-
1
-
-
79960167259
-
Selective neuronal vulnerability in neurodegenerative diseases: From stressor thresholds to degeneration
-
Saxena, S. & Caroni, P. Selective neuronal vulnerability in neurodegenerative diseases: from stressor thresholds to degeneration. Neuron 71, 35-48 (2011).
-
(2011)
Neuron
, vol.71
, pp. 35-48
-
-
Saxena, S.1
Caroni, P.2
-
2
-
-
0034175513
-
Early and selective loss of neuromuscular synapse subtypes with low sprouting competence in motoneuron diseases
-
Frey, D. et al. Early and selective loss of neuromuscular synapse subtypes with low sprouting competence in motoneuron diseases. J. Neurosci. 20, 2534-2542 (2000).
-
(2000)
J. Neurosci.
, vol.20
, pp. 2534-2542
-
-
Frey, D.1
-
3
-
-
0345742771
-
Amyotrophic lateral sclerosis is a distal axonopathy: Evidence in mice and man
-
Fischer, L. R. et al. Amyotrophic lateral sclerosis is a distal axonopathy: evidence in mice and man. Exp. Neurol. 185, 232-240 (2004).
-
(2004)
Exp. Neurol.
, vol.185
, pp. 232-240
-
-
Fischer, L.R.1
-
4
-
-
23844511513
-
Prevalence and patterns of cognitive impairment in sporadic ALS
-
Ringholz, G. M. et al. Prevalence and patterns of cognitive impairment in sporadic ALS. Neurology 65, 586-590 (2005).
-
(2005)
Neurology
, vol.65
, pp. 586-590
-
-
Ringholz, G.M.1
-
5
-
-
80755133370
-
Clinical genetics of amyotrophic lateral sclerosis: What do we really know?
-
Andersen, P. M. & Al-Chalabi, A. Clinical genetics of amyotrophic lateral sclerosis: what do we really know? Nature Rev. Neurol. 7, 603-615 (2011).
-
(2011)
Nature Rev. Neurol.
, vol.7
, pp. 603-615
-
-
Andersen, P.M.1
Al-Chalabi, A.2
-
6
-
-
0033366384
-
Slowing of axonal transport is a very early event in the toxicity of ALS-linked SOD1 mutants to motor neurons
-
Williamson, T. L. & Cleveland, D. W. Slowing of axonal transport is a very early event in the toxicity of ALS-linked SOD1 mutants to motor neurons. Nature Neurosci. 2, 50-56 (1999).
-
(1999)
Nature Neurosci
, vol.2
, pp. 50-56
-
-
Williamson, T.L.1
Cleveland, D.W.2
-
7
-
-
9644257278
-
Altered sensorimotor development in a transgenic mouse model of amyotrophic lateral sclerosis
-
Amendola, J. et al. Altered sensorimotor development in a transgenic mouse model of amyotrophic lateral sclerosis. Eur. J. Neurosci. 20, 2822-2826 (2004).
-
(2004)
Eur. J. Neurosci.
, vol.20
, pp. 2822-2826
-
-
Amendola, J.1
-
8
-
-
58149173426
-
Neonatal neuronal circuitry shows hyperexcitable disturbance in a mouse model of the adult-onset neurodegenerative disease amyotrophic lateral sclerosis
-
van Zundert, B. et al. Neonatal neuronal circuitry shows hyperexcitable disturbance in a mouse model of the adult-onset neurodegenerative disease amyotrophic lateral sclerosis. J. Neurosci. 28, 10864-10874 (2008).
-
(2008)
J. Neurosci.
, vol.28
, pp. 10864-10874
-
-
Van Zundert, B.1
-
9
-
-
33847017739
-
Early electrophysiological abnormalities in lumbar motoneurons in a transgenic mouse model of amyotrophic lateral sclerosis
-
Bories, C. et al. Early electrophysiological abnormalities in lumbar motoneurons in a transgenic mouse model of amyotrophic lateral sclerosis. Eur. J. Neurosci. 25, 451-459 (2007).
-
(2007)
Eur. J. Neurosci.
, vol.25
, pp. 451-459
-
-
Bories, C.1
-
10
-
-
32944476045
-
The G93C mutation in superoxide dismutase 1: Clinicopathologic phenotype and prognosis
-
Regal, L. et al. The G93C mutation in superoxide dismutase 1: clinicopathologic phenotype and prognosis. Arch. Neurol. 63, 262-267 (2006).
-
(2006)
Arch. Neurol.
, vol.63
, pp. 262-267
-
-
Regal, L.1
-
11
-
-
79951704433
-
Neuroinflammation in amyotrophic lateral sclerosis: Role of glial activation in motor neuron disease
-
Philips, T. & Robberecht, W. Neuroinflammation in amyotrophic lateral sclerosis: role of glial activation in motor neuron disease. Lancet Neurol. 10, 253-263 (2011).
-
(2011)
Lancet Neurol
, vol.10
, pp. 253-263
-
-
Philips, T.1
Robberecht, W.2
-
12
-
-
33749632259
-
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis
-
Neumann, M. et al. Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis. Science 314, 130-133 (2006).
-
(2006)
Science
, vol.314
, pp. 130-133
-
-
Neumann, M.1
-
13
-
-
84860683749
-
Dysfunction of constitutive and inducible ubiquitin-proteasome system in amyotrophic lateral sclerosis: Implication for protein aggregation and immune response
-
Bendotti, C. et al. Dysfunction of constitutive and inducible ubiquitin-proteasome system in amyotrophic lateral sclerosis: implication for protein aggregation and immune response. Prog. Neurobiol. 97, 101-126 (2012).
-
(2012)
Prog. Neurobiol.
, vol.97
, pp. 101-126
-
-
Bendotti, C.1
-
14
-
-
33749070043
-
Insoluble mutant SOD1 is partly oligoubiquitinated in amyotrophic lateral sclerosis mice
-
Basso, M. et al. Insoluble mutant SOD1 is partly oligoubiquitinated in amyotrophic lateral sclerosis mice. J. Biol. Chem. 281, 33325-33335 (2006).
-
(2006)
J. Biol. Chem.
, vol.281
, pp. 33325-33335
-
-
Basso, M.1
-
15
-
-
83455243339
-
Autophagy dysregulation in amyotrophic lateral sclerosis
-
Chen, S. et al. Autophagy dysregulation in amyotrophic lateral sclerosis. Brain Pathol. 22, 110-116 (2012).
-
(2012)
Brain Pathol
, vol.22
, pp. 110-116
-
-
Chen, S.1
-
16
-
-
79955522014
-
Autophagy in spinal cord motor neurons in sporadic amyotrophic lateral sclerosis
-
Sasaki, S. Autophagy in spinal cord motor neurons in sporadic amyotrophic lateral sclerosis. J. Neuropathol. Exp. Neurol. 70, 349-359 (2011).
-
(2011)
J. Neuropathol. Exp. Neurol.
, vol.70
, pp. 349-359
-
-
Sasaki, S.1
-
17
-
-
34548125010
-
Increased autophagy in transgenic mice with a G93A mutant SOD1 gene
-
Morimoto, N. et al. Increased autophagy in transgenic mice with a G93A mutant SOD1 gene. Brain Res. 1167, 112-117 (2007).
-
(2007)
Brain Res
, vol.1167
, pp. 112-117
-
-
Morimoto, N.1
-
18
-
-
67349164383
-
A role for motoneuron subtype-selective ER stress in disease manifestations of FALS mice
-
Saxena, S., E. Cabuy & Caroni, P. A role for motoneuron subtype-selective ER stress in disease manifestations of FALS mice. Nature Neurosci. 12, 627-636 (2009).
-
(2009)
Nature Neurosci.
