Pathophysiology of neurodegeneration in familial amyotrophic lateral sclerosis

Current Molecular Medicine

Volumn 9, Issue 3, 2009, Pages 255-272

  Vucic, Steve ^a   Kiernan, Matthew C ^a  

^a UNIVERSITY OF NEW SOUTH WALES   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM); ALPHA AMINO 3 HYDROXY 5 METHYL 4 ISOXAZOLEPROPIONIC ACID; ALSIN; ANGIOGENIN; BRAIN PROTEIN; CILIARY NEUROTROPHIC FACTOR; COPPER ZINC SUPEROXIDE DISMUTASE; CYTOCHROME C OXIDASE; CYTOKINE; GLUTAMIC ACID; GUANINE NUCLEOTIDE EXCHANGE FACTOR; HEMOCHROMATOSIS PROTEIN; INOSITOL 1,4,5 TRISPHOSPHATE RECEPTOR; INOSITOL 1,4,5 TRISPHOSPHATE RECEPTOR 2; KINSEIN; MENDELIAN PROTEIN; N METHYL DEXTRO ASPARTIC ACID; N METHYL DEXTRO ASPARTIC ACID RECEPTOR; NEUROFILAMENT PROTEIN; NITRIC OXIDE; PERIPHERIN; RILUZOLE; SENATAXIN; SURVIVAL MOTOR NEURON PROTEIN; TAR DNA BINDING PROTEIN; TAU PROTEIN; UBIDECARENONE; UNCLASSIFIED DRUG; VASCULOTROPIN;

AMYOTROPHIC LATERAL SCLEROSIS; AMYOTROPHIC LATERAL SCLEROSIS 1; AMYOTROPHIC LATERAL SCLEROSIS 10; AMYOTROPHIC LATERAL SCLEROSIS 2; AMYOTROPHIC LATERAL SCLEROSIS 3; AMYOTROPHIC LATERAL SCLEROSIS 4; AMYOTROPHIC LATERAL SCLEROSIS 5; AMYOTROPHIC LATERAL SCLEROSIS 6; AMYOTROPHIC LATERAL SCLEROSIS 7; AMYOTROPHIC LATERAL SCLEROSIS 8; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CLINICAL TRIAL; DISEASE DURATION; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DRUG EFFICACY; DRUG MEGADOSE; DRUG SAFETY; ENZYME ACTIVITY; EXCITOTOXICITY; FAMILIAL AMYOTROPHIC LATERAL SCLEROSIS; FAMILIAL DISEASE; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENETIC LINKAGE; HETEROZYGOSITY; HUMAN; IRON METABOLISM; MISSENSE MUTATION; NERVE DEGENERATION; NERVE FIBER TRANSPORT; NEUROPATHOLOGY; NEUROPROTECTION; NEUROTRANSMISSION; NONHUMAN; ONSET AGE; OXIDATIVE STRESS; PARKINSON DISEASE; PROTEIN STABILITY; REVIEW;

AMYOTROPHIC LATERAL SCLEROSIS; ANIMALS; CILIARY NEUROTROPHIC FACTOR; GLUTAMIC ACID; HUMANS; INTERMEDIATE FILAMENT PROTEINS; MEMBRANE GLYCOPROTEINS; MITOCHONDRIA; MOTOR NEURONS; MUTATION; NERVE DEGENERATION; NERVE TISSUE PROTEINS; NEUROFILAMENT PROTEINS; RIBONUCLEASE, PANCREATIC; SODIUM-POTASSIUM-EXCHANGING ATPASE; SUPEROXIDE DISMUTASE; SURVIVAL OF MOTOR NEURON 1 PROTEIN; VASCULAR ENDOTHELIAL GROWTH FACTOR A;

EID: 65649103331     PISSN: 15665240     EISSN: None     Source Type: Journal    
DOI: 10.2174/156652409787847173     Document Type: Review

References (294)

1. Charcot, J. and Joffroy, A. (1869) Arch. Physiol. Neurol. Pathol., 2, 744-754.
2. Brooks, B.R., Miller, R.G., Swash, M. and Munsat, T.L. (2000) Amyotroph Lateral Scler Other Motor Neuron Disord, 1, 293-299.
3. Rowland, L.P. (1998) J. Neurol. Sci., 160(Suppl 1), S6-24.
4. Rocha, J.A., Reis, C., Simoes, F., Fonseca, J. and Mendes Ribeiro, J. (2005) J. Neurol., 252, 1435-1447.
5. Francis, K., Bach, J.R. and DeLisa, J.A. (1999) Arch. Phys. Med. Rehabil., 80, 951-963.
6. Talbot, K. (2002) Postgrad. Med. J., 78, 513-519.
7. Lechtzin, N., Rothstein, J., Clawson, L., Diette, G.B., Wiener, C.M. (2002) Amyotroph Lateral Scler Other Motor Neuron Disord., 3, 5-13.
8. Houseman, G. and Kelley, M. (2005) J. Neurosci. Nurs., 37, 216-218.
9. Scelsa, S.N., Yakubov, B. and Salzman, S.H. (2002) Amyotroph. Lateral Scler. Other Motor Neuron Disord., 3, 239-243.
10. Czaplinski, A., Strobel, W., Gobbi, C., Steck, A.J., Fuhr, P. and Leppert, D. (2003) Med. Sci. Monit., 9, CS34-36.
11. Hosler. B.A., Siddique, T., Sapp, P.C., Sailor, W., Huang, M.C., Hossain, A., Daube, J.R., Nance, M., Fan, C., Kaplan, J., Hung, W.Y., McKenna-Yasek, D., Haines, J.L., Pericak-Vance, M.A., Horvitz, H.R. and Brown, R.H.Jr. (2000) JAMA, 284, 1664 1669.
12. Pinsky, L., Finlayson, M., Libman, I. and Scott, B. (1975) Clin. Genet., 7, 186-191.
13. Traynor, B.J., Codd, M.B., Corr, B., Forde, C., Frost, E. and Hardiman, O. (1999) Neurology, 52, 504-509.
14. Seljeseth, Y.M., Vollset, S.E. and Tysnes, O.B. (2000), Neurology, 55, 1262-1266.
15. Kiernan, M. (2003) Med. J. Aust., 178, 311-312.
16. Chancellor, A.M. and Warlow, C.P. (1992) J. Neurol. Neurosurg. Psychiatry, 55, 1106-1115.
17. Mandrioli, J., Faglioni, P., Merelli, E. and Sola, P. (2003) Neurology, 60, 683-689.
18. Nelson, L., McGuire, D. Epidemiology of amyotrophic lateral sclerosis, 2nd ed.; Swash M, Pasinelli P (Eds), Informa Healthcare, London, UK 2006; pp. 335-356.
19. Sorenson, E.J., Stalker, A.P., Kurland, L.T. and Windebank, A.J. (2002) Neurology, 59, 280-282.
20. Gros-Louis, F., Gaspar, C. and Rouleau, G.A. (2006) Biochim. Biophys. Acta, 1762, 956-972.
21. Boillee, S., Vande Velde, C. and Cleveland, D.W. (2006) Neuron, 52, 39-59.
22. Pasinelli, P. and Brown, R.H. (2006) Nat. Rev. Neurosci., 7, 710-723.
23. Patel, S.A. and Maragakis, N.J. (2002) J. Spinal Cord Med., 25, 262-273.
24. Neusch, C., Bahr, M. and Schneider-Gold, C. (2007) Muscle Nerve, 35, 712-724.
25. Gonzalez de Aguilar, J.L., Echaniz-Laguna, A., Fergani, A., Rene, F., Meininger, V., Loeffler, J.P. and Dupuis, L. (2007) J. Neurochem., 101, 1153-1160.
