-
1
-
-
0037042098
-
Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32
-
Brkanac Z., Fernandez M., Matsushita M., Lipe H., Wolff J., Bird T.D., and Raskind W.H. Autosomal dominant sensory/motor neuropathy with Ataxia (SMNA): Linkage to chromosome 7q22-q32. Am. J. Med. Genet. 114 (2002) 450-457
-
(2002)
Am. J. Med. Genet.
, vol.114
, pp. 450-457
-
-
Brkanac, Z.1
Fernandez, M.2
Matsushita, M.3
Lipe, H.4
Wolff, J.5
Bird, T.D.6
Raskind, W.H.7
-
2
-
-
65149089614
-
-
Bird TD Hereditary Ataxia Overview
-
Bird TD Hereditary Ataxia Overview.
-
-
-
-
3
-
-
0037385006
-
Missense mutations in the regulatory domain of PKC gamma: A new mechanism for dominant nonepisodic cerebellar ataxia
-
Chen D.H., Brkanac Z., Verlinde C.L., Tan X.J., Bylenok L., Nochlin D., Matsushita M., Lipe H., Wolff J., Fernandez M., et al. Missense mutations in the regulatory domain of PKC gamma: A new mechanism for dominant nonepisodic cerebellar ataxia. Am. J. Hum. Genet. 72 (2003) 839-849
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 839-849
-
-
Chen, D.H.1
Brkanac, Z.2
Verlinde, C.L.3
Tan, X.J.4
Bylenok, L.5
Nochlin, D.6
Matsushita, M.7
Lipe, H.8
Wolff, J.9
Fernandez, M.10
-
4
-
-
35748951614
-
Direct selection of human genomic loci by microarray hybridization
-
Albert T.J., Molla M.N., Muzny D.M., Nazareth L., Wheeler D., Song X., Richmond T.A., Middle C.M., Rodesch M.J., Packard C.J., et al. Direct selection of human genomic loci by microarray hybridization. Nat. Methods 4 (2007) 903-905
-
(2007)
Nat. Methods
, vol.4
, pp. 903-905
-
-
Albert, T.J.1
Molla, M.N.2
Muzny, D.M.3
Nazareth, L.4
Wheeler, D.5
Song, X.6
Richmond, T.A.7
Middle, C.M.8
Rodesch, M.J.9
Packard, C.J.10
-
5
-
-
55549097836
-
Mapping short DNA sequencing reads and calling variants using mapping quality scores
-
Li H., Ruan J., and Durbin R. Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res. 18 (2008) 1851-1858
-
(2008)
Genome Res.
, vol.18
, pp. 1851-1858
-
-
Li, H.1
Ruan, J.2
Durbin, R.3
-
6
-
-
34250810249
-
Evaluation of candidate genes for DYX1 and DYX2 in families with dyslexia
-
Brkanac Z., Chapman N.H., Matsushita M.M., Chun L., Nielsen K., Cochrane E., Berninger V.W., Wijsman E.M., and Raskind W.H. Evaluation of candidate genes for DYX1 and DYX2 in families with dyslexia. Am. J. Med. Genet. B. Neuropsychiatr. Genet. 144B (2007) 556-560
-
(2007)
Am. J. Med. Genet. B. Neuropsychiatr. Genet.
, vol.144 B
, pp. 556-560
-
-
Brkanac, Z.1
Chapman, N.H.2
Matsushita, M.M.3
Chun, L.4
Nielsen, K.5
Cochrane, E.6
Berninger, V.W.7
Wijsman, E.M.8
Raskind, W.H.9
-
7
-
-
0024556705
-
Early gene regulation by nerve growth factor in PC12 cells: Induction of an interferon-related gene
-
Tirone F., and Shooter E.M. Early gene regulation by nerve growth factor in PC12 cells: Induction of an interferon-related gene. Proc. Natl. Acad. Sci. USA 86 (1989) 2088-2092
-
(1989)
Proc. Natl. Acad. Sci. USA
, vol.86
, pp. 2088-2092
-
-
Tirone, F.1
Shooter, E.M.2
-
8
-
-
0024446482
-
Characterization of TIS7, a gene induced in Swiss 3T3 cells by the tumor promoter tetradecanoyl phorbol acetate
-
Varnum B.C., Lim R.W., and Herschman H.R. Characterization of TIS7, a gene induced in Swiss 3T3 cells by the tumor promoter tetradecanoyl phorbol acetate. Oncogene 4 (1989) 1263-1265
-
(1989)
Oncogene
, vol.4
, pp. 1263-1265
-
-
Varnum, B.C.1
Lim, R.W.2
Herschman, H.R.3
-
9
-
-
0024333374
-
TIS gene expression in cultured rat astrocytes: Multiple pathways of induction by mitogens
-
Arenander A.T., Lim R.W., Varnum B.C., Cole R., de Vellis J., and Herschman H.R. TIS gene expression in cultured rat astrocytes: Multiple pathways of induction by mitogens. J. Neurosci. Res. 23 (1989) 257-265
-
(1989)