, vol.12
, pp. 627-636
-
-
Saxena, S.1
Cabuy, E.2
Caroni, P.3
-
19
-
-
74049164709
-
Non-cell autonomous toxicity in neurodegenerative disorders: ALS and beyond
-
Ilieva, H., Polymenidou, M. & Cleveland, D. W. Non-cell autonomous toxicity in neurodegenerative disorders: ALS and beyond. J. Cell Biol. 187, 761-772 (2009).
-
(2009)
J. Cell Biol.
, vol.187
, pp. 761-772
-
-
Ilieva, H.1
Polymenidou, M.2
Cleveland, D.W.3
-
20
-
-
34250177650
-
Wild-type superoxide dismutase acquires binding and toxic properties of ALS-linked mutant forms through oxidation
-
Ezzi, S. A., Urushitani, M. & Julien, J. P. Wild-type superoxide dismutase acquires binding and toxic properties of ALS-linked mutant forms through oxidation. J. Neurochem. 102, 170-178 (2007).
-
(2007)
J. Neurochem.
, vol.102
, pp. 170-178
-
-
Ezzi, S.A.1
Urushitani, M.2
Julien, J.P.3
-
21
-
-
77958519939
-
Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS
-
Bosco, D. A. et al. Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS. Nature Neurosci. 13, 1396-1403 (2010).
-
(2010)
Nature Neurosci
, vol.13
, pp. 1396-1403
-
-
Bosco, D.A.1
-
22
-
-
0347155578
-
Oxidation-induced misfolding and aggregation of superoxide dismutase and its implications for amyotrophic lateral sclerosis
-
Rakhit, R. et al. Oxidation-induced misfolding and aggregation of superoxide dismutase and its implications for amyotrophic lateral sclerosis. J. Biol. Chem. 277, 47551-47556 (2002).
-
(2002)
J. Biol. Chem.
, vol.277
, pp. 47551-47556
-
-
Rakhit, R.1
-
23
-
-
84859452121
-
Localization of a toxic form of superoxide dismutase 1 protein to pathologically affected tissues in familial ALS
-
Brotherton, T. E. et al. Localization of a toxic form of superoxide dismutase 1 protein to pathologically affected tissues in familial ALS. Proc. Natl Acad. Sci. USA 109, 5505-5510 (2012).
-
(2012)
Proc. Natl Acad. Sci. USA
, vol.109
, pp. 5505-5510
-
-
Brotherton, T.E.1
-
24
-
-
80052580969
-
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
-
Deng, H. X. et al. Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia. Nature 477, 211-215 (2011).
-
(2011)
Nature
, vol.477
, pp. 211-215
-
-
Deng, H.X.1
-
25
-
-
20044362721
-
Family-based association between Alzheimer's disease and variants in UBQLN1
-
Bertram, L. et al. Family-based association between Alzheimer's disease and variants in UBQLN1. N. Engl. J. Med. 352, 884-894 (2005).
-
(2005)
N. Engl. J. Med.
, vol.352
, pp. 884-894
-
-
Bertram, L.1
-
26
-
-
2442520399
-
Ubiquilin interacts with ubiquitylated proteins and proteasome through its ubiquitin-associated and ubiquitin-like domains
-
Ko, H. S. et al. Ubiquilin interacts with ubiquitylated proteins and proteasome through its ubiquitin-associated and ubiquitin-like domains. FEBS Lett. 566, 110-114 (2004).
-
(2004)
FEBS Lett
, vol.566
, pp. 110-114
-
-
Ko, H.S.1
-
27
-
-
84864380051
-
UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis
-
Williams, K. L. et al. UBQLN2/ubiquilin 2 mutation and pathology in familial amyotrophic lateral sclerosis. Neurobiol. Aging 33, 2527.e3-2527.e10 (2012).
-
(2012)
Neurobiol. Aging
, vol.33
-
-
Williams, K.L.1
-
28
-
-
84866773422
-
Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype
-
Synofzik, M. et al. Screening in ALS and FTD patients reveals 3 novel UBQLN2 mutations outside the PXX domain and a pure FTD phenotype. Neurobiol. Aging 33, 2949.e13-2949.e17 (2012).
-
(2012)
Neurobiol. Aging
, vol.33
-
-
Synofzik, M.1
-
29
-
-
80855150639
-
SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis
-
Fecto, F. et al. SQSTM1 mutations in familial and sporadic amyotrophic lateral sclerosis. Arch. Neurol. 68, 1440-1446 (2011).
-
(2011)
Arch. Neurol.
, vol.68
, pp. 1440-1446
-
-
Fecto, F.1
-
30
-
-
78649941297
-
Exome sequencing reveals VCP mutations as a cause of familial ALS
-
Johnson, J. O. et al. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 68, 857-864 (2010).
-
(2010)
Neuron
, vol.68
, pp. 857-864
-
-
Johnson, J.O.1
-
31
-
-
1842483843
-
Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein
-
Watts, G. D. et al. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein. Nature Genet. 36, 377-381 (2004).
-
(2004)
Nature Genet
, vol.36
, pp. 377-381
-
-
Watts, G.D.1
-
32
-
-
84856474838
-
Emerging functions of the VCP/p97 AAA-ATPase in the ubiquitin system
-
Meyer, H., Bug, M. & Bremer, S. Emerging functions of the VCP/p97 AAA-ATPase in the ubiquitin system. Nature Cell Biol. 14, 117-123 (2012).
-
(2012)
Nature Cell Biol
, vol.14
, pp. 117-123
-
-
Meyer, H.1
Bug, M.2
Bremer, S.3
-
33
-
-
0037423187
-
ATPase activity of p97-valosin-containing protein (VCP). D2 mediates the major enzyme activity, and D1 contributes to the heat-induced activity
-
Song, C., Wang, Q. & Li, C. C. ATPase activity of p97-valosin-containing protein (VCP). D2 mediates the major enzyme activity, and D1 contributes to the heat-induced activity. J. Biol. Chem. 278, 3648-3655 (2003).
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 3648-3655
-
-
Song, C.1
Wang, Q.2
Li, C.C.3
-
34
-
-
33749006845
-
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
-
Parkinson, N. et al. ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B). Neurology 67, 1074-1077 (2006).
-
(2006)
Neurology
, vol.67
, pp. 1074-1077
-
-
Parkinson, N.1
-
35
-
-
77952419246
-
Mutations of optineurin in amyotrophic lateral sclerosis
-
Maruyama, H. et al. Mutations of optineurin in amyotrophic lateral sclerosis. Nature 465, 223-226 (2010).
-
(2010)
Nature
, vol.465
, pp. 223-226
-
-
Maruyama, H.1
-
36
-
-
58049192812
-
Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS
-
Chow, C. Y. et al. Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. Am. J. Hum. Genet. 84, 85-88 (2009).
-
(2009)
Am. J. Hum. Genet.
, vol.84
, pp. 85-88
-
-
Chow, C.Y.1
-
37
-
-
35948983328
-
Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease
-
Filimonenko, M. et al. Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease. J. Cell Biol. 179, 485-500 (2007).
-
(2007)
J. Cell Biol.
, vol.179
, pp. 485-500
-
-
Filimonenko, M.1
-
38
-
-
23044471011
-
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
-
Skibinski, G. et al. Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia. Nature Genet. 37, 806-808 (2005).
-
(2005)
Nature Genet
, vol.37
, pp. 806-808
-
-
Skibinski, G.1
-
39
-
-
34547924464
-
Optineurin negatively regulates TNFα induced NF-κB activation by competing with NEMO for ubiquitinated RIP
-
Zhu, G. et al. Optineurin negatively regulates TNFα induced NF-κB activation by competing with NEMO for ubiquitinated RIP. Curr. Biol. 17, 1438-1443 (2007).
-
(2007)
Curr. Biol.
