-
1
-
-
27844556968
-
2+ channel alpha1A subunit and SNAP-25 in round or neurite-emitting chromaffin cells
-
2+ channel alpha1A subunit and SNAP-25 in round or neurite-emitting chromaffin cells. Eur J Neurosci 22:2187-2198.
-
(2005)
Eur J Neurosci
, vol.22
, pp. 2187-2198
-
-
Andres-Mateos, E.1
Renart, J.2
Cruces, J.3
Solis-Garrido, L.M.4
Serantes, R.5
de Lucas-Cerrillo, A.M.6
Aldea, M.7
Garcia, A.G.8
Montiel, C.9
-
2
-
-
21244500617
-
Gating deficiency in a familial hemiplegic migraine type 1 mutant P/Q-type calcium channel
-
Barrett CF, Cao YQ, Tsien RW. 2005. Gating deficiency in a familial hemiplegic migraine type 1 mutant P/Q-type calcium channel. J Biol Chem 280:24064-24071.
-
(2005)
J Biol Chem
, vol.280
, pp. 24064-24071
-
-
Barrett, C.F.1
Cao, Y.Q.2
Tsien, R.W.3
-
3
-
-
38849179055
-
Functional alterations in the α2 isoform of the Na,K-ATPase associated with familial hemiplegic migraine type 2. Invited paper
-
Blostein R, Segall L, Scanzano R, Mezzetti A, Purisima E, Gargus JJ. 2005. Functional alterations in the α2 isoform of the Na,K-ATPase associated with familial hemiplegic migraine type 2. Invited paper. J Gen Physiol 126:5a-6a.
-
(2005)
J Gen Physiol
, vol.126
-
-
Blostein, R.1
Segall, L.2
Scanzano, R.3
Mezzetti, A.4
Purisima, E.5
Gargus, J.J.6
-
4
-
-
33746223256
-
ATP1A2: Un facteur essentiel dans la migraine hémiplégique familiale.
-
Blostein R, Segal L, Gargus JJ. 2006. ATP1A2: un facteur essentiel dans la migraine hémiplégique familiale. Med Sci (Paris) 22:341-343.
-
(2006)
Med Sci (Paris)
, vol.22
, pp. 341-343
-
-
Blostein, R.1
Segal, L.2
Gargus, J.J.3
-
5
-
-
2442464954
-
Molecular genetics of hereditary spinocerebellar ataxia: Mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families
-
Brusco A, Gellera C, Cagnoli C, Saluto A, Castucci A, Michielotto C, Fetoni V, Mariotti C, Migone N, Di Donato S, Taroni F. 2004. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Arch Neurol 61:727-733.
-
(2004)
Arch Neurol
, vol.61
, pp. 727-733
-
-
Brusco, A.1
Gellera, C.2
Cagnoli, C.3
Saluto, A.4
Castucci, A.5
Michielotto, C.6
Fetoni, V.7
Mariotti, C.8
Migone, N.9
Di Donato, S.10
Taroni, F.11
-
7
-
-
14044271569
-
2+ channel activity and inhibitory synaptic transmission
-
2+ channel activity and inhibitory synaptic transmission. Proc Natl Acad Sci USA 102:2590-2595.
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 2590-2595
-
-
Cao, Y.Q.1
Tsien, R.W.2
-
9
-
-
2642583283
-
Mapping complex disease loci in whole-genome association studies
-
Carlson CS, Eberle MA, Kruglyak L, Nickerson DA. 2004. Mapping complex disease loci in whole-genome association studies. Nature 429:446-452.
-
(2004)
Nature
, vol.429
, pp. 446-452
-
-
Carlson, C.S.1
Eberle, M.A.2
Kruglyak, L.3
Nickerson, D.A.4
-
10
-
-
1842850796
-
Clinical correlations of mutations in the SCN1A gene: From febrile seizures to severe myoclonic epilepsy in infancy
-
Ceulemans BP, Claes LR, Lagae LG. 2004. Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. Pediatr Neurol 30:236-243.
