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Cap disease uncapped
被引:8
作者
:
Goebel, Hans H.
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Mainz, Med Ctr, Dept Neuropathol, D-55131 Mainz, Germany
Univ Mainz, Med Ctr, Dept Neuropathol, D-55131 Mainz, Germany
Goebel, Hans H.
[
1
]
机构
:
[1]
Univ Mainz, Med Ctr, Dept Neuropathol, D-55131 Mainz, Germany
来源
:
NEUROMUSCULAR DISORDERS
|
2007年
/ 17卷
/ 06期
关键词
:
D O I
:
10.1016/j.nmd.2007.03.011
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]
引用
收藏
页码:429 / 432
页数:4
相关论文
共 18 条
[1]
The wide spectrum of myofibrillar myopathy suggests a multifactorial etiology and pathogenesis
[J].
Amato, AA
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Texas, Hlth Sci Ctr, Dept Med Neurol, San Antonio, TX 78284 USA
Amato, AA
;
Kagan-Hallet, K
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Texas, Hlth Sci Ctr, Dept Med Neurol, San Antonio, TX 78284 USA
Kagan-Hallet, K
;
Jackson, CE
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Texas, Hlth Sci Ctr, Dept Med Neurol, San Antonio, TX 78284 USA
Jackson, CE
;
Lampkin, S
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Texas, Hlth Sci Ctr, Dept Med Neurol, San Antonio, TX 78284 USA
Lampkin, S
;
Wolfe, GI
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Texas, Hlth Sci Ctr, Dept Med Neurol, San Antonio, TX 78284 USA
Wolfe, GI
;
Ferrante, M
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Texas, Hlth Sci Ctr, Dept Med Neurol, San Antonio, TX 78284 USA
Ferrante, M
;
Bigio, EH
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Texas, Hlth Sci Ctr, Dept Med Neurol, San Antonio, TX 78284 USA
Bigio, EH
;
Barohn, RJ
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Texas, Hlth Sci Ctr, Dept Med Neurol, San Antonio, TX 78284 USA
Barohn, RJ
.
NEUROLOGY,
1998,
51
(06)
:1646
-1655
[2]
Variable presentation of nemaline myopathy: Novel mutation of alpha actin gene
[J].
Bouldin, Anthony A.
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Washington, Dept Neurol, Div Pediat Neurol, Seattle, WA 98105 USA
Bouldin, Anthony A.
;
Parisi, Melissa A.
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Washington, Dept Neurol, Div Pediat Neurol, Seattle, WA 98105 USA
Parisi, Melissa A.
;
Laing, Nigel
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Washington, Dept Neurol, Div Pediat Neurol, Seattle, WA 98105 USA
Laing, Nigel
;
Patterson, Kathleen
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Washington, Dept Neurol, Div Pediat Neurol, Seattle, WA 98105 USA
Patterson, Kathleen
;
Gospe, Sidney M., Jr.
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Washington, Dept Neurol, Div Pediat Neurol, Seattle, WA 98105 USA
Gospe, Sidney M., Jr.
.
MUSCLE & NERVE,
2007,
35
(02)
:254
-258
[3]
'Cap myopathy':: Case report of a family
[J].
Cuisset, JM
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Hosp Reg Univ, Serv Neuropediat, F-59037 Lille, France
Ctr Hosp Reg Univ, Serv Neuropediat, F-59037 Lille, France
Cuisset, JM
;
Maurage, CA
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Hosp Reg Univ, Serv Neuropediat, F-59037 Lille, France
Maurage, CA
;
Pellissier, J
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Hosp Reg Univ, Serv Neuropediat, F-59037 Lille, France
Pellissier, J
;
Barois, A
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Hosp Reg Univ, Serv Neuropediat, F-59037 Lille, France
Barois, A
;
Urtizberea, JA
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Hosp Reg Univ, Serv Neuropediat, F-59037 Lille, France
Urtizberea, JA
;
Laing, N
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Hosp Reg Univ, Serv Neuropediat, F-59037 Lille, France
Laing, N
;
Tajsharghi, H
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Hosp Reg Univ, Serv Neuropediat, F-59037 Lille, France
Tajsharghi, H
;
Vallée, L
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Hosp Reg Univ, Serv Neuropediat, F-59037 Lille, France
Vallée, L
.