, vol.17
, pp. 1438-1443
-
-
Zhu, G.1
-
40
-
-
80051563478
-
Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutations
-
Deng, H. X. et al. Differential involvement of optineurin in amyotrophic lateral sclerosis with or without SOD1 mutations. Arch. Neurol. 68, 1057-1061 (2011).
-
(2011)
Arch. Neurol.
, vol.68
, pp. 1057-1061
-
-
Deng, H.X.1
-
41
-
-
0036231465
-
Regulation of Fab1 phosphatidylinositol 3-phosphate 5-kinase pathway by Vac7 protein and Fig4 a polyphosphoinositide phosphatase family member
-
Gary, J. D. et al. Regulation of Fab1 phosphatidylinositol 3-phosphate 5-kinase pathway by Vac7 protein and Fig4 a polyphosphoinositide phosphatase family member. Mol. Biol. Cell 13, 1238-1251 (2002).
-
(2002)
Mol. Biol. Cell
, vol.13
, pp. 1238-1251
-
-
Gary, J.D.1
-
42
-
-
77956410115
-
Selective autophagy: Ubiquitin-mediated recognition and beyond
-
Kraft, C., Peter, M. & Hofmann, K. Selective autophagy: ubiquitin-mediated recognition and beyond. Nature Cell Biol. 12, 836-841 (2010).
-
(2010)
Nature Cell Biol
, vol.12
, pp. 836-841
-
-
Kraft, C.1
Peter, M.2
Hofmann, K.3
-
43
-
-
84871150225
-
Motor neuron-specific disruption of proteasomes, but not autophagy, replicates amyotrophic lateral sclerosis
-
Tashiro, Y. et al. Motor neuron-specific disruption of proteasomes, but not autophagy, replicates amyotrophic lateral sclerosis. J. Biol. Chem. 287, 42984-42994 (2012).
-
(2012)
J. Biol. Chem.
, vol.287
, pp. 42984-42994
-
-
Tashiro, Y.1
-
44
-
-
77954113167
-
Therapy development in spinal muscular atrophy
-
Sendtner, M. Therapy development in spinal muscular atrophy. Nature Neurosci. 13, 795-799 (2010).
-
(2010)
Nature Neurosci
, vol.13
, pp. 795-799
-
-
Sendtner, M.1
-
45
-
-
67651083390
-
Spinal muscular atrophy: Why do low levels of survival motor neuron protein make motor neurons sick?
-
Burghes, A. H. & Beattie, C. E. Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? Nature Rev. Neurosci. 10, 597-609 (2009).
-
(2009)
Nature Rev. Neurosci.
, vol.10
, pp. 597-609
-
-
Burghes, A.H.1
Beattie, C.E.2
-
46
-
-
0030931720
-
Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos
-
Schrank, B. et al. Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos. Proc. Natl Acad. Sci. USA 94, 9920-9925 (1997).
-
(1997)
Proc. Natl Acad. Sci. USA
, vol.94
, pp. 9920-9925
-
-
Schrank, B.1
-
47
-
-
84055217030
-
Valosin-containing protein and neurofibromin interact to regulate dendritic spine density
-
Wang, H. F. et al. Valosin-containing protein and neurofibromin interact to regulate dendritic spine density. J. Clin. Invest. 121, 4820-4837 (2011).
-
(2011)
J. Clin. Invest.
, vol.121
, pp. 4820-4837
-
-
Wang, H.F.1
-
48
-
-
77952891717
-
RNA metabolism and the pathogenesis of motor neuron diseases
-
Lemmens, R. et al. RNA metabolism and the pathogenesis of motor neuron diseases. Trends Neurosci. 33, 249-258 (2010).
-
(2010)
Trends Neurosci.
, vol.33
, pp. 249-258
-
-
Lemmens, R.1
-
49
-
-
41149180753
-
TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis
-
Sreedharan, J. et al. TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis. Science 319, 1668-1672 (2008).
-
(2008)
Science
, vol.319
, pp. 1668-1672
-
-
Sreedharan, J.1
-
50
-
-
52949094629
-
Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis
-
Rutherford, N. J. et al. Novel mutations in TARDBP (TDP-43) in patients with familial amyotrophic lateral sclerosis. PLoS Genet. 4, e1000193 (2008).
-
(2008)
PLoS Genet
, vol.4
-
-
Rutherford, N.J.1
-
51
-
-
84155167265
-
Gains or losses: Molecular mechanisms of TDP-43-mediated neurodegeneration
-
Lee, E. B., Lee, V. M. & Trojanowski, J. Q. Gains or losses: molecular mechanisms of TDP-43-mediated neurodegeneration. Nature Rev. Neurosci. 13, 38-50 (2012).
-
(2012)
Nature Rev. Neurosci.
, vol.13
, pp. 38-50
-
-
Lee, E.B.1
Lee, V.M.2
Trojanowski, J.Q.3
-
52
-
-
0035794665
-
Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping
-
Buratti, E. et al. Nuclear factor TDP-43 and SR proteins promote in vitro and in vivo CFTR exon 9 skipping. EMBO J. 20, 1774-1784 (2001).
-
(2001)
EMBO J
, vol.20
, pp. 1774-1784
-
-
Buratti, E.1
-
53
-
-
2442676753
-
Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR intron 8 and causes skipping of exon 9: A functional link with disease penetrance
-
Buratti, E. et al. Nuclear factor TDP-43 binds to the polymorphic TG repeats in CFTR intron 8 and causes skipping of exon 9: a functional link with disease penetrance. Am. J. Hum. Genet. 74, 1322-1325 (2004).
-
(2004)
Am. J. Hum. Genet.
, vol.74
, pp. 1322-1325
-
-
Buratti, E.1
-
54
-
-
79953185674
-
Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43
-
Polymenidou, M. et al. Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43. Nature Neurosci. 14, 459-468 (2011).
-
(2011)
Nature Neurosci
, vol.14
, pp. 459-468
-
-
Polymenidou, M.1
-
55
-
-
79953180492
-
Characterizing the RNA targets and position-dependent splicing regulation by TDP-43
-
Tollervey, J. R. et al. Characterizing the RNA targets and position-dependent splicing regulation by TDP-43. Nature Neurosci. 14, 452-458 (2011).
-
(2011)
Nature Neurosci
, vol.14
, pp. 452-458
-
-
Tollervey, J.R.1
-
56
-
-
84857772495
-
TDP-43 promotes microRNA biogenesis as a component of the Drosha and Dicer complexes
-
Kawahara, Y. & Mieda-Sato, A. TDP-43 promotes microRNA biogenesis as a component of the Drosha and Dicer complexes. Proc. Natl Acad. Sci. USA 109, 3347-3352 (2012).
-
(2012)
Proc. Natl Acad. Sci. USA
, vol.109
, pp. 3347-3352
-
-
Kawahara, Y.1
Mieda-Sato, A.2
-
57
-
-
77951700391
-
Nuclear factor TDP-43 can affect selected microRNA levels
-
Buratti, E. et al. Nuclear factor TDP-43 can affect selected microRNA levels. FEBS J. 277, 2268-2281 (2010).
-
(2010)
FEBS J
, vol.277
, pp. 2268-2281
-
-
Buratti, E.1
-
58
-
-
79952268025
-
TDP-43 is directed to stress granules by sorbitol, a novel physiological osmotic and oxidative stressor
-
Dewey, C. M. et al. TDP-43 is directed to stress granules by sorbitol, a novel physiological osmotic and oxidative stressor. Mol. Cell. Biol. 31, 1098-1108 (2011).
-
(2011)
Mol. Cell. Biol.
, vol.31
, pp. 1098-1108
-
-
Dewey, C.M.1
-
59
-
-
79952589652
-
TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1
-
McDonald, K. K. et al. TAR DNA-binding protein 43 (TDP-43) regulates stress granule dynamics via differential regulation of G3BP and TIA-1. Hum. Mol. Genet. 20, 1400-1410 (2011).