-
(2004)
Pediatr Neurol
, vol.30
, pp. 236-243
-
-
Ceulemans, B.P.1
Claes, L.R.2
Lagae, L.G.3
-
11
-
-
0029610632
-
Mutations in the Na,K-ATPase alpha-subunit gene, eat-6, disrupt excitable cell function
-
Davis MW, Somerville D, Lee RY, Lockery S, Avery L, Fambrough DM. 1995. Mutations in the Na,K-ATPase alpha-subunit gene, eat-6, disrupt excitable cell function. J Neurosci 15:8408-8418.
-
(1995)
J Neurosci
, vol.15
, pp. 8408-8418
-
-
Davis, M.W.1
Somerville, D.2
Lee, R.Y.3
Lockery, S.4
Avery, L.5
Fambrough, D.M.6
-
12
-
-
3242700773
-
+-ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism
-
+-ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism. Neuron 43:169-175.
-
(2004)
Neuron
, vol.43
, pp. 169-175
-
-
De Carvalho Aguiar, P.1
Sweadner, K.J.2
Penniston, J.T.3
Zaremba, J.4
Liu, L.5
Caton, M.6
Linazasoro, G.7
Borg, M.8
Tijssen, M.A.9
Bressman, S.B.10
Dobyns, W.B.11
Brashear, A.12
Ozelius, L.J.13
-
13
-
-
0037312922
-
+ pump alpha2 subunit associated with familial hemiplegic migraine type 2
-
+ pump alpha2 subunit associated with familial hemiplegic migraine type 2. Nat Genet 33:192-196.
-
(2003)
Nat Genet
, vol.33
, pp. 192-196
-
-
De Fusco, M.1
Marconi, R.2
Silvestri, L.3
Atorino, L.4
Rampoldi, L.5
Morgante, L.6
Ballabio, A.7
Aridon, P.8
Casari, G.9
-
14
-
-
17444408824
-
Serotonin (5HT), fluoxetine, imipramine and dopamine target distinct 5HT receptor signaling to modulate Caenorhabditis elegans egg-laying behavior
-
Dempsey CM, Mackenzie SM, Gargus A, Blanco G, Sze JY. 2005. Serotonin (5HT), fluoxetine, imipramine and dopamine target distinct 5HT receptor signaling to modulate Caenorhabditis elegans egg-laying behavior. Genetics 169:1425-14236.
-
(2005)
Genetics
, vol.169
, pp. 1425-14236
-
-
Dempsey, C.M.1
Mackenzie, S.M.2
Gargus, A.3
Blanco, G.4
Sze, J.Y.5
-
15
-
-
23044459961
-
Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine
-
Dichgans M, Freilinger T, Eckstein G, Babini E, Lorenz-Depiereux B, Biskup S, Ferrari MD, Herzog J, van den Maagdenberg AM, Pusch M, Strom TM. 2005. Mutation in the neuronal voltage-gated sodium channel SCN1A in familial hemiplegic migraine. Lancet 366:371-377.
-
(2005)
Lancet
, vol.366
, pp. 371-377
-
-
Dichgans, M.1
Freilinger, T.2
Eckstein, G.3
Babini, E.4
Lorenz-Depiereux, B.5
Biskup, S.6
Ferrari, M.D.7
Herzog, J.8
van den Maagdenberg, A.M.9
Pusch, M.10
Strom, T.M.11
-
16
-
-
0033910736
-
4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia
-
4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet 66:1531-1539.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 1531-1539
-
-
Escayg, A.1
De Waard, M.2
Lee, D.D.3
Bichet, D.4
Wolf, P.5
Mayer, T.6
Johnston, J.7
Baloh, R.8
Sander, T.9
Meisler, M.H.10
-
17
-
-
0034069651
-
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
-
Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C, Malafosse A. 2000b. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet 24:343-345.
-
(2000)
Nat Genet
, vol.24
, pp. 343-345
-
-
Escayg, A.1
MacDonald, B.T.2
Meisler, M.H.3
Baulac, S.4
Huberfeld, G.5
An-Gourfinkel, I.6
Brice, A.7
LeGuern, E.8
Moulard, B.9
Chaigne, D.10
Buresi, C.11
Malafosse, A.12
-
18
-
-
0037385331
-
Unraveling monogenic channelopathies and their implications for complex polygenic disease
-
Gargus JJ. 2003. Unraveling monogenic channelopathies and their implications for complex polygenic disease. Am J Hum Genet72:785-803.
