-
1
-
-
19944433320
-
Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A
-
Abel A., Fonknechten N., Hofer A., Dürr A., Cruaud C., Voit T., Weissenbach J., Brice A., Klimpe S., Auburger G., et al. Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A. Neurogenetics 2004, 5:239-423.
-
(2004)
Neurogenetics
, vol.5
, pp. 239-423
-
-
Abel, A.1
Fonknechten, N.2
Hofer, A.3
Dürr, A.4
Cruaud, C.5
Voit, T.6
Weissenbach, J.7
Brice, A.8
Klimpe, S.9
Auburger, G.10
-
2
-
-
13444309076
-
Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families
-
Chen S., Song C., Guo H., Xu P., Huang W., Zhou Y., Sun J., Li C.X., Du Y., Li X., et al. Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families. Hum. Mutat. 2005, 25:135-141.
-
(2005)
Hum. Mutat.
, vol.25
, pp. 135-141
-
-
Chen, S.1
Song, C.2
Guo, H.3
Xu, P.4
Huang, W.5
Zhou, Y.6
Sun, J.7
Li, C.X.8
Du, Y.9
Li, X.10
-
3
-
-
9444232285
-
The extent of axonal loss in the long tracts in hereditary spastic paraplegia
-
Deluca G.C., Ebers G.C., Esiri M.M. The extent of axonal loss in the long tracts in hereditary spastic paraplegia. Neuropathol. Appl. Neurobiol. 2004, 30:576-584.
-
(2004)
Neuropathol. Appl. Neurobiol.
, vol.30
, pp. 576-584
-
-
Deluca, G.C.1
Ebers, G.C.2
Esiri, M.M.3
-
5
-
-
10044286171
-
Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia
-
Durr A., Camuzat A., Colin E., Tallaksen C., Hannequin D., Coutinho P., Fontaine B., Rossi A., Gil R., Rousselle C., et al. Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch. Neurol. 2004, 61:1867-1872.
-
(2004)
Arch. Neurol.
, vol.61
, pp. 1867-1872
-
-
Durr, A.1
Camuzat, A.2
Colin, E.3
Tallaksen, C.4
Hannequin, D.5
Coutinho, P.6
Fontaine, B.7
Rossi, A.8
Gil, R.9
Rousselle, C.10
-
6
-
-
0037081740
-
Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics
-
Errico A., Ballabio A., Rugarli E.I. Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics. Hum. Mol. Genet. 2002, 11:153-163.
-
(2002)
Hum. Mol. Genet.
, vol.11
, pp. 153-163
-
-
Errico, A.1
Ballabio, A.2
Rugarli, E.I.3
-
7
-
-
33746094658
-
Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance
-
Evans K., Keller C., Pavur K., Glasgow K., Conn B., Lauring B. Interaction of two hereditary spastic paraplegia gene products, spastin and atlastin, suggests a common pathway for axonal maintenance. P.N.A.S. 2006, 103:10666-10671.
-
(2006)
P.N.A.S.
, vol.103
, pp. 10666-10671
-
-
Evans, K.1
Keller, C.2
Pavur, K.3
Glasgow, K.4
Conn, B.5
Lauring, B.6
-
8
-
-
0032708407
-
Hereditary spastic paraplegia: heterogeneity and genotype/phenotype correlation
-
Fink J.K., Hedera P. Hereditary spastic paraplegia: heterogeneity and genotype/phenotype correlation. Semin. Neurol. 1999, 19:301-310.
-
(1999)
Semin. Neurol.
, vol.19
, pp. 301-310
-
-
Fink, J.K.1
Hedera, P.2
-
9
-
-
31544466788
-
Hereditary spastic paraplegia
-
Fink J.K. Hereditary spastic paraplegia. Curr. Neurol. Neurosci. Rep. 2006, 6:65-176.
-
(2006)
Curr. Neurol. Neurosci. Rep.
, vol.6
, pp. 65-176
-
-
Fink, J.K.1
-
11
-
-
0032721512
-
Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia
-
Hazan J., Fonknechten N., Mavel D., Paternotte C., Samson D., Artiguenave F., Davoine C.S., Cruaud C., Dürr A., Wincker P., et al. Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia. Nat. Genet. 1999, 23:296-303.
