日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency.

一种与快速肌球蛋白重链缺乏相关的新型先天性多核肌联蛋白病

Perrin Aurélien, Metay Corinne, Villanova Marcello, Carlier Robert-Yves, Pegoraro Elena, Juntas Morales Raul, Stojkovic Tanya, Richard Isabelle, Richard Pascale, Romero Norma B, Granzier Henk, Koenig Michel, Malfatti Edoardo, Cossée Mireille

Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient

HNRNPDL LGMD D3 型肌营养不良症的呼吸肌受累:首例意大利患者的详细临床描述

Malfatti, Edoardo; Cassandrini, Denise; Rubegni, Anna; Sartorelli, Filippo M; Villanova, Marcello

Prevalence of congenital muscular dystrophy in Italy: a population study

意大利先天性肌营养不良症患病率:一项人群研究

Graziano, Alessandra; Bianco, Flaviana; D'Amico, Adele; Moroni, Isabella; Messina, Sonia; Bruno, Claudio; Pegoraro, Elena; Mora, Marina; Astrea, Guja; Magri, Francesca; Comi, Giacomo P; Berardinelli, Angela; Moggio, Maurizio; Morandi, Lucia; Pini, Antonella; Petillo, Roberta; Tasca, Giorgio; Monforte, Mauro; Minetti, Carlo; Mongini, Tiziana; Ricci, Enzo; Gorni, Ksenija; Battini, Roberta; Villanova, Marcello; Politano, Luisa; Gualandi, Francesca; Ferlini, Alessandra; Muntoni, Francesco; Santorelli, Filippo Maria; Bertini, Enrico; Pane, Marika; Mercuri, Eugenio