-
(2003)
Am J Hum Genet72
, pp. 785-803
-
-
Gargus, J.J.1
-
19
-
-
33745732006
-
Receptor, transporter and ion channel diseases
-
Meyers RA, editors, Weinheim: Wiley-VCH Verlag GmbH. p
-
Gargus JJ. 2005. Receptor, transporter and ion channel diseases. In: Meyers RA, editors. Encyclopedia of molecular cell biology and molecular medicine. Vol 11. Weinheim: Wiley-VCH Verlag GmbH. p 637-711.
-
(2005)
Encyclopedia of molecular cell biology and molecular medicine
, vol.11
, pp. 637-711
-
-
Gargus, J.J.1
-
20
-
-
33745698340
-
Ion channel functional candidate genes in multigenic neuropsychiatric disease
-
Gargus JJ. 2006. Ion channel functional candidate genes in multigenic neuropsychiatric disease. Biol Psychiatry 60:177-185.
-
(2006)
Biol Psychiatry
, vol.60
, pp. 177-185
-
-
Gargus, J.J.1
-
21
-
-
38849154727
-
Novel mutation confirms seizure locus SCN1A is also FHM3 migraine locus
-
in press
-
Gargus JJ, Tournay A. 2007. Novel mutation confirms seizure locus SCN1A is also FHM3 migraine locus. Pediatr Neurol (in press).
-
(2007)
Pediatr Neurol
-
-
Gargus, J.J.1
Tournay, A.2
-
23
-
-
1242291915
-
Na,K-ATPase alpha 2 inhibition alters calcium responses in optic nerve astrocytes
-
Hartford AK, Messer ML, Moseley AE, Lingrel JB, Delamere NA. 2004. Na,K-ATPase alpha 2 inhibition alters calcium responses in optic nerve astrocytes. Glia 45:229-237.
-
(2004)
Glia
, vol.45
, pp. 229-237
-
-
Hartford, A.K.1
Messer, M.L.2
Moseley, A.E.3
Lingrel, J.B.4
Delamere, N.A.5
-
24
-
-
34547618083
-
Drinking from the fire hose - statistical issues in genome wide association studies
-
Hunter DJ, Kraft P. 2007.Drinking from the fire hose - statistical issues in genome wide association studies. N Engl J Med 357:436-439.
-
(2007)
N Engl J Med
, vol.357
, pp. 436-439
-
-
Hunter, D.J.1
Kraft, P.2
-
25
-
-
9844263366
-
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene of chromosome 19p
-
Jodice C, Mantuano E, Veneziano L, Trettel F, Sabbadini G, Calandriello L, Francia A, Spadaro M, Pierelli F, Salvi F, Ophoff RA, Frants RR, Frontali M. 1997. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene of chromosome 19p. Hum Mol Genet 6:1973-1978.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1973-1978
-
-
Jodice, C.1
Mantuano, E.2
Veneziano, L.3
Trettel, F.4
Sabbadini, G.5
Calandriello, L.6
Francia, A.7
Spadaro, M.8
Pierelli, F.9
Salvi, F.10
Ophoff, R.A.11
Frants, R.R.12
Frontali, M.13
-
27
-
-
0038621773
-
Structure and mechanism of Na,K-ATPase: Functional sites and their interactions
-
Jorgensen PL, Hakansson KO, Karlish SJ. 2003. Structure and mechanism of Na,K-ATPase: functional sites and their interactions. Annu Rev Physiol 65:817-849.
-
(2003)
Annu Rev Physiol
, vol.65
, pp. 817-849
-
-
Jorgensen, P.L.1
Hakansson, K.O.2
Karlish, S.J.3
-
28
-
-
0031442209
-
+ pump alpha subunit isoforms in plasmalemma. Physiological implications
-
+ pump alpha subunit isoforms in plasmalemma. Physiological implications. Ann NY Acad Sci 834:524-536.
