Zobrazeno 1 - 10
of 47
pro vyhledávání: '"D. Vlodavets"'
Autor:
P. G. Carlier, B. Marty, O. Scheidegger, P. Loureiro de Sousa, P.-Y. Baudin, E. Snezhko, D. Vlodavets
Publikováno v:
Нервно-мышечные болезни, Vol 7, Iss 1, Pp 11-29 (2017)
Externí odkaz:
https://doaj.org/article/72474ec96d6941e8b9e13a3778044fff
Autor:
R. Finkel, M. Farrar, D. Vlodavets, E. Zanoteli, M. Al-Muhaizea, L. Nelson, A. Prufer, L. Servais, Y. Wang, C. Fisher, M. Gerber, K. Gorni, H. Kletzl, L. Palfreeman, R. Scalco, E. Bertini
Publikováno v:
Neuromuscular Disorders. 32:S85-S86
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c6089104a05fbff4cee46237d57ae769
https://doi.org/10.1016/j.nmd.2022.07.183
https://doi.org/10.1016/j.nmd.2022.07.183
Autor:
Anastasiya V. Monakhova, Vladimir Sukhorukov, Anna G. Kupriyanova, T. I. Baranich, Elena Belousova, D. Vlodavets, N. N. Zavadenko, Dmitry O. Kazakov
Publikováno v:
L.O. Badalyan Neurological Journal. 1:159-168
Merosin-deficient muscular dystrophy is the most common form of congenital muscular dystrophies (СMD), characterized by genetic heterogeneity and a severe course in most cases. CMD pathogenesis is associated with a partial or complete absence of lam
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::07b9d072c800921df8348eb5dec075a2
https://doi.org/10.17816/2686-8997-2020-1-3-159-168
https://doi.org/10.17816/2686-8997-2020-1-3-159-168
Autor:
N. N. Zavadenko, D. Vlodavets
Publikováno v:
L.O. Badalyan Neurological Journal. 1:64-72
Hereditary neuromuscular diseases (HNMD) represent a large group of heterogenic morbid conditions, characterized by muscular weakness, muscular atrophies, disturbances of postural control and locomotor functions. Scientific research on HNMD, performe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::62d0875d1262f0fb29e4d662bfa418eb
https://doi.org/10.17816/2686-8997-2020-1-01-64-72
https://doi.org/10.17816/2686-8997-2020-1-01-64-72
Autor:
Maria Mazurkiewicz-Bełdzińska, Marianne Gerber, Heidemarie Kletzl, R. Masson, Andrea Klein, Edmar Zanoteli, Ksenija Gorni, Basil T. Darras, Kristy Rose, Giovanni Baranello, Laurent Servais, H. Xiong, D. Vlodavets, A. Dodman, M. El-Khairi, Renata S. Scalco
Publikováno v:
Abstracts of the 46th Annual Meeting of the Society for Neuropediatrics.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::89e5acac415f97f435c35a50acd74960
https://doi.org/10.1055/s-0041-1739636
https://doi.org/10.1055/s-0041-1739636
Autor:
L. Servais, G. Baranello, O. Boespflug-Tanguy, J. Day, N. Deconinck, A. Klein, R. Masson, M. Mazurkiewicz-Bełdzińska, E. Mercuri, K. Rose, D. Vlodavets, H. Xiong, E. Zanoteli, M. El-Khairi, M. Gerber, K. Gorni, H. Kletzl, L. Palfreeman, A. Dodman, E. Gaki, B. Darras
Publikováno v:
Neuromuscular Disorders. 32:S88
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7188635b0cc7eb8e426680fcae901848
https://doi.org/10.1016/j.nmd.2022.07.194
https://doi.org/10.1016/j.nmd.2022.07.194
Autor:
C. Chiriboga, L. Servais, G. Baranello, B. Darras, J. Day, N. Deconinck, M. Farrar, R. Finkel, E. Bertini, J. Kirschner, R. Masson, M. Mazurkiewicz-Bełdzińska, D. Vlodavets, S. Bader-Weder, K. Gorni, B. Jaber, T. McIver, G. Papp, R. Scalco, E. Mercuri
Publikováno v:
Neuromuscular Disorders. 32:S89
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0cc9c37ed6aa8f64bffb4c7c4fa681d1
https://doi.org/10.1016/j.nmd.2022.07.198
https://doi.org/10.1016/j.nmd.2022.07.198
Autor:
Heidemarie Kletzl, D. Vlodavets, Marianne Gerber, Sabine Fuerst-Recktenwald, Maria Mazurkiewicz-Bełdzińska, Basil T. Darras, M. El-Khairi, Giovanni Baranello, Ksenija Gorni, Renata S. Scalco, Riccardo Masson, H. Xiong, Kristy Rose, Edmar Zanoteli, Laurent Servais
Publikováno v:
Web of Science
Objective: To determine the efficacy and safety of risdiplam, a centrally and peripherally distributed oral SMN2 pre-mRNA splicing modifier, in infants with Type 1 spinal muscular atrophy (SMA) treated for 12 months during the confirmatory Part 2 of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ac31266581f9dd75f3911be295696a45
https://doi.org/10.1183/13993003.congress-2020.1172
https://doi.org/10.1183/13993003.congress-2020.1172
Autor:
Giacomo Brisca, John Vissing, Nicol C. Voermans, Nahla Alshaikh, Angela Berardinelli, Adele D'Amico, Jahannaz Dastgir, Angel Sanchez, Carsten G. Bönnemann, Elio Maccagnano, Jordi Díaz-Manera, Lorenzo Maggi, Robert Carlier, Enzo Ricci, Giorgio Tasca, Susana Quijano-Roy, Gianmichele Magnano, Volker Straub, Mauro Monforte, Bjarne Udd, Elena Pegoraro, Eugenio Mercuri, Jana Haberlová, Francesco Muntoni, Nicoline Løkken, Baziel G.M. van Engelen, Francina Munell, Claudio Semplicini, Anna Pichiecchio, Fabiana Fattori, Maggie C. Walter, Claudio Bruno, D. Vlodavets, Chiara Marini-Bettolo, Enrico Bertini
Publikováno v:
Journal of Neurology, Neurosurgery, and Psychiatry, 89, 72-77
Journal of Neurology, Neurosurgery, and Psychiatry, 89, 1, pp. 72-77
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Journal of Neurology, Neurosurgery, and Psychiatry, 89, 1, pp. 72-77
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
ObjectivesTo characterise the pattern and spectrum of involvement on muscle MRI in a large cohort of patients with sarcoglycanopathies, which are limb-girdle muscular dystrophies (LGMD2C–2F) caused by mutations in one of the four genes coding for m
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd995631294b815f29e9fc91e9008e3a
https://doi.org/10.1136/jnnp-2017-316736
https://doi.org/10.1136/jnnp-2017-316736
Autor:
S. Jevtic, D. Carr, A. Dobrzycka-Ambrozewicz, K. Kotulzca-Jozwiak, O. Lvova, T. Pervunina, Y. Petryaikina, I. Shishimorov, D. Vlodavets, S. Nally, H. Ramos, B. Borowsky
Publikováno v:
Neuromuscular Disorders. 31:S135
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::df535023c36d5f3b0d7971a1723e0ace
https://doi.org/10.1016/j.nmd.2021.07.306
https://doi.org/10.1016/j.nmd.2021.07.306