-
1
-
-
0028236505
-
The rumpshaker mutation in spastic paraplegia
-
Kobayashi, H., Hoffman, E.P., and Marks, H.G. 1994. The rumpshaker mutation in spastic paraplegia. Nat. Genet. 7:351-352.
-
(1994)
Nat. Genet.
, vol.7
, pp. 351-352
-
-
Kobayashi, H.1
Hoffman, E.P.2
Marks, H.G.3
-
2
-
-
8944250670
-
Hereditary spastic paraplegia: Advances in genetic research
-
Fink, J.K., et al. 1996. Hereditary spastic paraplegia: advances in genetic research. Neurology. 46:1507-1514.
-
(1996)
Neurology
, vol.46
, pp. 1507-1514
-
-
Fink, J.K.1
-
3
-
-
0020641096
-
Classification of the hereditary ataxias and paraplegias
-
Harding, A.E. 1983. Classification of the hereditary ataxias and paraplegias. Lancet. 1151-1154.
-
(1983)
Lancet
, pp. 1151-1154
-
-
Harding, A.E.1
-
4
-
-
0030843168
-
Advances in hereditary spastic paraplegia
-
Fink, J.K. 1997. Advances in hereditary spastic paraplegia. Curr. Opin. Neurol. 10:313-318.
-
(1997)
Curr. Opin. Neurol.
, vol.10
, pp. 313-318
-
-
Fink, J.K.1
-
6
-
-
0035370669
-
Molecular basis of inherited spastic paraplegias
-
Casari, G., and Rugarli, E. 2001. Molecular basis of inherited spastic paraplegias. Curr. Opin. Genet. Dev. 11:336-342.
-
(2001)
Curr. Opin. Genet. Dev.
, vol.11
, pp. 336-342
-
-
Casari, G.1
Rugarli, E.2
-
7
-
-
0032511186
-
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
-
Casari, G., et al. 1998. Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell. 93:973-983.
-
(1998)
Cell
, vol.93
, pp. 973-983
-
-
Casari, G.1
-
8
-
-
0030008581
-
The YTA10-12 complex, an AAA protease with chaperone-like activity in the inner membrane of mitochondria
-
Arlt, H., Tauer, R., Feldmann, H., Neupert, W., and Langer, T. 1996. The YTA10-12 complex, an AAA protease with chaperone-like activity in the inner membrane of mitochondria. Cell. 85:875-885.
-
(1996)
Cell
, vol.85
, pp. 875-885
-
-
Arlt, H.1
Tauer, R.2
Feldmann, H.3
Neupert, W.4
Langer, T.5
-
9
-
-
0029328549
-
A 200-amino acid ATPase module in search of a basic function
-
Confalonieri, F., and Duguet, M. 1995. A 200-amino acid ATPase module in search of a basic function. Bioessays. 17:639-650.
-
(1995)
Bioessays
, vol.17
, pp. 639-650
-
-
Confalonieri, F.1
Duguet, M.2
-
10
-
-
0032969563
-
AAA+: A class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes
-
Neuwald, A.F., Aravind, L., Spouge, J.L., and Koonin, E.V. 1999. AAA+: a class of chaperone-like ATPases associated with the assembly, operation, and disassembly of protein complexes. Genome Res. 9:27-43.
-
(1999)
Genome Res.
, vol.9
, pp. 27-43
-
-
Neuwald, A.F.1
Aravind, L.2
Spouge, J.L.3
Koonin, E.V.4
-
11
-
-
0034874791
-
AAA proteases of mitochondria: Quality control of membrane proteins and regulatory functions during mitochondrial biogenesis
-
Langer, T., Kaser, M., Klanner, C., and Leonhard, K. 2001. AAA proteases of mitochondria: quality control of membrane proteins and regulatory functions during mitochondrial biogenesis. Biochem. Soc. Trans. 29:431-436.
-
(2001)
Biochem. Soc. Trans.
, vol.29
, pp. 431-436
-
-
Langer, T.1
Kaser, M.2
Klanner, C.3
Leonhard, K.4
-
12
-
-
0035957066
-
Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England
-
McDermott, C.J., et al. 2001. Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England. Neurology. 56:467-471.