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 1400-1410
-
-
McDonald, K.K.1
-
60
-
-
80054699747
-
The mammalian disaggregase machinery: Hsp110 synergizes with Hsp70 and Hsp40 to catalyze protein disaggregation and reactivation in a cell-free system
-
Shorter, J. The mammalian disaggregase machinery: Hsp110 synergizes with Hsp70 and Hsp40 to catalyze protein disaggregation and reactivation in a cell-free system. PLoS ONE 6, e26319 (2011).
-
(2011)
PLoS ONE
, vol.6
-
-
Shorter, J.1
-
61
-
-
84862128438
-
TDP-43 aggregation in neurodegeneration: Are stress granules the key?
-
Dewey, C. M. et al. TDP-43 aggregation in neurodegeneration: are stress granules the key? Brain Res. 1462, 16-25 (2012).
-
(2012)
Brain Res
, vol.1462
, pp. 16-25
-
-
Dewey, C.M.1
-
62
-
-
0034638837
-
Dynamic shuttling of TIA-1 accompanies the recruitment of mRNA to mammalian stress granules
-
Kedersha, N. et al. Dynamic shuttling of TIA-1 accompanies the recruitment of mRNA to mammalian stress granules. J. Cell Biol. 151, 1257-1268 (2000).
-
(2000)
J. Cell Biol.
, vol.151
, pp. 1257-1268
-
-
Kedersha, N.1
-
63
-
-
0033611157
-
RNA-binding proteins TIA-1 and TIAR link the phosphorylation of eIF-2α to the assembly of mammalian stress granules
-
Kedersha, N. L. et al. RNA-binding proteins TIA-1 and TIAR link the phosphorylation of eIF-2α to the assembly of mammalian stress granules. J. Cell Biol. 147, 1431-1442 (1999).
-
(1999)
J. Cell Biol.
, vol.147
, pp. 1431-1442
-
-
Kedersha, N.L.1
-
64
-
-
0037302958
-
Mammalian stress granules represent sites of accumulation of stalled translation initiation complexes
-
Kimball, S. R. et al. Mammalian stress granules represent sites of accumulation of stalled translation initiation complexes. Am. J. Physiol. Cell Physiol. 284, C273-C284 (2003).
-
(2003)
Am. J. Physiol. Cell Physiol.
, vol.284
-
-
Kimball, S.R.1
-
65
-
-
78149461229
-
Tar DNA binding protein-43 (TDP-43) associates with stress granules: Analysis of cultured cells and pathological brain tissue
-
Liu-Yesucevitz, L. et al. Tar DNA binding protein-43 (TDP-43) associates with stress granules: analysis of cultured cells and pathological brain tissue. PLoS ONE 5, e13250 (2010).
-
(2010)
PLoS ONE
, vol.5
-
-
Liu-Yesucevitz, L.1
-
66
-
-
67749133873
-
TDP-43 is intrinsically aggregation-prone, and amyotrophic lateral sclerosis-linked mutations accelerate aggregation and increase toxicity
-
Johnson, B. S. et al. TDP-43 is intrinsically aggregation-prone, and amyotrophic lateral sclerosis-linked mutations accelerate aggregation and increase toxicity. J. Biol. Chem. 284, 20329-20339 (2009).
-
(2009)
J. Biol. Chem.
, vol.284
, pp. 20329-20339
-
-
Johnson, B.S.1
-
67
-
-
84874262984
-
ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43
-
Arnold, E. S. et al. ALS-linked TDP-43 mutations produce aberrant RNA splicing and adult-onset motor neuron disease without aggregation or loss of nuclear TDP-43. Proc. Natl Acad. Sci. USA 110, E736-E745 (2013).
-
(2013)
Proc. Natl Acad. Sci. USA
, vol.110
-
-
Arnold, E.S.1
-
68
-
-
77956155218
-
Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
-
Elden, A. C. et al. Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS. Nature 466, 1069-1075 (2010).
-
(2010)
Nature
, vol.466
, pp. 1069-1075
-
-
Elden, A.C.1
-
69
-
-
77957918535
-
TDP-43-mediated neuron loss in vivo requires RNA-binding activity
-
Voigt, A. et al. TDP-43-mediated neuron loss in vivo requires RNA-binding activity. PLoS ONE 5, e12247 (2010).
-
(2010)
PLoS ONE
, vol.5
-
-
Voigt, A.1
-
70
-
-
77953194507
-
TDP-43 mediates degeneration in a novel Drosophila model of disease caused by mutations in VCP/p97
-
Ritson, G. P. et al. TDP-43 mediates degeneration in a novel Drosophila model of disease caused by mutations in VCP/p97. J. Neurosci. 30, 7729-7739 (2010).
-
(2010)
J. Neurosci.
, vol.30
, pp. 7729-7739
-
-
Ritson, G.P.1
-
71
-
-
78751616191
-
TDP-43 regulates its mRNA levels through a negative feedback loop
-
Ayala, Y. M. et al. TDP-43 regulates its mRNA levels through a negative feedback loop. EMBO J. 30, 277-288 (2011).
-
(2011)
EMBO J
, vol.30
, pp. 277-288
-
-
Ayala, Y.M.1
-
72
-
-
4644290985
-
α-Synuclein locus duplication as a cause of familial Parkinson's disease
-
Chartier-Harlin, M. C. et al. α-synuclein locus duplication as a cause of familial Parkinson's disease. Lancet 364, 1167-1169 (2004).
-
(2004)
Lancet
, vol.364
, pp. 1167-1169
-
-
Chartier-Harlin, M.C.1
-
73
-
-
29444442794
-
APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy
-
Rovelet-Lecrux, A. et al. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nature Genet. 38, 24-26 (2006).
-
(2006)
Nature Genet
, vol.38
, pp. 24-26
-
-
Rovelet-Lecrux, A.1
-
74
-
-
84855515796
-
Deregulation of TDP-43 in amyotrophic lateral sclerosis triggers nuclear factor κb-mediated pathogenic pathways
-
Swarup, V. et al. Deregulation of TDP-43 in amyotrophic lateral sclerosis triggers nuclear factor κB-mediated pathogenic pathways. J. Exp. Med. 208, 2429-2447 (2011).
-
(2011)
J. Exp. Med.
, vol.208
, pp. 2429-2447
-
-
Swarup, V.1
-
75
-
-
0030292368
-
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
-
Sanpei, K. et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nature Genet. 14, 277-284 (1996).
-
(1996)
Nature Genet
, vol.14
, pp. 277-284
-
-
Sanpei, K.1
-
76
-
-
79959653680
-
Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2
-
Van Damme, P. et al. Expanded ATXN2 CAG repeat size in ALS identifies genetic overlap between ALS and SCA2. Neurology 76, 2066-2072 (2011).
-
(2011)
Neurology
, vol.76
, pp. 2066-2072
-
-
Van Damme, P.1
-
77
-
-
84871347709
-
Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis
-
Conforti, F. L. et al. Ataxin-1 and ataxin-2 intermediate-length PolyQ expansions in amyotrophic lateral sclerosis. Neurology 79, 2315-2320 (2012).
-
(2012)
Neurology
, vol.79
, pp. 2315-2320
-
-
Conforti, F.L.1
-
78
-
-
79953176451
-
Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients
-
Lee, T. et al. Ataxin-2 intermediate-length polyglutamine expansions in European ALS patients. Hum. Mol. Genet. 20, 1697-1700 (2011).
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 1697-1700
-
-
Lee, T.1
-
79
-
-
81955162888
-
The modulation of amyotrophic lateral sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect
-
Gispert, S. et al. The modulation of amyotrophic lateral sclerosis risk by ataxin-2 intermediate polyglutamine expansions is a specific effect. Neurobiol. Dis. 45, 356-361 (2012).
-
(2012)
Neurobiol. Dis.