26. Dunckley. T., Huentelman, M.J., Craig, D.W., Pearson, J.V., Szelinger, S., Joshipura, K., Halperin, R.F., Stamper, C., Jensen, K.R., Letizia, D., Hesterlee, S.E., Pestronk, A., Levine, T., Bertorini, T., Graves, M.C., Mozaffar, T., Jackson, C.E., Bosch, P., McVey, A., Dick, A., Barohn, R., Lomen-Hoerth, C., Rosenfeld, J., O'Connor, D.T., Zhang, K., Crook, R., Ryberg, H., Hutton, M., Katz, J., Simpson, E.P., Mitsumoto, H., Bowser, R., Miller, R.G., Appel, S.H. and Stephan, D.A. (2007) N. Engl. J. Med., 357, 775-788.
27. Rosen, D.R., Siddique, T., Patterson, D., Figlewicz, D.A., Sapp, P., Hentati, A., Donaldson, D., Goto, J., O'Regan, J.P., Deng, H.X., Rahmani, Z., Krizus, A., Mckenna-yasek, D., Cayabyab, A., Gaston, S.M., Berger, R., Tanzi, R.E., Halperin, J.J., Herzfeldt, B., Van den bergh, R., Hung, W., Bird, T., Deng, G., Mulder, D.W., Smyth, C., Laing, N.G., Soriano, E., Pericak-vance, M.A., Haines, J., Rouleau, G.A., Gusella, J.S., Horvitz, H.R., Brown, R.H. (1993) Nature, 362, 59-62.
28. Siddique, T., Figlewicz, D.A., Pericak-Vance, M.A., Haines, J.L., Rouleau, G., Jeffers, A.J., Sapp, P., Hung, W.Y., Bebout, J., McKenna-Yasek, D., Deng, G., Horvitz, H.R., Gusella, J.F., Brown, R.H., Roses, A.D. (1991) N. Engl. J. Med., 324, 1381-1384.
29. Andersen, P. (2006) Informa Healthcare, 187-207.
30. Cudkowicz, M.E., McKenna-Yasek, D., Sapp, P.E., Chin, W., Geller, B., Hayden, D.L., Schoenfeld, D.A., Hosler, B.A., Horvitz, H.R. and Brown, R.H. (1997) Ann. Neurol., 41, 210-221.
31. Orrell, R.W., Habgood, J.J., Gardiner, I., King, A.W., Bowe, F.A., Hallewell, R.A., Marklund, S.L., Greenwood, J., Lane, R.J., deBelleroche, J. (1997) Neurology, 48, 746-751.
32. Shaw, C.E., Enayat, Z.E., Chioza, B.A., Al-Chalabi, A., Radunovic, A., Powell, J.F. and Leigh, P.N. (1998) Ann. Neurol., 43, 390-394.
33. Levanon, D., Lieman-Hurwitz, J., Dafni, N., Wigderson, M., Sherman, L., Bernstein, Y., Laver-Rudich, Z., Danciger, E., Stein, O. and Groner, Y. (1985) EMBO J., 4, 77-84.
34. Shaw, P. and Kuncl, R. (2002) Motor. Neuron Dis., 37-73.
35. Fridovich, I. Adv. Enzymol. Relat. (1986) Areas Mol. Biol., 58, 61-97.
36. Shaw P, Kuncl R. Current concepts in the pathogenesis of ALS. In: WR K, Ed. Motor Neuron Disease. Lodon: WB Saunders, 2002: 37-73.
37. Pardo, C.A., Xu, Z., Borchelt, D.R., Price, D.L., Sisodia, S.S. and Cleveland, D.W. (1995) Proc. Natl. Acad. Sci. USA, 92, 954-958.
38. Dewil, M., Andersen, P., Van Den Bosch, L. and Robberecht, W. (2004) Clin. Neurophysiol. Motor Neuron Dis., 169-186.
39. Hand, C.K., Mayeux-Portas, V., Khoris, J., Briolotti, V., Clavelou, P., Camu, W. and Rouleau, G.A. (2001) Ann. Neurol., 49, 267-271.
40. Radunovic, A. and Leigh, P.N. (1996) J. Neurol. Neurosurg. Psychiatry, 61, 565-572.
41. Andersen, P.M. (2006) Curr. Neurol. Neurosci. Rep., 6, 37-46.
42. Andersen, P.M., Sims, K.B., Xin, W.W., Kiely, R., O'Neill, G., Ravits, J., Pioro, E., Harati, Y., Brower, R.D., Levine, J.S., Heinicke, H.U., Seltzer, W., Boss, M., Brown, R.H.Jr. (2003) Amyotroph Lateral Scler. Other Motor Neuron Disord., 4, 62-73.
43. Robberecht, W. (2002) Motor. Neuron Dis., 75-95.
44. Suthers, G., Laing, N., Wilton, S., Dorosz, S. and Waddy, H. (1994) Lancet, 344, 1773.
45. Jones, C.T., Swingler, R.J., Simpson, S.A. and Brock, D.J. (1995) J. Med. Genet., 32, 290-292.
46. Ikeda, M., Abe, K., Aoki, M., Ogasawara, M., Kameya, T., Watanabe, M., Shoji, M., Hirai, S. and Itoyama, Y. (1995) Hum. Mol. Genet., 4, 491-492.
47. Kawamata, J., Shimohama, S., Takano, S., Harada. K., Ueda, K. and Kimura, J. (1997) Hum. Mutat., 9, 356-358.
48. Andersen, P.M., Forsgren, L., Binzer, M., Nilsson, P., Ala-Hurula, V., Keranen, M.L., Bergmark, L., Saarinen, A., Haltia, T., Tarvainen, I., Kinnunen, E., Udd, B. and Marklund, S.L. (1996) Brain, 119, 1153-1172.
49. Andersen, P.M., Nilsson, P., Keranen, M.L., Forsgren, L., Hagglund, J., Karlsborg, M., Ronnevi, L.O., Gredal, O. and Marklund, S.L. (1997) Brain, 120(Pt 10), 1723- 1737.
50. Aoki, M., Ogasawara, M., Matsubara, Y., Narisawa, K., Nakamura, S., Itoyama, Y. and Abe, K. (1994) J. Neurol. Sci., 126, 77-83.
51. Ohi, T., Saita, K., Takechi, S., Nabesima, K., Tashiro, H., Shiomi, K., Sugimoto, S., Akematsu, T., Nakayama, T., Iwaki, T., Matsukura, S. (2002) J. Neurol. Sci., 197, 73-78.
52. Abe, K., Aoki, M., Ikeda, M., Watanabe, M., Hirai, S., Itoyama, Y. (1996) J. Neurol. Sci., 136, 108-116.
53. Aoki, M., Ogasawara, M., Matsubara, Y., Narisawa, K., Nakamura, S., Itoyama, Y. and Abe, K. (1993) Nat. Genet., 5, 323-324.
54. Juneja, T., Pericak-Vance, M.A., Laing, N.G., Dave, S. and Siddique, T. (1997) Neurology, 4, 55-57.
55. Al-Chalabi, A., Andersen, P.M., Chioza, B., Shaw, C., Sham, P.C., Robberecht, W., Matthijs, G., Camu, W., Marklund, S.L., Forsgren, L., Rouleau, G., Laing, N.G., Hurse, P.V., Siddique, T., Leigh, P.N. and Powell, J.F. (1998) Hum. Mol. Genet., 7, 2045-2050.
56. Simpson, C. and Al-Chalabi, A. (2006) Informa Helathcare, 209-224.
57. Bruijn, L.I., Beal, M.F., Becher, M.W., Schulz, J.B., Wong, P.C., Price, D.L. and Cleveland, D.W. (1997) Proc. Natl. Acad. Sci. USA, 94, 7606-7611.
58. Gurney, M.E., Pu, H., Chiu, A.Y., Dal Canto, M.C., Polchow, C.Y., Alexander, D.D., Caliendo, J., Hentati, A., Kwon, Y.W., Deng, H.X. et al. (1994) Science, 264, 1772-1775.
59. Ripps, M.E., Huntley, G.W., Hof, P.R., Morrison, J.H. and Gordon, J.W. (1995) Proc. Natl. Acad. Sci. USA, 92, 689-693.
