共 5 条
New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7
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作者:

Darin, N.
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Sahlgrens Univ Hosp, Dept Pathol, S-41345 Gothenburg, Sweden Sahlgrens Univ Hosp, Dept Pathol, S-41345 Gothenburg, Sweden

Tajsharghi, H.
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Sahlgrens Univ Hosp, Dept Pathol, S-41345 Gothenburg, Sweden Sahlgrens Univ Hosp, Dept Pathol, S-41345 Gothenburg, Sweden

Ostman-Smith, I.
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Sahlgrens Univ Hosp, Dept Pathol, S-41345 Gothenburg, Sweden Sahlgrens Univ Hosp, Dept Pathol, S-41345 Gothenburg, Sweden

Gilljam, T.
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Sahlgrens Univ Hosp, Dept Pathol, S-41345 Gothenburg, Sweden Sahlgrens Univ Hosp, Dept Pathol, S-41345 Gothenburg, Sweden

Oldfors, A.
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Sahlgrens Univ Hosp, Dept Pathol, S-41345 Gothenburg, Sweden Sahlgrens Univ Hosp, Dept Pathol, S-41345 Gothenburg, Sweden
机构:
[1] Sahlgrens Univ Hosp, Dept Pathol, S-41345 Gothenburg, Sweden
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D O I:
10.1212/01.wnl.0000264430.55233.72
中图分类号:
R74 [神经病学与精神病学];
学科分类号:
摘要:
[No abstract available]
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页码:2041 / 2042
页数:2
相关论文
共 5 条
[1]
Mutations of the light meromyosin domain of the β-myosin heavy chain rod in hypertrophic cardiomyopathy
[J].
Blair, E
;
Redwood, C
;
Oliveira, MD
;
Moolman-Smook, JC
;
Brink, P
;
Corfield, VA
;
Östman-Smith, I
;
Watkins, H
.
CIRCULATION RESEARCH,
2002, 90 (03)
:263-269

Blair, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford & John Radcliffe Hosp, Dept Cardiovasc Med, Oxford, England

Redwood, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford & John Radcliffe Hosp, Dept Cardiovasc Med, Oxford, England

Oliveira, MD
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford & John Radcliffe Hosp, Dept Cardiovasc Med, Oxford, England

Moolman-Smook, JC
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h-index: 0
机构: Univ Oxford & John Radcliffe Hosp, Dept Cardiovasc Med, Oxford, England

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Corfield, VA
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford & John Radcliffe Hosp, Dept Cardiovasc Med, Oxford, England

Östman-Smith, I
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford & John Radcliffe Hosp, Dept Cardiovasc Med, Oxford, England

Watkins, H
论文数: 0 引用数: 0
h-index: 0
机构: Univ Oxford & John Radcliffe Hosp, Dept Cardiovasc Med, Oxford, England
[2]
Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy
[J].
Lamont, PJ
;
Udd, B
;
Mastaglia, FL
;
de Visser, M
;
Hedera, P
;
Voit, T
;
Bridges, LR
;
Fabian, V
;
Rozemuller, A
;
Laing, NG
.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY,
2006, 77 (02)
:208-215

Lamont, PJ
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Neurogenet Unit, Dept Neurol, Perth, WA 6847, Australia

Udd, B
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Neurogenet Unit, Dept Neurol, Perth, WA 6847, Australia

Mastaglia, FL
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Neurogenet Unit, Dept Neurol, Perth, WA 6847, Australia

de Visser, M
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机构: Royal Perth Hosp, Neurogenet Unit, Dept Neurol, Perth, WA 6847, Australia

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Voit, T
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Neurogenet Unit, Dept Neurol, Perth, WA 6847, Australia

Bridges, LR
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Neurogenet Unit, Dept Neurol, Perth, WA 6847, Australia

Fabian, V
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Neurogenet Unit, Dept Neurol, Perth, WA 6847, Australia

Rozemuller, A
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Neurogenet Unit, Dept Neurol, Perth, WA 6847, Australia

