共 42 条
Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Cav2.1 causing episodic ataxia 2 -: art. no. e82
被引:33
作者:

Mantuano, E
论文数: 0 引用数: 0
h-index: 0
机构: CNR, INeMM, I-00044 Frascati, Italy

Veneziano, L
论文数: 0 引用数: 0
h-index: 0
机构: CNR, INeMM, I-00044 Frascati, Italy

Spadaro, M
论文数: 0 引用数: 0
h-index: 0
机构: CNR, INeMM, I-00044 Frascati, Italy

Giunti, P
论文数: 0 引用数: 0
h-index: 0
机构: CNR, INeMM, I-00044 Frascati, Italy

Guida, S
论文数: 0 引用数: 0
h-index: 0
机构: CNR, INeMM, I-00044 Frascati, Italy

Leggio, MG
论文数: 0 引用数: 0
h-index: 0
机构: CNR, INeMM, I-00044 Frascati, Italy

Verriello, L
论文数: 0 引用数: 0
h-index: 0
机构: CNR, INeMM, I-00044 Frascati, Italy

Wood, N
论文数: 0 引用数: 0
h-index: 0
机构: CNR, INeMM, I-00044 Frascati, Italy

Jodice, C
论文数: 0 引用数: 0
h-index: 0
机构: CNR, INeMM, I-00044 Frascati, Italy

Frontali, M
论文数: 0 引用数: 0
h-index: 0
机构: CNR, INeMM, I-00044 Frascati, Italy
机构:
[1] CNR, INeMM, I-00044 Frascati, Italy
[2] Univ Roma La Sapienza, Dept Neurol Sci, Rome, Italy
[3] Univ Roma La Sapienza, Dept Psychol, Rome, Italy
[4] IRCCS, Fdn Santa Lucia, Rome, Italy
[5] Tor Vergata Univ, Dept Biol, Rome, Italy
[6] Univ Udine, DPMSC, Neurol Clin, I-33100 Udine, Italy
[7] UCL, Inst Neurol, London, England
关键词:
D O I:
10.1136/jmg.2003.015396
中图分类号:
Q3 [遗传学];
学科分类号:
071007 ;
090102 ;
摘要:
[No abstract available]
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页数:6
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共 42 条
[1]
Voltage-gated ion channels and electrical excitability
[J].
Armstrong, CM
;
Hille, B
.
NEURON,
1998, 20 (03)
:371-380

Armstrong, CM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Washington, Dept Physiol & Biophys, Seattle, WA 98195 USA

Hille, B
论文数: 0 引用数: 0
h-index: 0
机构:
Univ Washington, Dept Physiol & Biophys, Seattle, WA 98195 USA Univ Washington, Dept Physiol & Biophys, Seattle, WA 98195 USA
[2]
A new CACNA1A gene mutation in acetazolamide-responsive familial hemiplegic migraine and ataxia
[J].
Battistini, S
;
Stenirri, S
;
Piatti, M
;
Gelfi, C
;
Righetti, PG
;
Rocchi, R
;
Giannini, F
;
Battistini, N
;
Guazzi, GC
;
Ferrari, M
;
Carrera, P
.
NEUROLOGY,
1999, 53 (01)
:38-43

Battistini, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Siena, Inst Neurol Sci, I-53100 Siena, Italy

Stenirri, S
论文数: 0 引用数: 0
h-index: 0
机构: Univ Siena, Inst Neurol Sci, I-53100 Siena, Italy

Piatti, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Siena, Inst Neurol Sci, I-53100 Siena, Italy

Gelfi, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Siena, Inst Neurol Sci, I-53100 Siena, Italy

Righetti, PG
论文数: 0 引用数: 0
h-index: 0
机构: Univ Siena, Inst Neurol Sci, I-53100 Siena, Italy

Rocchi, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ Siena, Inst Neurol Sci, I-53100 Siena, Italy

Giannini, F
论文数: 0 引用数: 0
h-index: 0
机构: Univ Siena, Inst Neurol Sci, I-53100 Siena, Italy

Battistini, N
论文数: 0 引用数: 0
h-index: 0
机构: Univ Siena, Inst Neurol Sci, I-53100 Siena, Italy

Guazzi, GC
论文数: 0 引用数: 0
h-index: 0
机构: Univ Siena, Inst Neurol Sci, I-53100 Siena, Italy

Ferrari, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Siena, Inst Neurol Sci, I-53100 Siena, Italy