-
(1999)
Nat. Genet.
, vol.23
, pp. 296-303
-
-
Hazan, J.1
Fonknechten, N.2
Mavel, D.3
Paternotte, C.4
Samson, D.5
Artiguenave, F.6
Davoine, C.S.7
Cruaud, C.8
Dürr, A.9
Wincker, P.10
-
12
-
-
5344275885
-
Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia
-
Hedera P., Fenichel G.M., Blair M., Haines J.L. Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia. Arch. Neurol. 2004, 61:1600-1603.
-
(2004)
Arch. Neurol.
, vol.61
, pp. 1600-1603
-
-
Hedera, P.1
Fenichel, G.M.2
Blair, M.3
Haines, J.L.4
-
13
-
-
27644465298
-
Magnetic resonance imaging analysis of the spinal cord atrophy in autosomal dominant hereditary spastic paraplegia
-
Hedera P., Eldevik P.O., Maly P., Rainier S., Fink J.K. Magnetic resonance imaging analysis of the spinal cord atrophy in autosomal dominant hereditary spastic paraplegia. Neuroradiology 2005, 47:730-734.
-
(2005)
Neuroradiology
, vol.47
, pp. 730-734
-
-
Hedera, P.1
Eldevik, P.O.2
Maly, P.3
Rainier, S.4
Fink, J.K.5
-
14
-
-
68049096310
-
A class of dynamin-like GTAases involved in the generation of the tubular ER network
-
Hu J., Shibata Y., Zhu P.P., Voss C., Rismanchi N., Prinz W.A., Rapoport T.A., Blackstone C. A class of dynamin-like GTAases involved in the generation of the tubular ER network. Cell 2009, 138:549-561.
-
(2009)
Cell
, vol.138
, pp. 549-561
-
-
Hu, J.1
Shibata, Y.2
Zhu, P.P.3
Voss, C.4
Rismanchi, N.5
Prinz, W.A.6
Rapoport, T.A.7
Blackstone, C.8
-
15
-
-
33750363902
-
Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia
-
Kaneko S., Kawarai T., Yip E., Salehi-Rad S., Sato C., Orlacchio A., Bernardi G., Liang Y., Hasegawa H., Rogaeva E., et al. Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia. Mov. Disord. 2006, 21:1531-1533.
-
(2006)
Mov. Disord.
, vol.21
, pp. 1531-1533
-
-
Kaneko, S.1
Kawarai, T.2
Yip, E.3
Salehi-Rad, S.4
Sato, C.5
Orlacchio, A.6
Bernardi, G.7
Liang, Y.8
Hasegawa, H.9
Rogaeva, E.10
-
16
-
-
67349115341
-
Drosophila Atlastin regulates the stability of muscle microtubules and is required for synapse development
-
Lee M., Paik S.K., Lee M.J., Kim Y.J., Kim S., Nahm M., Oh S.J., Kim H.M., Yim J., Lee C.J., et al. Drosophila Atlastin regulates the stability of muscle microtubules and is required for synapse development. Dev. Biol. 2009, 330:250-262.
-
(2009)
Dev. Biol.
, vol.330
, pp. 250-262
-
-
Lee, M.1
Paik, S.K.2
Lee, M.J.3
Kim, Y.J.4
Kim, S.5
Nahm, M.6
Oh, S.J.7
Kim, H.M.8
Yim, J.9
Lee, C.J.10
-
17
-
-
57649183326
-
A conserved Cys-loop receptor aspartate residue in the M3-M4 cytoplasmic loop is required for GABAA receptor assembly
-
Lo W.Y., Botzolakis E.J., Tang X., Macdonald R.L. A conserved Cys-loop receptor aspartate residue in the M3-M4 cytoplasmic loop is required for GABAA receptor assembly. J. Biol. Chem. 2008, 283:29740-29752.