, vol.45
, pp. 356-361
-
-
Gispert, S.1
-
80
-
-
79953200132
-
PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats
-
Yu, Z. et al. PolyQ repeat expansions in ATXN2 associated with ALS are CAA interrupted repeats. PLoS ONE 6, e17951 (2011).
-
(2011)
PLoS ONE
, vol.6
-
-
Yu, Z.1
-
81
-
-
84863431578
-
ALS-associated ataxin 2 polyQ expansions enhance stress-induced caspase 3 activation and increase TDP-43 pathological modifications
-
Hart, M. P. & Gitler, A. D. ALS-associated ataxin 2 polyQ expansions enhance stress-induced caspase 3 activation and increase TDP-43 pathological modifications. J. Neurosci. 32, 9133-9142 (2012).
-
(2012)
J. Neurosci.
, vol.32
, pp. 9133-9142
-
-
Hart, M.P.1
Gitler, A.D.2
-
82
-
-
84870572714
-
Inhibition of RNA lariat debranching enzyme suppresses TDP-43 toxicity in ALS disease models
-
Armakola, M. et al. Inhibition of RNA lariat debranching enzyme suppresses TDP-43 toxicity in ALS disease models. Nature Genet. 44, 1302-1309 (2012).
-
(2012)
Nature Genet
, vol.44
, pp. 1302-1309
-
-
Armakola, M.1
-
83
-
-
0029812470
-
HTAF(II)68, a novel RNA/ssDNA-binding protein with homology to the pro-oncoproteins TLS/FUS and EWS is associated with both TFIID and RNA polymerase II
-
Bertolotti, A. et al. hTAF(II)68, a novel RNA/ssDNA-binding protein with homology to the pro-oncoproteins TLS/FUS and EWS is associated with both TFIID and RNA polymerase II. EMBO J. 15, 5022-5031 (1996).
-
(1996)
EMBO J
, vol.15
, pp. 5022-5031
-
-
Bertolotti, A.1
-
84
-
-
61349156118
-
Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis
-
Kwiatkowski, T. J. Jr et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science 323, 1205-1208 (2009).
-
(2009)
Science
, vol.323
, pp. 1205-1208
-
-
Kwiatkowski Jr., T.J.1
-
85
-
-
79955502687
-
Molecular determinants and genetic modifiers of aggregation and toxicity for the ALS disease protein FUS/TLS
-
Sun, Z. et al. Molecular determinants and genetic modifiers of aggregation and toxicity for the ALS disease protein FUS/TLS. PLoS Biol 9, e1000614 (2011).
-
(2011)
PLoS Biol
, vol.9
-
-
Sun, Z.1
-
86
-
-
77953890823
-
TDP-43 and FUS/TLS: Emerging roles in RNA processing and neurodegeneration
-
Lagier-Tourenne, C. M. Polymenidou & Cleveland, D. W. TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration. Hum. Mol. Genet. 19, R46-R64 (2010).
-
(2010)
Hum. Mol. Genet.
, vol.19
-
-
Lagier-Tourenne, C.1
Polymenidou, M.2
Cleveland, D.W.3
-
87
-
-
61349162349
-
Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6
-
Vance, C. et al. Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6. Science 323, 1208-1211 (2009).
-
(2009)
Science
, vol.323
, pp. 1208-1211
-
-
Vance, C.1
-
88
-
-
77956384199
-
Novel missense and truncating mutations in FUS/TLS in familial ALS
-
Waibel, S., Neumann, M., Rabe, M., Meyer, T. & Ludolph, A. C. Novel missense and truncating mutations in FUS/TLS in familial ALS. Neurology 75, 815-817 (2010).
-
(2010)
Neurology
, vol.75
, pp. 815-817
-
-
Waibel, S.1
Neumann, M.2
Rabe, M.3
Meyer, T.4
Ludolph, A.C.5
-
89
-
-
78449287318
-
Extensive FUS-immunoreactive pathology in juvenile amyotrophic lateral sclerosis with basophilic inclusions
-
Huang, E. J. et al. Extensive FUS-immunoreactive pathology in juvenile amyotrophic lateral sclerosis with basophilic inclusions. Brain Pathol. 20, 1069-1076 (2010).
-
(2010)
Brain Pathol
, vol.20
, pp. 1069-1076
-
-
Huang, E.J.1
-
90
-
-
77955897545
-
Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations
-
Baumer, D. et al. Juvenile ALS with basophilic inclusions is a FUS proteinopathy with FUS mutations. Neurology 75, 611-618 (2010).
-
(2010)
Neurology
, vol.75
, pp. 611-618
-
-
Baumer, D.1
-
91
-
-
84865862590
-
Localization of fused in sarcoma (FUS) protein to the post-synaptic density in the brain
-
Aoki, N. et al. Localization of fused in sarcoma (FUS) protein to the post-synaptic density in the brain. Acta Neuropathol. 124, 383-394 (2012).
-
(2012)
Acta Neuropathol
, vol.124
, pp. 383-394
-
-
Aoki, N.1
-
92
-
-
0030746523
-
TLS (FUS) binds RNA in vivo and engages in nucleo-cytoplasmic shuttling
-
Zinszner, H. et al. TLS (FUS) binds RNA in vivo and engages in nucleo-cytoplasmic shuttling. J. Cell Sci. 110, 1741-1750 (1997).
-
(1997)
J. Cell Sci.
, vol.110
, pp. 1741-1750
-
-
Zinszner, H.1
-
93
-
-
77955792022
-
ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import
-
Dormann, D. et al. ALS-associated fused in sarcoma (FUS) mutations disrupt Transportin-mediated nuclear import. EMBO J. 29, 2841-2857 (2010).
-
(2010)
EMBO J
, vol.29
, pp. 2841-2857
-
-
Dormann, D.1
-
94
-
-
84869237956
-
Arginine methylation next to the PY-NLS modulates Transportin binding and nuclear import of FUS
-
Dormann, D. et al. Arginine methylation next to the PY-NLS modulates Transportin binding and nuclear import of FUS. EMBO J. 31, 4258-4275 (2012).
-
(2012)
EMBO J
, vol.31
, pp. 4258-4275
-
-
Dormann, D.1
-
95
-
-
84868152371
-
Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs
-
Lagier-Tourenne, C. et al. Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs. Nature Neurosci. 15, 1488-1497 (2012).
-
(2012)
Nature Neurosci
, vol.15
, pp. 1488-1497
-
-
Lagier-Tourenne, C.1
-
96
-
-
79959865166
-
TDP-43 and FUS: A nuclear affair
-
Dormann, D. & Haass, C. TDP-43 and FUS: a nuclear affair. Trends Neurosci. 34, 339-348 (2011).
-
(2011)
Trends Neurosci
, vol.34
, pp. 339-348
-
-
Dormann, D.1
Haass, C.2
-
97
-
-
84873033993
-
Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis
-
Farg, M. A. et al. Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis. Hum. Mol. Genet. 22, 717-728 (2012).
-
(2012)
Hum. Mol. Genet.
, vol.22
, pp. 717-728
-
-
Farg, M.A.1
-
98
-
-
84862908655
-
A yeast functional screen predicts new candidate ALS disease genes
-
Couthouis, J. et al. A yeast functional screen predicts new candidate ALS disease genes. Proc. Natl Acad. Sci. USA 108, 20881-20890 (2011).
-
(2011)
Proc. Natl Acad. Sci. USA
, vol.108
, pp. 20881-20890
-
-
Couthouis, J.1
-
99
-
-
84863507711
-
Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis
-
Couthouis, J. et al. Evaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosis. Hum. Mol. Genet. 21, 2899-2911 (2012).
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 2899-2911
-
-
Couthouis, J.1
-
100
-
-
80155157847
-
The seeds of neurodegeneration: Prion-like spreading in ALS
-
Polymenidou, M. & Cleveland, D. W. The seeds of neurodegeneration: prion-like spreading in ALS. Cell 147, 498-508 (2011).
