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

Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions

X连锁小肌蛋白(SMPX)基因的错义突变会导致远端肌病伴蛋白包涵体。

Mridul Johari ,Jaakko Sarparanta ,Anna Vihola ,Per Harald Jonson ,Marco Savarese ,Manu Jokela ,Annalaura Torella ,Giulio Piluso ,Edith Said ,Norbert Vella ,Marija Cauchi ,Armelle Magot ,Francesca Magri ,Eleonora Mauri ,Cornelia Kornblum ,Jens Reimann ,Tanya Stojkovic ,Norma B Romero ,Helena Luque ,Sanna Huovinen ,Päivi Lahermo ,Kati Donner ,Giacomo Pietro Comi ,Vincenzo Nigro ,Peter Hackman ,Bjarne Udd

Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes

进行性肌阵挛性癫痫-残留未解决病例具有明显的遗传异质性,包括多萜醇依赖性蛋白糖基化途径基因

Carolina Courage, Karen L Oliver, Eon Joo Park, Jillian M Cameron, Kariona A Grabińska, Mikko Muona, Laura Canafoglia, Antonio Gambardella, Edith Said, Zaid Afawi, Betul Baykan, Christian Brandt, Carlo di Bonaventura, Hui Bein Chew, Chiara Criscuolo, Leanne M Dibbens, Barbara Castellotti, Patrizia R