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 29740-29752
-
-
Lo, W.Y.1
Botzolakis, E.J.2
Tang, X.3
Macdonald, R.L.4
-
18
-
-
34247547922
-
Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis
-
Namekawa M., Muriel M.P., Janer A., Latouche M., Dauphin A., Debeir T., Martin E., Duyckaerts C., Prigent A., Depienne C., et al. Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis. Mol. Cell. Neurosci. 2007, 35:1-13.
-
(2007)
Mol. Cell. Neurosci.
, vol.35
, pp. 1-13
-
-
Namekawa, M.1
Muriel, M.P.2
Janer, A.3
Latouche, M.4
Dauphin, A.5
Debeir, T.6
Martin, E.7
Duyckaerts, C.8
Prigent, A.9
Depienne, C.10
-
19
-
-
69249205412
-
Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin
-
Orso G., Pendin D., Liu S., Tosetto J., Moss T.J., Faust J.E., Micaroni M., Egorova A., Martinuzzi A., McNew J.A., et al. Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin. Nature 2009, 460:978-983.
-
(2009)
Nature
, vol.460
, pp. 978-983
-
-
Orso, G.1
Pendin, D.2
Liu, S.3
Tosetto, J.4
Moss, T.J.5
Faust, J.E.6
Micaroni, M.7
Egorova, A.8
Martinuzzi, A.9
McNew, J.A.10
-
20
-
-
77951172861
-
Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network
-
Park S.H., Zhu P.P., Parker R.L., Blackstone C. Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. J. Clin. Invest. 2010, 120:1097-1110.
-
(2010)
J. Clin. Invest.
, vol.120
, pp. 1097-1110
-
-
Park, S.H.1
Zhu, P.P.2
Parker, R.L.3
Blackstone, C.4
-
21
-
-
0036699065
-
SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia
-
Patel H., Cross H., Proukakis C., Hershberger R., Bork P., Ciccarelli F.D., Patton M.A., McKusick V.A., Crosby A.H. SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. Nat. Genet. 2002, 4:347-348.
-
(2002)
Nat. Genet.
, vol.4
, pp. 347-348
-
-
Patel, H.1
Cross, H.2
Proukakis, C.3
Hershberger, R.4
Bork, P.5
Ciccarelli, F.D.6
Patton, M.A.7
McKusick, V.A.8
Crosby, A.H.9
-
22
-
-
0742288598
-
The dynamin superfamily: universal membrane tubulation and fission molecules?
-
Praefcke G.J., McMahon H.T. The dynamin superfamily: universal membrane tubulation and fission molecules?. Nat. Rev. Mol. Cell Biol. 2004, 5:133-147.
-
(2004)
Nat. Rev. Mol. Cell Biol.
, vol.5
, pp. 133-147
-
-
Praefcke, G.J.1
McMahon, H.T.2
-
23
-
-
0142122897
-
NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6)
-
Rainier S., Chai J.H., Tokarz D., Nicholls R.D., Fink J.K. NIPA1 gene mutations cause autosomal dominant hereditary spastic paraplegia (SPG6). Am. J. Hum. Genet. 2003, 73:967-971.
-
(2003)
Am. J. Hum. Genet.
, vol.73
, pp. 967-971
-
-
Rainier, S.1
Chai, J.H.2
Tokarz, D.3
Nicholls, R.D.4
Fink, J.K.5
-
24
-
-
20044364199
-
A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia
-
Reed J.A., Wilkinson P.A., Patel H., Simpson M.A., Chatonnet A., Robay D., Patton M.A., Crosby A.H., Warner T.T. A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. Neurogenetics 2005, 6:79-84.
-
(2005)
Neurogenetics
, vol.6
, pp. 79-84
-
-
Reed, J.A.1
Wilkinson, P.A.2
Patel, H.3
Simpson, M.A.4
Chatonnet, A.5
Robay, D.6
Patton, M.A.7
Crosby, A.H.8
Warner, T.T.9
-
25
-
-
0037328987
-
Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias
-
Reid E. Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias. J. Med. Genet. 2003, 40:81-86.