60. Wong, P.C., Pardo, C.A., Borchelt, D.R., Lee, M.K., Copeland, N.G., Jenkins, N.A., Sisodia, S.S., Cleveland, D.W. and Price, D.L. (1995) Neuron, 14, 1105-1116.
61. Reaume, A.G., Elliott, J.L., Hoffman, E.K., Kowall, N.W., Ferrante, R.J., Siwek, D.F., Wilcox, H.M., Flood, D.G., Beal, M.F., Brown, R.H.Jr., Scott, R.W. and Snider, W.D. (1996) Nat. Genet., 13, 43-47.
62. Bruijn, L.I., Houseweart, M.K., Kato, S., Anderson, K.L., Anderson, S.D., Ohama, E., Reaume, A.G., Scott, R.W. and Cleveland, D.W. (1998) Science, 281, 1851-1854.
63. Bruijn, L.I., Miller, T.M. and Cleveland, D.W. (2004) Annu. Rev. Neurosci., 27, 723-749.
64. Beckman, J.S., Carson, M., Smith, C.D. and Koppenol, W.H. (1993) Nature, 364, 584.
65. Andrus, P.K., Fleck, T.J., Gurney, M.E. and Hall, E.D. (1998) J. Neurochem., 71, 2041-2048.
66. Bogdanov, M.B., Ramos, L.E., Xu, Z. and Beal, M.F. (1998) J. Neurochem., 71, 1321-1324.
67. Liu, R., Althaus, J.S., Ellerbrock, B.R., Becker, D.A., Gurney, M.E. (1998) Ann. Neurol., 44, 763-770.
68. Beckman, J.S., Koppenol, W.H. (1996) Am. J. Physiol., 271, 1424-1437.
69. Crow, J.P., Sampson, J.B., Zhuang, Y., Thompson, J.A., Beckman, J.S. (1997) J. Neurochem., 69, 1936-1944.
70. Abe, K., Pan, L.H., Watanabe, M., Konno, H., Kato, T. and Itoyama, Y. (1997) Neurol. Res., 19, 124-128.
71. Chou, S.M., Wang, H.S. and Taniguchi, A. (1996) J. Neurol. Sci., 139(Suppl), 16-26.
72. Beal, M.F., Ferrante, R.J., Browne, S.E., Matthews, R.T., Kowall, N.W., Brown, R.H.Jr. (1997) Ann. Neurol., 42, 644-654.
73. Ferrante, R.J., Shinobu, L.A., Schulz, J.B., Matthews, R.T., Thomas, C.E., Kowall, N.W., Gurney, M.E., Beal, M.F. (1997) Ann. Neurol., 42, 326-334.
74. Estevez, A.G., Crow, J.P., Sampson, J.B., Reiter, C., Zhuang, Y., Richardson, G.J., Tarpey, M.M., Barbeito, L. and Beckman, J.S. (1999) Science, 286, 2498-2500.
75. Hensley, K., Mhatre, M., Mou, S., Pye, Q.N., Stewart, C., West, M., Williamson, K.S. (2006) Antioxid. Redox. Signal., 8, 2075-2087.
76. Kim, Y.S., Martinez, T., Deshpande, D.M., Drummond, J., Provost-Javier, K., Williams, A., McGurk, J., Maragakis, N., Song, H., Ming, G.L. and Kerr, D.A. (2006) Ann. Neurol., 60, 716-728.
77. Jonsson, P.A., Graffmo, K.S., Brannstrom, T., Nilsson, P., Andersen, P.M. and Marklund, S.L. (2006) J. Neuropathol. Exp. Neurol., 65, 1126-1136.
78. Zetterstrom, P., Stewart, H.G., Bergemalm, D., Jonsson, P.A., Graffmo, K.S., Andersen, P.M., Brannstrom, T., Oliveberg, M., Marklund, S.L. (2007) Proc. Natl. Acad. Sci. USA, 104, 14157-14162.
79. Williamson, T.L. and Cleveland, D.W. (1999) Nat. Neurosci., 2, 50-56.
80. Watkins, J.C. and Evans, R.H. (1981) Annu. Rev. Pharmacol. Toxicol., 21, 165-204.
81. Heath, P.R., Shaw, P.J. (2002) Muscle Nerve, 26, 438-458.
82. Watkins, J.C., Evans, R.H. (1981) Annu. Rev. Pharmacol. Toxicol., 21, 165-204.
83. Vandenberg, R.J. (1998) Clin. Exp. Pharmacol. Physiol., 25, 393-400.
84. Trotti, D., Rolfs, A., Danbolt, N.C., Brown, R.H.Jr. and Hediger, M.A. (1999) Nat. Neurosci., 2, 848.
85. Rothstein, J.D., Jin, L., Dykes-Hoberg, M. and Kuncl, R.W. (1993) Proc. Natl. Acad. Sci. USA, 90, 6591-6595.
86. Ionov, I.D. (2007) Amyotroph Lateral Scler., 8, 260-265.
87. Rothstein, J.D., Van Kammen, M., Levey, A.I., Martin, L.J. and Kuncl, R.W. (1995) Ann. Neurol., 38, 73-84.
88. Bruijn, L.I., Becher, M.W., Lee, M.K., Anderson, K.L., Jenkins, N.A., Copeland, N.G., Sisodia, S.S., Rothstein, J.D., Borchelt, D.R., Price, D.L. and Cleveland, D.W. (1997) Neuron, 18, 327-338.
89. Canton, T., Pratt, J., Stutzmann, J.M., Imperato, A. and Boireau, A. (1998) Neuroreport, 9, 775-778.
90. Gibb, S.L., Boston-Howes, W., Lavina, Z.S., Gustincich, S., Brown, R.H.Jr., Pasinelli, P. and Trotti, D. (2007) J. Biol. Chem., 282, 32480-32490.
91. Boston-Howes, W., Gibb, S.L., W) illiams, E.O., Pasinelli, P., Brown, R.H.Jr. and Trotti, D. (2006) J. Biol. Chem., 281, 14076-14084.
92. Guo, H., Lai, L., Butchbach, M.E., Stockinger, M.P., Shan, X., Bishop, G.A. and Lin, C.L. (2003) Hum. Mol. Genet., 12, 2519-2532.
93. Simeone, T.A., Sanchez, R.M. and Rho, J.M. (2004) J. Child Neurol., 19, 343-360.
94. Kawahara, Y., Ito, K., Sun, H., Aizawa, H., Kanazawa, I. and Kwak, S. (2004) Nature, 427, 801.
95. Kwak, S. and Kawahara, Y. (2005) J. Mol. Med., 83, 110-120.
96. Takuma, H., Kwak, S., Yoshizawa, T. and Kanazawa, I. (1999) Ann. Neurol., 46, 806-815.
97. Van Damme, P., Braeken, D., Callewaert, G., Robberecht, W. and Van Den Bosch, L. (2005) J. Neuropathol. Exp. Neurol., 64, 605-612.
98. Van Damme, P., Van Den Bosch, L., Van Houtte, E., Callewaert, G. and Robberecht, W. (2002) J. Neurophysiol., 88, 1279-1287.
99. Donevan, S.D. and Rogawski, M.A. (1995) Proc. Natl. Acad. Sci. USA, 92, 9298-9302.
100. Williams, T.L., Day, N.C., Ince, P.G., Kamboj, R.K. and Shaw, P.J. (1997) Ann. Neurol., 42, 200-207.
101. Bensimon, G., Lacomblez, L. and Meininger, V. (1994) N. Engl. J. Med., 330, 585-591.
102. Lacomblez, L., Bensimon, G., Leigh, P.N., Guillet, P. and Meininger, V. (1996) Lancet, 347, 1425-1431.
103. Gurney, M.E., Cutting, F.B., Zhai, P., Doble, A., Taylor, C.P., Andrus, P.K. and Hall, E.D. (1996) Ann. Neurol., 39, 147-157.
