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

Characterization of novel CASQ1 variants in two families with unusual phenotypic features.

对两个具有不寻常表型特征的家族中的新型 CASQ1 变异体进行表征。

Laarne Milla, Jokela Manu, Zhao Fang, Huovinen Sanna, Kornblum Cornelia, Reimann Jens, Johari Mridul, Vihola Anna, Sarparanta Jaakko, Udd Bjarne, Hackman Peter, Lehtokari Vilma-Lotta, Pelin Katarina

Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern Europe

肌联蛋白363外显子中发现具有不同表型的新突变,包括东欧的创始突变

Sian, Veronica; Di Feo, Maria Francesca; Kurbatov, Sergei; Vihola, Anna; Luque, Helena; Konovalov, Fedor; Peric, Stojan; Duffy, Cathrina; Kornblum, Cornelia; Claeys, Kristl G; Hackman, Peter; Udd, Bjarne; Savarese, Marco

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

A Titin Truncating Variant Causing a Dominant Myopathy With Cardiac Involvement in a Large Family: The Exception That Proves the Rule

一种导致显性遗传性肌病并累及心脏的肌联蛋白截断变异,出现在一个大家族中:例外证明了规则

Claeys, Kristl G; Savarese, Marco; Jonson, Per Harald; Goosens, Veerle; Topf, Ana; Vihola, Anna; Straub, Volker; Udd, Bjarne

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

Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness

ACTN2最后一个外显子中的移码突变导致显性远端肌病伴面部无力

Savarese, Marco; Vihola, Anna; Jokela, Manu E; Huovinen, Sanna Pauliina; Gerevini, Simonetta; Torella, Annalaura; Johari, Mridul; Scarlato, Marina; Jonson, Per Harald; Onore, Maria Elena; Hackman, Peter; Gautel, Mathias; Nigro, Vincenzo; Previtali, Stefano Carlo; Udd, Bjarne