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Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene
被引:31
作者
:
D'Amico, A
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Inst Neurol, Dept Neurosci, I-00168 Rome, Italy
D'Amico, A
Tessa, A
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Inst Neurol, Dept Neurosci, I-00168 Rome, Italy
Tessa, A
Sabino, A
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Inst Neurol, Dept Neurosci, I-00168 Rome, Italy
Sabino, A
Bertini, E
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Inst Neurol, Dept Neurosci, I-00168 Rome, Italy
Bertini, E
Santorelli, FM
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Inst Neurol, Dept Neurosci, I-00168 Rome, Italy
Santorelli, FM
Servidei, S
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Cattolica Sacro Cuore, Inst Neurol, Dept Neurosci, I-00168 Rome, Italy
Servidei, S
机构
:
[1]
Univ Cattolica Sacro Cuore, Inst Neurol, Dept Neurosci, I-00168 Rome, Italy
[2]
IRCCS Bambino Gesu, Rome, Italy
来源
:
NEUROLOGY
|
2004年
/ 62卷
/ 11期
关键词
:
D O I
:
10.1212/01.WNL.0000127698.88895.85
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:2138 / 2139
页数:3
相关论文
共 7 条
[1]
The hereditary spastic paraplegias - Nine genes and counting
[J].
Fink, JK
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0
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0
h-index:
0
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Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA
Fink, JK
.
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2003,
60
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[2]
Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia
[J].
Muglia, M
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0
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0
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CNR, Inst Neurol Sci, Cosenza, Italy
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;
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;
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;
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CNR, Inst Neurol Sci, Cosenza, Italy
Quattrone, A
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ANNALS OF NEUROLOGY,
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51
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A functional link between dynamin and the actin cytoskeleton at podosomes
[J].
Ochoa, GC
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Yale Univ, Sch Med, Dept Cell Biol, New Haven, CT 06510 USA
Ochoa, GC
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;
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Yale Univ, Sch Med, Dept Cell Biol, New Haven, CT 06510 USA
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Yale Univ, Sch Med, Dept Cell Biol, New Haven, CT 06510 USA
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Yale Univ, Sch Med, Dept Cell Biol, New Haven, CT 06510 USA
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Yale Univ, Sch Med, Dept Cell Biol, New Haven, CT 06510 USA
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[4]
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[5]
An additional family carrying a new atlastin mutation
[J].
Tessa, A
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Casali, C
;
Damiano, M
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0
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0
h-index:
0
机构:
IRCCS, Bambino Gesu Hosp, I-00165 Rome, Italy
Damiano, M
;
Bruno, C
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IRCCS, Bambino Gesu Hosp, I-00165 Rome, Italy
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SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia
[J].
Wilkinson, PA
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St George Hosp, Sch Med, Dept Med Genet, London SW17 0RE, England
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St George Hosp, Sch Med, Dept Med Genet, London SW17 0RE, England
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Crosby, AH
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Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia
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Zhao, XP
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Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA
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(03)
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←
1
→
共 7 条
[1]
The hereditary spastic paraplegias - Nine genes and counting
[J].
Fink, JK
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA
Fink, JK
.
ARCHIVES OF NEUROLOGY,
2003,
60
(08)
:1045
-1049
[2]
Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia
[J].
