共 5 条
[1]
Mutations in RYR1 are a common cause of exertional myalgia and rhabdomyolysis
[J].
Dlamini, N.
;
Voermans, N. C.
;
Lillis, S.
;
Stewart, K.
;
Kamsteeg, E. -J.
;
Drost, G.
;
Quinlivan, R.
;
Snoeck, M.
;
Norwood, F.
;
Radunbvic, A.
;
Straub, V.
;
Roberts, M.
;
Vrancken, A. F. J. E.
;
van der Pol, W. L.
;
de Coo, R. I. F. M.
;
Manzur, A. Y.
;
Yau, S.
;
Abbs, S.
;
King, A.
;
Lammens, M.
;
Hopkins, P. M.
;
Mohammed, S.
;
Treves, S.
;
Muntoni, F.
;
Wraige, E.
;
Davis, M. R.
;
van Engelen, B.
;
Jungbluth, H.
.
NEUROMUSCULAR DISORDERS,
2013, 23 (07)
:540-548

Dlamini, N.
论文数: 0 引用数: 0
h-index: 0
机构:
Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Voermans, N. C.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Dept Neurol, Med Ctr, NL-6525 ED Nijmegen, Netherlands Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Lillis, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Guys Hosp, GSTS Pathol, London SE1 9RT, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Stewart, K.
论文数: 0 引用数: 0
h-index: 0
机构:
Guys Hosp, GSTS Pathol, London SE1 9RT, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Kamsteeg, E. -J.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Dept Human Genet, Med Ctr, NL-6525 ED Nijmegen, Netherlands Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Drost, G.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Dept Neurol, Med Ctr, NL-6525 ED Nijmegen, Netherlands Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Quinlivan, R.
论文数: 0 引用数: 0
h-index: 0
机构:
MRC Ctr Neuromuscular Dis, London, England
Natl Hosp Neurol & Neurosurg, London WC1N 3BG, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Snoeck, M.
论文数: 0 引用数: 0
h-index: 0
机构:
Canisius Wilhelmina Hosp, Dept Anesthesia, MH Invest Unit, Nijmegen, Netherlands Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Norwood, F.
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll Hosp London, Dept Neurol, London, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Radunbvic, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Royal London Hosp, Dept Neurol, London E1 1BB, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Straub, V.
论文数: 0 引用数: 0
h-index: 0
机构:
Newcastle Univ, Int Ctr Life, Inst Human Genet, Newcastle Upon Tyne, Tyne & Wear, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Roberts, M.
论文数: 0 引用数: 0
h-index: 0
机构:
Salford Royal NHS Fdn Trust, Dept Neurol, Manchester, Lancs, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Vrancken, A. F. J. E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr, Rudolf Magnus Inst Neurosci, Dept Neurol, Utrecht, Netherlands Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

van der Pol, W. L.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med Ctr, Rudolf Magnus Inst Neurosci, Dept Neurol, Utrecht, Netherlands Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

de Coo, R. I. F. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Erasmus MC, Dept Neurol, Rotterdam, Netherlands Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Manzur, A. Y.
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England
Great Ormond St Hosp Sick Children, London WC1N 3JH, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Yau, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Guys Hosp, GSTS Pathol, London SE1 9RT, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Abbs, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Guys Hosp, GSTS Pathol, London SE1 9RT, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

King, A.
论文数: 0 引用数: 0
h-index: 0
机构:
Kings Coll Hosp London, Dept Neuropathol, London, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Lammens, M.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Dept Pathol, Med Ctr, NL-6525 ED Nijmegen, Netherlands Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Hopkins, P. M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leeds, Leeds Inst Mol Med, Leeds Teaching Hosp NHS Trust, Leeds, W Yorkshire, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Mohammed, S.
论文数: 0 引用数: 0
h-index: 0
机构:
Guys Hosp, Dept Clin Genet, London SE1 9RT, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

论文数: 引用数:
h-index:
机构:

Muntoni, F.
论文数: 0 引用数: 0
h-index: 0
机构:
Inst Child Hlth, Dubowitz Neuromuscular Ctr, London, England
Great Ormond St Hosp Sick Children, London WC1N 3JH, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Wraige, E.
论文数: 0 引用数: 0
h-index: 0
机构:
Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Davis, M. R.
论文数: 0 引用数: 0
h-index: 0
机构:
Royal Perth Hosp, Dept Anat Pathol, Perth, WA, Australia Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

van Engelen, B.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen, Dept Neurol, Med Ctr, NL-6525 ED Nijmegen, Netherlands Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England