104. Gurney, M.E., Fleck, T.J., Himes, C.S. and Hall, E.D. (1998) Neurology, 50, 62-66.
105. Hebert, T., Drapeau, P., Pradier, L. and Dunn, R.J. (1994) Mol. Pharmacol., 45, 1055-1060.
106. Alexianu, M.E., Ho, B.K., Mohamed, A.H., La Bella, V., Smith, R.G. and Appel, S.H. (1994) Ann. Neurol., 36, 846-858.
107. Ince, P., Stout, N., Shaw, P., Slade, J., Hunziker, W., Heizmann, C.W. (1993) Neuropathol. Appl. Neurobiol., 19, 291-299.
108. van Es, M.A., van Vught, P.W., Blauw, H.M., Franke, L., Saris, C.G., Andersen, P.M., Van Den Bosch, L., de Jong, S.W., van 't Slot, R., Birve, A., Lemmens, R., de Jong, V., Baas, F., Schelhaas, H.J., Sleegers, K., Van Broeckhoven, C., Wokke, J.H., Wijmenga, C., Robberecht, W., Veldink, J.H., Ophoff, R.A., van den Berg, L.H. (2007) Lancet Neurol., 6, 869-877.
109. Choe, C.U. and Ehrlich, B.E. (2006) Sci. STKE, re15.
110. Gutstein, D.E. and Marks, A.R. (1997) Heart Vessels, (Suppl 12), 53-57.
111. Choi, D.W. (1987) J. Neurosci., 7, 369-379.
112. Stys, P.K. (1998) J. Cereb. Blood Flow Metab., 18, 2-25.
113. Miller, R.J., Murphy, S.N. and Glaum, S.R. (1989) Ann. N. Y. Acad. Sci., 568, 149-158.
114. Meldrum, B. and Garthwaite, J. (1990) Trends Pharmacol. Sci., 11, 379-387.
115. Regan, R.F., Panter, S.S., Witz, A., Tilly, J.L. and Giffard, R.G. (1995) Brain Res., 705, 188-198.
116. Bondy, S.C. and Lee, D.K. (1993) Brain Res., 610, 229-233.
117. Lees, G.J. (1993) Neuroscience, 54, 287-322.
118. Maher, P. and Davis, J.B. (1996) J. Neurosci., 16, 6394-6401.
119. Eisen, A., Kim, S., Pant, B. (1992) Muscle Nerve, 15, 219-224.
120. Caramia, M.D., Cicinelli, P., Paradiso, C., Mariorenzi, R., Zarola, F., Bernardi, G. and Rossini, P.M. (1991) Electroencephalogr. Clin. Neurophysiol., 81, 243-250.
121. Eisen, A., Pant, B. and Stewart, H. (1993) Can. J. Neurol. Sci., 20, 11-16.
122. Prout, A.J. and Eisen, A. (1994) Muscle Nerve, 17, 217-223.
123. Desiato, M., Bernardi, G., Hagi, A.H., Boffa, L. and Caramia, M.D. Clin. (2002) Neurophysiol., 113, 132-140.
124. Mills, K. (2003) Brain, 126, 2558-2566.
125. Zanette, G., Tamburin, S., Manganotti, P., Refatti, N., Forgione, A. and Rizzuto, (2002) N. Clin. Neurophysiol., 113, 1688-1697.
126. Ziemann, U., Winter, M., Reimers, C.D., Reimers, K., Tergau, F. and Paulus, W. (1997) Neurology, 49, 1292-1298.
127. Vucic, S., Howells, J., Trevillion, L. and Kiernan, M.C. (2006) Muscle Nerve, 33, 477-486.
128. Vucic, S. and Kiernan, M. (2008) Brain, 131, 1540-1550.
129. Ziemann, U. (2004) Clinical Neurophysiology of Motor Neuron Diseases, 317-335.
130. Ziemann, U., Rothwell, J.C. and Ridding, M.C. (1996) J. Physiol., 496, 873-881.
131. Ziemann, U. and Eisen, A. (2004) Clin. Neurophysiol., 115, 1237-1238.
132. Nihei, K., McKee, A.C., Kowall, N.W. (1993) Acta Neuropathol., 86, 55-64.
133. Stefan, K., Kunesch, E., Benecke, R. and Classen, J. (2001) Ann. Neurol., 49, 536-539.
134. Browne, S.E., Yang, L., DiMauro, J.P., Fuller, S.W., Licata, S.C. and Beal, M.F. (2006) Neurobiol. Dis., 22, 599-610.
135. Kennedy, W.R., Alter, M. and Sung, J.H. (1968) Neurology, 18, 671-680.
136. La Spada, A.R., Wilson, E.M., Lubahn, D.B., Harding, A.E. and Fischbeck, K.H. (1991) Nature, 352, 77-79.
137. Hu, M.T., Ellis, C.M., Al-Chalabi, A., Leigh, P.N. and Shaw, C.E. J. Neurol. (1998) Neurosurg. Psychiatry, 65, 950-951.
138. Vucic, S. and Kiernan, M.C. (2005) Amyotroph. Lateral Scler. Other Motor Neuron Disord., 6, 125.
139. Bowling, A.C. and Beal, M.F. (1995) Life Sci., 56, 1151-1171.
140. Dugan, L.L. and Choi, D.W. (1994) Ann. Neurol., 35, S17-21.
141. Dykens, J.A. (1994) J. Neurochem., 63, 584-591.
142. Lederer, C.W., Torrisi, A., Pantelidou, M., Santama, N. and Cavallaro, S. BMC (2007) Genomics, 8, 26.
143. Wiedemann, F.R., Manfredi, G., Mawrin, C., Beal, M.F. and Schon, E.A. (2002) J. Neurochem., 80, 616-625.
144. Sasaki, S. and Iwata, M. (2007) J. Neuropathol. Exp. Neurol., 66, 10-16.
145. Fujita, K., Yamauchi, M., Shibayama, K., Ando, M., Honda, M. and Nagata, Y. (1996) J. Neurosci. Res., 45, 276-281.
146. Jung, C., Higgins, C.M. and Xu, Z. (2002) J. Neurochem., 83, 535-545.
147. Kirkinezos, I.G., Bacman, S.R., Hernandez, D., Oca-Cossio, J., Arias, L.J., Perez- Pinzon, M.A., Bradley, W.G. and Moraes, C.T. (2005) J. Neurosci., 25, 164-172.
148. Takeuchi, H., Kobayashi, Y., Ishigaki, S., Doyu, M. and Sobue, G. (2002) J. Biol. Chem., 277, 50966-50972.
149. Higgins, C.M., Jung, C. and Xu, Z. (2003) BMC Neurosci., 4, 16.
150. Liu, J., Lillo, C., Jonsson, P.A., Vande Velde, C., Ward, C.M., Miller, T.M., Subramaniam, J.R., Rothstein, J.D., Marklund, S., Andersen, P.M., Brannstrom, T., Gredal, O., Wong, P.C., Williams, D.S. and Cleveland, D.W. (2004) Neuron, 43, 5-17.
151. Matthews, R.T., Yang, L., Browne, S., Baik, M. and Beal, M.F. (1998) Proc. Natl. Acad. Sci. USA, 95, 8892-8897.
152. Ferrante, K.L., Shefner, J., Zhang, H., Betensky, R., O'Brien, M., Yu, H., Fantasia, M., Taft, J., Beal, M.F., Traynor, B., Newhall, K., Donofrio, P., Caress, J., Ashburn, C., Freiberg, B., O'Neill, C., Paladenech, C., Walker, T., Pestronk, A., Abrams, B., Florence, J., Renna, R., Schierbecker, J., Malkus, B. and Cudkowicz, M. (2005) Neurology, 65, 1834-1836.
153. Traynor, B.J., Bruijn, L., Conwit, R., Beal, F., O'Neill, G., Fagan, S.C. and Cudkowicz, M.E. (2006) Neurology, 67, 20-27.
