-
1
-
-
34447116281
-
Phosphoinositides' link to neurodegeneration
-
Volpicelli-Daley L., and De Camilli P. Phosphoinositides' link to neurodegeneration. Nat. Med. 13 (2007) 784-786
-
(2007)
Nat. Med.
, vol.13
, pp. 784-786
-
-
Volpicelli-Daley, L.1
De Camilli, P.2
-
2
-
-
33750485772
-
The mammalian phosphatidylinositol 3-phosphate 5-kinase (PIKfyve) regulates endosome-to-TGN retrograde transport
-
Rutherford A.C., Traer C., Wassmer T., Pattni K., Bujny M.V., Carlton J.G., Stenmark H., and Cullen P.J. The mammalian phosphatidylinositol 3-phosphate 5-kinase (PIKfyve) regulates endosome-to-TGN retrograde transport. J. Cell Sci. 119 (2006) 3944-3957
-
(2006)
J. Cell Sci.
, vol.119
, pp. 3944-3957
-
-
Rutherford, A.C.1
Traer, C.2
Wassmer, T.3
Pattni, K.4
Bujny, M.V.5
Carlton, J.G.6
Stenmark, H.7
Cullen, P.J.8
-
3
-
-
36349018627
-
Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice
-
Zhang Y., Zolov S.N., Chow C.Y., Slutsky S.G., Richardson S.C., Piper R.C., Yang B., Nau J.J., Westrick R.J., Morrison S.J., et al. Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice. Proc. Natl. Acad. Sci. USA 104 (2007) 17518-17523
-
(2007)
Proc. Natl. Acad. Sci. USA
, vol.104
, pp. 17518-17523
-
-
Zhang, Y.1
Zolov, S.N.2
Chow, C.Y.3
Slutsky, S.G.4
Richardson, S.C.5
Piper, R.C.6
Yang, B.7
Nau, J.J.8
Westrick, R.J.9
Morrison, S.J.10
-
4
-
-
34447133038
-
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J
-
Chow C.Y., Zhang Y., Dowling J.J., Jin N., Adamska M., Shiga K., Szigeti K., Shy M.E., Li J., Zhang X., et al. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature 448 (2007) 68-72
-
(2007)
Nature
, vol.448
, pp. 68-72
-
-
Chow, C.Y.1
Zhang, Y.2
Dowling, J.J.3
Jin, N.4
Adamska, M.5
Shiga, K.6
Szigeti, K.7
Shy, M.E.8
Li, J.9
Zhang, X.10
-
5
-
-
49449098975
-
Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration
-
Zhang X., Chow C.Y., Sahenk Z., Shy M.E., Meisler M.H., and Li J. Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration. Brain 131 (2008) 1990-2001
-
(2008)
Brain
, vol.131
, pp. 1990-2001
-
-
Zhang, X.1
Chow, C.Y.2
Sahenk, Z.3
Shy, M.E.4
Meisler, M.H.5
Li, J.6
-
6
-
-
33747605320
-
Molecular biology of amyotrophic lateral sclerosis: insights from genetics
-
Pasinelli P., and Brown R.H. Molecular biology of amyotrophic lateral sclerosis: insights from genetics. Nat. Rev. Neurosci. 7 (2006) 710-723
-
(2006)
Nat. Rev. Neurosci.
, vol.7
, pp. 710-723
-
-
Pasinelli, P.1
Brown, R.H.2
-
8
-
-
0034069651
-
Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2
-
Escayg A., MacDonald B.T., Meisler M.H., Baulac S., Huberfeld G., An-Gourfinkel I., Brice A., LeGuern E., Moulard B., Chaigne D., et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat. Genet. 24 (2000) 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
-
9
-
-
33644895434
-
De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy
-
Rainier S., Sher C., Reish O., Thomas D., and Fink J.K. De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy. Arch. Neurol. 63 (2006) 445-447
-
(2006)
Arch. Neurol.
, vol.63
, pp. 445-447
-
-
Rainier, S.1
Sher, C.2
Reish, O.3
Thomas, D.4
Fink, J.K.5
-
10
-
-
33644499479
-
The Vac14p-Fig4p complex acts independently of Vac7p and couples PI3,5P2 synthesis and turnover
-
Duex J.E., Tang F., and Weisman L.S. The Vac14p-Fig4p complex acts independently of Vac7p and couples PI3,5P2 synthesis and turnover. J. Cell Biol. 172 (2006) 693-704
-
(2006)
J. Cell Biol.
, vol.172
, pp. 693-704
-
-
Duex, J.E.1
Tang, F.2
Weisman, L.S.3
-
12
-
-
33750142512
-
Aberrant 3′ splices sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization
-
Vorechovsky I. Aberrant 3′ splices sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Nucleic Acids Res. 34 (2006) 4630-4641
-
(2006)
Nucleic Acids Res.