J. Neurosci. Res.
, vol.23
, pp. 257-265
-
-
Arenander, A.T.1
Lim, R.W.2
Varnum, B.C.3
Cole, R.4
de Vellis, J.5
Herschman, H.R.6
-
10
-
-
17444448847
-
Cloning of the human interferon-related developmental regulator (IFRD1) gene coding for the PC4 protein, a member of a novel family of developmentally regulated genes
-
Buanne P., Incerti B., Guardavaccaro D., Avvantaggiato V., Simeone A., and Tirone F. Cloning of the human interferon-related developmental regulator (IFRD1) gene coding for the PC4 protein, a member of a novel family of developmentally regulated genes. Genomics 51 (1998) 233-242
-
(1998)
Genomics
, vol.51
, pp. 233-242
-
-
Buanne, P.1
Incerti, B.2
Guardavaccaro, D.3
Avvantaggiato, V.4
Simeone, A.5
Tirone, F.6
-
11
-
-
11144358198
-
A gene atlas of the mouse and human protein-encoding transcriptomes
-
Su A.I., Wiltshire T., Batalov S., Lapp H., Ching K.A., Block D., Zhang J., Soden R., Hayakawa M., Kreiman G., et al. A gene atlas of the mouse and human protein-encoding transcriptomes. Proc. Natl. Acad. Sci. USA 101 (2004) 6062-6067
-
(2004)
Proc. Natl. Acad. Sci. USA
, vol.101
, pp. 6062-6067
-
-
Su, A.I.1
Wiltshire, T.2
Batalov, S.3
Lapp, H.4
Ching, K.A.5
Block, D.6
Zhang, J.7
Soden, R.8
Hayakawa, M.9
Kreiman, G.10
-
12
-
-
0028355513
-
Nerve growth factor regulates the subcellular localization of the nerve growth factor-inducible protein PC4 in PC12 cells
-
Guardavaccaro D., Montagnoli A., Ciotti M.T., Gatti A., Lotti L., Di Lazzaro C., Torrisi M.R., and Tirone F. Nerve growth factor regulates the subcellular localization of the nerve growth factor-inducible protein PC4 in PC12 cells. J. Neurosci. Res. 37 (1994) 660-674
-
(1994)
J. Neurosci. Res.
, vol.37
, pp. 660-674
-
-
Guardavaccaro, D.1
Montagnoli, A.2
Ciotti, M.T.3
Gatti, A.4
Lotti, L.5
Di Lazzaro, C.6
Torrisi, M.R.7
Tirone, F.8
-
13
-
-
18544383626
-
TIS7 interacts with the mammalian SIN3 histone deacetylase complex in epithelial cells
-
Vietor I., Vadivelu S.K., Wick N., Hoffman R., Cotten M., Seiser C., Fialka I., Wunderlich W., Haase A., Korinkova G., et al. TIS7 interacts with the mammalian SIN3 histone deacetylase complex in epithelial cells. EMBO J. 21 (2002) 4621-4631
-
(2002)
EMBO J.