-
(2011)
Cell
, vol.147
, pp. 498-508
-
-
Polymenidou, M.1
Cleveland, D.W.2
-
101
-
-
84862151933
-
The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease
-
King, O. D., Gitler, A. D. & Shorter, J. The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease. Brain Res. 1462, 61-80 (2012).
-
(2012)
Brain Res
, vol.1462
, pp. 61-80
-
-
King, O.D.1
Gitler, A.D.2
Shorter, J.3
-
102
-
-
77951183978
-
Prion-like disorders: Blurring the divide between transmissibility and infectivity
-
Cushman, M. et al. Prion-like disorders: blurring the divide between transmissibility and infectivity. J. Cell Sci. 123, 1191-1201 (2010).
-
(2010)
J. Cell Sci.
, vol.123
, pp. 1191-1201
-
-
Cushman, M.1
-
103
-
-
79952743365
-
Prion-like propagation of mutant superoxide dismutase-1 misfolding in neuronal cells
-
Munch, C., O'Brien, J. & Bertolotti, A. Prion-like propagation of mutant superoxide dismutase-1 misfolding in neuronal cells. Proc. Natl Acad. Sci. USA 108, 3548-3553 (2011).
-
(2011)
Proc. Natl Acad. Sci. USA
, vol.108
, pp. 3548-3553
-
-
Munch, C.1
O'Brien, J.2
Bertolotti, A.3
-
104
-
-
80053652133
-
Intermolecular transmission of superoxide dismutase 1 misfolding in living cells
-
Grad, L. I. et al. Intermolecular transmission of superoxide dismutase 1 misfolding in living cells. Proc. Natl Acad. Sci. USA 108, 16398-16403 (2011).
-
(2011)
Proc. Natl Acad. Sci. USA
, vol.108
, pp. 16398-16403
-
-
Grad, L.I.1
-
105
-
-
70349581626
-
ALS motor phenotype heterogeneity, focality, and spread: Deconstructing motor neuron degeneration
-
Ravits, J. M. & La Spada, A. R. ALS motor phenotype heterogeneity, focality, and spread: deconstructing motor neuron degeneration. Neurology 73, 805-811 (2009).
-
(2009)
Neurology
, vol.73
, pp. 805-811
-
-
Ravits, J.M.1
La Spada, A.R.2
-
106
-
-
84869109864
-
Pathological α-synuclein transmission initiates Parkinson-like neurodegeneration in nontransgenic mice
-
Luk, K. C. et al. Pathological α-synuclein transmission initiates Parkinson-like neurodegeneration in nontransgenic mice. Science 338, 949-953 (2012).
-
(2012)
Science
, vol.338
, pp. 949-953
-
-
Luk, K.C.1
-
107
-
-
80054832080
-
Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
-
DeJesus-Hernandez, M. et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72, 245-256 (2011).
-
(2011)
Neuron
, vol.72
, pp. 245-256
-
-
Dejesus-Hernandez, M.1
-
108
-
-
80054837386
-
A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
-
Renton, A. E. et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72, 257-268 (2011).
-
(2011)
Neuron
, vol.72
, pp. 257-268
-
-
Renton, A.E.1
-
109
-
-
83555166183
-
A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: A gene identification study
-
Gijselinck, I. et al. A C9orf72 promoter repeat expansion in a Flanders-Belgian cohort with disorders of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum: a gene identification study. Lancet Neurol. 11, 54-65 (2012).
-
(2012)
Lancet Neurol.
, vol.11
, pp. 54-65
-
-
Gijselinck, I.1
-
110
-
-
84858622829
-
Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: A cross-sectional study
-
Majounie, E. et al. Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. Lancet Neurol. 11, 323-330 (2012).
-
(2012)
Lancet Neurol
, vol.11
, pp. 323-330
-
-
Majounie, E.1
-
111
-
-
84866093352
-
C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts
-
Dobson-Stone, C. et al. C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts. Neurology 79, 995-1001 (2012).
-
(2012)
Neurology
, vol.79
, pp. 995-1001
-
-
Dobson-Stone, C.1
-
112
-
-
84874246696
-
The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs
-
Levine, T. P., Daniels, R. D., Gatta, A. T., Wong, L. H. & Hayes, M. J. The product of C9orf72, a gene strongly implicated in neurodegeneration, is structurally related to DENN Rab-GEFs. Bioinformatics 29, 499-503 (2013).
-
(2013)
Bioinformatics
, vol.29
, pp. 499-503
-
-
Levine, T.P.1
Daniels, R.D.2
Gatta, A.T.3
Wong, L.H.4
Hayes, M.J.5
-
113
-
-
84857522741
-
Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72
-
Chio, A. et al. Clinical characteristics of patients with familial amyotrophic lateral sclerosis carrying the pathogenic GGGGCC hexanucleotide repeat expansion of C9ORF72. Brain 135, 784-793 (2012).
-
(2012)
Brain
, vol.135
, pp. 784-793
-
-
Chio, A.1
-
114
-
-
84864083825
-
Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes
-
Millecamps, S. et al. Phenotype difference between ALS patients with expanded repeats in C9ORF72 and patients with mutations in other ALS-related genes. J. Med. Genet. 49, 258-263 (2012).
-
(2012)
J. Med. Genet.
, vol.49
, pp. 258-263
-
-
Millecamps, S.1
-
115
-
-
84862756869
-
Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion
-
Brettschneider, J. et al. Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion. Acta Neuropathol. 123, 825-839 (2012).
-
(2012)
Acta Neuropathol
, vol.123
, pp. 825-839
-
-
Brettschneider, J.1
-
116
-
-
84857050135
-
Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: A population-based cohort study
-
Byrne, S. et al. Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study. Lancet Neurol. 11, 232-240 (2012).
-
(2012)
Lancet Neurol.
, vol.11
, pp. 232-240
-
-
Byrne, S.1
-
117
-
-
84863393065
-
Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations
-
Snowden, J. S. et al. Distinct clinical and pathological characteristics of frontotemporal dementia associated with C9ORF72 mutations. Brain 135, 693-708 (2012).
-
(2012)
Brain
, vol.135
, pp. 693-708
-
-
Snowden, J.S.1
-
118
-
-
79953814616
-
Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p
-
Pearson, J. P. et al. Familial frontotemporal dementia with amyotrophic lateral sclerosis and a shared haplotype on chromosome 9p. J. Neurol. 258, 647-655 (2011).
-
(2011)
J. Neurol.
, vol.258
, pp. 647-655
-
-
Pearson, J.P.1
-
119
-
-
84865071988
-
Evidence for an oligogenic basis of amyotrophic lateral sclerosis
-
van Blitterswijk, M. et al. Evidence for an oligogenic basis of amyotrophic lateral sclerosis. Hum. Mol. Genet. 21, 3776-3784 (2012).
-
(2012)
Hum. Mol. Genet.
, vol.21
, pp. 3776-3784
-
-
Van Blitterswijk, M.1
-
120
-
-
84870041158
-
How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: Can we learn from other noncoding repeat expansion disorders?
-
van Blitterswijk, M. Dejesus-Hernandez, M. & Rademakers, R. How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders? Curr. Opin. Neurol. 25, 689-700 (2012).
-
(2012)
Curr. Opin. Neurol.
, vol.25
, pp. 689-700
-
-
Van Blitterswijk, M.1
Dejesus-Hernandez, M.2
Rademakers, R.3
-
121
-
-
84857587514
-
Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p
-
Hsiung, G. Y. et al. Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p. Brain 135, 709-722 (2012).
-
(2012)
Brain
, vol.135
, pp. 709-722
-
-
Hsiung, G.Y.1
-
122
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano, V. et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271, 1423-1427 (1996).
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
-
123
-
-
33746910649
-
Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21
-
Cruts, M. et al. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature 442, 920-924 (2006).