-
(2003)
J. Med. Genet.
, vol.40
, pp. 81-86
-
-
Reid, E.1
-
26
-
-
44349157134
-
Atlastin GTPase are required for Golgi apparatus and ER morphogenesis
-
Rismanchi N., Soderblom C., Stadler J., Zhu P.P., Blackstone C. Atlastin GTPase are required for Golgi apparatus and ER morphogenesis. Hum. Mol. Genet. 2008, 17:1591-1604.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 1591-1604
-
-
Rismanchi, N.1
Soderblom, C.2
Stadler, J.3
Zhu, P.P.4
Blackstone, C.5
-
27
-
-
55549094109
-
Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms
-
Salinas S., Proukakis C., Crosby A., Warner T.T. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol. 2008, 7:1127-1138.
-
(2008)
Lancet Neurol.
, vol.7
, pp. 1127-1138
-
-
Salinas, S.1
Proukakis, C.2
Crosby, A.3
Warner, T.T.4
-
28
-
-
31144453436
-
Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners
-
Sanderson C.M., Connell J.W., Edwards T.L., Bright N.A., Duley S., Thompson A., Luzio J.P., Reid E. Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners. Hum. Mol. Genet. 2006, 5:307-318.
-
(2006)
Hum. Mol. Genet.
, vol.5
, pp. 307-318
-
-
Sanderson, C.M.1
Connell, J.W.2
Edwards, T.L.3
Bright, N.A.4
Duley, S.5
Thompson, A.6
Luzio, J.P.7
Reid, E.8
-
29
-
-
1542783703
-
Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus
-
Sauter S.M., Engel W., Neumann L.M., Kunze J., Neesen J. Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus. Hum. Mutat. 2004, 23:98.
-
(2004)
Hum. Mutat.
, vol.23
, pp. 98
-
-
Sauter, S.M.1
Engel, W.2
Neumann, L.M.3
Kunze, J.4
Neesen, J.5
-
30
-
-
0242691095
-
Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia
-
Simpson M.A., Cross H., Proukakis C., Pryde A., Hershberger R., Chatonnet A., Patton M.A., Crosby A.H. Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am. J. Human Genet. 2003, 73:1147-1156.
-
(2003)
Am. J. Human Genet.
, vol.73
, pp. 1147-1156
-
-
Simpson, M.A.1
Cross, H.2
Proukakis, C.3
Pryde, A.4
Hershberger, R.5
Chatonnet, A.6
Patton, M.A.7
Crosby, A.H.8
-
31
-
-
28444437387
-
Traffic accidents: molecular genetic insights into the pathogenesis of the hereditary spastic paraplegias
-
Soderblom C., Blackstone C. Traffic accidents: molecular genetic insights into the pathogenesis of the hereditary spastic paraplegias. Pharmacol. Ther. 2006, 109:42-56.
-
(2006)
Pharmacol. Ther.
, vol.109
, pp. 42-56
-
-
Soderblom, C.1
Blackstone, C.2
-
32
-
-
0037168428
-
SPG3A: an additional family carrying a new atlastin mutation
-
Tessa A., Casali C., Damiano M., Bruno C., Fortini D., Patrono C., Cricchi F., Valoppi M., Nappi G., Amabile G.A., et al. SPG3A: an additional family carrying a new atlastin mutation. Neurology 2002, 59:2002-2005.
-
(2002)
Neurology
, vol.59
, pp. 2002-2005
-
-
Tessa, A.1
Casali, C.2
Damiano, M.3
Bruno, C.4
Fortini, D.5
Patrono, C.6
Cricchi, F.7
Valoppi, M.8
Nappi, G.9
Amabile, G.A.10
-
33
-
-
70349579493
-
The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signaling
-
Tsang H.T., Edwards T.L., Wang X., Connell J.W., Davies R.J., Durrington H.J., O'Kane C.J., Luzio J.P., Reid E. The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signaling. Hum. Mol. Genet. 2009, 18:3805-3821.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 3805-3821
-
-
Tsang, H.T.1
Edwards, T.L.2
Wang, X.3
Connell, J.W.4
Davies, R.J.5
Durrington, H.J.6
O'Kane, C.J.7
Luzio, J.P.8
Reid, E.9
-
34
-
-
33846631991
-
Drosophila spichthyin inhibits BMP signaling and regulates synaptic growth and axonal microtubules
-
Wang X., Shaw W.R., Tsang H.T., Reid E., O'Kane C.J. Drosophila spichthyin inhibits BMP signaling and regulates synaptic growth and axonal microtubules. Nat. Neurosci. 2007, 10:177-185.