-
(2001)
Neurology
, vol.56
, pp. 467-471
-
-
McDermott, C.J.1
-
13
-
-
0036241765
-
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60
-
Hansen, J.J., et al. 2002. Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am. J. Hum. Genet. 70:1328-1332.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 1328-1332
-
-
Hansen, J.J.1
-
14
-
-
0003448569
-
-
Cold Spring Harbor Laboratory Press. Cold Spring Harbor, New York, USA
-
Harlow, E., and Lane, D. 1988. Antibodies: a laboratory manual. Cold Spring Harbor Laboratory Press. Cold Spring Harbor, New York, USA. 726.
-
(1988)
Antibodies: A Laboratory Manual
, pp. 726
-
-
Harlow, E.1
Lane, D.2
-
15
-
-
0023597602
-
Cerebral ischemia and reperfusion: Prevention of brain mitochondrial injury by lidoflazine
-
Rosenthal, R.E., Hamud, F., Fiskum, G., Varghese, P.J., and Sharpe, S. 1987. Cerebral ischemia and reperfusion: prevention of brain mitochondrial injury by lidoflazine. J. Cereb. Blood Flow Metab. 7:752-758.
-
(1987)
J. Cereb. Blood Flow Metab.
, vol.7
, pp. 752-758
-
-
Rosenthal, R.E.1
Hamud, F.2
Fiskum, G.3
Varghese, P.J.4
Sharpe, S.5
-
16
-
-
0033571693
-
Luminometric assays of ATP, phosphocreatine, and creatine for estimation of free ADP and free AMP
-
Ronner, P., Friel, E., Czerniawski, K., and Frankle, S. 1999. Luminometric assays of ATP, phosphocreatine, and creatine for estimation of free ADP and free AMP. Anal. Biochem. 275:208-216.
-
(1999)
Anal. Biochem.
, vol.275
, pp. 208-216
-
-
Ronner, P.1
Friel, E.2
Czerniawski, K.3
Frankle, S.4
-
17
-
-
0025123850
-
The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia
-
Robinson, B.H., et al. 1990. The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia. Pediatr. Res. 28:549-555.
-
(1990)
Pediatr. Res.
, vol.28
, pp. 549-555
-
-
Robinson, B.H.1
-
18
-
-
0034722339
-
Epitope-tagged P(0) glycoprotein causes Charcot-Marie-Tooth-like neuropathy in transgenic mice
-
Previtali, S.C., et al. 2000. Epitope-tagged P(0) glycoprotein causes Charcot-Marie-Tooth-like neuropathy in transgenic mice. J. Cell Biol. 151:1035-1046.
-
(2000)
J. Cell Biol.
, vol.151
, pp. 1035-1046
-
-
Previtali, S.C.1
-
19
-
-
0035099437
-
In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: Correction of neuropathology and protection against learning impairments in affected mice
-
Consiglio, A., et al. 2001. In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: correction of neuropathology and protection against learning impairments in affected mice. Nat. Med. 7:310-316.
-
(2001)
Nat. Med.
, vol.7
, pp. 310-316
-
-
Consiglio, A.1
-
21
-
-
0003729788
-
-
Springer-Verlag. Berlin, Germany
-
Nieuwenhuys, R., Ten Donkellar, H.J., and Nicholson, C. 1998. The central nervous system of vertebrates. Springer-Verlag. Berlin, Germany. 1668-1672.
-
(1998)
The Central Nervous System of Vertebrates
, pp. 1668-1672
-
-
Nieuwenhuys, R.1
Ten Donkellar, H.J.2
Nicholson, C.3
-
22
-
-
0029042577
-
Anatomy, development and lesion-induced plasticity of rodent corticospinal tract
-
Terashima, T. 1995. Anatomy, development and lesion-induced plasticity of rodent corticospinal tract. Neurosci. Res. 22:139-161.
-
(1995)
Neurosci. Res.
, vol.22
, pp. 139-161
-
-
Terashima, T.1
-
24
-
-
0019954865
-
Cholera toxin and wheat germ agglutinin conjugates as neuroanatomical probes: Their uptake and clearance, transganglionic and retrograde transport and sensitivity
-
Wan, X.C., Trojanowski, J.Q., and Gonatas, J.O. 1982. Cholera toxin and wheat germ agglutinin conjugates as neuroanatomical probes: their uptake and clearance, transganglionic and retrograde transport and sensitivity. Brain Res. 243:215-224.
-
(1982)
Brain Res.
, vol.243
, pp. 215-224
-
-
Wan, X.C.1
Trojanowski, J.Q.2
Gonatas, J.O.3
-
25
-
-
0036844683
-
Is the transportation highway the right road for hereditary spastic paraplegia?
