An up-to-date myopathologic characterisation of facioscapulohumeral muscular dystrophy type 1 muscle biopsies shows sarcolemmal complement membrane attack complex deposits and increased skeletal muscle regeneration

Autor: Hubregtse, Lisanne, Bouman, Karlijn, Lama, Chéryane, Lassche, Saskia, de Graaf, Nicolas, Taglietti, Valentina, Küsters, Benno, Periou, Baptiste, Relaix, Frédéric, van Engelen, Baziel, Authier, François-Jerôme, Voermans, Nicol C., Malfatti, Edoardo

Publikováno v: In Neuromuscular Disorders March 2024 36:6-15

Changes in amyloidosis phenotype over 11 years in a cardiac amyloidosis referral centre cohort in France

Autor: Damy, Thibaud ^*, Zaroui, Amira, de Tournemire, Marie, Kharoubi, Mounira, Gounot, Romain, Galat, Arnault, Guendouz, Soulef, Funalot, Benoit, Itti, Emmanuel, Roulin, Louise, Audard, Vincent, Fanen, Pascale, Leroy, Vincent, Poulot, Elsa, Belhadj, Karim, Mallet, Sophie, Deep Singh Chadah, Gagan, Planté-Bordeneuve, Violaine, Gendre, Thierry, Chevalier, Xavier, Guignard, Sandra, Bequignon, Emilie, Bartier, Sophie, Folliguet, Thierry, Lemonier, François, Audureau, Etienne, Tixier, Denis, Canoui-Poitrine, Florence, Lefaucheur, Jean-Pascal, Souvannanorath, Sarah, Authier, Francois-Jerome, Maupou, Steven, Hittinger, Luc, Molinier-Frenkel, Valérie, David, Jean-Philippe, Broussier, Amaury, Oghina, Silvia, Teiger, Emmanuel

Publikováno v: In Archives of Cardiovascular Diseases July 2023

Risdiplam: therapeutic effects and tolerability in a small cohort of 6 adult type 2 and type 3 SMA patients.

Autor: Severa, Gianmarco, Alfaro, Maria del Carmen, Alimi Ichola, Christophe, Shoaito, Hussein, Souvannanorath, Sarah, Authier, François-Jerôme, Malfatti, Edoardo

Publikováno v: Orphanet Journal of Rare Diseases; 11/20/2024, Vol. 19 Issue 1, p1-7, 7p

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Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant

Autor: Cardone, Nastasia, Moula, Melissa, Baelde, Rianne J., Biquand, Ariane, Villanova, Marcello, Metay, Corinne, Fiorillo, Chiara, Baratto, Serena, Merlini, Luciano, Sabatelli, Patrizia, Romero, Norma B., Relaix, Frederic, Authier, François J. rôme, Taglietti, Valentina, Savarese, Marco, de Winter, Josine, Ottenheijm, Coen, Richard, Isabelle, Malfatti, Edoardo

Publikováno v: Cardone, N, Moula, M, Baelde, R J, Biquand, A, Villanova, M, Metay, C, Fiorillo, C, Baratto, S, Merlini, L, Sabatelli, P, Romero, N B, Relaix, F, Authier, F J R, Taglietti, V, Savarese, M, de Winter, J, Ottenheijm, C, Richard, I & Malfatti, E 2023, ' Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant ', Acta neuropathologica communications, vol. 11, no. 1, 48 . https://doi.org/10.1186/s40478-023-01539-4
Acta neuropathologica communications, 11(1):48. BioMed Central

Congenital titinopathies are an emerging group of a potentially severe form of congenital myopathies caused by biallelic mutations in titin, encoding the largest existing human protein involved in the formation and stability of sarcomeres. In this st

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bb29f2f829e26d763c04e33f0694740
https://research.vumc.nl/en/publications/7c543fc4-4d38-4638-a06b-00e05b0009f8