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1 . Academic Journal
NEB mutations disrupt the super-relaxed state of myosin and remodel the muscle metabolic proteome in nemaline myopathy
저자
by
Natasha Ranu
;
Jenni Laitila
;
Hannah F. Dugdale
;
Jennifer Mariano
;
Justin S. Kolb
, et al.
소스
Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-14 (2022)
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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)
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7 . Academic Journal
Distinct Muscle Biopsy Findings in Genetically Defined Adult-Onset Motor Neuron Disorders.
저자
by
Manu Jokela
;
Sanna Huovinen
;
Olayinka Raheem
;
Mikaela Lindfors
;
Johanna Palmio
, et al.
소스
PLoS ONE, Vol 11, Iss 3, p e0151376 (2016)
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7 . 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 .
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 .
Homozygous Nonsense Mutation p.Q274X in TRIM63 (MuRF1) in a Patient with Mild Skeletal Myopathy and Cardiac Hypertrophy
저자
by
M. Jokela
;
Bjarne Udd
;
Sanna Huovinen
;
Peter Baumann
;
Sini Penttilä
.
소스
Journal of Neuromuscular Diseases
. 6:143-146
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7 .
Missense mutations in small muscle protein X-linked (SMPX) cause distal myopathy with protein inclusions
저자
by
Päivi Lahermo
;
Marco Savarese
;
Jaakko Sarparanta
;
Anna Vihola
;
Kati Donner
, et al.
소스
Acta Neuropathologica
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7 .
A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy
저자
by
Sara Lehtinen
;
Anna Vihola
;
Sanna Huovinen
;
Bjarne Udd
;
A.M. Saukkonen
, et al.
소스
Journal of Neurology
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7 .
EP.119A novel mutation in VAPB causing spinal muscular atrophy, Finkel type in Finland
저자
by
M. Jokela
;
Sini Penttilä
;
Satu Sandell
;
B. Udd
;
Sanna Huovinen
, et al.
소스
Neuromuscular Disorders
. 29:S202
Full Text (Clinical Key)
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7 .
The complexity of titin splicing pattern in human adult skeletal muscles
저자
by
Peter Hackman
;
Petri Auvinen
;
Per Harald Jonson
;
Marco Savarese
;
Bjarne Udd
, et al.
소스
Skeletal Muscle
Skeletal Muscle, Vol 8, Iss 1, Pp 1-9 (2018)
Open Access (BioMed Central)
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