-
(1997)
Ann NY Acad Sci
, vol.834
, pp. 524-536
-
-
Juhaszova, M.1
Blaustein, M.2
-
29
-
-
24044458609
-
Gene dosage-dependent transmitter release changes at neuromuscular synapses of CACNA1A R192Q knockin mice are non-progressive and do not lead to morphological changes or muscle weakness
-
Kaja S, van de Ven RC, Broos LA, Veldman H, van Dijk JG, Verschuuren JJ, Frants RR, Ferrari MD, van den Maagdenberg AM, Plomp JJ. 2005. Gene dosage-dependent transmitter release changes at neuromuscular synapses of CACNA1A R192Q knockin mice are non-progressive and do not lead to morphological changes or muscle weakness. Neuroscience 135:81-95.
-
(2005)
Neuroscience
, vol.135
, pp. 81-95
-
-
Kaja, S.1
van de Ven, R.C.2
Broos, L.A.3
Veldman, H.4
van Dijk, J.G.5
Verschuuren, J.J.6
Frants, R.R.7
Ferrari, M.D.8
van den Maagdenberg, A.M.9
Plomp, J.J.10
-
30
-
-
33745223646
-
Finding function in novel targets: C. elegans as a model organism
-
Kaletta T, Hengartner MO. 2006. Finding function in novel targets: C. elegans as a model organism. Nat Rev Drug Discov 5:387-398.
-
(2006)
Nat Rev Drug Discov
, vol.5
, pp. 387-398
-
-
Kaletta, T.1
Hengartner, M.O.2
-
31
-
-
0035997378
-
Biochemistry of Na,K-ATPase
-
Kaplan JH. 2002. Biochemistry of Na,K-ATPase. Annu Rev Biochem 71:511-535.
-
(2002)
Annu Rev Biochem
, vol.71
, pp. 511-535
-
-
Kaplan, J.H.1
-
32
-
-
27644576869
-
The sodium pump and hypertension: A physiological role for the cardiac glycoside binding site of the Na,K-ATPase
-
Kaplan JH. 2005. The sodium pump and hypertension: a physiological role for the cardiac glycoside binding site of the Na,K-ATPase. Proc Natl Acad Sci USA 102:15723-157154.
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 15723-157154
-
-
Kaplan, J.H.1
-
33
-
-
3042582762
-
A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2
-
Kaunisto MA, Harno H, Vanmolkot KR, Gargus JJ, Sun G, Hamalainen E, Liukkonen E, Kallela M, van den Maagdenberg AM, Frants RR, Farkkila M, Palotie A, Wessman M. 2004. A novel missense ATP1A2 mutation in a Finnish family with familial hemiplegic migraine type 2. Neurogenetics 5:141-146.
-
(2004)
Neurogenetics
, vol.5
, pp. 141-146
-
-
Kaunisto, M.A.1
Harno, H.2
Vanmolkot, K.R.3
Gargus, J.J.4
Sun, G.5
Hamalainen, E.6
Liukkonen, E.7
Kallela, M.8
van den Maagdenberg, A.M.9
Frants, R.R.10
Farkkila, M.11
Palotie, A.12
Wessman, M.13
-
34
-
-
4644282550
-
Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation
-
Kors EE, Melberg A, Vanmolkot KR, Kumlien E, Haan J, Raininko R, Flink R, Ginjaar HB, Frants RR, Ferrari MD, and van den Maagdenberg AM. 2004. Childhood epilepsy, familial hemiplegic migraine, cerebellar ataxia, and a new CACNA1A mutation. Neurology 63:1136-1137.
-
(2004)
Neurology
, vol.63
, pp. 1136-1137
-
-
Kors, E.E.1
Melberg, A.2
Vanmolkot, K.R.3
Kumlien, E.4
Haan, J.5
Raininko, R.6
Flink, R.7
Ginjaar, H.B.8
Frants, R.R.9
Ferrari, M.D.10
van den Maagdenberg, A.M.11
-
35
-
-
1642453650
-
Plasma membrane-cytoskeleton-endoplasmic reticulum complexes in neurons and astrocytes
-
Lencesova L, O'Neill A, Resneck WG, Bloch RJ, Blaustein MP. 2004. Plasma membrane-cytoskeleton-endoplasmic reticulum complexes in neurons and astrocytes. J Biol Chem 279:2885-2893.