, vol.21
, pp. 4621-4631
-
-
Vietor, I.1
Vadivelu, S.K.2
Wick, N.3
Hoffman, R.4
Cotten, M.5
Seiser, C.6
Fialka, I.7
Wunderlich, W.8
Haase, A.9
Korinkova, G.10
-
14
-
-
1942517847
-
A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception
-
Einarsdottir E., Carlsson A., Minde J., Toolanen G., Svensson O., Solders G., Holmgren G., Holmberg D., and Holmberg M. A mutation in the nerve growth factor beta gene (NGFB) causes loss of pain perception. Hum. Mol. Genet. 13 (2004) 799-805
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 799-805
-
-
Einarsdottir, E.1
Carlsson, A.2
Minde, J.3
Toolanen, G.4
Svensson, O.5
Solders, G.6
Holmgren, G.7
Holmberg, D.8
Holmberg, M.9
-
15
-
-
60249097681
-
A novel NGFB point mutation: A phenotype study of heterozygous patients
-
Minde J., Andersson T., Fulford M., Aguirre M., Nennesmo I., Remahl I.N., Svensson O., Holmberg M., Toolanen G., and Solders G. A novel NGFB point mutation: A phenotype study of heterozygous patients. J. Neurol. Neurosurg. Psychiatry 80 (2009) 188-195
-
(2009)
J. Neurol. Neurosurg. Psychiatry
, vol.80
, pp. 188-195
-
-
Minde, J.1
Andersson, T.2
Fulford, M.3
Aguirre, M.4
Nennesmo, I.5
Remahl, I.N.6
Svensson, O.7
Holmberg, M.8
Toolanen, G.9
Solders, G.10
-
16
-
-
0026747063
-
Targeted mutation of the gene encoding the low affinity NGF receptor p75 leads to deficits in the peripheral sensory nervous system
-
Lee K.F., Li E., Huber L.J., Landis S.C., Sharpe A.H., Chao M.V., and Jaenisch R. Targeted mutation of the gene encoding the low affinity NGF receptor p75 leads to deficits in the peripheral sensory nervous system. Cell 69 (1992) 737-749
-
(1992)
Cell
, vol.69
, pp. 737-749
-
-
Lee, K.F.1
Li, E.2
Huber, L.J.3
Landis, S.C.4
Sharpe, A.H.5
Chao, M.V.6
Jaenisch, R.7
-
17
-
-
15844369925
-
Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis
-
Indo Y., Tsuruta M., Hayashida Y., Karim M.A., Ohta K., Kawano T., Mitsubuchi H., Tonoki H., Awaya Y., and Matsuda I. Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis. Nat. Genet. 13 (1996) 485-488
-
(1996)
Nat. Genet.
, vol.13
, pp. 485-488
-
-
Indo, Y.1
Tsuruta, M.2
Hayashida, Y.3
Karim, M.A.4
Ohta, K.5
Kawano, T.6
Mitsubuchi, H.7
Tonoki, H.8
Awaya, Y.9
Matsuda, I.10
-
18
-
-
1842609776
-
Muscle regeneration and myogenic differentiation defects in mice lacking TIS7
-
Vadivelu S.K., Kurzbauer R., Dieplinger B., Zweyer M., Schafer R., Wernig A., Vietor I., and Huber L.A. Muscle regeneration and myogenic differentiation defects in mice lacking TIS7. Mol. Cell. Biol. 24 (2004) 3514-3525
-
(2004)
Mol. Cell. Biol.
, vol.24
, pp. 3514-3525
-
-
Vadivelu, S.K.1
Kurzbauer, R.2
Dieplinger, B.3
Zweyer, M.4
Schafer, R.5
Wernig, A.6
Vietor, I.7
Huber, L.A.8
-
19
-
-
36949009841
-
The transcriptional corepressor TPA-inducible sequence 7 regulates adult axon growth through cellular retinoic acid binding protein II expression
-
Dieplinger B., Schiefermeier N., Juchum-Pasquazzo M., Gstir R., Huber L.A., Klimaschewski L., and Vietor I. The transcriptional corepressor TPA-inducible sequence 7 regulates adult axon growth through cellular retinoic acid binding protein II expression. Eur. J. Neurosci. 26 (2007) 3358-3367
-
(2007)
Eur. J. Neurosci.
, vol.26
, pp. 3358-3367
-
-
Dieplinger, B.1
Schiefermeier, N.2
Juchum-Pasquazzo, M.3
Gstir, R.4
Huber, L.A.5
Klimaschewski, L.6
Vietor, I.7
-
20
-
-
23744458086
-
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes
-
Siepel A., Bejerano G., Pedersen J.S., Hinrichs A.S., Hou M., Rosenbloom K., Clawson H., Spieth J., Hillier L.W., Richards S., et al. Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res. 15 (2005) 1034-1050
-
(2005)
Genome Res.
, vol.15
, pp. 1034-1050
-
-
Siepel, A.1
Bejerano, G.2
Pedersen, J.S.3
Hinrichs, A.S.4
Hou, M.5
Rosenbloom, K.6
Clawson, H.7
Spieth, J.8
Hillier, L.W.9
Richards, S.10
-
21
-
-
31544452561
-
Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease
-
Tartaglia M., Martinelli S., Stella L., Bocchinfuso G., Flex E., Cordeddu V., Zampino G., Burgt I., Palleschi A., Petrucci T.C., et al. Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. Am. J. Hum. Genet. 78 (2006) 279-290
-
(2006)
Am. J. Hum. Genet.