NEUROMUSCULAR DISORDERS,
2006,
16
(04)
:277
-281
[4]
Patterns of abnormal protein expression in target formations and unstructured cores
[J].
DeBleecker, JL
论文数:
0
引用数:
0
h-index:
0
机构:
MAYO CLIN & MAYO FDN,NEUROMUSCULAR RES LAB,ROCHESTER,MN 55905
DeBleecker, JL
;
Ertl, BB
论文数:
0
引用数:
0
h-index:
0
机构:
MAYO CLIN & MAYO FDN,NEUROMUSCULAR RES LAB,ROCHESTER,MN 55905
Ertl, BB
;
Engel, AG
论文数:
0
引用数:
0
h-index:
0
机构:
MAYO CLIN & MAYO FDN,NEUROMUSCULAR RES LAB,ROCHESTER,MN 55905
Engel, AG
.
NEUROMUSCULAR DISORDERS,
1996,
6
(05)
:339
-349
[5]
Myofibrillar myopathy with abnormal foci of desmin positivity .2. Immunocytochemical analysis reveals accumulation of multiple other proteins
[J].
DeBleecker, JL
论文数:
0
引用数:
0
h-index:
0
机构:
MAYO CLIN & MAYO FDN, NEUROMUSCULAR RES LAB, ROCHESTER, MN 55905 USA
DeBleecker, JL
;
Engel, AG
论文数:
0
引用数:
0
h-index:
0
机构:
MAYO CLIN & MAYO FDN, NEUROMUSCULAR RES LAB, ROCHESTER, MN 55905 USA
Engel, AG
;
Ertl, BB
论文数:
0
引用数:
0
h-index:
0
机构:
MAYO CLIN & MAYO FDN, NEUROMUSCULAR RES LAB, ROCHESTER, MN 55905 USA
Ertl, BB
.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY,
1996,
55
(05)
:563
-577
[6]
Mutations in the β-tropomyosin (TPM2) gene -: a rare cause of nemaline myopathy
[J].
论文数:
引用数:
h-index:
机构:
Donner, K
;
论文数:
引用数:
h-index:
机构:
Ollikainen, M
;
Ridanpää, M
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Helsinki, Dept Med Genet, Helsinki, Finland
Ridanpää, M
;
Christen, HJ
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Helsinki, Dept Med Genet, Helsinki, Finland
Christen, HJ
;
论文数:
引用数:
h-index:
机构:
Goebel, HH
;
论文数:
引用数:
h-index:
机构:
de Visser, M
;
论文数:
引用数:
h-index:
机构:
Pelin, K
;
Wallgren-Pettersson, C
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Helsinki, Dept Med Genet, Helsinki, Finland
Univ Helsinki, Dept Med Genet, Helsinki, Finland
Wallgren-Pettersson, C
.
NEUROMUSCULAR DISORDERS,
2002,
12
(02)
:151
-158
[7]
Dubowitz V, 1969, Neuropaediatrie, V1, P137, DOI 10.1055/s-0028-1091869
[8]
CAP DISEASE - NEW CONGENITAL MYOPATHY
[J].
FIDZIANSKA, A
论文数:
0
引用数:
0
h-index:
0
机构:
MED ACAD WARSAW, DEPT NEUROL, PL-02004 WARSAW, POLAND
MED ACAD WARSAW, DEPT NEUROL, PL-02004 WARSAW, POLAND
FIDZIANSKA, A
;
BADURSKA, B
论文数:
0
引用数:
0
h-index:
0
机构:
MED ACAD WARSAW, DEPT NEUROL, PL-02004 WARSAW, POLAND
MED ACAD WARSAW, DEPT NEUROL, PL-02004 WARSAW, POLAND
BADURSKA, B
;
RYNIEWICZ, B
论文数:
0
引用数:
0
h-index:
0
机构:
MED ACAD WARSAW, DEPT NEUROL, PL-02004 WARSAW, POLAND
MED ACAD WARSAW, DEPT NEUROL, PL-02004 WARSAW, POLAND
RYNIEWICZ, B
;
DEMBEK, I
论文数:
0
引用数:
0
h-index:
0
机构:
MED ACAD WARSAW, DEPT NEUROL, PL-02004 WARSAW, POLAND
MED ACAD WARSAW, DEPT NEUROL, PL-02004 WARSAW, POLAND
DEMBEK, I
.