-
(2004)
J Biol Chem
, vol.279
, pp. 2885-2893
-
-
Lencesova, L.1
O'Neill, A.2
Resneck, W.G.3
Bloch, R.J.4
Blaustein, M.P.5
-
36
-
-
38849099306
-
The genetics of neuronal channelopathies
-
Chichester: John Wiley & Sons
-
Ma S, Gargus JJ. 2007a. The genetics of neuronal channelopathies. In: Encyclopedia of life sciences. Chichester: John Wiley & Sons.
-
(2007)
Encyclopedia of life sciences
-
-
Ma, S.1
Gargus, J.J.2
-
37
-
-
38849118648
-
Functional analysis of familial hemiplegic migraine loci in C. elegans. Abstract 324A
-
Los Angeles, CA
-
Ma S, Gargus JJ. 2007b. Functional analysis of familial hemiplegic migraine loci in C. elegans. Abstract 324A. In: 16th International C. elegans meeting, Los Angeles, CA.
-
(2007)
16th International C. elegans meeting
-
-
Ma, S.1
Gargus, J.J.2
-
38
-
-
0041342029
-
Critical residues of the Caenorhabditis elegans unc-2 voltage-gated calcium channel that affect behavioral and physiological properties
-
Mathews EA, Garcia E, Santi CM, Mullen GP, Thacker C, Moerman DG, Snutch TP. 2003. Critical residues of the Caenorhabditis elegans unc-2 voltage-gated calcium channel that affect behavioral and physiological properties. J Neurosci 23:6537-6545.
-
(2003)
J Neurosci
, vol.23
, pp. 6537-6545
-
-
Mathews, E.A.1
Garcia, E.2
Santi, C.M.3
Mullen, G.P.4
Thacker, C.5
Moerman, D.G.6
Snutch, T.P.7
-
40
-
-
0346118913
-
Cell signaling microdomain with Na,K-ATPase and inositol 1,4,5-trisphosphate receptor generates calcium oscillations
-
Miyakawa-Naito A, Uhlen P, Lal M, Aizman O, Mikoshiba K, Brismar H, Zelenin S, Aperia A. 2003. Cell signaling microdomain with Na,K-ATPase and inositol 1,4,5-trisphosphate receptor generates calcium oscillations. J Biol Chem 278:50355-50361.
-
(2003)
J Biol Chem
, vol.278
, pp. 50355-50361
-
-
Miyakawa-Naito, A.1
Uhlen, P.2
Lal, M.3
Aizman, O.4
Mikoshiba, K.5
Brismar, H.6
Zelenin, S.7
Aperia, A.8
-
41
-
-
0242464931
-
Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death
-
Mohler PJ, Schott JJ, Gramolini AO, Dilly KW, Guatimosim S, duBell WH, Song LS, Haurogne K, Kyndt F, Ali ME, Rogers TB, Lederer WJ, Escande D, Le Marec H, Bennett V. 2003. Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death. Nature 421:634-429.
-
(2003)
Nature
, vol.421
, pp. 634-429
-
-
Mohler, P.J.1
Schott, J.J.2
Gramolini, A.O.3
Dilly, K.W.4
Guatimosim, S.5
duBell, W.H.6
Song, L.S.7
Haurogne, K.8
Kyndt, F.9
Ali, M.E.10
Rogers, T.B.11
Lederer, W.J.12
Escande, D.13
Le Marec, H.14
Bennett, V.15
-
42
-
-
29144509561
-
Ankyrin-B coordinates the Na/K ATPase, Na/Ca exchanger, and InsP3 receptor in a cardiac T-tubule/SR microdomain
-
Mohler PJ, Davis JQ, Bennett V. 2005. Ankyrin-B coordinates the Na/K ATPase, Na/Ca exchanger, and InsP3 receptor in a cardiac T-tubule/SR microdomain. PLoS Biol 3:e423-429.
