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Rigid spine muscular dystrophy due to SEPN1 mutation presenting as cor pulmonale
被引:15
作者
:
Venance, SL
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Western Ontario, Neuromuscular Clin, London Hlth Sci Ctr, London, ON N6A 4G5, Canada
Venance, SL
Koopman, WJ
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Western Ontario, Neuromuscular Clin, London Hlth Sci Ctr, London, ON N6A 4G5, Canada
Koopman, WJ
Miskie, BA
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Western Ontario, Neuromuscular Clin, London Hlth Sci Ctr, London, ON N6A 4G5, Canada
Miskie, BA
Hegele, RA
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Western Ontario, Neuromuscular Clin, London Hlth Sci Ctr, London, ON N6A 4G5, Canada
Hegele, RA
Hahn, AF
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Western Ontario, Neuromuscular Clin, London Hlth Sci Ctr, London, ON N6A 4G5, Canada
Hahn, AF
机构
:
[1]
Univ Western Ontario, Neuromuscular Clin, London Hlth Sci Ctr, London, ON N6A 4G5, Canada
[2]
Univ Western Ontario, Robarts Res Inst, London, ON N6A 4G5, Canada
来源
:
NEUROLOGY
|
2005年
/ 64卷
/ 02期
关键词
:
D O I
:
10.1212/01.WNL.0000149755.85666.DB
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:395 / 396
页数:2
相关论文
共 8 条
[1]
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease:: Reassessing the nosology of early-onset myopathies
Ferreiro, A
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Ferreiro, A
Quijano-Roy, S
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Quijano-Roy, S
Pichereau, C
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Pichereau, C
Moghadaszadeh, B
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Moghadaszadeh, B
Goemans, N
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Goemans, N
Bönnemann, C
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Bönnemann, C
Jungbluth, H
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Jungbluth, H
Straub, V
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Straub, V
Villanova, M
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Villanova, M
Leroy, JP
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Leroy, JP
Romero, NB
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Romero, NB
Martin, JJ
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Martin, JJ
Muntoni, F
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Muntoni, F
Voit, T
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Voit, T
Estournet, B
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Estournet, B
Richard, P
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Richard, P
Fardeau, M
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Fardeau, M
Guicheney, P
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Guicheney, P
[J].
AMERICAN JOURNAL OF HUMAN GENETICS,
2002,
71
(04)
: 739
-
749
[2]
Flanigan KM, 2000, ANN NEUROL, V47, P152, DOI 10.1002/1531-8249(200002)47:2<152::AID-ANA4>3.0.CO
[3]
2-U
[4]
Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif
Lescure, A
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Biol Mol & Cellulaire, CNRS, UPR 9002, F-67084 Strasbourg, France
Lescure, A
Gautheret, D
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Biol Mol & Cellulaire, CNRS, UPR 9002, F-67084 Strasbourg, France
Gautheret, D
Carbon, P
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Biol Mol & Cellulaire, CNRS, UPR 9002, F-67084 Strasbourg, France
Carbon, P
Krol, A
论文数:
0
引用数:
0
h-index:
0
机构:
Inst Biol Mol & Cellulaire, CNRS, UPR 9002, F-67084 Strasbourg, France
Krol, A
[J].
JOURNAL OF BIOLOGICAL CHEMISTRY,
1999,
274
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38154
[5]
Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1)
Mercuri, E
论文数:
0
引用数:
0
h-index:
0
机构:
Univ London Imperial Coll Sci Technol & Med, Dept Paediat, Dubowitz Neuromuscular Ctr, Hammersmith Hosp, London W12 OHN, England
Mercuri, E
Talim, B
论文数:
0
引用数:
0
h-index:
0
机构:
Univ London Imperial Coll Sci Technol & Med, Dept Paediat, Dubowitz Neuromuscular Ctr, Hammersmith Hosp, London W12 OHN, England
Talim, B
Moghadaszadeh, B
论文数:
0
引用数:
0
h-index:
0
机构:
Univ London Imperial Coll Sci Technol & Med, Dept Paediat, Dubowitz Neuromuscular Ctr, Hammersmith Hosp, London W12 OHN, England
Moghadaszadeh, B
Petit, N
论文数:
0
引用数:
0
h-index:
0
机构:
Univ London Imperial Coll Sci Technol & Med, Dept Paediat, Dubowitz Neuromuscular Ctr, Hammersmith Hosp, London W12 OHN, England
Petit, N
Brockington, M
论文数:
0
引用数:
0
h-index:
0
机构:
Univ London Imperial Coll Sci Technol & Med, Dept Paediat, Dubowitz Neuromuscular Ctr, Hammersmith Hosp, London W12 OHN, England
Brockington, M
Counsell, S
论文数:
0
引用数:
0
h-index:
0
机构:
Univ London Imperial Coll Sci Technol & Med, Dept Paediat, Dubowitz Neuromuscular Ctr, Hammersmith Hosp, London W12 OHN, England
Counsell, S
Guicheney, P
论文数:
0
引用数:
0
h-index:
0
机构:
Univ London Imperial Coll Sci Technol & Med, Dept Paediat, Dubowitz Neuromuscular Ctr, Hammersmith Hosp, London W12 OHN, England
Guicheney, P
Muntoni, F
论文数:
0
引用数:
0
h-index:
0
机构:
Univ London Imperial Coll Sci Technol & Med, Dept Paediat, Dubowitz Neuromuscular Ctr, Hammersmith Hosp, London W12 OHN, England
Muntoni, F
Merlini, L
论文数:
0
引用数:
0
h-index:
0
机构:
Univ London Imperial Coll Sci Technol & Med, Dept Paediat, Dubowitz Neuromuscular Ctr, Hammersmith Hosp, London W12 OHN, England
Merlini, L
[J].