NEUROLOGY,
1981,
31
(09)
:1113
-1120
[9]
Cap disease - a failure in the correct muscle fibre formation
[J].
Fidzianska, A
论文数:
0
引用数:
0
h-index:
0
机构:
Polish Acad Sci, Med Acad, Dept Neurol, PL-02097 Warsaw, Poland
Fidzianska, A
.
JOURNAL OF THE NEUROLOGICAL SCIENCES,
2002,
201
(1-2)
:27
-31
[10]
FOLLOW-UP-STUDIES IN A CASE OF UNUSUAL CONGENITAL MYOPATHY, SUGGESTIVE OF NEMALINE TYPE
[J].
GIBBELS, E
论文数:
0
引用数:
0
h-index:
0
机构:
STADT KINDERKRANKENHAUS, W-5000 COLOGNE 60, GERMANY
STADT KINDERKRANKENHAUS, W-5000 COLOGNE 60, GERMANY
GIBBELS, E
;
KELLERMANN, K
论文数:
0
引用数:
0
h-index:
0
机构:
STADT KINDERKRANKENHAUS, W-5000 COLOGNE 60, GERMANY
STADT KINDERKRANKENHAUS, W-5000 COLOGNE 60, GERMANY
KELLERMANN, K
;
SCHADLICH, HJ
论文数:
0
引用数:
0
h-index:
0
机构:
STADT KINDERKRANKENHAUS, W-5000 COLOGNE 60, GERMANY
STADT KINDERKRANKENHAUS, W-5000 COLOGNE 60, GERMANY
SCHADLICH, HJ
;
ADAMS, R
论文数:
0
引用数:
0
h-index:
0
机构:
STADT KINDERKRANKENHAUS, W-5000 COLOGNE 60, GERMANY
STADT KINDERKRANKENHAUS, W-5000 COLOGNE 60, GERMANY
ADAMS, R
;
HAUPT, WF
论文数:
0
引用数:
0
h-index:
0
机构:
STADT KINDERKRANKENHAUS, W-5000 COLOGNE 60, GERMANY
STADT KINDERKRANKENHAUS, W-5000 COLOGNE 60, GERMANY
HAUPT, WF
.
ACTA NEUROPATHOLOGICA,
1992,
83
(04)
:371
-378
←
1
2
→
共 18 条
[1]
The wide spectrum of myofibrillar myopathy suggests a multifactorial etiology and pathogenesis
[J].
Amato, AA
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Texas, Hlth Sci Ctr, Dept Med Neurol, San Antonio, TX 78284 USA
Amato, AA
;
Kagan-Hallet, K
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Texas, Hlth Sci Ctr, Dept Med Neurol, San Antonio, TX 78284 USA
Kagan-Hallet, K
;
Jackson, CE
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Texas, Hlth Sci Ctr, Dept Med Neurol, San Antonio, TX 78284 USA
Jackson, CE
;
Lampkin, S
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Texas, Hlth Sci Ctr, Dept Med Neurol, San Antonio, TX 78284 USA
Lampkin, S
;
Wolfe, GI
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Texas, Hlth Sci Ctr, Dept Med Neurol, San Antonio, TX 78284 USA
Wolfe, GI
;
Ferrante, M
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Texas, Hlth Sci Ctr, Dept Med Neurol, San Antonio, TX 78284 USA
Ferrante, M
;
Bigio, EH
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Texas, Hlth Sci Ctr, Dept Med Neurol, San Antonio, TX 78284 USA
Bigio, EH
;
Barohn, RJ
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Texas, Hlth Sci Ctr, Dept Med Neurol, San Antonio, TX 78284 USA
Barohn, RJ
.
NEUROLOGY,
1998,
51
(06)
:1646
-1655
[2]
Variable presentation of nemaline myopathy: Novel mutation of alpha actin gene
[J].
Bouldin, Anthony A.
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Washington, Dept Neurol, Div Pediat Neurol, Seattle, WA 98105 USA
Bouldin, Anthony A.
;
Parisi, Melissa A.
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Washington, Dept Neurol, Div Pediat Neurol, Seattle, WA 98105 USA
Parisi, Melissa A.