-
(2006)
Nature
, vol.442
, pp. 920-924
-
-
Cruts, M.1
-
124
-
-
33746919083
-
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
-
Baker, M. et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature 442, 916-919 (2006).
-
(2006)
Nature
, vol.442
, pp. 916-919
-
-
Baker, M.1
-
125
-
-
0026603841
-
Myotonic dystrophy mutation: An unstable CTG repeat in the 3Ŷ untranslated region of the gene
-
Mahadevan, M. et al. Myotonic dystrophy mutation: an unstable CTG repeat in the 3Ŷ untranslated region of the gene. Science 255, 1253-1255 (1992).
-
(1992)
Science
, vol.255
, pp. 1253-1255
-
-
Mahadevan, M.1
-
126
-
-
0035800434
-
Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9
-
Liquori, C. L. et al. Myotonic dystrophy type 2 caused by a CCTG expansion in intron 1 of ZNF9. Science 293, 864-867 (2001).
-
(2001)
Science
, vol.293
, pp. 864-867
-
-
Liquori, C.L.1
-
127
-
-
0027122152
-
Molecular basis of myotonic dystrophy: Expansion of a trinucleotide (CTG) repeat at the 3Ŷ end of a transcript encoding a protein kinase family member
-
Brook, J. D. et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3Ŷ end of a transcript encoding a protein kinase family member. Cell 69, 385 (1992).
-
(1992)
Cell
, vol.69
, pp. 385
-
-
Brook, J.D.1
-
128
-
-
0036347525
-
Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy
-
Mankodi, A. et al. Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy. Mol. Cell 10, 35-44 (2002).
-
(2002)
Mol. Cell
, vol.10
, pp. 35-44
-
-
Mankodi, A.1
-
129
-
-
0032076126
-
Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy
-
Philips, A. V., Timchenko, L. T. & Cooper, T. A. Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. Science 280, 737-741 (1998).
-
(1998)
Science
, vol.280
, pp. 737-741
-
-
Philips, A.V.1
Timchenko, L.T.2
Cooper, T.A.3
-
130
-
-
0034782506
-
Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1
-
Sergeant, N. et al. Dysregulation of human brain microtubule-associated tau mRNA maturation in myotonic dystrophy type 1. Hum. Mol. Genet. 10, 2143-2155 (2001).
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 2143-2155
-
-
Sergeant, N.1
-
131
-
-
0034282958
-
Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy
-
Miller, J. W. et al. Recruitment of human muscleblind proteins to (CUG)(n) expansions associated with myotonic dystrophy. EMBO J. 19, 4439-4448 (2000).
-
(2000)
EMBO J
, vol.19
, pp. 4439-4448
-
-
Miller, J.W.1
-
132
-
-
84863275756
-
Muscleblind-like 1 knockout mice reveal novel splicing defects in the myotonic dystrophy brain
-
Suenaga, K. et al. Muscleblind-like 1 knockout mice reveal novel splicing defects in the myotonic dystrophy brain. PLoS ONE 7, e33218 (2012).
-
(2012)
PLoS ONE
, vol.7
-
-
Suenaga, K.1
-
133
-
-
0346243804
-
A muscleblind knockout model for myotonic dystrophy
-
Kanadia, R. N. et al. A muscleblind knockout model for myotonic dystrophy. Science 302, 1978-1980 (2003).
-
(2003)
Science
, vol.302
, pp. 1978-1980
-
-
Kanadia, R.N.1
-
134
-
-
84871801926
-
C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes
-
Fratta, P. et al. C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Sci. Rep. 2, 1016 (2012).
-
(2012)
Sci. Rep.
, vol.2
, pp. 1016
-
-
Fratta, P.1
-
135
-
-
79953745706
-
Repeat associated non-ATG translation initiation: One DNA, two transcripts, seven reading frames, potentially nine toxic entities!
-
Pearson, C. E. Repeat associated non-ATG translation initiation: one DNA, two transcripts, seven reading frames, potentially nine toxic entities! PLoS Genet 7, e1002018 (2011).
-
(2011)
PLoS Genet
, vol.7
-
-
Pearson, C.E.1
-
136
-
-
78651105614
-
Non-ATG-initiated translation directed by microsatellite expansions
-
Zu, T. et al. Non-ATG-initiated translation directed by microsatellite expansions. Proc. Natl Acad. Sci. USA 108, 260-265 (2011).
-
(2011)
Proc. Natl Acad. Sci. USA
, vol.108
, pp. 260-265
-
-
Zu, T.1
-
137
-
-
84874962380
-
The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS
-
7 Feb, doi:10.1126/science.1232927
-
Mori, K. et al. The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS. Science 7 Feb 2013 (doi:10.1126/ science.1232927).
-
(2013)
Science
-
-
Mori, K.1
-
138
-
-
84874272095
-
Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS
-
Ash, P. E. et al. Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS. Neuron 77, 639-646 (2013).
-
(2013)
Neuron
, vol.77
, pp. 639-646
-
-
Ash, P.E.1
-
139
-
-
0027738038
-
Widespread multiple system degeneration in a patient with familial amyotrophic lateral sclerosis
-
Takahashi, H. et al. Widespread multiple system degeneration in a patient with familial amyotrophic lateral sclerosis. J. Neurol. Sci. 120, 15-21 (1993).
-
(1993)
J. Neurol. Sci.
, vol.120
, pp. 15-21
-
-
Takahashi, H.1
-
140
-
-
77954103868
-
Motor neuron diversity in development and disease
-
Kanning, K. C., Kaplan, A. & Henderson, C. E. Motor neuron diversity in development and disease. Annu. Rev. Neurosci. 33, 409-440 (2010).
-
(2010)
Annu. Rev. Neurosci.
, vol.33
, pp. 409-440
-
-
Kanning, K.C.1
Kaplan, A.2
Henderson, C.E.3
-
141
-
-
33344462702
-
Selective vulnerability and pruning of phasic motoneuron axons in motoneuron disease alleviated by CNTF
-
Pun, S. et al. Selective vulnerability and pruning of phasic motoneuron axons in motoneuron disease alleviated by CNTF. Nature Neurosci. 9, 408-419 (2006).
-
(2006)
Nature Neurosci.
, vol.9
, pp. 408-419
-
-
Pun, S.1
-
142
-
-
84868656581
-
EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans
-
Van Hoecke, A. et al. EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans. Nature Med. 18, 1418-1422 (2012).
-
(2012)
Nature Med
, vol.18
, pp. 1418-1422
-
-
Van Hoecke, A.1
-
143
-
-
36749049874
-
Glutamate excitotoxicity and therapeutic targets for amyotrophic lateral sclerosis
-
Corona, J. C., Tovar-y-Romo, L. B. & Tapia, R. Glutamate excitotoxicity and therapeutic targets for amyotrophic lateral sclerosis. Expert Opin. Ther. Targets 11, 1415-1428 (2007).
-
(2007)
Expert Opin. Ther. Targets
, vol.11
, pp. 1415-1428
-
-
Corona, J.C.1
Tovar-Y-Romo, L.B.2
Tapia, R.3
-
144
-
-
0026597010
-
Decreased glutamate transport by the brain and spinal cord in amyotrophic lateral sclerosis
-
Rothstein, J. D., Martin, L. J. & Kuncl, R. W. Decreased glutamate transport by the brain and spinal cord in amyotrophic lateral sclerosis. N. Engl. J. Med. 326, 1464-1468 (1992).
-
(1992)
N. Engl. J. Med.
, vol.326
, pp. 1464-1468
-
-
Rothstein, J.D.1
Martin, L.J.2
Kuncl, R.W.3
-
145
-
-
0031051485
-
ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly progressive disease with SOD1-containing inclusions
-
Bruijn, L. I. et al. ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly progressive disease with SOD1-containing inclusions. Neuron 18, 327-338 (1997).