-
(2005)
PLoS Biol
, vol.3
-
-
Mohler, P.J.1
Davis, J.Q.2
Bennett, V.3
-
43
-
-
0030922550
-
Malignant-hyperthermia susceptibility is associated with a mutation of the alpha-1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle
-
Monnier N, Procaccio V, Stieglitz P, Lunardi J. 1997. Malignant-hyperthermia susceptibility is associated with a mutation of the alpha-1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle. Am J Hum Genet 60:1316-1325.
-
(1997)
Am J Hum Genet
, vol.60
, pp. 1316-1325
-
-
Monnier, N.1
Procaccio, V.2
Stieglitz, P.3
Lunardi, J.4
-
44
-
-
0842282679
-
Deciphering migraine mechanisms: Clues from familial hemiplegic migraine genotypes
-
Moskowitz MA, Bolay H, Dalkara T. 2004. Deciphering migraine mechanisms: clues from familial hemiplegic migraine genotypes. Ann Neurol 55:276-280.
-
(2004)
Ann Neurol
, vol.55
, pp. 276-280
-
-
Moskowitz, M.A.1
Bolay, H.2
Dalkara, T.3
-
45
-
-
16044370232
-
2+ channel gene CACNL1A4
-
2+ channel gene CACNL1A4. Cell 87:543-552.
-
(1996)
Cell
, vol.87
, pp. 543-552
-
-
Ophoff, R.A.1
Terwindt, G.M.2
Vergouwe, M.N.3
van Eijk, R.4
Oefner, P.J.5
Hoffman, S.M.6
Lamerdin, J.E.7
Mohrenweiser, H.W.8
Bulman, D.E.9
Ferrari, M.10
Haan, J.11
Lindhout, D.12
van Ommen, G.J.13
Hofker, M.H.14
Ferrari, M.D.15
Frants, R.R.16
-
46
-
-
20444428550
-
Migraine: New molecular mechanisms
-
Pietrobon D. 2005. Migraine: new molecular mechanisms. Neuroscientist 11:373-386.
-
(2005)
Neuroscientist
, vol.11
, pp. 373-386
-
-
Pietrobon, D.1
-
47
-
-
0034616911
-
2+ channels
-
2+ channels. Cell 102:89-97.
-
(2000)
Cell
, vol.102
, pp. 89-97
-
-
Platzer, J.1
Engel, J.2
Schrott-Fischer, A.3
Stephan, K.4
Bova, S.5
Chen, H.6
Zheng, H.7
Striessnig, J.8
-
48
-
-
0028234647
-
Dihydropyridine receptor mutations cause hypokalemic periodic paralysis
-
Ptacek LJ, Tawil R, Griggs RC, Engel AG, Layzer RB, Kwiecinski H, McManis PG, Santiago L, Moore M, Fouad G, Bradley P, Leppert MF. 1994. Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell 77:863-868.
-
(1994)
Cell
, vol.77
, pp. 863-868
-
-
Ptacek, L.J.1
Tawil, R.2
Griggs, R.C.3
Engel, A.G.4
Layzer, R.B.5
Kwiecinski, H.6
McManis, P.G.7
Santiago, L.8
Moore, M.9
Fouad, G.10
Bradley, P.11
Leppert, M.F.12
-
49
-
-
34547817696
-
New perspectives for the elucidation of genetic disorders
-
Ropers HH. 2007. New perspectives for the elucidation of genetic disorders. Am J Hum Genet 81:199-207.
-
(2007)
Am J Hum Genet
, vol.81
, pp. 199-207
-
-
Ropers, H.H.1
-
50
-
-
22244474919
-
Distinct kinetic changes in neurotransmitter release after SNARE protein cleavage
-
Sakaba T, Stein A, Jahn R, Neher E. 2005. Distinct kinetic changes in neurotransmitter release after SNARE protein cleavage. Science 309:491-494.
-
(2005)
Science
, vol.309
, pp. 491-494
-
-
Sakaba, T.1
Stein, A.2
Jahn, R.3
Neher, E.4
-
51
-
-
0028999395
-
A calcium-channel homologue required for adaptation to dopamine and serotonin in Caenorhabditis elegans
-
Schafer WR, Kenyon CJ. 1995. A calcium-channel homologue required for adaptation to dopamine and serotonin in Caenorhabditis elegans. Nature 375:73-78.
