A novel bleeding disorder associated with RYR1 mutations

被引：0

作者：

Lopez, R. ^{[1
]}

Byrne, S. ^{[2
]}

Vukcevic, M. ^{[1
]}

Sekulic-Jablanovic, M. ^{[1
]}

Xu, L. ^{[1
]}

Brink, M. ^{[1
]}

Alamelu, J. ^{[3
]}

Voermans, N. ^{[4
]}

Snoeck, M. ^{[5
]}

Clement, E. ^{[6
]}

Muntoni, F. ^{[7
]}

Zhou, H. ^{[7
]}

Radunovic, A. ^{[8
]}

Mohammed, S. ^{[6
]}

Wraige, E. ^{[3
]}

Zorzato, E. ^{[9
]}

Treves, S. ^{[1
]}

Jungbluth, H. ^{[10
]}

机构：

[1] Univ Basel Hosp, Basel, Switzerland

[2] St Thomas Hosp, Evelina Childrens Hosp, London, England

[3] Evelina Childrens Hosp, London, England

[4] Radboud Univ Nijmegen, Med Ctr, Nijmegen, Netherlands

[5] Canisius Wilhelmina Hosp, Nijmegen, Netherlands

[6] Guys Hosp, London, England

[7] UCL, London, England

[8] Royal London Hosp, London, England

[9] Univ Ferrara, Ferrara, Italy

[10] Kings Coll London, London, England

来源：

NEUROMUSCULAR DISORDERS | 2016年 / 26卷

关键词：

D O I：

10.1016/j.nmd.2016.06.019

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

S.O.3

引用

页码：S89 / S90

页数：2

共 50 条

[1] Pathological RyR1 Mutations to Identify RyR1 Functional Domains
Cacheux, Marine
Faure, Julien
Brocard, Julie
Monnier, Nicole
Lunardi, Joel
Marty, Isabelle
BIOPHYSICAL JOURNAL, 2011, 100 (03) : 592 - 593
[2] Novel causative RYR1 mutations in malignant hyperthermia
Levano, Soledad
Vukcevic, Mirko
Singer, Martine
Treves, Susan
Urwyler, Albert
Girard, Thierry
SWISS MEDICAL WEEKLY, 2007, 137 : 15S - 15S
[3] An RYR1 mutation associated with malignant hyperthermia is also associated with bleeding abnormalities
Lopez, Ruben J.
Byrne, Susan
Vukcevic, Mirko
Sekulic-Jablanovic, Marijana
Xu, Lifen
Brink, Marijke
Alamelu, Jay
Voermans, Nicol
Snoeck, Marc
Clement, Emma
Muntoni, Francesco
Zhou, Haiyan
Radunovic, Aleksandar
Mohammed, Shehla
Wraige, Elizabeth
Zorzato, Francesco
Treves, Susan
Jungbluth, Heinz
SCIENCE SIGNALING, 2016, 9 (435)
[4] How mutations in RYR1 that cause malignant hyperthermia increase RYR1 sensitivity to activators
Baker, Matthew L.
Dirksen, Robert T.
Hamilton, Susan L.
CELL CALCIUM, 2021, 97
[5] Unraveling RYR1 mutations and muscle biopsies
Morrison, Leslie
NEUROLOGY, 2008, 70 (02) : 99 - 100
[6] Severe congenital myopathy with central nuclei and novel RYR1 gene mutations
Chrestian, N.
Dowling, J.
Amburgey, K.
Moraes, T.
Cohn, R.
Hawkins, C.
Halliday, W.
McAdam, L.
Biggar, D.
Vajsar, J.
NEUROMUSCULAR DISORDERS, 2014, 24 (9-10) : 808 - 809
[7] Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations
Jungbluth, H
Davis, MR
Müller, C
Counsell, S
Allsop, J
Chattopadhyay, A
Messina, S
Mercuri, E
Laing, NG
Sewry, CA
Bydder, G
Muntoni, F
NEUROMUSCULAR DISORDERS, 2004, 14 (12) : 785 - 790
[8] Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleeding
Brackmann, Florian
Tuerk, Matthias
Gratzki, Nils
Rompel, Oliver
Jungbluth, Heinz
Schroeder, Rolf
Trollmann, Regina
NEUROMUSCULAR DISORDERS, 2018, 28 (01) : 54 - 58
[9] RYR1 mutations in adults with acute rhabdomyolysis episodes
Bompaire, F.
Roux-Buisson, N.
Monnier, N.
Feillet, F.
Romero, N. B.
Laforet, P.
Behin, A.
NEUROMUSCULAR DISORDERS, 2014, 24 (9-10) : 809 - 809
[10] Characterization of recessive RYR1 mutations in core myopathies
Zhou, Haiyan
Yamaguchi, Naohiro
Xu, Le
Wang, Ying
Sewry, Caroline
Jungbluth, Heinz
Zorzato, Francesco
Bertini, Enrico
Muntoni, Francesco
Meissner, Gerhard
Treves, Susan
HUMAN MOLECULAR GENETICS, 2006, 15 (18) : 2791 - 2803

← 1 2 3 4 5 →