor:
Maggie C. Walter, Pascal Laforêt, W. Ludo van der Pol, Elena Pegoraro, Shahram Attarian, Bart Bartels, Ksenija Gorni, Nathalie Goemans, Nicole Gusset, Victoria Hodgkinson, Tim Hagenacker, Janbernd Kirschner, Andrea Klein, Anna Kostera-Pruszczyk, Hanns Lochmüller, Chiara Marini-Bettolo, Eugenio Mercuri, Robert Muni-Lofra, Laetitia Ouillade, Rosaline Quinlivan, Constantinos Papadopoulos, Hélène Prigent, Emmanuelle Salort-Campana, Valeria A Sansone, Rivka Smit, Piera Smeriglio, Simone Thiele, Ben Tichler, Peter Van den Bergh, Juan F Vazquez-Costa, John Vissing
Publikováno v:
Neuromuscular Disorders. 33:511-522
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::358ba1ce701ca027f0bfab2def0d78b1
https://doi.org/10.1016/j.nmd.2023.03.011
https://doi.org/10.1016/j.nmd.2023.03.011
Publikováno v:
PLoS ONE, Vol 15, Iss 9, p e0238786 (2020)
The 32-item Motor Function Measure (MFM32) is an assessment of motor function, and its measurement properties were established in a broad neuromuscular disease population. This study sought to investigate the reliability, validity, and ability to det
Externí odkaz:
https://doaj.org/article/60fc7a595b904f0dae4ae75db3c67598
Autor:
Laurent Servais, Maryam Oskoui, John Day, Nicholas Deconinck, Elena Mazzone, Andrés Nascimento, Kyoko Saito, Carole Vuillerot, Giovanni Baranello, Odile Boespflug-Tanguy, Nathalie Goemans, Janbernd Kirschner, Anna Kostera-Pruszczyk, Jessica Braid, Gergely Papp, Ksenija Gorni, Carmen Martin, Renata Scalco, Wai Yin Yeung, Eugenio Mercuri
Publikováno v:
Wednesday, April 26.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8bfd5ad7b2da93cbab542167ff846ef7
https://doi.org/10.1212/wnl.0000000000203570
https://doi.org/10.1212/wnl.0000000000203570