Muglia, M
论文数:
0
引用数:
0
h-index:
0
机构:
CNR, Inst Neurol Sci, Cosenza, Italy
Muglia, M
;
Magariello, A
论文数:
0
引用数:
0
h-index:
0
机构:
CNR, Inst Neurol Sci, Cosenza, Italy
Magariello, A
;
Nicoletti, G
论文数:
0
引用数:
0
h-index:
0
机构:
CNR, Inst Neurol Sci, Cosenza, Italy
Nicoletti, G
;
Patitucci, A
论文数:
0
引用数:
0
h-index:
0
机构:
CNR, Inst Neurol Sci, Cosenza, Italy
Patitucci, A
;
Gabriele, AL
论文数:
0
引用数:
0
h-index:
0
机构:
CNR, Inst Neurol Sci, Cosenza, Italy
Gabriele, AL
;
Conforti, FL
论文数:
0
引用数:
0
h-index:
0
机构:
CNR, Inst Neurol Sci, Cosenza, Italy
Conforti, FL
;
Mazzei, R
论文数:
0
引用数:
0
h-index:
0
机构:
CNR, Inst Neurol Sci, Cosenza, Italy
Mazzei, R
;
Caracciolo, M
论文数:
0
引用数:
0
h-index:
0
机构:
CNR, Inst Neurol Sci, Cosenza, Italy
Caracciolo, M
;
Ardito, B
论文数:
0
引用数:
0
h-index:
0
机构:
CNR, Inst Neurol Sci, Cosenza, Italy
Ardito, B
;
Lastilla, M
论文数:
0
引用数:
0
h-index:
0
机构:
CNR, Inst Neurol Sci, Cosenza, Italy
Lastilla, M
;
Tedeschi, G
论文数:
0
引用数:
0
h-index:
0
机构:
CNR, Inst Neurol Sci, Cosenza, Italy
Tedeschi, G
;
Quattrone, A
论文数:
0
引用数:
0
h-index:
0
机构:
CNR, Inst Neurol Sci, Cosenza, Italy
Quattrone, A
.
ANNALS OF NEUROLOGY,
2002,
51
(06)
:794
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[3]
A functional link between dynamin and the actin cytoskeleton at podosomes
[J].
Ochoa, GC
论文数:
0
引用数:
0
h-index:
0
机构:
Yale Univ, Sch Med, Dept Cell Biol, New Haven, CT 06510 USA
Ochoa, GC
;
Slepnev, VI
论文数:
0
引用数:
0
h-index:
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机构:
Yale Univ, Sch Med, Dept Cell Biol, New Haven, CT 06510 USA
Slepnev, VI
;
Neff, L
论文数:
0
引用数:
0
h-index:
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机构:
Yale Univ, Sch Med, Dept Cell Biol, New Haven, CT 06510 USA
Neff, L
;
Ringstad, N
论文数:
0
引用数:
0
h-index:
0
机构:
Yale Univ, Sch Med, Dept Cell Biol, New Haven, CT 06510 USA
Ringstad, N
;
Takei, K
论文数:
0
引用数:
0
h-index:
0
机构:
Yale Univ, Sch Med, Dept Cell Biol, New Haven, CT 06510 USA
Takei, K
;
Daniell, L
论文数:
0
引用数:
0
h-index:
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机构:
Yale Univ, Sch Med, Dept Cell Biol, New Haven, CT 06510 USA
Daniell, L
;
Kim, W
论文数:
0
引用数:
0
h-index:
0
机构:
Yale Univ, Sch Med, Dept Cell Biol, New Haven, CT 06510 USA
Kim, W
;
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论文数:
0
引用数:
0
h-index:
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Yale Univ, Sch Med, Dept Cell Biol, New Haven, CT 06510 USA
Cao, H
;
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论文数:
0
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0
h-index:
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Yale Univ, Sch Med, Dept Cell Biol, New Haven, CT 06510 USA
McNiven, M
;
Baron, R
论文数:
0
引用数:
0
h-index:
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机构:
Yale Univ, Sch Med, Dept Cell Biol, New Haven, CT 06510 USA
Baron, R
;
De Camilli, P
论文数:
0
引用数:
0
h-index:
0
机构:
Yale Univ, Sch Med, Dept Cell Biol, New Haven, CT 06510 USA
De Camilli, P
.
JOURNAL OF CELL BIOLOGY,
2000,
150
(02)
:377
-389
[4]
Sauter S M, 2004, Hum Mutat, V23, P98, DOI 10.1002/humu.9205
[5]
An additional family carrying a new atlastin mutation
[J].