Jungbluth, H.
论文数: 0 引用数: 0
h-index: 0
机构:
Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England
Kings Coll London, Randall Div Cell & Mol Biophys, Muscle Signalling Sect, London WC2R 2LS, England
Kings Coll London, Clin Neurosci Div, IOP, London WC2R 2LS, England Guys & St Thomas Hosp NHS Fdn Trust, Evelinas Children Hosp, Neuromuscular Serv, Dept Paediat Neurol, London, England
[2]
RyR1 S-nitrosylation underlies environmental heat stroke and sudden death in Y522S RyR1 knockin mice
[J].
Durham, William J.
;
Aracena-Parks, Paula
;
Long, Cheng
;
Rossi, Ann E.
;
Goonasekera, Sanjeewa A.
;
Boncompagni, Simona
;
Galvan, Daniel L.
;
Gilman, Charles P.
;
Baker, Mariah R.
;
Shirokova, Natalia
;
Protasi, Feliciano
;
Dirksen, Robert
;
Hamilton, Susan L.
.
CELL,
2008, 133 (01)
:53-65

Durham, William J.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA

Aracena-Parks, Paula
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA

Long, Cheng
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA

Rossi, Ann E.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Rochester, Med Ctr, Dept Pharmacol & Physiol, Rochester, NY 14642 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA

Goonasekera, Sanjeewa A.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Rochester, Med Ctr, Dept Pharmacol & Physiol, Rochester, NY 14642 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA

Boncompagni, Simona
论文数: 0 引用数: 0
h-index: 0
机构:
Univ G Dannunzio, Ctr Sci Invecchiamento, Lab Cellular Physiol, I-66013 Chieti, Italy Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA

Galvan, Daniel L.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA

Gilman, Charles P.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA

Baker, Mariah R.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA

Shirokova, Natalia
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Med & Dent New Jersey, New Jersey Med Sch, Dept Pharmacol & Physiol, Newark, NJ 07103 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA

Protasi, Feliciano
论文数: 0 引用数: 0
h-index: 0
机构:
Univ G Dannunzio, Ctr Sci Invecchiamento, Lab Cellular Physiol, I-66013 Chieti, Italy Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA

Dirksen, Robert
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Rochester, Med Ctr, Dept Pharmacol & Physiol, Rochester, NY 14642 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA

Hamilton, Susan L.
论文数: 0 引用数: 0
h-index: 0
机构:
Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA Baylor Coll Med, Dept Mol Physiol & Biophys, Houston, TX 77030 USA
[3]
RYR1-related malignant hyperthermia with marked cerebellar involvement - A paradigm of heat-induced CNS injury?
[J].
Forrest, Katharine M. L.
;
Foulds, Nicola
;
Millar, John S.
;
Sutherland, Paul D.
;
Pappachan, V. John
;
Holden, Samantha
;
Mein, Rachael
;
Hopkins, Philip M.
;
Jungbluth, Heinz
.
NEUROMUSCULAR DISORDERS,
2015, 25 (02)
:138-140

Forrest, Katharine M. L.
论文数: 0 引用数: 0
h-index: 0
机构:
Southampton Childrens Hosp, Southampton Univ Hosp NHS Trust, Dept Paediat Neurol, Southampton, Hants, England Southampton Childrens Hosp, Southampton Univ Hosp NHS Trust, Dept Paediat Neurol, Southampton, Hants, England

Foulds, Nicola
论文数: 0 引用数: 0
h-index: 0
机构:
Princess Anne Hosp, Southampton Univ Hosp NHS Trust, Dept Genet, Southampton, Hants, England
Univ Southampton, Fac Med, Dept Human Genet & Genom Med, Southampton SO9 5NH, Hants, England Southampton Childrens Hosp, Southampton Univ Hosp NHS Trust, Dept Paediat Neurol, Southampton, Hants, England

Millar, John S.
论文数: 0 引用数: 0
h-index: 0
机构:
Southampton Univ Hosp NHS Trust, Dept Neuroradiol, Southampton, Hants, England Southampton Childrens Hosp, Southampton Univ Hosp NHS Trust, Dept Paediat Neurol, Southampton, Hants, England

Sutherland, Paul D.
论文数: 0 引用数: 0
h-index: 0
机构:
Southampton Univ Hosp NHS Trust, Dept Anaesthet, Southampton, Hants, England Southampton Childrens Hosp, Southampton Univ Hosp NHS Trust, Dept Paediat Neurol, Southampton, Hants, England

Pappachan, V. John
论文数: 0 引用数: 0
h-index: 0
机构:
Southampton Univ Hosp NHS Trust, Paediat Intens Care Unit, Southampton, Hants, England Southampton Childrens Hosp, Southampton Univ Hosp NHS Trust, Dept Paediat Neurol, Southampton, Hants, England

Holden, Samantha
论文数: 0 引用数: 0
h-index: 0
机构:
Southampton Univ Hosp NHS Trust, Dept Cellular Pathol, Southampton, Hants, England Southampton Childrens Hosp, Southampton Univ Hosp NHS Trust, Dept Paediat Neurol, Southampton, Hants, England

Mein, Rachael
论文数: 0 引用数: 0
h-index: 0
机构:
Guys Hosp, GSTS Pathol, London SE1 9RT, England Southampton Childrens Hosp, Southampton Univ Hosp NHS Trust, Dept Paediat Neurol, Southampton, Hants, England