;
Laing, Nigel
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Washington, Dept Neurol, Div Pediat Neurol, Seattle, WA 98105 USA
Laing, Nigel
;
Patterson, Kathleen
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Washington, Dept Neurol, Div Pediat Neurol, Seattle, WA 98105 USA
Patterson, Kathleen
;
Gospe, Sidney M., Jr.
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Washington, Dept Neurol, Div Pediat Neurol, Seattle, WA 98105 USA
Gospe, Sidney M., Jr.
.
MUSCLE & NERVE,
2007,
35
(02)
:254
-258
[3]
'Cap myopathy':: Case report of a family
[J].
Cuisset, JM
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Hosp Reg Univ, Serv Neuropediat, F-59037 Lille, France
Ctr Hosp Reg Univ, Serv Neuropediat, F-59037 Lille, France
Cuisset, JM
;
Maurage, CA
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Hosp Reg Univ, Serv Neuropediat, F-59037 Lille, France
Maurage, CA
;
Pellissier, J
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Hosp Reg Univ, Serv Neuropediat, F-59037 Lille, France
Pellissier, J
;
Barois, A
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Hosp Reg Univ, Serv Neuropediat, F-59037 Lille, France
Barois, A
;
Urtizberea, JA
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Hosp Reg Univ, Serv Neuropediat, F-59037 Lille, France
Urtizberea, JA
;
Laing, N
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Hosp Reg Univ, Serv Neuropediat, F-59037 Lille, France
Laing, N
;
Tajsharghi, H
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Hosp Reg Univ, Serv Neuropediat, F-59037 Lille, France
Tajsharghi, H
;
Vallée, L
论文数:
0
引用数:
0
h-index:
0
机构:
Ctr Hosp Reg Univ, Serv Neuropediat, F-59037 Lille, France
Vallée, L
.
NEUROMUSCULAR DISORDERS,
2006,
16
(04)
:277
-281
[4]
Patterns of abnormal protein expression in target formations and unstructured cores
[J].
DeBleecker, JL
论文数:
0
引用数:
0
h-index:
0
机构:
MAYO CLIN & MAYO FDN,NEUROMUSCULAR RES LAB,ROCHESTER,MN 55905
DeBleecker, JL
;
Ertl, BB
论文数:
0
引用数:
0
h-index:
0
机构:
MAYO CLIN & MAYO FDN,NEUROMUSCULAR RES LAB,ROCHESTER,MN 55905
Ertl, BB
;
Engel, AG
论文数:
0
引用数:
0
h-index:
0
机构:
MAYO CLIN & MAYO FDN,NEUROMUSCULAR RES LAB,ROCHESTER,MN 55905
Engel, AG
.
NEUROMUSCULAR DISORDERS,
1996,
6
(05)
:339
-349
[5]
Myofibrillar myopathy with abnormal foci of desmin positivity .2. Immunocytochemical analysis reveals accumulation of multiple other proteins
[J].
DeBleecker, JL
论文数:
0
引用数:
0
h-index:
0
机构:
MAYO CLIN & MAYO FDN, NEUROMUSCULAR RES LAB, ROCHESTER, MN 55905 USA
DeBleecker, JL
;
Engel, AG
论文数:
0
引用数:
0
h-index:
0
机构:
MAYO CLIN & MAYO FDN, NEUROMUSCULAR RES LAB, ROCHESTER, MN 55905 USA
Engel, AG
;
Ertl, BB
论文数:
0
引用数:
0
h-index:
0
机构:
MAYO CLIN & MAYO FDN, NEUROMUSCULAR RES LAB, ROCHESTER, MN 55905 USA
Ertl, BB
.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY,
1996,
55
(05)
:563
-577
[6]
Mutations in the β-tropomyosin (TPM2) gene -: a rare cause of nemaline myopathy
[J].