Carrera, P
论文数: 0 引用数: 0
h-index: 0
机构: Univ Siena, Inst Neurol Sci, I-53100 Siena, Italy
[3]
Thyroid hormone negatively regulates the transcriptional activity of the β-amyloid precursor protein gene
[J].
Belandia, B
;
Latasa, MJ
;
Villa, A
;
Pascual, A
.
JOURNAL OF BIOLOGICAL CHEMISTRY,
1998, 273 (46)
:30366-30371

Belandia, B
论文数: 0 引用数: 0
h-index: 0
机构:
CSIC, Inst Invest Biomed, Madrid 28029, Spain CSIC, Inst Invest Biomed, Madrid 28029, Spain

Latasa, MJ
论文数: 0 引用数: 0
h-index: 0
机构:
CSIC, Inst Invest Biomed, Madrid 28029, Spain CSIC, Inst Invest Biomed, Madrid 28029, Spain

Villa, A
论文数: 0 引用数: 0
h-index: 0
机构:
CSIC, Inst Invest Biomed, Madrid 28029, Spain CSIC, Inst Invest Biomed, Madrid 28029, Spain

Pascual, A
论文数: 0 引用数: 0
h-index: 0
机构:
CSIC, Inst Invest Biomed, Madrid 28029, Spain CSIC, Inst Invest Biomed, Madrid 28029, Spain
[4]
Genetic heterogeneity in Italian families with familial hemiplegic migraine
[J].
Carrera, P
;
Piatti, M
;
Stenirri, S
;
Grimaldi, LME
;
Marchioni, E
;
Curcio, M
;
Righetti, PG
;
Ferrari, M
;
Gelfi, C
.
NEUROLOGY,
1999, 53 (01)
:26-33

Carrera, P
论文数: 0 引用数: 0
h-index: 0
机构: Hosp San Raffaele, IRCCS, Lab Biol Mol Clin, I-20132 Milan, Italy

Piatti, M
论文数: 0 引用数: 0
h-index: 0
机构: Hosp San Raffaele, IRCCS, Lab Biol Mol Clin, I-20132 Milan, Italy

Stenirri, S
论文数: 0 引用数: 0
h-index: 0
机构: Hosp San Raffaele, IRCCS, Lab Biol Mol Clin, I-20132 Milan, Italy

Grimaldi, LME
论文数: 0 引用数: 0
h-index: 0
机构: Hosp San Raffaele, IRCCS, Lab Biol Mol Clin, I-20132 Milan, Italy

论文数: 引用数:
h-index:
机构:

Curcio, M
论文数: 0 引用数: 0
h-index: 0
机构: Hosp San Raffaele, IRCCS, Lab Biol Mol Clin, I-20132 Milan, Italy

Righetti, PG
论文数: 0 引用数: 0
h-index: 0
机构: Hosp San Raffaele, IRCCS, Lab Biol Mol Clin, I-20132 Milan, Italy

Ferrari, M
论文数: 0 引用数: 0
h-index: 0
机构: Hosp San Raffaele, IRCCS, Lab Biol Mol Clin, I-20132 Milan, Italy

Gelfi, C
论文数: 0 引用数: 0
h-index: 0
机构: Hosp San Raffaele, IRCCS, Lab Biol Mol Clin, I-20132 Milan, Italy
[5]
Missense CACNA1A mutation causing episodic ataxia type 2
[J].
Denier, C
;
Ducros, A
;
Durr, A
;
Eymard, B
;
Chassande, B
;
Tournier-Lasserve, E
.
ARCHIVES OF NEUROLOGY,
2001, 58 (02)
:292-295

Denier, C
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Lariboisiere, INSERM, F-75010 Paris, France

Ducros, A
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Lariboisiere, INSERM, F-75010 Paris, France

Durr, A
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Lariboisiere, INSERM, F-75010 Paris, France

Eymard, B
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Lariboisiere, INSERM, F-75010 Paris, France

Chassande, B
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Lariboisiere, INSERM, F-75010 Paris, France

