A Case of Pathological Complete Response and Resolution of Dermatomyositis Following Neoadjuvant Chemotherapy in HER2-Positive Early Breast Cancer

Autor: Marta Piras, Martina Panebianco, Matteo Garibaldi, Michela Roberto, Gioia Merlonghi, Patrizia Pellegrini, Paolo Marchetti

Publikováno v: Current Oncology, Vol 28, Iss 3, Pp 1957-1961 (2021)

Introduction. Dermatomyositis (DM) is an idiopathic inflammatory myopathy (IIM) mainly characterized by subacute muscle weakness and skin rash sometimes associated with malignancy. Case Presentation. A 61-year-old female was admitted to our hospital

Externí odkaz: https://doaj.org/article/d94e774ac4754c1c91b8e93a8930f3a0

Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores

Autor: Enrico Bertini, Elisabetta Bucci, Giovanni Antonini, Luca Leonardi, Marco Salvetti, Bas Uijterwijk, Antonella Stoppacciaro, Martijn Zierikzee, Salvatore Raffa, Fiammetta Vanoli, Tommaso Tartaglione, Laura Fionda, Elena Maria Pennisi, Gioia Merlonghi, Fabiana Fattori, Coen A.C. Ottenheijm, Matteo Garibaldi, Stefania Morino, Andrea Micaloni

Publikováno v: Garibaldi, M, Fattori, F, Pennisi, E M, Merlonghi, G, Fionda, L, Vanoli, F, Leonardi, L, Bucci, E, Morino, S, Micaloni, A, Tartaglione, T, Uijterwijk, B, Zierikzee, M, Ottenheijm, C, Bertini, E S, Stoppacciaro, A, Raffa, S, Salvetti, M & Antonini, G 2021, ' Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores ', Neuromuscular Disorders, vol. 31, no. 2, pp. 139-148 . https://doi.org/10.1016/j.nmd.2020.11.012
Neuromuscular Disorders, 31(2), 139-148. Elsevier Limited

ACTA1 gene encodes the skeletal muscle alpha-actin, the core of thin filaments of the sarcomere. ACTA1 mutations are responsible of several muscle disorders including nemaline, cores, actin aggregate myopathies and fiber-type disproportion. We report

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::21e22653de2aba26bdf9cdf178ab20f3
https://doi.org/10.1016/j.nmd.2020.11.012

Gender effect on cardiac involvement in myotonic dystrophy type 1

Autor: Giovanni Antonini, Luca Leonardi, Gioia Merlonghi, Marco Testa, Matteo Garibaldi, Antonio Lauletta, Laura Fionda, Girolamo Alfieri, Elisabetta Bucci, Stefania Morino, Laura Tufano, Marco Salvetti, Paolo Anibaldi, Fiammetta Vanoli

Publikováno v: European journal of neurologyREFERENCES. 28(4)

Background and purpose Cardiac involvement is observed in about 80% of subjects with myotonic dystrophy type 1 (DM1) and is mainly characterized by cardiac conduction and/or rhythm abnormalities (CCRAs), possibly leading to sudden cardiac death (SCD)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24b2fb5ce008615ad982459eadafd200
https://pubmed.ncbi.nlm.nih.gov/33283405

Immune-mediated necrotizing myopathy (IMNM): A myopathological challenge

Autor: Giovanni Antonini, Matteo Garibaldi, Gioia Merlonghi

Publikováno v: Autoimmunity Reviews. 21:102993

This review is focused on the myopathological spectrum of immune mediated necrotizing myopathies (IMNMs) and its differentiation with other, potentially mimicking, inflammatory and non-inflammatory myopathies. IMNMs are a subgroup of idiopathic infla

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8eec5698578b02950c5887878fc53633
https://doi.org/10.1016/j.autrev.2021.102993

EP.131Novel ACTA1 mutation causes late-onset nemaline myopathy with fuzzy-dark cores

Autor: Elena Maria Pennisi, Laura Fionda, Giovanni Antonini, Andrea Micaloni, Luca Leonardi, Elisabetta Bucci, Gioia Merlonghi, Stefania Morino, E. Bertini, Salvatore Raffa, Matteo Garibaldi, Fiammetta Vanoli, Fabiana Fattori

Publikováno v: Neuromuscular Disorders. 29:S205-S206

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::2ce15c2a74ab410945bfa990dc991110
https://doi.org/10.1016/j.nmd.2019.06.588