Laing, NG
论文数: 0 引用数: 0
h-index: 0
机构: Royal Perth Hosp, Neurogenet Unit, Dept Neurol, Perth, WA 6847, Australia
[3]
Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1)
[J].
Meredith, C
;
Herrmann, R
;
Parry, C
;
Liyanage, K
;
Dye, DE
;
Durling, HJ
;
Duff, RM
;
Beckman, K
;
de Visser, M
;
van der Graaff, MM
;
Hedera, P
;
Fink, JK
;
Petty, EM
;
Lamont, P
;
Fabian, V
;
Bridges, L
;
Voit, T
;
Mastaglia, FL
;
Laing, NG
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2004, 75 (04)
:703-708

Meredith, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Western Australia, Queen Elizabeth II Med Ctr, Australian Neuromuscular Res Inst, Ctr Neuromuscular & Neurol Disorders, Nedlands, WA 6009, Australia

Herrmann, R
论文数: 0 引用数: 0
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机构: Univ Western Australia, Queen Elizabeth II Med Ctr, Australian Neuromuscular Res Inst, Ctr Neuromuscular & Neurol Disorders, Nedlands, WA 6009, Australia

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Liyanage, K
论文数: 0 引用数: 0
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机构: Univ Western Australia, Queen Elizabeth II Med Ctr, Australian Neuromuscular Res Inst, Ctr Neuromuscular & Neurol Disorders, Nedlands, WA 6009, Australia

Dye, DE
论文数: 0 引用数: 0
h-index: 0
机构: Univ Western Australia, Queen Elizabeth II Med Ctr, Australian Neuromuscular Res Inst, Ctr Neuromuscular & Neurol Disorders, Nedlands, WA 6009, Australia

Durling, HJ
论文数: 0 引用数: 0
h-index: 0
机构: Univ Western Australia, Queen Elizabeth II Med Ctr, Australian Neuromuscular Res Inst, Ctr Neuromuscular & Neurol Disorders, Nedlands, WA 6009, Australia

Duff, RM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Western Australia, Queen Elizabeth II Med Ctr, Australian Neuromuscular Res Inst, Ctr Neuromuscular & Neurol Disorders, Nedlands, WA 6009, Australia

Beckman, K
论文数: 0 引用数: 0
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机构: Univ Western Australia, Queen Elizabeth II Med Ctr, Australian Neuromuscular Res Inst, Ctr Neuromuscular & Neurol Disorders, Nedlands, WA 6009, Australia

de Visser, M
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机构: Univ Western Australia, Queen Elizabeth II Med Ctr, Australian Neuromuscular Res Inst, Ctr Neuromuscular & Neurol Disorders, Nedlands, WA 6009, Australia

van der Graaff, MM
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机构: Univ Western Australia, Queen Elizabeth II Med Ctr, Australian Neuromuscular Res Inst, Ctr Neuromuscular & Neurol Disorders, Nedlands, WA 6009, Australia

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Fink, JK
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机构: Univ Western Australia, Queen Elizabeth II Med Ctr, Australian Neuromuscular Res Inst, Ctr Neuromuscular & Neurol Disorders, Nedlands, WA 6009, Australia

Petty, EM
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机构: Univ Western Australia, Queen Elizabeth II Med Ctr, Australian Neuromuscular Res Inst, Ctr Neuromuscular & Neurol Disorders, Nedlands, WA 6009, Australia

Lamont, P
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机构: Univ Western Australia, Queen Elizabeth II Med Ctr, Australian Neuromuscular Res Inst, Ctr Neuromuscular & Neurol Disorders, Nedlands, WA 6009, Australia

Fabian, V
论文数: 0 引用数: 0
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机构: Univ Western Australia, Queen Elizabeth II Med Ctr, Australian Neuromuscular Res Inst, Ctr Neuromuscular & Neurol Disorders, Nedlands, WA 6009, Australia

Bridges, L
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机构: Univ Western Australia, Queen Elizabeth II Med Ctr, Australian Neuromuscular Res Inst, Ctr Neuromuscular & Neurol Disorders, Nedlands, WA 6009, Australia