, vol.78
, pp. 279-290
-
-
Tartaglia, M.1
Martinelli, S.2
Stella, L.3
Bocchinfuso, G.4
Flex, E.5
Cordeddu, V.6
Zampino, G.7
Burgt, I.8
Palleschi, A.9
Petrucci, T.C.10
-
22
-
-
45749117233
-
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes
-
Martinelli S., Torreri P., Tinti M., Stella L., Bocchinfuso G., Flex E., Grottesi A., Ceccarini M., Palleschi A., Cesareni G., et al. Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes. Hum. Mol. Genet. 17 (2008) 2018-2029
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 2018-2029
-
-
Martinelli, S.1
Torreri, P.2
Tinti, M.3
Stella, L.4
Bocchinfuso, G.5
Flex, E.6
Grottesi, A.7
Ceccarini, M.8
Palleschi, A.9
Cesareni, G.10
-
23
-
-
9844261165
-
A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43)
-
Eckman C.B., Mehta N.D., Crook R., Perez-tur J., Prihar G., Pfeiffer E., Graff-Radford N., Hinder P., Yager D., Zenk B., et al. A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43). Hum. Mol. Genet. 6 (1997) 2087-2089
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 2087-2089
-
-
Eckman, C.B.1
Mehta, N.D.2
Crook, R.3
Perez-tur, J.4
Prihar, G.5
Pfeiffer, E.6
Graff-Radford, N.7
Hinder, P.8
Yager, D.9
Zenk, B.10
-
24
-
-
1042288147
-
Clinical features of Creutzfeldt-Jakob disease with V180I mutation
-
Jin K., Shiga Y., Shibuya S., Chida K., Sato Y., Konno H., Doh-ura K., Kitamoto T., and Itoyama Y. Clinical features of Creutzfeldt-Jakob disease with V180I mutation. Neurology 62 (2004) 502-505
-
(2004)
Neurology
, vol.62
, pp. 502-505
-
-
Jin, K.1
Shiga, Y.2
Shibuya, S.3
Chida, K.4
Sato, Y.5
Konno, H.6
Doh-ura, K.7
Kitamoto, T.8
Itoyama, Y.9
-
25
-
-
0027378249
-
A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease
-
Pocchiari M., Salvatore M., Cutruzzola F., Genuardi M., Allocatelli C.T., Masullo C., Macchi G., Alema G., Galgani S., Xi Y.G., et al. A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease. Ann. Neurol. 34 (1993) 802-807
-
(1993)
Ann. Neurol.
, vol.34
, pp. 802-807
-
-
Pocchiari, M.1
Salvatore, M.2
Cutruzzola, F.3
Genuardi, M.4
Allocatelli, C.T.5
Masullo, C.6
Macchi, G.7
Alema, G.8
Galgani, S.9
Xi, Y.G.10
-
26
-
-
0032852215
-
Mutation at codon 210 (V210I) of the prion protein gene in a North African patient with Creutzfeldt-Jakob disease
-
Mouillet-Richard S., Teil C., Lenne M., Hugon S., Taleb O., and Laplanche J.L. Mutation at codon 210 (V210I) of the prion protein gene in a North African patient with Creutzfeldt-Jakob disease. J. Neurol. Sci. 168 (1999) 141-144
-
(1999)
J. Neurol. Sci.
, vol.168
, pp. 141-144
-
-
Mouillet-Richard, S.1
Teil, C.2
Lenne, M.3
Hugon, S.4
Taleb, O.5
Laplanche, J.L.6
-
27
-
-
0035847063
-
The Val-210-Ile pathogenic Creutzfeldt-Jakob disease mutation increases both the helical and aggregation propensities of a sequence corresponding to helix-3 of PrP(C)
-
Thompson A.J., Barnham K.J., Norton R.S., and Barrow C.J. The Val-210-Ile pathogenic Creutzfeldt-Jakob disease mutation increases both the helical and aggregation propensities of a sequence corresponding to helix-3 of PrP(C). Biochim. Biophys. Acta 1544 (2001) 242-254
-
(2001)
Biochim. Biophys. Acta
, vol.1544
, pp. 242-254
-
-
Thompson, A.J.1
Barnham, K.J.2
Norton, R.S.3
Barrow, C.J.4
-
28
-
-
38549141229
-
Exploring the extremes of sequence/structure space with ensemble fold recognition in the program Phyre
-
Bennett-Lovsey R.M., Herbert A.D., Sternberg M.J., and Kelley L.A. Exploring the extremes of sequence/structure space with ensemble fold recognition in the program Phyre. Proteins 70 (2008) 611-625
-
(2008)
Proteins
, vol.70
, pp. 611-625
-
-
Bennett-Lovsey, R.M.1
Herbert, A.D.2
Sternberg, M.J.3
Kelley, L.A.4
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