Tessa, A
论文数:
0
引用数:
0
h-index:
0
机构:
IRCCS, Bambino Gesu Hosp, I-00165 Rome, Italy
Tessa, A
;
Casali, C
论文数:
0
引用数:
0
h-index:
0
机构:
IRCCS, Bambino Gesu Hosp, I-00165 Rome, Italy
Casali, C
;
Damiano, M
论文数:
0
引用数:
0
h-index:
0
机构:
IRCCS, Bambino Gesu Hosp, I-00165 Rome, Italy
Damiano, M
;
Bruno, C
论文数:
0
引用数:
0
h-index:
0
机构:
IRCCS, Bambino Gesu Hosp, I-00165 Rome, Italy
Bruno, C
;
Fortini, D
论文数:
0
引用数:
0
h-index:
0
机构:
IRCCS, Bambino Gesu Hosp, I-00165 Rome, Italy
Fortini, D
;
Patrono, C
论文数:
0
引用数:
0
h-index:
0
机构:
IRCCS, Bambino Gesu Hosp, I-00165 Rome, Italy
Patrono, C
;
Cricchi, F
论文数:
0
引用数:
0
h-index:
0
机构:
IRCCS, Bambino Gesu Hosp, I-00165 Rome, Italy
Cricchi, F
;
Valoppi, M
论文数:
0
引用数:
0
h-index:
0
机构:
IRCCS, Bambino Gesu Hosp, I-00165 Rome, Italy
Valoppi, M
;
Nappi, G
论文数:
0
引用数:
0
h-index:
0
机构:
IRCCS, Bambino Gesu Hosp, I-00165 Rome, Italy
Nappi, G
;
Amabile, GA
论文数:
0
引用数:
0
h-index:
0
机构:
IRCCS, Bambino Gesu Hosp, I-00165 Rome, Italy
Amabile, GA
;
Bertini, E
论文数:
0
引用数:
0
h-index:
0
机构:
IRCCS, Bambino Gesu Hosp, I-00165 Rome, Italy
Bertini, E
;
Santorelli, FM
论文数:
0
引用数:
0
h-index:
0
机构:
IRCCS, Bambino Gesu Hosp, I-00165 Rome, Italy
Santorelli, FM
.
NEUROLOGY,
2002,
59
(12)
:2002
-2005
[6]
SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia
[J].
Wilkinson, PA
论文数:
0
引用数:
0
h-index:
0
机构:
St George Hosp, Sch Med, Dept Med Genet, London SW17 0RE, England
Wilkinson, PA
;
Hart, PE
论文数:
0
引用数:
0
h-index:
0
机构:
St George Hosp, Sch Med, Dept Med Genet, London SW17 0RE, England
Hart, PE
;
Patel, H
论文数:
0
引用数:
0
h-index:
0
机构:
St George Hosp, Sch Med, Dept Med Genet, London SW17 0RE, England
Patel, H
;
Warner, TT
论文数:
0
引用数:
0
h-index:
0
机构:
St George Hosp, Sch Med, Dept Med Genet, London SW17 0RE, England
Warner, TT
;
Crosby, AH
论文数:
0
引用数:
0
h-index:
0
机构:
St George Hosp, Sch Med, Dept Med Genet, London SW17 0RE, England
Crosby, AH
.
JOURNAL OF THE NEUROLOGICAL SCIENCES,
2003,
216
(01)
:43
-45
[7]
Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia
[J].
Zhao, XP
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA
Zhao, XP
;
Alvarado, D
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA
Alvarado, D
;
Rainier, S
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA
Rainier, S
;
Lemons, R
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA
Lemons, R
;
论文数:
引用数:
h-index:
机构:
Hedera, P
;
Weber, CH
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA
Weber, CH
;
Tukel, T
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA
Tukel, T
;
Apak, M
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA
Apak, M
;
Heiman-Patterson, T
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA
Heiman-Patterson, T
;
Ming, L
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA
Ming, L
;
Bui, M
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA
Bui, M
;
Fink, JK
论文数:
0
引用数:
0
h-index:
0
机构:
Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA
Univ Michigan, Dept Neurol, Ann Arbor, MI 48109 USA
Fink, JK
.
NATURE GENETICS,
2001,
29
(03)
:326
-331
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