Voit, T
论文数: 0 引用数: 0
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机构: Univ Western Australia, Queen Elizabeth II Med Ctr, Australian Neuromuscular Res Inst, Ctr Neuromuscular & Neurol Disorders, Nedlands, WA 6009, Australia

Mastaglia, FL
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机构: Univ Western Australia, Queen Elizabeth II Med Ctr, Australian Neuromuscular Res Inst, Ctr Neuromuscular & Neurol Disorders, Nedlands, WA 6009, Australia

Laing, NG
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h-index: 0
机构: Univ Western Australia, Queen Elizabeth II Med Ctr, Australian Neuromuscular Res Inst, Ctr Neuromuscular & Neurol Disorders, Nedlands, WA 6009, Australia
[4]
3-DIMENSIONAL STRUCTURE OF MYOSIN SUBFRAGMENT-1 - A MOLECULAR MOTOR
[J].
RAYMENT, I
;
RYPNIEWSKI, WR
;
SCHMIDTBASE, K
;
SMITH, R
;
TOMCHICK, DR
;
BENNING, MM
;
WINKELMANN, DA
;
WESENBERG, G
;
HOLDEN, HM
.
SCIENCE,
1993, 261 (5117)
:50-58

RAYMENT, I
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WISCONSIN,INST ENZYME RES,MADISON,WI 53705

RYPNIEWSKI, WR
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h-index: 0
机构: UNIV WISCONSIN,INST ENZYME RES,MADISON,WI 53705

SCHMIDTBASE, K
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WISCONSIN,INST ENZYME RES,MADISON,WI 53705

SMITH, R
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机构: UNIV WISCONSIN,INST ENZYME RES,MADISON,WI 53705

TOMCHICK, DR
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机构: UNIV WISCONSIN,INST ENZYME RES,MADISON,WI 53705

BENNING, MM
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机构: UNIV WISCONSIN,INST ENZYME RES,MADISON,WI 53705

WINKELMANN, DA
论文数: 0 引用数: 0
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机构: UNIV WISCONSIN,INST ENZYME RES,MADISON,WI 53705

WESENBERG, G
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机构: UNIV WISCONSIN,INST ENZYME RES,MADISON,WI 53705

HOLDEN, HM
论文数: 0 引用数: 0
h-index: 0
机构: UNIV WISCONSIN,INST ENZYME RES,MADISON,WI 53705
[5]
Myosin storage myopathy associated with a heterozygous missense mutation in MYH7
[J].
Tajsharghi, H
;
Thornell, LE
;
Lindberg, C
;
Lindvall, B
;
Henriksson, KG
;
Oldfors, A
.
ANNALS OF NEUROLOGY,
2003, 54 (04)
:494-500

Tajsharghi, H
论文数: 0 引用数: 0
h-index: 0
机构: Sahlgrens Univ Hosp, Dept Pathol, Neuromuscular Ctr, S-41345 Gothenburg, Sweden

Thornell, LE
论文数: 0 引用数: 0
h-index: 0
机构: Sahlgrens Univ Hosp, Dept Pathol, Neuromuscular Ctr, S-41345 Gothenburg, Sweden

Lindberg, C
论文数: 0 引用数: 0
h-index: 0
机构: Sahlgrens Univ Hosp, Dept Pathol, Neuromuscular Ctr, S-41345 Gothenburg, Sweden

Lindvall, B
论文数: 0 引用数: 0
h-index: 0
机构: Sahlgrens Univ Hosp, Dept Pathol, Neuromuscular Ctr, S-41345 Gothenburg, Sweden

Henriksson, KG
论文数: 0 引用数: 0
h-index: 0
机构: Sahlgrens Univ Hosp, Dept Pathol, Neuromuscular Ctr, S-41345 Gothenburg, Sweden

Oldfors, A
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h-index: 0
机构:
Sahlgrens Univ Hosp, Dept Pathol, Neuromuscular Ctr, S-41345 Gothenburg, Sweden Sahlgrens Univ Hosp, Dept Pathol, Neuromuscular Ctr, S-41345 Gothenburg, Sweden