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1 . Academic Journal
Differential Isoform Expression and Selective Muscle Involvement in Muscular Dystrophies
저자
by
Huovinen, Sanna
;
Penttilä, Sini
;
Somervuo, Panu
;
Keto, Joni
;
Auvinen, Petri
, et al.
소스
In
The American Journal of Pathology
October 2015 185(10):2833-2842
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7 . Academic Journal
Extension of the DNAJB2a isoform in a dominant neuromyopathy family.
저자
by
Sarparanta, Jaakko
;
Jonson, Per Harald
;
Reimann, Jens
;
Vihola, Anna
;
Luque, Helena
, et al.
소스
Human Molecular Genetics; Nov2023, Vol. 32 Issue 21, p3029-3039, 11p
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7 . Academic Journal
Late-onset spinal motor neuronopathy – A common form of dominant SMA
저자
by
Penttilä, Sini
;
Jokela, Manu
;
Huovinen, Sanna
;
Saukkonen, Anna Maija
;
Toivanen, Jari
, et al.
소스
In
Neuromuscular Disorders
March 2014 24(3):259-268
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7 . Academic Journal
New phenotype and pathology features in MYH7-related distal myopathy
저자
by
Tasca, Giorgio
;
Ricci, Enzo
;
Penttilä, Sini
;
Monforte, Mauro
;
Giglio, Vincenzo
, et al.
소스
In
Neuromuscular Disorders
July 2012 22(7):640-647
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7 . Academic Journal
Distinct distal myopathy phenotype caused by VCP gene mutation in a Finnish family
저자
by
Palmio, Johanna
;
Sandell, Satu
;
Suominen, Tiina
;
Penttilä, Sini
;
Raheem, Olayinka
, et al.
소스
In
Neuromuscular Disorders
August 2011 21(8):551-555
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7 . Academic Journal
Camptocormia as presenting sign in myofibrillar myopathy
저자
by
Renard, Dimitri
;
Castelnovo, Giovanni
;
Fernandez, Carla
;
De Paula, Andre Maues
;
Penttilä, Sini
, et al.
소스
In
Neuromuscular Disorders
November 2012 22(11):987-989
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7 . Academic Journal
Gluteus maximus hypertrophy: A diagnostic clue in four and a half LIM domain 1-mutated reducing body myopathy
저자
by
Jokela, Manu
;
Huovinen, Sanna
;
Palmio, Johanna
;
Saukkonen, Anna-Maija
;
Penttilä, Sini
, et al.
소스
In
Neuromuscular Disorders
October 2017 27(10):962-963
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7 .
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations
저자
by
Balcin, Hasan
;
Palmio, Johanna
;
Penttilä, Sini
;
Nennesmo, Inger
;
Lindfors, Mikaela
, et al.
소스
In
Neuromuscular Disorders
July 2017 27(7):627-630
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7 . Academic Journal
Novel mutation in TNPO3 causes congenital limb-girdle myopathy with slow progression
저자
by
Vihola, Anna
;
Palmio, Johanna
;
Danielsson, Olof
;
Penttilä, Sini
;
Louiselle, Daniel
, et al.
소스
Neurology: Genetics
. Jun 01, 2019 5(3)
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7 . Periodical
Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies
저자
by
Savarese, Marco
;
Johari, Mridul
;
Johnson, Katherine
;
Arumilli, Meharji
;
Torella, Annalaura
, et al.
소스
Journal of Neuromuscular Diseases; March 2020, Vol. 7 Issue: 2 p153-166, 14p
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