NEUROMUSCULAR DISORDERS,
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[6]
Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36
Moghadaszadeh, B
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, UR153, F-75651 Paris 13, France
Moghadaszadeh, B
Desguerre, I
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, UR153, F-75651 Paris 13, France
Desguerre, I
Topaloglu, H
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, UR153, F-75651 Paris 13, France
Topaloglu, H
Muntoni, FN
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, UR153, F-75651 Paris 13, France
Muntoni, FN
Pavek, S
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, UR153, F-75651 Paris 13, France
Pavek, S
Sewry, C
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, UR153, F-75651 Paris 13, France
Sewry, C
Mayer, M
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, UR153, F-75651 Paris 13, France
Mayer, M
Fardeau, M
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, UR153, F-75651 Paris 13, France
Fardeau, M
Tomé, FMS
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, UR153, F-75651 Paris 13, France
Tomé, FMS
Guicheney, P
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, UR153, F-75651 Paris 13, France
Guicheney, P
[J].
AMERICAN JOURNAL OF HUMAN GENETICS,
1998,
62
(06)
: 1439
-
1445
[7]
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome
Moghadaszadeh, B
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U523, F-75651 Paris 13, France
Moghadaszadeh, B
Petit, N
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U523, F-75651 Paris 13, France
Petit, N
Jaillard, C
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U523, F-75651 Paris 13, France
Jaillard, C
Brockington, M
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U523, F-75651 Paris 13, France
Brockington, M
Roy, SQ
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U523, F-75651 Paris 13, France
Roy, SQ
Merlini, L
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U523, F-75651 Paris 13, France
Merlini, L
Romero, N
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U523, F-75651 Paris 13, France
Romero, N
Estournet, B
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U523, F-75651 Paris 13, France
Estournet, B
Desguerre, I
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U523, F-75651 Paris 13, France
Desguerre, I
Chaigne, D
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U523, F-75651 Paris 13, France
Chaigne, D
Muntoni, F
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U523, F-75651 Paris 13, France
Muntoni, F
Topaloglu, H
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U523, F-75651 Paris 13, France
Topaloglu, H
Guicheney, P
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U523, F-75651 Paris 13, France
Guicheney, P
[J].
NATURE GENETICS,
2001,
29
(01)
: 17
-
18
[8]
Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern
Petit, N
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U582, F-75651 Paris 13, France
Petit, N
Lescure, A
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U582, F-75651 Paris 13, France
Lescure, A
Rederstorff, M
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U582, F-75651 Paris 13, France
Rederstorff, M
Krol, A
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U582, F-75651 Paris 13, France
Krol, A
Moghadaszadeh, B
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U582, F-75651 Paris 13, France
Moghadaszadeh, B
Wewer, UM
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U582, F-75651 Paris 13, France
Wewer, UM
Guicheney, P
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, Inst Myol, INSERM, U582, F-75651 Paris 13, France
Guicheney, P
[J].
HUMAN MOLECULAR GENETICS,
2003,
12
(09)
: 1045
-
1053
←
1
→
共 8 条
[1]
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease:: Reassessing the nosology of early-onset myopathies
Ferreiro, A
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Ferreiro, A
Quijano-Roy, S
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Quijano-Roy, S
Pichereau, C
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Pichereau, C
Moghadaszadeh, B
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Moghadaszadeh, B
Goemans, N
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Goemans, N
Bönnemann, C
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Bönnemann, C
Jungbluth, H
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Jungbluth, H
Straub, V
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Straub, V
Villanova, M
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Villanova, M
Leroy, JP
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Leroy, JP
Romero, NB
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Romero, NB
Martin, JJ
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Martin, JJ
Muntoni, F
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Muntoni, F
Voit, T
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Voit, T
Estournet, B
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Estournet, B
Richard, P
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Richard, P
Fardeau, M
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Fardeau, M
Guicheney, P
论文数:
0
引用数:
0
h-index:
0
机构:
Grp Hosp Pitie Salpetriere, INSERM, U523, Inst Mycol,Inst Federatif Rech 14, F-75651 Paris, France
Guicheney, P
[J].
AMERICAN JOURNAL OF HUMAN GENETICS,
2002,
71
(04)
: 739
-
749
[2]
Flanigan KM, 2000, ANN NEUROL, V47, P152, DOI 10.1002/1531-8249(200002)47:2<152::AID-ANA4>3.0.CO
[3]
2-U
[4]
Novel selenoproteins identified in silico and in vivo by using a conserved RNA structural motif
Lescure, A
论文数:
0
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