-
(1995)
Nature
, vol.375
, pp. 73-78
-
-
Schafer, W.R.1
Kenyon, C.J.2
-
52
-
-
6344270254
-
Kinetic alterations due to a missense mutation in the Na,K-ATPase α2 subunit cause familial hemiplegic migraine type 2
-
Segall L, Scanzano R, Kaunisto MA, Wessman M, Palotie A, Gargus JJ, Blostein R. 2004. Kinetic alterations due to a missense mutation in the Na,K-ATPase α2 subunit cause familial hemiplegic migraine type 2. J Biol Chem 279:43692-43696.
-
(2004)
J Biol Chem
, vol.279
, pp. 43692-43696
-
-
Segall, L.1
Scanzano, R.2
Kaunisto, M.A.3
Wessman, M.4
Palotie, A.5
Gargus, J.J.6
Blostein, R.7
-
53
-
-
23344436784
-
Alterations in the α2 isoform of the Na,K-ATPase associated with familial hemiplegic migraine type 2
-
Segall L, Mezzetti A, Scanzano R, Gargus JJ, Purisima E, Blostein R. 2005. Alterations in the α2 isoform of the Na,K-ATPase associated with familial hemiplegic migraine type 2. Proc Natl Acad Sci USA 102:11106-11111.
-
(2005)
Proc Natl Acad Sci USA
, vol.102
, pp. 11106-11111
-
-
Segall, L.1
Mezzetti, A.2
Scanzano, R.3
Gargus, J.J.4
Purisima, E.5
Blostein, R.6
-
54
-
-
23144441321
-
Systematic analysis of genes required for synapse structure and function
-
Sieburth D, Ch'ng Q, Dybbs M, Tavazoie M, Kennedy S, Wang D, Dupuy D, Rual JF, Hill DE, Vidal M, Ruvkun G, Kaplan JM. 2005. Systematic analysis of genes required for synapse structure and function. Nature 436:510-527.
-
(2005)
Nature
, vol.436
, pp. 510-527
-
-
Sieburth, D.1
Ch'ng, Q.2
Dybbs, M.3
Tavazoie, M.4
Kennedy, S.5
Wang, D.6
Dupuy, D.7
Rual, J.F.8
Hill, D.E.9
Vidal, M.10
Ruvkun, G.11
Kaplan, J.M.12
-
55
-
-
5344223383
-
CaV1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism
-
Splawski I, Timothy KW, Sharpe LM, Decher N, Kumar P, Bloise R, Napolitano C, Schwartz PJ, Joseph RM, Condouris K, Tager-Flusberg H, Priori SG, Sanguinetti MC, Keating MT. 2004. CaV1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell 119:19-31.
-
(2004)
Cell
, vol.119
, pp. 19-31
-
-
Splawski, I.1
Timothy, K.W.2
Sharpe, L.M.3
Decher, N.4
Kumar, P.5
Bloise, R.6
Napolitano, C.7
Schwartz, P.J.8
Joseph, R.M.9
Condouris, K.10
Tager-Flusberg, H.11
Priori, S.G.12
Sanguinetti, M.C.13
Keating, M.T.14
-
56
-
-
33746805846
-
CACNA1H mutations in autism spectrum disorders
-
Splawski I, Yoo DS, Stotz SC, Cherry A, Clapham DE, Keating MT. 2006. CACNA1H mutations in autism spectrum disorders. J Biol Chem 281:22085-22091.
-
(2006)
J Biol Chem
, vol.281
, pp. 22085-22091
-
-
Splawski, I.1
Yoo, D.S.2
Stotz, S.C.3
Cherry, A.4
Clapham, D.E.5
Keating, M.T.6
-
57
-
-
17344366487
-
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness
-
Strom TM, Nyakatura G, Apfelstedt-Sylla E, Hellebrand H, Lorenz B, Weber BHF, Wutz K, Gutwillinger N, Ruther K, Drescher B, Sauer C, Zrenner E, Meitinger T, Rosenthal A, Meindl A. 1998. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness. Nat Genet 19:260-263.