154. Green, D.R. and Reed, J.C. (1998) Science, 281, 1309-1312.
155. Guegan, C. and Przedborski, S. (2003) J. Clin. Invest., 111, 153-161.
156. Yoshiyama, Y., Yamada, T., Asanuma, K., Asahi, T. (1994) Acta Neuropathol., 88, 207-211.
157. Vukosavic, S., Stefanis, L., Jackson-Lewis, V., Guegan, C., Romero, N., Chen, C., Dubois-Dauphin, M. and Przedborski, S. (2000) J. Neurosci., 20, 9119-9125.
158. Ohta, Y., Kamiya, T., Nagai, M., Nagata, T., Morimoto, N., Miyazaki, K., Murakami, T., Kurata, T., Takehisa, Y., Ikeda, Y., Asoh, S., Ohta, S. and Abe, K. J. (2008) Neurosci. Res., 86, 3028-3037.
159. Pasinelli, P., Belford, M.E., Lennon, N., Bacskai, B.J., Hyman, B.T., Trotti, D. and Brown, R.H.Jr. (2004) Neuron, 43, 19-30.
160. Fischer, L.R., Culver, D.G., Tennant, P., Davis, A.A., Wang, M., Castellano- Sanchez, A., Khan, J., Polak, M.A. and Glass, J.D. (2004) Exp. Neurol., 185, 232-240.
161. Gould, T.W., Buss, R.R., Vinsant, S., Prevette, D., Sun, W., Knudson, C.M., Milligan, C.E. and Oppenheim, R.W. (2006) J. Neurosci., 26, 8774-8786.
162. Koester, J. (1991) Principle Neural Sci., 81-94.
163. Thomas, R.C. (1972) Physiol. Rev., 52, 563-594.
164. Grafe, P., Bostock, H. and Schneider, U. (1994) J. Physiol., 480, 297-307.
165. Kaji, R. and Sumner, A.J. (1989) Neurology, 39, 1364-1368.
166. Ritchie, J.M. and Straub, R.W. (1957) J. Physiol., 13, 6-7P.
167. Felts, P.A., Kapoor, R., Smith, K.J. (1995) Brain, 118, 1225-1231.
168. Bergmans, J. (1970) Vander.
169. Bostock, H., Bergmans, J. (1994) Brain, 117, 913-928.
170. Bostock, H., Grafe, P. (1985) J. Physiol (Lond), 365, 239-257.
171. Gordon, T.R., Kocsis, J.D. and Waxman, S.G. (1990) Neuroscience, 37, 829-837.
172. Burke, D., Mogyoros, I., Vagg, R. and Kiernan, M.C. (1998) Brain, 121, 1975-1983.
173. Vagg, R., Mogyoros, I., Kiernan, M.C. and Burke, D. (1998) J. Physiol. (Lond), 507, 919-925.
174. Ellis, D.Z., Rabe, J. and Sweadner, K.J. (2003) J. Neurosci., 23, 43-51.
175. Vucic, S., Krishnan, A.V. and Kiernan, M.C. (2007) J. Neurol. Neurosurg. Psychiatry, 78, 1202-1208.
176. Hirokawa, N. and Takemura, R. (2005) Nat. Rev. Neurosci., 6, 201-214.
177. Pilling, A.D., Horiuchi, D., Lively, C.M. and Saxton, W.M. (2006) Mol. Biol. Cell, 17, 2057-2068.
178. Sasaki, S., Iwata, M. (1996) Neurology, 47, 535-540.
179. Sasaki, S., Warita, H., Abe, K., Iwata, M. (2005) Acta Neuropathol. (Berl), 110, 48-56.
180. De Vos, K.J., Chapman, A.L., Tennant, M.E., Manser, C., Tudor, E.L, Lau, K.F., Brownlees, J., Ackerley, S., Shaw, P.J., McLoughlin, D.M., Shaw, C.E., Leigh, P.N., Miller, C.C., Grierson, A.J. (2007) Hum. Mol. Genet., 16, 2720-2728.
181. Borchelt, D.R., Wong, P.C., Becher, M.W., Pardo, C.A., Lee, M.K., Xu, Z.S., Thinakaran, G., Jenkins, N.A., Copeland, N.G., Sisodia, S.S., Cleveland, D.W., Price, D.L. and Hoffman, P.N. (1998) Neurobiol. Dis., 5, 27-35.
182. Murakami, T., Nagano, I., Hayashi, T., Manabe, Y., Shoji, M., Setoguchi, Y. and Abe, K. (2001) Neurosci. Lett., 308, 149-152.
183. Kieran, D., Hafezparast, M., Bohnert, S., Dick, J.R., Martin, J., Schiavo, G., Fisher, E.M. and Greensmith, L. (2005) J. Cell Biol., 169, 561-567.
184. Zhang, F., Strom, A.L., Fukada, K., Lee, S., Hayward, L.J., Zhu, H. (2007) J. Biol. Chem., 282, 16691-16699.
185. Ligon, L.A., LaMonte, B.H., Wallace, K.E., Weber, N., Kalb, R.G., Holzbaur, E.L. (2005) Neuroreport, 16, 533-536.
186. Teuchert, M., Fischer, D., Schwalenstoecker, B., Habisch, H.J., Bockers, T.M., Ludolph, A.C. (2006) Exp. Neurol., 198, 271-274.
187. Hand, C.K., Khoris, J., Salachas, F., Gros-Louis, F., Lopes, A.A., Mayeux-Portas, V., Brewer, C.G., Brown, R.H.Jr., Meininger, V., Camu, W. and Rouleau, G.A. (2002) Am. J. Hum. Genet., 70, 251-256.
188. Myrianthopoulos, N.C., Lane, M.H., Silberberg, D.H. and Vincent, B.L. (1964) Brain, 87, 589-608.
189. Chance, P.F., Rabin, B.A., Ryan, S.G., Ding, Y., Scavina, M., Crain, B., Griffin, J.W., Cornblath, D.R. (1998) Am. J. Hum. Genet., 62, 633-640.
190. Rabin, B.A., Griffin, J.W., Crain, B.J., Scavina, M., Chance, P.F., Cornblath, D.R. (1999) Brain, 122, 1539-1550.
191. De Jonghe, P., Auer-Grumbach, M., Irobi, J., Wagner, K., Plecko, B., Kennerson, M., Zhu, D., De Vriendt, E., Van Gerwen, V., Nicholson, G., Hartung, H.P. and Timmerman, V. (2002) Brain, 125, 1320-1325.
192. Chen, Y.Z., Bennett, C.L., Huynh, H.M., Blair, I.P., Puls, I., Irobi, J., Dierick, I., Abel, A., Kennerson, M.L., Rabin, B.A., Nicholson, G.A., Auer-Grumbach, M., Wagner, K., De Jonghe, P., Griffin, J.W., Fischbeck, K.H., Timmerman, V., Cornblath, D.R. and Chance, P.F. (2004) Am. J. Hum. Genet., 74, 1128-1135.
193. Moreira, M.C., Klur, S., Watanabe, M., Nemeth, A.H., Le Ber, I., Moniz, J.C., Tranchant, C., Aubourg, P., Tazir, M., Schols, L., Pandolfo, M., Schulz, J.B., Pouget, J., Calvas, P., Shizuka-Ikeda, M., Shoji, M., Tanaka, M., Izatt, L., Shaw, C.E., M'Zahem, A., Dunne, E., Bomont, P., Benhassine, T., Bouslam, N., Stevanin, G., Brice, A., Guimaraes, J., Mendonca, P., Barbot, C., Coutinho, P., Sequeiros, J., Durr, A., Warter, J.M. and Koenig, M. (2004) Nat. Genet., 36, 225-227.
194. Tanner, N.K. and Linder, P. (2001) Mol. Cell, 8, 251-262.
195. Grohmann, K., Schuelke, M., Diers, A., Hoffmann, K., Lucke, B., Adams, C., Bertini, E., Leonhardt-Horti, H., Muntoni, F., Ouvrier, R., Pfeufer, A., Rossi, R., Van Maldergem, L., Wilmshurst, J.M., Wienker, T.F., Sendtner, M., Rudnik-Schoneborn, S., Zerres, K. and Hubner, C. (2001) Nat. Genet., 29, 75-77.
