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1 . Academic Journal
Revealing myopathy spectrum: integrating transcriptional and clinical features of human skeletal muscles with varying health conditions
저자
by
Huahua Zhong
;
Veronica Sian
;
Mridul Johari
;
Shintaro Katayama
;
Ali Oghabian
, et al.
소스
Communications Biology, Vol 7, Iss 1, Pp 1-9 (2024)
Open Access (DOAJ)
Web of Science
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7 . Academic Journal
The complexity of titin splicing pattern in human adult skeletal muscles
저자
by
Marco Savarese
;
Per Harald Jonson
;
Sanna Huovinen
;
Lars Paulin
;
Petri Auvinen
, et al.
소스
Skeletal Muscle, Vol 8, Iss 1, Pp 1-9 (2018)
Open Access (BioMed Central)
Open Access (DOAJ)
Web of Science
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7 . Academic Journal
Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results
저자
by
Jaakko Sarparanta
;
Per Harald Jonson
;
Sabita Kawan
;
Bjarne Udd
.
소스
International Journal of Molecular Sciences, Vol 21, Iss 4, p 1409 (2020)
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6 . Academic Journal
Gene expression profiling in tibial muscular dystrophy reveals unfolded protein response and altered autophagy.
저자
by
Mark Screen
;
Olayinka Raheem
;
Jeanette Holmlund-Hampf
;
Per Harald Jonson
;
Sanna Huovinen
, et al.
소스
PLoS ONE, Vol 9, Iss 3, p e90819 (2014)
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7 .
Extension of the DNAJB2a isoform in a dominant neuromyopathy family
저자
by
Jaakko Sarparanta
;
Per Harald Jonson
;
Jens Reimann
;
Anna Vihola
;
Helena Luque
, et al.
소스
Human Molecular Genetics
.
Open Access (OpenAIRE)
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7 .
Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in the HNRNPA1 Gene
저자
by
Salla M. Rusanen
;
Päivi Lahermo
;
Kati Donner
;
Anna Vihola
;
Marco Savarese
, et al.
소스
Neurology: Genetics
article-version (Version of Record) 3
Open Access (OpenAIRE)
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7 .
Mutations in the J domain of DNAJB6 cause dominant distal myopathy
저자
by
Satoru Noguchi
;
Marion Masingue
;
Emilia Kerty
;
Conrad C. Weihl
;
Anna Vihola
, et al.
소스
Neuromuscul Disord
Full Text (Clinical Key)
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7 .
Out-of-Frame Mutations in ACTN2 Last Exon Cause a Dominant Distal Myopathy With Facial Weakness
저자
by
Per Harald Jonson
;
Mridul Johari
;
Stefano C. Previtali
;
Peter Hackman
;
Maria Elena Onore
, et al.
소스
Neurology: Genetics
article-version (Version of Record) 3
Neurology Genetics
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7 .
Actininopathy: A new muscular dystrophy caused byACTN2dominant mutations
저자
by
Per Harald Jonson
;
Peter Hackman
;
Anna Vihola
;
Jaakko Sarparanta
;
Johanna Palmio
, et al.
소스
Annals of Neurology
. 85:899-906
Full Text (Wiley)
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7 .
234th ENMC International Workshop
저자
by
Conrad C. Weihl
;
Bjarne Udd
;
Michael Hanna
;
Anat Ben-Zvi
;
Thomas Blaettler
, et al.
소스
Neuromuscular Disorders
Neuromuscular Disorders, Elsevier, 2018, 28 (12), pp.1022-1030. ⟨10.1016/j.nmd.2018.09.004⟩
Neuromuscular disorders
Neuromuscular disorders, 28(12), 1022-1030. PERGAMON-ELSEVIER SCIENCE LTD
Neuromuscular Disorders, 2018, 28 (12), pp.1022-1030. ⟨10.1016/j.nmd.2018.09.004⟩
Full Text (ScienceDirect)
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