-
(1998)
Nat Genet
, vol.19
, pp. 260-263
-
-
Strom, T.M.1
Nyakatura, G.2
Apfelstedt-Sylla, E.3
Hellebrand, H.4
Lorenz, B.5
Weber, B.H.F.6
Wutz, K.7
Gutwillinger, N.8
Ruther, K.9
Drescher, B.10
Sauer, C.11
Zrenner, E.12
Meitinger, T.13
Rosenthal, A.14
Meindl, A.15
-
58
-
-
0037046207
-
Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy
-
Sugawara T, Mazaki-Miyazaki E, Fukushima K, Shimomura J, Fujiwara T, Hamano S, Inoue Y, Yamakawa K. 2002. Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology 58:1122-1124.
-
(2002)
Neurology
, vol.58
, pp. 1122-1124
-
-
Sugawara, T.1
Mazaki-Miyazaki, E.2
Fukushima, K.3
Shimomura, J.4
Fujiwara, T.5
Hamano, S.6
Inoue, Y.7
Yamakawa, K.8
-
61
-
-
3242888769
-
Crystal structure of the calcium pump with a bound ATP analogue
-
Toyoshima C, Mizutani T. 2004. Crystal structure of the calcium pump with a bound ATP analogue. Nature 430:529-535.
-
(2004)
Nature
, vol.430
, pp. 529-535
-
-
Toyoshima, C.1
Mizutani, T.2
-
62
-
-
22244479388
-
Copper-zinc superoxide dismutase and amyotrophic lateral sclerosis
-
Valentine JS, Doucette PA, Zittin PS. 2004. Copper-zinc superoxide dismutase and amyotrophic lateral sclerosis. Annu Rev Biochem 74:563-593.
-
(2004)
Annu Rev Biochem
, vol.74
, pp. 563-593
-
-
Valentine, J.S.1
Doucette, P.A.2
Zittin, P.S.3
-
63
-
-
0037222315
-
Sodium channels SCN1A, SCN2A and SCN3A in familial autism
-
Weiss LA, Escayg A, Kearney JA, Trudeau M, MacDonald BT, Mori M, Reichert J, Buxbaum JD, Meisler MH. 2003. Sodium channels SCN1A, SCN2A and SCN3A in familial autism. Mol Psychiatry 8:186-194.
-
(2003)
Mol Psychiatry
, vol.8
, pp. 186-194
-
-
Weiss, L.A.1
Escayg, A.2
Kearney, J.A.3
Trudeau, M.4
MacDonald, B.T.5
Mori, M.6
Reichert, J.7
Buxbaum, J.D.8
Meisler, M.H.9
-
64
-
-
34248371229
-
Migraine: A complex genetic disorder
-
Wessman M, Terwindt GM, Kaunisto MA, Palotie A, Ophoff RA. 2007. Migraine: a complex genetic disorder. Lancet Neurol 6:521-532.
-
(2007)
Lancet Neurol
, vol.6
, pp. 521-532
-
-
Wessman, M.1
Terwindt, G.M.2
Kaunisto, M.A.3
Palotie, A.4
Ophoff, R.A.5
-
65
-
-
0030776159
-
Progressive ataxia due to a missense mutation in a calcium-channel gene
-
Yue Q, Jen JC, Nelson SF, Baloh RW. 1997. Progressive ataxia due to a missense mutation in a calcium-channel gene. Am J Hum Genet 61:1078-1087.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 1078-1087
-
-
Yue, Q.1
Jen, J.C.2
Nelson, S.F.3
Baloh, R.W.4
-
66
-
-
0031012399
-
1A-voltage-dependent calcium channel
-
1A-voltage-dependent calcium channel. Nat Genet 15:62-69.
-
(1997)
Nat Genet
, vol.15
, pp. 62-69
-
-
Zhuchenko, O.1
Bailey, J.2
Bonnen, P.3
Ashizawa, T.4
Stockton, D.W.5
Amos, C.6
Dobyns, W.B.7
Subramony, S.H.8
Zoghbi, H.Y.9
Lee, C.C.10
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