196. Sapp, P.C., Hosler, B.A., McKenna-Yasek, D., Chin, W., Gann, A., Genise, H., Gorenstein, J., Huang, M., Sailer, W., Scheffler, M., Valesky, M., Haines, J.L., Pericak-Vance, M., Siddique, T., Horvitz, H.R. and Brown, R.H.Jr. (2003) Am. J. Hum. Genet., 73, 397-403.
197. Abalkhail, H., Mitchell, J., Habgood, J., Orrell, R. and de Belleroche, J. (2003) Am. J. Hum. Genet., 73, 383-389.
198. Ruddy, D.M., Parton, M.J., Al-Chalabi, A., Lewis, C.M., Vance, C., Smith, B.N., Leigh, P.N., Powell, J.F., Siddique, T., Meyjes, E.P., Baas, F., de Jong, V. and Shaw, C.E. (2003) Am. J. Hum. Genet., 73, 390-396.
199. Nishimura, A.L., Mitne-Neto, M., Silva, H.C., Oliveira, J.R., Vainzof, M. and Zatz, M. (2004) J. Med. Genet., 41, 315-320.
200. Nishimura, A.L., Mitne-Neto, M., Silva, H.C., Richieri-Costa, A., Middleton, S., Cascio, D., Kok, F., Oliveira, J.R., Gillingwater, T., Webb, J., Skehel, P. and Zatz, M. (2004) Am. J. Hum. Genet., 75, 822-831.
201. Nishimura, Y., Hayashi, M., Inada, H. and Tanaka, T. (1999) Biochem. Biophys. Res. Commun., 254, 21-26.
202. Foster, L.J., Weir, M.L., Lim, D.Y., Liu, Z., Trimble, W.S. and Klip, A. (2000) Traffic, 1, 512-521.
203. Soussan, L., Burakov, D., Daniels, M.P., Toister-Achituv, M., Porat, A., Yarden, Y., Elazar, Z. (1999) J. Cell Biol., 146, 301-311.
204. Kanekura, K., Nishimoto, I., Aiso, S. and Matsuoka, M. (2006) J. Biol. Chem., 281, 30223-30233.
205. Sreedharan, J., Blair, I.P., Tripathi, V.B., Hu, X., Vance, C., Rogelj, B., Ackerley, S., Durnall, J.C., Williams, K.L., Buratti, E., Baralle, F., de Belleroche, J., Mitchell, J.D., Leigh, P.N., Al-Chalabi, A., Miller, C.C., Nicholson, G. and Shaw, C.E. (2008) Science, 319, 1668-1672.
206. Kabashi, E., Valdmanis, P.N., Dion, P., Spiegelman, D., McConkey, B.J., Vande Velde, C., Bouchard, J.P., Lacomblez, L., Pochigaeva, K., Salachas, F., Pradat, P.F., Camu, W., Meininger, V., Dupre, N. and Rouleau, G.A. (2008) Nat. Genet., 40, 572-574.
207. Van Deerlin, V.M., Leverenz, J.B., Bekris, L.M., Bird, T.D., Yuan, W., Elman, L.B., Clay, D., Wood, E.M., Chen-Plotkin, A.S., Martinez-Lage, M., Steinbart, E., McCluskey, L., Grossman, M., Neumann, M., Wu, I.L., Yang, W.S., Kalb, R., Galasko, D.R., Montine, T.J., Trojanowski, J.Q., Lee, V.M., Schellenberg, G.D., Yu, C.E. (2008) Lancet Neurol., 7, 409-416.
208. Yokoseki, A., Shiga, A., Tan, C.F., Tagawa, A., Kaneko, H., Koyama, A., Eguchi, H., Tsujino, A., Ikeuchi, T., Kakita, A., Okamoto, K., Nishizawa, M., Takahashi, H. and Onodera, O. (2008) Ann. Neurol., 63, 538-542.
209. Buratti, E., Baralle, F.E. (2008) Front Biosci., 13, 867-878.
210. Gragg, G.W., Fogelson, M., Zwirecki, R. (1971) Birth Defects Orig. Artic. Ser., 222- 225.
211. Refsum, S., Skillicon, S. (1954) Neurology, 4, 40-47.
212. Hentati, A., Bejaoui, K., Pericak-Vance, M.A., Hentati, F., Speer, M.C., Hung, W.Y., Figlewicz, D.A., Haines, J., Rimmler, J., Ben Hamida, C., Brown, R.H., Siddique, T. (1994) Nat. Genet., 7, 425-428.
213. Yang, Y., Hentati, A., Deng, H.X., Dabbagh, O., Sasaki, T., Hirano, M., Hung, W.Y., Ouahchi, K., Yan, J., Azim, A.C., Cole, N., Gascon, G., Yagmour, A., Ben- Hamida, M., Pericak-Vance, M., Hentati, F., Siddique, T. (2001) Nat. Genet., 29, 160-165.
214. Hadano, S., Hand, C.K., Osuga, H., Yanagisawa, Y., Otomo, A., Devon, R.S., Miyamoto, N., Showguchi-Miyata, J., Okada, Y., Singaraja, R., Figlewicz, D.A., Kwiatkowski, T., Hosler, B.A., Sagie, T., Skaug, J., Nasir, J., Brown, R.H.Jr., Scherer, S.W., Rouleau, G.A., Hayden, M.R. and Ikeda, J.E. (2001) Nat. Genet., 29, 166-173.
215. Nagase, T., Kikuno, R., Nakayama, M., Hirosawa, M. and Ohara, O. (2000) DNA Res., 7, 273-281.
216. Otomo, A., Hadano, S., Okada, T., Mizumura, H., Kunita, R., Nishijima, H., Showguchi-Miyata, J., Yanagisawa, Y., Kohiki, E., Suga, E., Yasuda, M., Osuga, H., Nishimoto, T., Narumiya, S. and Ikeda, J.E. (2003) Hum. Mol. Genet., 12, 1671-1687.
217. Yamanaka, K., Miller, T.M., McAlonis-Downes, M., Chun, S.J. and Cleveland, D.W. (2006) Ann. Neurol., 60, 95-104.
218. Al-Chalabi, A., Hansen, V.K., Simpson, C.L., Xi, J., Hosler, B.A., Powell, J.F., McKenna-Yasek, D., Shaw, C.E., Leigh, P.N. and Brown, R.H.Jr. (2003) Neurogenetics, 4, 221-222.
219. Hand, C.K., Devon, R.S., Gros-Louis, F., Rochefort, D., Khoris, J., Meininger, V., Bouchard, J.P., Camu, W., Hayden, M.R. and Rouleau, G.A. (2003) Arch. Neurol., 60, 1768-1771.
220. Kanekura, K., Hashimoto, Y., Niikura, T., Aiso, S., Matsuoka, M. and Nishimoto, I. (2004) J. Biol. Chem., 279, 19247-19256.
221. Ostojic, J., Axelman, K., Lannfelt, L. and Froelich-Fabre, S. (2003) Neurosci. Lett., 340, 245-247.
222. Morita, M., Al-Chalabi, A., Andersen, P.M., Hosler, B., Sapp, P., Englund, E., Mitchell, J.E., Habgood, J.J., de Belleroche, J., Xi, J., Jongjaroenprasert, W., Horvitz, H.R., Gunnarsson, L.G. and Brown, R.H.Jr. (2006) Neurology, 66, 839-844.
223. Vance, C., Al-Chalabi, A., Ruddy, D., Smith, B.N., Hu, X., Sreedharan, J., Siddique, T., Schelhaas, H.J., Kusters, B., Troost, D., Baas, F., De Jong, V. and Shaw, C.E. (2006) Brain, 129, 868-876.