Hopkins, Philip M.
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Leeds, Leeds Teaching Hosp NHS Trust, Leeds Inst Biomed & Clin Sci, Leeds, W Yorkshire, England Southampton Childrens Hosp, Southampton Univ Hosp NHS Trust, Dept Paediat Neurol, Southampton, Hants, England

Jungbluth, Heinz
论文数: 0 引用数: 0
h-index: 0
机构:
Evelinas Children Hosp, Guys & St Thomas Hosp NHS Fdn Trust, Dept Paediat Neurol, Neuromuscular Serv, London, England
Kings Coll London, Randall Div Cell & Mol Biophys, Muscle Signalling Sect, London, England
Kings Coll London, IoPPN, Dept Clin & Basic Neurosci, London, England Southampton Childrens Hosp, Southampton Univ Hosp NHS Trust, Dept Paediat Neurol, Southampton, Hants, England
[4]
Fever-induced recurrent rhabdomyolysis due to a novel mutation in the ryanodine receptor type 1 gene
[J].
Molenaar, J. P.
;
Voermans, N. C.
;
van Hoeve, B. J.
;
Kamsteeg, E. J.
;
Kluijtmans, L. A.
;
Kusters, B.
;
Jungbluth, H. J.
;
van Engelen, B. G.
.
INTERNAL MEDICINE JOURNAL,
2014, 44 (08)
:819-820

Molenaar, J. P.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen Med Ctr, Dept Neurol, Nijmegen, Netherlands Radboud Univ Nijmegen Med Ctr, Dept Neurol, Nijmegen, Netherlands

Voermans, N. C.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen Med Ctr, Dept Neurol, Nijmegen, Netherlands Radboud Univ Nijmegen Med Ctr, Dept Neurol, Nijmegen, Netherlands

van Hoeve, B. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen Med Ctr, Dept Neurol, Nijmegen, Netherlands Radboud Univ Nijmegen Med Ctr, Dept Neurol, Nijmegen, Netherlands

Kamsteeg, E. J.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen Med Ctr, Dept Genet, Nijmegen, Netherlands Radboud Univ Nijmegen Med Ctr, Dept Neurol, Nijmegen, Netherlands

Kluijtmans, L. A.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen Med Ctr, Lab Genet Endocrine & Metab Dis, Dept Lab Med, Nijmegen, Netherlands Radboud Univ Nijmegen Med Ctr, Dept Neurol, Nijmegen, Netherlands

Kusters, B.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen Med Ctr, Dept Pathol, Nijmegen, Netherlands
Maastricht Univ Med Ctr, Dept Pathol, Maastricht, Netherlands Radboud Univ Nijmegen Med Ctr, Dept Neurol, Nijmegen, Netherlands

Jungbluth, H. J.
论文数: 0 引用数: 0
h-index: 0
机构:
St Thomas Hosp, Dept Paediat Neurol, Neuromuscular Serv, Evelina Childrens Hosp, London, England
Kings Coll London, Randall Div Cell & Mol Biophys, Muscle Signalling Sect, London WC2R 2LS, England Radboud Univ Nijmegen Med Ctr, Dept Neurol, Nijmegen, Netherlands

van Engelen, B. G.
论文数: 0 引用数: 0
h-index: 0
机构:
Radboud Univ Nijmegen Med Ctr, Dept Neurol, Nijmegen, Netherlands Radboud Univ Nijmegen Med Ctr, Dept Neurol, Nijmegen, Netherlands
[5]
Hypothesis: Exertional Heat Stroke-Induced Myopathy and Genetically Inherited Malignant Hyperthermia Represent the Same Disorder, the Human Stress Syndrome
[J].
Zhao, Xuesheng
;
Song, Qing
;
Gao, Yan
.
CELL BIOCHEMISTRY AND BIOPHYSICS,
2014, 70 (02)
:1325-1329

Zhao, Xuesheng
论文数: 0 引用数: 0
h-index: 0
机构:
Shenyang Mil Reg Gen Hosp, Emergency Dept, Shenyang, Peoples R China
Peoples Liberat Army, Emergency Dept, Gen Hosp, Beijing, Peoples R China Shenyang Mil Reg Gen Hosp, Emergency Dept, Shenyang, Peoples R China

Song, Qing
论文数: 0 引用数: 0
h-index: 0
机构:
Peoples Liberat Army, Emergency Dept, Gen Hosp, Beijing, Peoples R China Shenyang Mil Reg Gen Hosp, Emergency Dept, Shenyang, Peoples R China

Gao, Yan
论文数: 0 引用数: 0
h-index: 0
机构:
Shenyang Mil Reg Gen Hosp, Emergency Dept, Shenyang, Peoples R China Shenyang Mil Reg Gen Hosp, Emergency Dept, Shenyang, Peoples R China