论文数:
引用数:
h-index:
机构:
Donner, K
;
论文数:
引用数:
h-index:
机构:
Ollikainen, M
;
Ridanpää, M
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Helsinki, Dept Med Genet, Helsinki, Finland
Ridanpää, M
;
Christen, HJ
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Helsinki, Dept Med Genet, Helsinki, Finland
Christen, HJ
;
论文数:
引用数:
h-index:
机构:
Goebel, HH
;
论文数:
引用数:
h-index:
机构:
de Visser, M
;
论文数:
引用数:
h-index:
机构:
Pelin, K
;
Wallgren-Pettersson, C
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Helsinki, Dept Med Genet, Helsinki, Finland
Univ Helsinki, Dept Med Genet, Helsinki, Finland
Wallgren-Pettersson, C
.
NEUROMUSCULAR DISORDERS,
2002,
12
(02)
:151
-158
[7]
Dubowitz V, 1969, Neuropaediatrie, V1, P137, DOI 10.1055/s-0028-1091869
[8]
CAP DISEASE - NEW CONGENITAL MYOPATHY
[J].
FIDZIANSKA, A
论文数:
0
引用数:
0
h-index:
0
机构:
MED ACAD WARSAW, DEPT NEUROL, PL-02004 WARSAW, POLAND
MED ACAD WARSAW, DEPT NEUROL, PL-02004 WARSAW, POLAND
FIDZIANSKA, A
;
BADURSKA, B
论文数:
0
引用数:
0
h-index:
0
机构:
MED ACAD WARSAW, DEPT NEUROL, PL-02004 WARSAW, POLAND
MED ACAD WARSAW, DEPT NEUROL, PL-02004 WARSAW, POLAND
BADURSKA, B
;
RYNIEWICZ, B
论文数:
0
引用数:
0
h-index:
0
机构:
MED ACAD WARSAW, DEPT NEUROL, PL-02004 WARSAW, POLAND
MED ACAD WARSAW, DEPT NEUROL, PL-02004 WARSAW, POLAND
RYNIEWICZ, B
;
DEMBEK, I
论文数:
0
引用数:
0
h-index:
0
机构:
MED ACAD WARSAW, DEPT NEUROL, PL-02004 WARSAW, POLAND
MED ACAD WARSAW, DEPT NEUROL, PL-02004 WARSAW, POLAND
DEMBEK, I
.
NEUROLOGY,
1981,
31
(09)
:1113
-1120
[9]
Cap disease - a failure in the correct muscle fibre formation
[J].
Fidzianska, A
论文数:
0
引用数:
0
h-index:
0
机构:
Polish Acad Sci, Med Acad, Dept Neurol, PL-02097 Warsaw, Poland
Fidzianska, A
.
JOURNAL OF THE NEUROLOGICAL SCIENCES,
2002,
201
(1-2)
:27
-31
[10]
FOLLOW-UP-STUDIES IN A CASE OF UNUSUAL CONGENITAL MYOPATHY, SUGGESTIVE OF NEMALINE TYPE
[J].
GIBBELS, E
论文数:
0
引用数:
0
h-index:
0
机构:
STADT KINDERKRANKENHAUS, W-5000 COLOGNE 60, GERMANY
STADT KINDERKRANKENHAUS, W-5000 COLOGNE 60, GERMANY
GIBBELS, E
;
KELLERMANN, K
论文数:
0
引用数:
0
h-index:
0
机构:
STADT KINDERKRANKENHAUS, W-5000 COLOGNE 60, GERMANY
STADT KINDERKRANKENHAUS, W-5000 COLOGNE 60, GERMANY
KELLERMANN, K
;
SCHADLICH, HJ
论文数:
0
引用数:
0
h-index:
0
机构:
STADT KINDERKRANKENHAUS, W-5000 COLOGNE 60, GERMANY
STADT KINDERKRANKENHAUS, W-5000 COLOGNE 60, GERMANY
SCHADLICH, HJ
;
ADAMS, R
论文数:
0
引用数:
0
h-index:
0
机构:
STADT KINDERKRANKENHAUS, W-5000 COLOGNE 60, GERMANY
STADT KINDERKRANKENHAUS, W-5000 COLOGNE 60, GERMANY
ADAMS, R
;
HAUPT, WF
论文数:
0
引用数:
0
h-index:
0
机构:
STADT KINDERKRANKENHAUS, W-5000 COLOGNE 60, GERMANY
STADT KINDERKRANKENHAUS, W-5000 COLOGNE 60, GERMANY
HAUPT, WF
.
ACTA NEUROPATHOLOGICA,
1992,
83
(04)
:371
-378
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