-
Crosby, A.H., and Proukakis, C. 2002. Is the transportation highway the right road for hereditary spastic paraplegia? Am. J. Hum. Genet. 71:1009-1016.
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 1009-1016
-
-
Crosby, A.H.1
Proukakis, C.2
-
26
-
-
0036308235
-
Merging mitochondria matters: Cellular role and molecular machinery of mirochondrial fusion
-
Westermann, B. 2002. Merging mitochondria matters: cellular role and molecular machinery of mirochondrial fusion. EMBO Rep. 3:527-531.
-
(2002)
EMBO Rep.
, vol.3
, pp. 527-531
-
-
Westermann, B.1
-
27
-
-
0035936556
-
Mitochondrial division: New partners in membrane pinching
-
Yoon, Y., and McNiven, M.A. 2001. Mitochondrial division: new partners in membrane pinching. Curr. Biol. 11:R67-R70.
-
(2001)
Curr. Biol.
, vol.11
-
-
Yoon, Y.1
McNiven, M.A.2
-
28
-
-
0038700756
-
Mitochondrial membrane remodelling regulated by a conserved rhomboid protease
-
McQuibban, G.A., Saurya, S., and Freeman, M. 2003. Mitochondrial membrane remodelling regulated by a conserved rhomboid protease. Nature. 423:537-541.
-
(2003)
Nature
, vol.423
, pp. 537-541
-
-
McQuibban, G.A.1
Saurya, S.2
Freeman, M.3
-
29
-
-
0033525615
-
The machinery of mitochondrial inheritance and behavior
-
Yaffe, M.P. 1999. The machinery of mitochondrial inheritance and behavior. Science. 283:1493-1497.
-
(1999)
Science
, vol.283
, pp. 1493-1497
-
-
Yaffe, M.P.1
-
30
-
-
0037455575
-
Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development
-
Chen, H., et al. 2003. Mitofusins Mfn1 and Mfn2 coordinately regulate mitochondrial fusion and are essential for embryonic development. J. Cell Biol. 160:189-200.
-
(2003)
J. Cell Biol.
, vol.160
, pp. 189-200
-
-
Chen, H.1
-
31
-
-
0037007227
-
Mitochondria are morphologically and functionally heterogeneous within cells
-
Collins, T.J., Berridge, M.J., Lipp, P., and Bootman, M.D. 2002. Mitochondria are morphologically and functionally heterogeneous within cells. EMBO J. 21:1616-1627.
-
(2002)
EMBO J.
, vol.21
, pp. 1616-1627
-
-
Collins, T.J.1
Berridge, M.J.2
Lipp, P.3
Bootman, M.D.4
-
32
-
-
0002185678
-
The pattern and mechanism of mitochondrial transport in axons
-
Hollenbeck, P.J. 1996. The pattern and mechanism of mitochondrial transport in axons. Front. Biosci. 1:d91-d102.
-
(1996)
Front. Biosci.
, vol.1
-
-
Hollenbeck, P.J.1
-
33
-
-
0033593816
-
The yeast dynamin-like protein, Mgm1p, functions on the mitochondrial outer membrane to mediate mitochondrial inheritance
-
Shepard, K.A., and Yaffe, M.P. 1999. The yeast dynamin-like protein, Mgm1p, functions on the mitochondrial outer membrane to mediate mitochondrial inheritance. J. Cell Biol. 144:711-720.
-
(1999)
J. Cell Biol.
, vol.144
, pp. 711-720
-
-
Shepard, K.A.1
Yaffe, M.P.2
-
34
-
-
0033772264
-
OPAI, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28
-
Alexander, C., et al. 2000. OPAI, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28. Nat. Genet. 26:211-215.
-
(2000)
Nat. Genet.
, vol.26
, pp. 211-215
-
-
Alexander, C.1
-
35
-
-
20244381365
-
Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy
-
Delettre, C., et al. 2000. Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy. Nat. Genet. 26:207-210.
-
(2000)
Nat. Genet.
, vol.26
, pp. 207-210
-
-
Delettre, C.1
-
36
-
-
0018126621
-
Slow axonal transport of neurofilament proteins: Impairment of beta, beta′-iminodipropionitrile administration
-
Griffin, J.W., Hoffman, P.N., Clark, A.W., Carroll, P.T., and Price, D.L. 1978. Slow axonal transport of neurofilament proteins: impairment of beta, beta′-iminodipropionitrile administration. Science. 202:633-635.