Tournier-Lasserve, E
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Lariboisiere, INSERM, F-75010 Paris, France
[6]
High prevalence of CACNA1A truncations and broader clinical spectrum in episodic ataxia type 2
[J].
Denier, C
;
Ducros, A
;
Vahedi, K
;
Joutel, A
;
Thierry, P
;
Ritz, A
;
Castelnovo, G
;
Deonna, T
;
Gérard, P
;
Devoize, JL
;
Gayou, A
;
Perrouty, B
;
Soisson, T
;
Autret, A
;
Warter, JM
;
Vighetto, A
;
Van Bogaert, P
;
Alamowitch, S
;
Roullet, E
;
Tournier-Lasserve, E
.
NEUROLOGY,
1999, 52 (09)
:1816-1821

Denier, C
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker Enfants Malad, INSERM, U25, F-75730 Paris 15, France

Ducros, A
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker Enfants Malad, INSERM, U25, F-75730 Paris 15, France

Vahedi, K
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker Enfants Malad, INSERM, U25, F-75730 Paris 15, France

Joutel, A
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker Enfants Malad, INSERM, U25, F-75730 Paris 15, France

Thierry, P
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker Enfants Malad, INSERM, U25, F-75730 Paris 15, France

Ritz, A
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker Enfants Malad, INSERM, U25, F-75730 Paris 15, France

Castelnovo, G
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker Enfants Malad, INSERM, U25, F-75730 Paris 15, France

Deonna, T
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker Enfants Malad, INSERM, U25, F-75730 Paris 15, France

Gérard, P
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker Enfants Malad, INSERM, U25, F-75730 Paris 15, France

Devoize, JL
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker Enfants Malad, INSERM, U25, F-75730 Paris 15, France

Gayou, A
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker Enfants Malad, INSERM, U25, F-75730 Paris 15, France

Perrouty, B
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker Enfants Malad, INSERM, U25, F-75730 Paris 15, France

Soisson, T
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker Enfants Malad, INSERM, U25, F-75730 Paris 15, France

Autret, A
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker Enfants Malad, INSERM, U25, F-75730 Paris 15, France

Warter, JM
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker Enfants Malad, INSERM, U25, F-75730 Paris 15, France

Vighetto, A
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker Enfants Malad, INSERM, U25, F-75730 Paris 15, France

Van Bogaert, P
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker Enfants Malad, INSERM, U25, F-75730 Paris 15, France

Alamowitch, S
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker Enfants Malad, INSERM, U25, F-75730 Paris 15, France

Roullet, E
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker Enfants Malad, INSERM, U25, F-75730 Paris 15, France

Tournier-Lasserve, E
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker Enfants Malad, INSERM, U25, F-75730 Paris 15, France
[7]
Recurrence of the T666M calcium channel CACNA1A gene mutation in familial hemiplegic migraine with progressive cerebellar ataxia
[J].
Ducros, A
;
Denier, C
;
Joutel, A
;
Vahedi, K
;
Michel, A
;
Darcel, F
;
Madigand, M
;
Guerouaou, D
;
Tison, F
;
Julien, J
;
Hirsch, E
;
Chedru, F
;
Bisgård, C
;
Lucotte, G
;
Després, P
;
Billard, C
;
Barthez, MA
;
Ponsot, G
;
Bousser, MG
;
Tournier-Lasserve, E
.
AMERICAN JOURNAL OF HUMAN GENETICS,
1999, 64 (01)
:89-98

Ducros, A
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker, INSERM U25, F-75730 Paris 15, France

Denier, C
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker, INSERM U25, F-75730 Paris 15, France

Joutel, A
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker, INSERM U25, F-75730 Paris 15, France

Vahedi, K
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker, INSERM U25, F-75730 Paris 15, France

Michel, A
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker, INSERM U25, F-75730 Paris 15, France

Darcel, F
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker, INSERM U25, F-75730 Paris 15, France

Madigand, M
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker, INSERM U25, F-75730 Paris 15, France

Guerouaou, D
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker, INSERM U25, F-75730 Paris 15, France

Tison, F
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker, INSERM U25, F-75730 Paris 15, France

Julien, J
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker, INSERM U25, F-75730 Paris 15, France

Hirsch, E
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker, INSERM U25, F-75730 Paris 15, France

Chedru, F
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker, INSERM U25, F-75730 Paris 15, France

Bisgård, C
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker, INSERM U25, F-75730 Paris 15, France

Lucotte, G
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker, INSERM U25, F-75730 Paris 15, France

Després, P
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker, INSERM U25, F-75730 Paris 15, France

Billard, C
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker, INSERM U25, F-75730 Paris 15, France