-
(2007)
Nat. Neurosci.
, vol.10
, pp. 177-185
-
-
Wang, X.1
Shaw, W.R.2
Tsang, H.T.3
Reid, E.4
O'Kane, C.J.5
-
35
-
-
0242693281
-
The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene
-
Wharton S.B., McDermott C.J., Grierson A.J., Wood J.D., Gelsthorpe C., Ince P.G., Shaw P.J. The cellular and molecular pathology of the motor system in hereditary spastic paraparesis due to mutation of the spastin gene. J. Neuropathol. Exp. Neurol. 2003, 62:1166-1177.
-
(2003)
J. Neuropathol. Exp. Neurol.
, vol.62
, pp. 1166-1177
-
-
Wharton, S.B.1
McDermott, C.J.2
Grierson, A.J.3
Wood, J.D.4
Gelsthorpe, C.5
Ince, P.G.6
Shaw, P.J.7
-
36
-
-
0035184654
-
Mutation in a novel GTPase cause autosomal dominant hereditary spastic paraplegia
-
Zhao X.P., Alvarado D., Rainier S., Lemons R., Hedera P., Weber C.H., Tukel T., Apak M., Heiman-Patterson T., Ming L., et al. Mutation in a novel GTPase cause autosomal dominant hereditary spastic paraplegia. Nat. Genet. 2001, 29:326-331.
-
(2001)
Nat. Genet.
, vol.29
, pp. 326-331
-
-
Zhao, X.P.1
Alvarado, D.2
Rainier, S.3
Lemons, R.4
Hedera, P.5
Weber, C.H.6
Tukel, T.7
Apak, M.8
Heiman-Patterson, T.9
Ming, L.10
-
37
-
-
58149396830
-
Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its C. elegans homolog trigger neural degeneration in vitro and in vivo through a gain of function mechanism
-
Zhao J., Matthies D.S., Botzolakis E.J., Macdonald R.L., Blakely R.D., Hedera P. Hereditary spastic paraplegia-associated mutations in the NIPA1 gene and its C. elegans homolog trigger neural degeneration in vitro and in vivo through a gain of function mechanism. J. Neurosci. 2008, 28:13938-13951.
-
(2008)
J. Neurosci.
, vol.28
, pp. 13938-13951
-
-
Zhao, J.1
Matthies, D.S.2
Botzolakis, E.J.3
Macdonald, R.L.4
Blakely, R.D.5
Hedera, P.6
-
38
-
-
0742281520
-
Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin
-
Zhu P.P., Patterson A., Lavoie B., Stadler J., Shoeb M., Patel R., Blackstone C. Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin. J. Biol. Chem. 2003, 278:49063-49071.
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 49063-49071
-
-
Zhu, P.P.1
Patterson, A.2
Lavoie, B.3
Stadler, J.4
Shoeb, M.5
Patel, R.6
Blackstone, C.7
-
39
-
-
33645834754
-
SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development
-
Zhu P.P., Soderblom C., Tao-Cheng J.H., Stadler J., Blackstone C. SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development. Hum. Mol. Genet. 2006, 15:1343-1353.
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 1343-1353
-
-
Zhu, P.P.1
Soderblom, C.2
Tao-Cheng, J.H.3
Stadler, J.4
Blackstone, C.5
-
40
-
-
34447543943
-
The genetics of hereditary spastic paraplegia and implications for drug therapy
-
Züchner S. The genetics of hereditary spastic paraplegia and implications for drug therapy. Expert Opin. Pharmacother. 2007, 8:1433-1439.
-
(2007)
Expert Opin. Pharmacother.
, vol.8
, pp. 1433-1439
-
-
Züchner, S.1
|