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

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

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

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

解读肌肉疾病患者的肌联蛋白基因变异

Marco Savarese, Lorenzo Maggi, Anna Vihola, Per Harald Jonson, Giorgio Tasca, Lucia Ruggiero, Luca Bello, Francesca Magri, Teresa Giugliano, Annalaura Torella, Anni Evilä, Giuseppina Di Fruscio, Olivier Vanakker, Sara Gibertini, Liliana Vercelli, Alessandra Ruggieri, Carlo Antozzi, Helena Luque, San

The dark side of cognitive illusions: when an illusory belief interferes with the acquisition of evidence-based knowledge

认知错觉的阴暗面:当一种错觉信念干扰了基于证据的知识的获取时

Yarritu, Ion; Matute, Helena; Luque, David

Welander distal myopathy is caused by a mutation in the RNA-binding protein TIA1

Welander 远端肌病是由 RNA 结合蛋白 TIA1 突变引起的

Peter Hackman, Jaakko Sarparanta, Sara Lehtinen, Anna Vihola, Anni Evilä, Per Harald Jonson, Helena Luque, Juha Kere, Mark Screen, Patrick F Chinnery, Gabrielle Åhlberg, Lars Edström, Bjarne Udd

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

影响辅助伴侣 DNAJB6 细胞质功能的突变导致肢带型肌营养不良症

Jaakko Sarparanta, Per Harald Jonson, Christelle Golzio, Satu Sandell, Helena Luque, Mark Screen, Kristin McDonald, Jeffrey M Stajich, Ibrahim Mahjneh, Anna Vihola, Olayinka Raheem, Sini Penttilä, Sara Lehtinen, Sanna Huovinen, Johanna Palmio, Giorgio Tasca, Enzo Ricci, Peter Hackman, Michael Hauser