Barthez, MA
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker, INSERM U25, F-75730 Paris 15, France

Ponsot, G
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker, INSERM U25, F-75730 Paris 15, France

Bousser, MG
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker, INSERM U25, F-75730 Paris 15, France

Tournier-Lasserve, E
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Necker, INSERM U25, F-75730 Paris 15, France
[8]
The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel.
[J].
Ducros, A
;
Denier, C
;
Joutel, A
;
Cecillon, M
;
Lescoat, C
;
Vahedi, K
;
Darcel, F
;
Vicaut, E
;
Bousser, M
;
Tournier-Lasserve, E
.
NEW ENGLAND JOURNAL OF MEDICINE,
2001, 345 (01)
:17-U5

Ducros, A
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Lariboisiere, INSERM, E9921, Paris, France

Denier, C
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Lariboisiere, INSERM, E9921, Paris, France

Joutel, A
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Lariboisiere, INSERM, E9921, Paris, France

Cecillon, M
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Lariboisiere, INSERM, E9921, Paris, France

Lescoat, C
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Lariboisiere, INSERM, E9921, Paris, France

Vahedi, K
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Lariboisiere, INSERM, E9921, Paris, France

Darcel, F
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Lariboisiere, INSERM, E9921, Paris, France

Vicaut, E
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Lariboisiere, INSERM, E9921, Paris, France

Bousser, M
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Lariboisiere, INSERM, E9921, Paris, France

Tournier-Lasserve, E
论文数: 0 引用数: 0
h-index: 0
机构: Fac Med Lariboisiere, INSERM, E9921, Paris, France
[9]
Coding and noncoding variation of the human calcium-channel β4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia
[J].
Escayg, A
;
De Waard, M
;
Lee, DD
;
Bichet, D
;
Wolf, P
;
Mayer, T
;
Johnston, J
;
Baloh, R
;
Sander, T
;
Meisler, MH
.
AMERICAN JOURNAL OF HUMAN GENETICS,
2000, 66 (05)
:1531-1539

Escayg, A
论文数: 0 引用数: 0
h-index: 0
机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA

De Waard, M
论文数: 0 引用数: 0
h-index: 0
机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA

Lee, DD
论文数: 0 引用数: 0
h-index: 0
机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA

Bichet, D
论文数: 0 引用数: 0
h-index: 0
机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA

Wolf, P
论文数: 0 引用数: 0
h-index: 0
机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA

Mayer, T
论文数: 0 引用数: 0
h-index: 0
机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA

Johnston, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA

Baloh, R
论文数: 0 引用数: 0
h-index: 0
机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA

Sander, T
论文数: 0 引用数: 0
h-index: 0
机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA

Meisler, MH
论文数: 0 引用数: 0
h-index: 0
机构: Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA
[10]
Amino acid residues outside of the pore region contribute to N-type calcium channel permeation
[J].
Feng, ZP
;
Hamid, J
;
Doering, C
;
Jarvis, SE
;
Bosey, GM
;
Bourinet, E
;
Snutch, TP
;
Zamponi, GW
.
JOURNAL OF BIOLOGICAL CHEMISTRY,
2001, 276 (08)
:5726-5730

Feng, ZP
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calgary, Dept Physiol & Biophys, Neurosci Res Grp, Calgary, AB T2N 4N1, Canada

Hamid, J
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calgary, Dept Physiol & Biophys, Neurosci Res Grp, Calgary, AB T2N 4N1, Canada

Doering, C
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calgary, Dept Physiol & Biophys, Neurosci Res Grp, Calgary, AB T2N 4N1, Canada

Jarvis, SE
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calgary, Dept Physiol & Biophys, Neurosci Res Grp, Calgary, AB T2N 4N1, Canada

Bosey, GM
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calgary, Dept Physiol & Biophys, Neurosci Res Grp, Calgary, AB T2N 4N1, Canada

Bourinet, E
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calgary, Dept Physiol & Biophys, Neurosci Res Grp, Calgary, AB T2N 4N1, Canada

Snutch, TP
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calgary, Dept Physiol & Biophys, Neurosci Res Grp, Calgary, AB T2N 4N1, Canada

Zamponi, GW
论文数: 0 引用数: 0
h-index: 0
机构: Univ Calgary, Dept Physiol & Biophys, Neurosci Res Grp, Calgary, AB T2N 4N1, Canada