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

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

涉及肌肉特异性蛋白激酶和巨型肌联蛋白的双基因遗传导致骨骼肌肌病

Ana Töpf, Dan Cox, Irina T Zaharieva, Valeria Di Leo, Jaakko Sarparanta, Per Harald Jonson, Ian M Sealy, Andrei Smolnikov, Richard J White, Anna Vihola, Marco Savarese, Munise Merteroglu, Neha Wali, Kristen M Laricchia, Cristina Venturini, Bas Vroling, Sarah L Stenton, Beryl B Cummings, Elizabeth Ha

HSPB8 frameshift mutant aggregates weaken chaperone-assisted selective autophagy in neuromyopathies

HSPB8移码突变体聚集体减弱神经肌肉病中分子伴侣辅助的选择性自噬

Barbara Tedesco,Leen Vendredy,Elias Adriaenssens,Marta Cozzi,Bob Asselbergh ,Valeria Crippa,Riccardo Cristofani,Paola Rusmini,Veronica Ferrari,Elena Casarotto,Marta Chierichetti,Francesco Mina,Paola Pramaggiore,Mariarita Galbiati,Margherita Piccolella,Jonathan Baets ,Femke Baeke,Riet De Rycke,Vincent Mouly,Tommaso Laurenzi,Ivano Eberini,Anna Vihola ,Bjarne Udd ,Lan Weiss,Virginia Kimonis,Vincent Timmerman,Angelo Poletti

CACNA1S Variant Associated With a Myalgic Myopathy Phenotype

与肌痛性肌病表型相关的 CACNA1S 变异

Vesa Periviita, Johanna Palmio, Manu Jokela, Paivi Hartikainen, Anna Vihola, Tuomas Rauramaa, Bjarne Udd

Extension of the DNAJB2a isoform in a dominant neuromyopathy family

DNAJB2a 亚型在显性神经肌病家族中的延伸

Jaakko Sarparanta, Per Harald Jonson, Jens Reimann, Anna Vihola, Helena Luque, Sini Penttilä, Mridul Johari, Marco Savarese, Peter Hackman, Cornelia Kornblum, Bjarne Udd

Comprehensive transcriptomic analysis shows disturbed calcium homeostasis and deregulation of T lymphocyte apoptosis in inclusion body myositis

综合转录组分析表明包涵体肌炎中钙稳态紊乱和 T 淋巴细胞凋亡失调

Mridul Johari, Anna Vihola, Johanna Palmio, Manu Jokela, Per Harald Jonson, Jaakko Sarparanta, Sanna Huovinen, Marco Savarese, Peter Hackman, Bjarne Udd

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

Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene

由 HNRNPA1 基因缺失引起的显性远端肌病 3 (MPD3)

Peter Hackman, Salla M Rusanen, Mridul Johari, Anna Vihola, Per Harald Jonson, Jaakko Sarparanta, Kati Donner, Päivi Lahermo, Sampo Koivunen, Helena Luque, Merja Soininen, Ibrahim Mahjneh, Mari Auranen, Meharji Arumilli, Marco Savarese, Bjarne Udd

Mutations in the J domain of DNAJB6 cause dominant distal myopathy

DNAJB6 J 结构域突变导致显性远端肌病

Johanna Palmio, Per Harald Jonson, Michio Inoue, Jaakko Sarparanta, Rocio Bengoechea, Marco Savarese, Anna Vihola, Manu Jokela, Masanori Nakagawa, Satoru Noguchi, Montse Olivé, Marion Masingue, Emilia Kerty, Peter Hackman, Conrad C Weihl, Ichizo Nishino, Bjarne Udd

Actininopathy: A new muscular dystrophy caused by ACTN2 dominant mutations

肌动蛋白病:一种由 ACTN2 显性突变引起的新型肌营养不良症

Marco Savarese, Johanna Palmio, Juan José Poza, Jan Weinberg, Montse Olive, Ana Maria Cobo, Anna Vihola, Per Harald Jonson, Jaakko Sarparanta, Federico García-Bragado, Jon Andoni Urtizberea, Peter Hackman, Bjarne Udd

A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy

一种新的 COL6A2 突变导致晚发性肢带型肌营养不良症

Manu Jokela, Sara Lehtinen, Johanna Palmio, Anna-Maija Saukkonen, Sanna Huovinen, Anna Vihola, Bjarne Udd