, vol.34
, pp. 4630-4641
-
-
Vorechovsky, I.1
-
13
-
-
34547850647
-
Aberrant 5′ splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization
-
Buratti E., Chivers M., Královicová J., Romano M., Baralle M., Krainer A.R., and Vorechovsky I. Aberrant 5′ splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Nucleic Acids Res. 35 (2007) 4250-4263
-
(2007)
Nucleic Acids Res.
, vol.35
, pp. 4250-4263
-
-
Buratti, E.1
Chivers, M.2
Královicová, J.3
Romano, M.4
Baralle, M.5
Krainer, A.R.6
Vorechovsky, I.7
-
14
-
-
58049203044
-
2 levels in yeast and mouse
-
Published online November 27, 2008
-
2 levels in yeast and mouse. EMBO J. (2008) Published online November 27, 2008
-
(2008)
EMBO J.
-
-
Jin, N.1
Chow, C.Y.2
Liu, L.3
Zolov, S.N.4
Bronson, R.5
Davisson, M.6
Petersen, J.L.7
Zhang, Y.8
Park, S.9
Duex, J.E.10
-
15
-
-
0034062698
-
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
-
Bolino A., Muglia M., Conforti F.L., LeGuern E., Salih M.A., Georgiou D.M., Christodoulou K., Hausmanowa-Petrusewicz I., Mandich P., Schenone A., et al. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat. Genet. 25 (2000) 17-19
-
(2000)
Nat. Genet.
, vol.25
, pp. 17-19
-
-
Bolino, A.1
Muglia, M.2
Conforti, F.L.3
LeGuern, E.4
Salih, M.A.5
Georgiou, D.M.6
Christodoulou, K.7
Hausmanowa-Petrusewicz, I.8
Mandich, P.9
Schenone, A.10
-
16
-
-
0037322882
-
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15
-
Senderek J., Bergmann C., Weber S., Ketelsen U.P., Schorle H., Rudnik-Schöneborn S., Büttner R., Buchheim E., and Zerres K. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Hum. Mol. Genet. 12 (2003) 349-356
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 349-356
-
-
Senderek, J.1
Bergmann, C.2
Weber, S.3
Ketelsen, U.P.4
Schorle, H.5
Rudnik-Schöneborn, S.6
Büttner, R.7
Buchheim, E.8
Zerres, K.9
-
17
-
-
34347213793
-
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4
-
Stendel C., Roos A., Deconinck T., Pereira J., Castagner F., Niemann A., Kirschner J., Korinthenberg R., Ketelsen U.P., Battaloglu E., et al. Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. Am. J. Hum. Genet. 81 (2007) 158-164
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 158-164
-
-
Stendel, C.1
Roos, A.2
Deconinck, T.3
Pereira, J.4
Castagner, F.5
Niemann, A.6
Kirschner, J.7
Korinthenberg, R.8
Ketelsen, U.P.9
Battaloglu, E.10
-
18
-
-
34347240987
-
Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H
-
Delague V., Jacquier A., Hamadouche T., Poitelon Y., Baudot C., Boccaccio I., Chouery E., Chaouch M., Kassouri N., Jabbour R., et al. Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. Am. J. Hum. Genet. 81 (2007) 1-16
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 1-16
-
-
Delague, V.1
Jacquier, A.2
Hamadouche, T.3
Poitelon, Y.4
Baudot, C.5
Boccaccio, I.6
Chouery, E.7
Chaouch, M.8
Kassouri, N.9
Jabbour, R.10
-
19
-
-
41549153666
-
Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome
-
Hanein S., Martin E., Boukhris A., Byrne P., Goizet C., Hamri A., Benomar A., Lossos A., Denora P., Fernandez J., et al. Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome. Am. J. Hum. Genet. 82 (2008) 992-1002
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 992-1002
-
-
Hanein, S.1
Martin, E.2
Boukhris, A.3
Byrne, P.4
Goizet, C.5
Hamri, A.6
Benomar, A.7
Lossos, A.8
Denora, P.9
Fernandez, J.10
-
20
-
-
37849043062
-
Genetics of familial amyotrophic lateral sclerosis
-
Valdmanis P.N., and Rouleau G.A. Genetics of familial amyotrophic lateral sclerosis. Neurology 70 (2008) 144-152
-
(2008)
Neurology
, vol.70
, pp. 144-152
-
-
Valdmanis, P.N.1
Rouleau, G.A.2
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