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1 . Academic Journal
Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution
저자
by
Deconinck, N
;
Richard, P
;
Allamand, V
;
Behin, A
;
Lafôret, P
, et al.
소스
Journal of Neurology, Neurosurgery & Psychiatry
. Dec 01, 2015 86(12):1337-1346
Full Text (BMJ Journals)
Web of Science
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7 . Academic Journal
Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores.
저자
by
Jungbluth, H
;
Müller, C R
;
Halliger-Keller, B
;
Brockington, M
;
Brown, S C
, et al.
소스
Neurology; 2002 Jul 23, Vol. 59 Issue 2, p284-287, 4p
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7 . Periodical
Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene
저자
by
Fischer, D
;
Herasse, M
;
Ferreiro, A
;
Barragán-Campos, H M.
;
Chiras, J
, et al.
소스
Neurology (Ovid); December 2006, Vol. 67 Issue: 12 p2217-2220, 4p
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7 . Periodical
Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene
저자
by
Jungbluth, H
;
Zhou, H
;
Hartley, L
;
Halliger-Keller, B
;
Messina, S
, et al.
소스
Neurology (Ovid); December 2005, Vol. 65 Issue: 12 p1930-1935, 6p
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7 .
Pathologies musculaires liées à la titine - Un domaine en émergence
저자
by
Ferreiro, A
;
Urtizberea, JA
;
Unité de Biologie Fonctionnelle et Adaptative (BFA (UMR_8251 / U1133))
;
Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)
;
Hôpital Marin d'Hendaye
.
소스
médecine/sciences
médecine/sciences, EDP Sciences, 2017, 33, pp.16-26. ⟨10.1051/medsci/201733s104⟩
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7 .
A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus
저자
by
Barateau, A
;
Vadrot, N
;
Vicart, P
;
Ferreiro, A
;
Mayer, M
, et al.
소스
PLoS ONE
PLoS ONE, 2017, 12 (1), ⟨10.1371/journal.pone.0169189⟩
PLoS ONE, Vol 12, Iss 1, p e0169189 (2017)
PLoS ONE, Public Library of Science, 2017, 12 (1), ⟨10.1371/journal.pone.0169189⟩
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7 .
Techno-economic benchmarking of NOBEL solutions for end-to-end broadband communications (invited paper)
저자
by
FERREIRO, A
;
DERKACZ, J
;
DORGEUILLE, F
;
HUELSERMANN, R
;
QUAGLIOTTI, M
, et al.
소스
Proceedings of NOC2007, the 12th European Conference on Networks and Optical Communications
Open Access (OpenAIRE)
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7 . Academic Journal
Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes
저자
by
Ducreux, S
;
Zorzato, F
;
Ferreiro, A
;
Jungbluth, H
;
Muntoni, F
, et al.
소스
BIOCHEMICAL JOURNAL
; APR 15 2006, 395 p259-p266, 8p.
Scopus
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7 . Academic Journal
A single homozygous point mutation in a 3 ' untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy
저자
by
Allamand, V
;
Richard, P
;
Lescure, A
;
Ledeuil, C
;
Desjardin, D
, et al.
소스
EMBO REPORTS
; APR 2006, 7 4, p450-p454, 5p.
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7 . Academic Journal
Selenoprotein N muscular dystrophy: Differential diagnosis for early-onset limited mobility of the spine
저자
by
Sponholz, S
;
von der Hagen, M
;
Hahn, G
;
Seifert, J
;
Stoltenburg-Didinger, G
, et al.
소스
JOURNAL OF CHILD NEUROLOGY
; APR 2006, 21 4, p316-p320, 5p.
Scopus
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