-
(1978)
Science
, vol.202
, pp. 633-635
-
-
Griffin, J.W.1
Hoffman, P.N.2
Clark, A.W.3
Carroll, P.T.4
Price, D.L.5
-
37
-
-
0033763056
-
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy
-
Bomont, P., et al. 2000. The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy. Nat. Genet. 26:370-374.
-
(2000)
Nat. Genet.
, vol.26
, pp. 370-374
-
-
Bomont, P.1
-
38
-
-
0034326239
-
Cytosketetal abnormalities in amyotrophic lateral sclerosis: Beneficial or detrimental effects?
-
Julien, J.P., and Beaulieu, J.M. 2000. Cytosketetal abnormalities in amyotrophic lateral sclerosis: beneficial or detrimental effects? J. Neurol. Sci. 180:7-14.
-
(2000)
J. Neurol. Sci.
, vol.180
, pp. 7-14
-
-
Julien, J.P.1
Beaulieu, J.M.2
-
39
-
-
0035936804
-
Amyotrophic lateral sclerosis: Unfolding the toxicity of the misfolded
-
Julien, J.P. 2001. Amyotrophic lateral sclerosis: unfolding the toxicity of the misfolded. Cell. 104:581-591.
-
(2001)
Cell
, vol.104
, pp. 581-591
-
-
Julien, J.P.1
-
40
-
-
0033925726
-
Axonal Charcot-Marie-Tooth disease and the neurofilament light gene (NF-L)
-
Lupski, J.R. 2000. Axonal Charcot-Marie-Tooth disease and the neurofilament light gene (NF-L). Am. J. Hum. Genet. 67:8-10.
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 8-10
-
-
Lupski, J.R.1
-
41
-
-
0033911099
-
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene
-
Mersiyanova, I.V., et al. 2000. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am. J. Hum. Genet. 67:37-46.
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 37-46
-
-
Mersiyanova, I.V.1
-
42
-
-
0027758895
-
Involvement of neurofilaments in motor neuron disease
-
Xu, Z., Cork, L.C., Griffin, J.W., and Cleveland, D.W. 1993. Involvement of neurofilaments in motor neuron disease. J. Cell Sci. Suppl. 17:101-108.
-
(1993)
J. Cell Sci. Suppl.
, vol.17
, pp. 101-108
-
-
Xu, Z.1
Cork, L.C.2
Griffin, J.W.3
Cleveland, D.W.4
-
43
-
-
0033231494
-
From Charcot to SOD1: Mechanisms of selective motor neuron death in ALS
-
Cleveland, D.W. 1999. From Charcot to SOD1: mechanisms of selective motor neuron death in ALS. Neuron. 24:515-520.
-
(1999)
Neuron
, vol.24
, pp. 515-520
-
-
Cleveland, D.W.1
-
44
-
-
0021087687
-
Modulations of neurofilament axonal transport during the development of rabbit retinal ganglion cells
-
Willard, M., and Simon, C. 1983. Modulations of neurofilament axonal transport during the development of rabbit retinal ganglion cells. Cell. 35:551-559.
-
(1983)
Cell
, vol.35
, pp. 551-559
-
-
Willard, M.1
Simon, C.2
-
45
-
-
0037382240
-
Mutant dynactin in motor neuron disease
-
Puls, I., et al. 2003. Mutant dynactin in motor neuron disease. Nat. Genet. 33:455-456.
-
(2003)
Nat. Genet.
, vol.33
, pp. 455-456
-
-
Puls, I.1
-
46
-
-
0037198698
-
Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration
-
LaMonte, B.H., et al. 2002. Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration. Neuron. 34:715-727.
-
(2002)
Neuron
, vol.34
, pp. 715-727
-
-
LaMonte, B.H.1
-
47
-
-
18644365196
-
A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)
-
Reid, E., et al. 2002. A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am. J. Hum. Genet. 71:1189-1194.
-
(2002)
Am. J. Hum. Genet.
, vol.71
, pp. 1189-1194
-
-
Reid, E.1
-
48
-
-
0032486428
-
Axonal swellings and degeneration in mice lacking the major proteolipid of myelin
-
Griffiths, I., et al. 1998. Axonal swellings and degeneration in mice lacking the major proteolipid of myelin. Science. 280:1610-1613.
-
(1998)
Science
, vol.280
, pp. 1610-1613
-
-
Griffiths, I.1
|