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

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

Adult-onset dominant muscular dystrophy in Greek families caused by Annexin A11

膜联蛋白 A11 导致的希腊家庭成年期显性肌营养不良症

Mridul Johari, George Papadimas, Constantinos Papadopoulos, Sophia Xirou, Aikaterini Kanavaki, Margarita Chrysanthou-Piterou, Salla Rusanen, 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 FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy

远端型肌营养不良症家族中出现新的 FLNC 移码和 OBSCN 变异

Daniela Rossi, Johanna Palmio, Anni Evilä, Lucia Galli, Virginia Barone, Tracy A Caldwell, Rachel A Policke, Esraa Aldkheil, Christopher E Berndsen, Nathan T Wright, Edoardo Malfatti, Guy Brochier, Enrico Pierantozzi, Albena Jordanova, Velina Guergueltcheva, Norma Beatriz Romero, Peter Hackman, Brun

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy

HSPB8 突变导致远端肌病和运动神经病的新表型

Roula Ghaoui, Johanna Palmio, Janice Brewer, Monkol Lek, Merrilee Needham, Anni Evilä, Peter Hackman, Per-Harald Jonson, Sini Penttilä, Anna Vihola, Sanna Huovinen, Mikaela Lindfors, Ryan L Davis, Leigh Waddell, Simran Kaur, Con Yiannikas, Kathryn North, Nigel Clarke, Daniel G MacArthur, Carolyn M S

SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles

SQSTM1剪接位点突变导致远端肌病伴边缘空泡

Robert C Bucelli ,Khalid Arhzaouy ,Alan Pestronk ,Sara K Pittman ,Luisa Rojas ,Carolyn M Sue ,Anni Evilä ,Peter Hackman ,Bjarne Udd ,Matthew B Harms ,Conrad C Weihl