224. Lynch, T., Sano, M., Marder, K.S., Bell, K.L., Foster, N.L., Defendini, R.F., Sima, A.A., Keohane, C., Nygaard, T.G., Fahn, S. et al. (1994) Neurology, 44, 1878-1884.
225. Hutton, M., Lendon, C.L., Rizzu, P., Baker, M., Froelich, S., Houlden, H., Pickering-Brown, S., Chakraverty, S., Isaacs, A., Grover, A., Hackett, J., Adamson, J., Lincoln, S., Dickson, D., Davies, P., Petersen, R.C., Stevens, M., de Graaff, E., Wauters, E., van Baren, J., Hillebrand, M., Joosse, M., Kwon, J.M., Nowotny, P., Che, L.K., Norton, J., Morris, J.C., Reed, L.A., Trojanowski, J., Basun, H., Lannfelt, L., Neystat, M., Fahn, S., Dark, F., Tannenberg, T., Dodd, P.R., Hayward, N., Kwok, J.B., Schofield, P.R., Andreadis, A., Snowden, J., Craufurd, D., Neary, D., Owen, F., Oostra, B.A., Hardy, J., Goate, A., van Swieten, J., Mann, D., Lynch, T. and Heutink, P. (1998) Nature, 393, 702-705.
226. Clark, L.N., Poorkaj, P., Wszolek, Z., Geschwind, D.H., Nasreddine, Z.S., Miller, B., Li, D., Payami, H., Awert, F., Markopoulou, K., Andreadis, A., D'Souza, I., Lee, V.M., Reed, L., Trojanowski, J.Q., Zhukareva, V., Bird, T, Schellenberg, G. and Wilhelmsen, K.C. (1998) Proc. Natl. Acad. Sci. USA, 95, 13103-13107.
227. Andreadis, A., Brown, W.M. and Kosik, K.S. (1992) Biochemistry, 31, 10626-10633.
228. Andreadis, A. (2005) Biochim. Biophys. Acta, 1739, 91-103.
229. Hirokawa, N. (1994) Curr. Opin. Cell Biol., 6, 74-81.
230. Ebneth, A., Godemann, R., Stamer, K., Illenberger, S., Trinczek, B. and Mandelkow, E. (1998) J. Cell Biol., 143, 777-794.
231. Stamer, K., Vogel, R., Thies, E., Mandelkow, E., Mandelkow, E.M. (2002) J. Cell Biol., 156, 1051-1063.
232. Himmler, A. (1989) Mol. Cell Biol., 9, 1389-1396.
233. Panda, D., Samuel, J.C., Massie, M., Feinstein, S.C. and Wilson, L. (2003) Proc. Natl. Acad. Sci. USA, 100, 9548-9553.
234. Simpson, C.L., Al-Chalabi, A. Biochim. Biophys. Acta, (2006) 1762, 973-985.
235. Matsumoto, S., Kusaka, H., Murakami, N., Hashizume, Y., Okazaki, H. and Hirano, A. (1992) Acta Neuropathol. (Berl), 83, 579-583.
236. Mizusawa, H., Matsumoto, S., Yen, S.H., Hirano, A., Rojas-Corona, R.R. and Donnenfeld, H. (1989) Acta Neuropathol. (Berl), 79, 37-43.
237. Troost, D., Sillevis Smitt, P.A., de Jong, J.M., Swaab, D.F. (1992) Acta Neuropathol. (Berl.), 84, 664-673.
238. Al-Chalabi, A., Andersen, P.M., Nilsson, P., Chioza, B., Andersson, J.L., Russ, C., Shaw, C.E., Powell, J.F. and Leigh, P.N. (1999) Hum. Mol. Genet., 8, 157-164.
239. Tomkins, J., Usher, P., Slade, J.Y., Ince, P.G., Curtis, A., Bushby, K. and Shaw, P.J. (1998) Neuroreport, 9, 3967-3970.
240. Cote, F., Collard, J.F. and Julien, J.P. (1993) Cell, 73, 35-46.
241. Xu, Z., Cork, L.C., Griffin, J.W., Cleveland, D.W. (1993) Cell, 73, 23-33.
242. Couillard-Despres, S., Meier, J. and Julien, J.P. (2000) Neurobiol. Dis., 7, 462-470.
243. Couillard-Despres, S., Zhu, Q., Wong, P.C., Price, D.L., Cleveland, D.W. and Julien, J.P. (1998) Proc. Natl. Acad. Sci. USA, 95, 9626-9630.
244. Julien, J.P., Couillard-Despres, S. and Meier, J. (1998) Brain Pathol., 8, 759-769.
245. Chung, R.S., McCormack, G.H., King, A.E., West, A.K. and Vickers, J.C. (2005) Exp. Neurol., 193, 481-488.
246. King, A.E., Dickson, T.C., Blizzard, C.A., Foster, S.S., Chung, R.S., West, A.K., Chuah, M.I. and Vickers, J.C. (2007) Eur. J. Neurosci., 26, 2151-2159.
247. Escurat, M., Djabali, K., Gumpel, M., Gros, F. and Portier, M.M. (1990) J. Neurosci., 10, 764-784.
248. Portier, M.M., Escurat, M., Landon, F., Djabali, K. and Bousquet, O. (1993) C.R. Acad. Sci. III, 316, 1124-1140.
249. Gros-Louis, F., Lariviere, R., Gowing, G., Laurent, S., Camu, W., Bouchard, J.P., Meininger, V., Rouleau, G.A. and Julien, J.P. (2004) J. Biol. Chem., 279, 45951-45956.
250. Leung, C.L., He, C.Z., Kaufmann, P., Chin, S.S., Naini, A., Liem, R.K., Mitsumoto, H. and Hays, A.P. (2004) Brain Pathol., 14, 290-296.
251. Breier, G. (2000) Semin. Thromb. Hemost., 26, 553-559.
252. Josko, J., Gwozdz, B., Jedrzejowska-Szypulka, H., Hendryk, S. (2000) Med. Sci. Monit., 6, 1047-1052.
253. Lennmyr, F., Ata, K.A., Funa, K., Olsson, Y. and Terent, A. (1998) J. Neuropathol. Exp. Neurol., 57, 874-882.
254. Oosthuyse, B., Moons, L., Storkebaum, E., Beck, H., Nuyens, D., Brusselmans, K., Van Dorpe, J., Hellings, P., Gorselink, M., Heymans, S., Theilmeier, G., Dewerchin, M., Laudenbach, V., Vermylen, P., Raat, H., Acker, T., Vleminckx, V., Van Den Bosch, L., Cashman, N., Fujisawa, H., Drost, M.R., Sciot, R., Bruyninckx, F., Hicklin, D.J., Ince, C., Gressens, P., Lupu, F., Plate, K.H., Robberecht, W., Herbert, J.M., Collen, D. and Carmeliet, P. (2001) Nat. Genet., 28, 131-138.
255. Lambrechts, D., Storkebaum, E., Morimoto, M., Del-Favero, J., Desmet, F., Marklund, S.L., Wyns, S., Thijs, V., Andersson, J., van Marion, I., Al-Chalabi, A., Bornes, S., Musson, R., Hansen, V., Beckman, L., Adolfsson, R., Pall, H.S., Prats, H., Vermeire, S., Rutgeerts, P., Katayama, S., Awata, T., Leigh, N., Lang-Lazdunski, L., Dewerchin, M., Shaw, C., Moons, L., Vlietinck, R., Morrison, K.E., Robberecht, W., Van Broeckhoven, C., Collen, D., Andersen, P.M. and Carmeliet, P. (2003) Nat. Genet., 34, 383-394.
256. Terry, P.D., Kamel, F., Umbach, D.M., Lehman, T.A., Hu, H., Sandler, D.P. and Taylor, J.A. (2004) J. Neurogenet., 18, 429-434.
257. Chen, W., Saeed, M., Mao, H., Siddique, N., Dellefave, L., Hung, W.Y., Deng, H.X., Sufit, R.L., Heller, S.L., Haines, J.L., Pericak-Vance, M. and Siddique, T. (2006) Neurology, 67, 508-510.
