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1 .
P.157 Dominant HSPB6 mutation in a myopathy patient
저자
by
J. Sarparanta
;
P. Jonson
;
A. Vihola
;
H. Luque
;
A. Vainio
, et al.
소스
Neuromuscular Disorders
. 32:S110-S111
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7 .
P.154 A novel TIA1 frameshift variant in a dominant myopathy family
저자
by
J. Sarparanta
;
P. Jonson
;
A. Vihola
;
H. Luque
;
S. Brady
, et al.
소스
Neuromuscular Disorders
. 32:S110
Full Text (Clinical Key)
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7 .
P.151 - ABSTRACT WITHDRAWN Myopathy caused by mutations in the HNRNPA1 gene
저자
by
P. Hackman
;
S. Välipakka
;
P. Jonson
;
J. Sarparanta
;
A. Vihola
, et al.
소스
Neuromuscular Disorders
. 32:S109
Full Text (Clinical Key)
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7 .
DISTAL MYOPATHIES
저자
by
M. Johari
;
S. Rusanen
;
M. Savarese
;
P. Jonson
;
J. Sarparanta
, et al.
소스
Neuromuscular Disorders
. 31:S72
Full Text (Clinical Key)
Open Access (OpenAIRE)
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7 .
NEW GENES, NEW TECHNIQUES IN NEUROMUSCULAR DISORDERS
저자
by
Marco Savarese
;
Mridul Johari
;
H. Luque
;
B. Udd
;
A. Vihola
, et al.
소스
Neuromuscular Disorders
. 31:S161
Full Text (Clinical Key)
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7 .
DISTAL MYOPATHIES
저자
by
J. Sarparanta
;
P. Jonson
;
H. Luque
;
A. Vihola
;
B. Udd
.
소스
Neuromuscular Disorders
. 31:S71
Full Text (Clinical Key)
Open Access (OpenAIRE)
Web of Science
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7 .
HEREDITARY NEUROPATHIES & ALS
저자
by
Jaakko Sarparanta
;
H. Luque
;
Per Harald Jonson
;
Cornelia Kornblum
;
A. Vihola
, et al.
소스
Neuromuscular Disorders
. 30:S79-S80
Full Text (Clinical Key)
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7 .
O.20Mutations in ACTN2 gene cause a novel form of adult-onset distal myopathy
저자
by
Jon Andoni Urtizberea
;
Johanna Palmio
;
Per Harald Jonson
;
Montse Olivé
;
P. Hackman
, et al.
소스
Neuromuscular Disorders
. 29:S120-S121
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7 .
P.178A novel mutation in TNPO3 causes congenital limb girdle myopathy with slow progression
저자
by
Sini Penttilä
;
Conrad C. Weihl
;
Johanna Palmio
;
Olof Danielsson
;
S. Pittman
, et al.
소스
Neuromuscular Disorders
. 29:S100-S101
Full Text (Clinical Key)
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7 .
DIAGNOSTIC AND EXPERIMENTAL TREATMENT APPROACHES
저자
by
M. Jokela
;
Marco Savarese
;
L. Pihlajamaki
;
Anu Wartiovaara
;
P. Hackman
, et al.
소스
Neuromuscular Disorders
. 29:S124
Full Text (Clinical Key)
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