258. Van Vught, P.W., Sutedja, N.A., Veldink, J.H., Koeleman, B.P., Groeneveld, G.J., Wijmenga, C., Uitdehaag, B.M., de Jong, J.M., Baas, F., Wokke, J.H. and Van den Berg, L.H. (2005) Neurology, 65, 1643-1645.
259. Gros-Louis, F., Laurent, S., Lopes, A.A., Khoris, J., Meininger, V., Camu, W. and Rouleau, G.A. (2003) Muscle Nerve, 28, 774-775.
260. Greenway, M.J., Andersen, P.M., Russ, C., Ennis, S., Cashman, S., Donaghy, C., Patterson, V., Swingler, R., Kieran, D., Prehn, J., Morrison, K.E., Green, A., Acharya, K.R., Brown, R.H.Jr. and Hardiman, O. (2006) Nat. Genet., 38, 411-413.
261. Corrado, L., Battistini, S., Penco, S., Bergamaschi, L., Testa, L., Ricci, C., Giannini, F., Greco, G., Patrosso, M.C., Pileggi, S., Causarano, R., Mazzini, L., Momigliano- Richiardi, P. and D'Alfonso, S. (2007) J. Neurol. Sci., 258, 123-127.
262. Del Bo, R., Scarlato, M., Ghezzi, S., Martinelli-Boneschi, F., Corti, S., Locatelli, F., Santoro, D., Prelle, A., Briani, C., Nardini, M., Siciliano, G., Mancuso, M., Murri, L., Bresolin, N. and Comi, G.P. (2008) Neurobiol. Aging, 29, 314-316.
263. Sendtner, M., Arakawa, Y., Stockli, K.A., Kreutzberg, G.W. and Thoenen, H. (1991) J. Cell Sci. Suppl., 15, 103-109.
264. Sendtner, M., Kreutzberg, G.W. and Thoenen, H. (1990) Nature, 345, 440-441.
265. Sendtner, M. (1995) Baillieres. Clin. Neurol., 4, 575-591.
266. Lo, A.C., Li, L., Oppenheim, R.W., Prevette, D. and Houenou, L.J. (1995) Exp. Neurol., 134, 49-55.
267. Masu, Y., Wolf, E., Holtmann, B., Sendtner, M., Brem, G. and Thoenen, H. (1993) Nature, 365, 27-32.
268. Giess, R., Holtmann, B., Braga, M., Grimm, T., Muller-Myhsok, B., Toyka, K.V., Sendtner, M. (2002) Am. J. Hum. Genet., 70, 1277-1286.
269. Giess, R., Goetz, R., Schrank, B., Ochs, G., Sendtner, M. and Toyka, K. (1998) Muscle Nerve, 21, 236-238.
270. Al-Chalabi, A., Scheffler, M.D., Smith, B.N., Parton, M.J., Cudkowicz, M.E., Andersen, P.M., Hayden, D.L., Hansen, V.K., Turner, M.R., Shaw, C.E., Leigh, P.N. and Brown, R.H.Jr. (2003) Ann. Neurol., 54, 130-134.
271. Orrell, R.W., King, A.W., Lane, R.J. and de Belleroche, J.S. (1995) J. Neurol. Sci., 132, 126-128.
272. Takahashi, R., Yokoji, H., Misawa, H., Hayashi, M., Hu, J., Deguchi, T. (1994) Nat. Genet., 7, 79-84.
273. Lefebvre, S., Burglen, L., Reboullet, S., Clermont, O., Burlet, P., Viollet, L., Benichou, B., Cruaud, C., Millasseau, P., Zeviani, M., Le Paslier, D., Frézal, J., Cohen, D., Weissenbach, J., Munnich, A., Melki, J. (1995) Cell, 80, 155-165.
274. Veldink, J.H., van den Berg, L.H., Cobben, J.M., Stulp, R.P., De Jong, J.M., Vogels, O.J., Baas, F., Wokke, J.H. and Scheffer, H. (2001) Neurology, 56, 749-752.
275. Parboosingh, J.S., Meininger, V., McKenna-Yasek, D. and Brown, R.H.Jr. (1999) Arch. Neurol., 56, 710-712.
276. Orrell, R.W., Habgood, J.J., de Belleroche, J.S. and Lane, R.J. (1997) J. Neurol. Sci., 145, 55-61.
277. Jackson, M., Morrison, K.E., Al-Chalabi, A., Bakker, M. and Leigh, P.N. (1996) Ann. Neurol., 39, 796-800.
278. Corcia, P., Mayeux-Portas, V., Khoris, J., de Toffol, B., Autret, A., Muh, J.P., Camu, W. and Andres, C. (2002) Ann. Neurol., 51, 243-246.
279. Corcia, P., Camu, W., Halimi, J.M., Vourc'h, P., Antar, C., Vedrine, S., Giraudeau, B., de Toffol, B. and Andres, C.R. (2006) Neurology, 67, 1147-1150.
280. Gamez, J., Barcelo, M.J., Munoz, X., Carmona, F., Cusco, I., Baiget, M., Cervera, C. and Tizzano, E.F. (2002) Neurology, 59, 1456-1460.
281. Veldink, J.H., Kalmijn, S., Van der Hout, A.H., Lemmink, H.H., Groeneveld, G.J., Lummen, C., Scheffer, H., Wokke, J.H. and Van den Berg, L.H. (2005) Neurology, 65, 820-825.
282. Kunst, C.B., Messer, L., Gordon, J., Haines, J. and Patterson, D. (2000) Genomics, 70, 181-189.
283. Qian, S.Y. and Buettner, G.R. (1999) Free Radic. Biol. Med., 26, 1447-1456.
284. Sutedja, N.A., Sinke, R.J., Van Vught, P.W., Van der Linden, M.W., Wokke, J.H., Van Duijn, C.M., Njajou, O.T., Van der Schouw, Y.T., Veldink, J.H. and Van den Berg, L.H. (2007) Arch. Neurol., 64, 63-67.
285. Goodall, E.F., Greenway, M.J., van Marion, I., Carroll, C.B., Hardiman, O. and Morrison, K.E. (2005) Neurology, 65, 934-937.
286. Wang, X.S., Lee, S., Simmons, Z., Boyer, P., Scott, K., Liu, W. and Connor, J. (2004) J. Neurol. Sci., 227, 27-33.
287. Yen, A.A., Simpson, E.P., Henkel, J.S., Beers, D.R. and Appel, S.H. (2004) Neurology, 62, 1611-1612.
288. Boillee, S., Yamanaka, K., Lobsiger, C.S., Copeland, N.G., Jenkins, N.A., Kassiotis, G., Kollias, G. and Cleveland, D.W. (2006) Science, 312, 1389-1392.
289. Lino, M.M., Schneider, C. and Caroni, P. (2002) J. Neurosci., 22, 4825-4832.
290. Pramatarova, A., Laganiere, J., Roussel, J., Brisebois, K. and Rouleau, G.A. (2001) J. Neurosci., 21, 3369-3374.
291. Gong, Y.H., Parsadanian, A.S., Andreeva, A., Snider, W.D. and Elliott, J.L. (2000) J. Neurosci., 20, 660-665.
292. Clement, A.M., Nguyen, M.D., Roberts, E.A., Garcia, M.L., Boillee, S., Rule, M., McMahon, A.P., Doucette, W., Siwek, D., Ferrante, R.J., Brown, R.H.Jr., Julien, J.P., Goldstein, L.S. and Cleveland, D.W. (2003) Science, 302, 113-117.
293. Beers, D.R., Henkel, J.S., Xiao, Q., Zhao, W., Wang, J., Yen, A.A., Siklos, L., McKercher, S.R. and Appel, S.H. (2006) Proc. Natl. Acad. Sci. USA, 103, 16021-16026.
294. Jaarsma, D., Teuling, E., Haasdijk, E.D., De Zeeuw, C.I. and Hoogenraad, C.C. (2008) J. Neurosci., 28, 2075-2088.