-
(1997)
Neuron
, vol.18
, pp. 327-338
-
-
Bruijn, L.I.1
-
146
-
-
77952194773
-
Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase
-
Mitchell, J. et al. Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase. Proc. Natl Acad. Sci. USA 107, 7556-7561 (2010).
-
(2010)
Proc. Natl Acad. Sci. USA
, vol.107
, pp. 7556-7561
-
-
Mitchell, J.1
-
147
-
-
84857199050
-
Glial D-serine gates NMDA receptors at excitatory synapses in prefrontal cortex
-
Fossat, P. et al. Glial D-serine gates NMDA receptors at excitatory synapses in prefrontal cortex. Cereb. Cortex 22, 595-606 (2012).
-
(2012)
Cereb. Cortex
, vol.22
, pp. 595-606
-
-
Fossat, P.1
-
148
-
-
34250656185
-
Toxicity from different SOD1 mutants dysregulates the complement system and the neuronal regenerative response in ALS motor neurons
-
Lobsiger, C. S., Boillee, S. & Cleveland, D. W. Toxicity from different SOD1 mutants dysregulates the complement system and the neuronal regenerative response in ALS motor neurons. Proc. Natl Acad. Sci. USA 104, 7319-7326 (2007).
-
(2007)
Proc. Natl Acad. Sci. USA
, vol.104
, pp. 7319-7326
-
-
Lobsiger, C.S.1
Boillee, S.2
Cleveland, D.W.3
-
149
-
-
0025718815
-
A single amino acid residue determines the Ca2+ permeability of AMPA-selective glutamate receptor channels
-
Mishina, M. et al. A single amino acid residue determines the Ca2+ permeability of AMPA-selective glutamate receptor channels. Biochem. Biophys. Res. Commun. 180, 813-821 (1991).
-
(1991)
Biochem. Biophys. Res. Commun.
, vol.180
, pp. 813-821
-
-
Mishina, M.1
-
150
-
-
35548983991
-
Astrocytes regulate GluR2 expression in motor neurons and their vulnerability to excitotoxicity
-
Van Damme, P. et al. Astrocytes regulate GluR2 expression in motor neurons and their vulnerability to excitotoxicity. Proc. Natl Acad. Sci. USA 104, 14825-14830 (2007).
-
(2007)
Proc. Natl Acad. Sci. USA
, vol.104
, pp. 14825-14830
-
-
Van Damme, P.1
-
151
-
-
0034212794
-
Calcium dynamics and buffering in oculomotor neurones from mouse that are particularly resistant during amyotrophic lateral sclerosis (ALS)-related motoneurone disease
-
Vanselow, B. K. & Keller, B. U. Calcium dynamics and buffering in oculomotor neurones from mouse that are particularly resistant during amyotrophic lateral sclerosis (ALS)-related motoneurone disease. J. Physiol. 525, 433-445 (2000).
-
(2000)
J. Physiol.
, vol.525
, pp. 433-445
-
-
Vanselow, B.K.1
Keller, B.U.2
-
152
-
-
39749188753
-
Astrocytes as determinants of disease progression in inherited amyotrophic lateral sclerosis
-
Yamanaka, K. et al. Astrocytes as determinants of disease progression in inherited amyotrophic lateral sclerosis. Nature Neurosci. 11, 251-253 (2008).
-
(2008)
Nature Neurosci
, vol.11
, pp. 251-253
-
-
Yamanaka, K.1
-
153
-
-
33749056809
-
ALS: A disease of motor neurons and their nonneuronal neighbors
-
Boillee, S., Vande Velde, C. & Cleveland, D. W. ALS: a disease of motor neurons and their nonneuronal neighbors. Neuron 52, 39-59 (2006).
-
(2006)
Neuron
, vol.52
, pp. 39-59
-
-
Boillee, S.1
Vande Velde, C.2
Cleveland, D.W.3
-
154
-
-
33744798774
-
Onset and progression in inherited ALS determined by motor neurons and microglia
-
Boillee, S. et al. Onset and progression in inherited ALS determined by motor neurons and microglia. Science 312, 1389-1392 (2006).
-
(2006)
Science
, vol.312
, pp. 1389-1392
-
-
Boillee, S.1
-
155
-
-
78650550891
-
Astrocyte loss of mutant SOD1 delays ALS disease onset and progression in G85R transgenic mice
-
Wang, L., Gutmann, D. H. & Roos, R. P. Astrocyte loss of mutant SOD1 delays ALS disease onset and progression in G85R transgenic mice. Hum. Mol. Genet. 20, 286-293 (2011).
-
(2011)
Hum. Mol. Genet.
, vol.20
, pp. 286-293
-
-
Wang, L.1
Gutmann, D.H.2
Roos, R.P.3
-
156
-
-
67649486844
-
The effect of mutant SOD1 dismutase activity on non-cell autonomous degeneration in familial amyotrophic lateral sclerosis
-
Wang, L. et al. The effect of mutant SOD1 dismutase activity on non-cell autonomous degeneration in familial amyotrophic lateral sclerosis. Neurobiol. Dis. 35, 234-240 (2009).
-
(2009)
Neurobiol. Dis.
, vol.35
, pp. 234-240
-
-
Wang, L.1
-
157
-
-
80052783545
-
Astrocytes from familial and sporadic ALS patients are toxic to motor neurons
-
Haidet-Phillips, A. M. et al. Astrocytes from familial and sporadic ALS patients are toxic to motor neurons. Nature Biotech. 29, 824-828 (2011).
-
(2011)
Nature Biotech.
, vol.29
, pp. 824-828
-
-
Haidet-Phillips, A.M.1
-
158
-
-
79958022133
-
The microglial-motoneuron dialogue in ALS
-
Appel, S. H. et al. The microglial-motoneuron dialogue in ALS. Acta Myol. 30, 4-8 (2011).
-
(2011)
Acta Myol
, vol.30
, pp. 4-8
-
-
Appel, S.H.1
-
159
-
-
84865987121
-
Modulating inflammatory monocytes with a unique microRNA gene signature ameliorates murine ALS
-
Butovsky, O. et al. Modulating inflammatory monocytes with a unique microRNA gene signature ameliorates murine ALS. J. Clin. Invest. 122, 3063-3087 (2012).
-
(2012)
J. Clin. Invest.
, vol.122
, pp. 3063-3087
-
-
Butovsky, O.1
-
160
-
-
55749110043
-
CD4+ T cells support glial neuroprotection, slow disease progression, and modify glial morphology in an animal model of inherited ALS
-
Beers, D. R. et al. CD4+ T cells support glial neuroprotection, slow disease progression, and modify glial morphology in an animal model of inherited ALS. Proc. Natl Acad. Sci. USA 105, 15558-15563 (2008).
-
(2008)
Proc. Natl Acad. Sci. USA
, vol.105
, pp. 15558-15563
-
-
Beers, D.R.1
-
161
-
-
56649100689
-
T lymphocytes potentiate endogenous neuroprotective inflammation in a mouse model of ALS
-
Chiu, I. M. et al. T lymphocytes potentiate endogenous neuroprotective inflammation in a mouse model of ALS. Proc. Natl Acad. Sci. USA 105, 17913-17918 (2008).
-
(2008)
Proc. Natl Acad. Sci. USA
, vol.105
, pp. 17913-17918
-
-
Chiu, I.M.1
-
162
-
-
0027473452
-
Lymphocytic infiltrates in the spinal cord in amyotrophic lateral sclerosis
-
Engelhardt, J. I., Tajti, J. & Appel, S. H. Lymphocytic infiltrates in the spinal cord in amyotrophic lateral sclerosis. Arch. Neurol. 50, 30-36 (1993).
-
(1993)
Arch. Neurol.
, vol.50
, pp. 30-36
-
-
Engelhardt, J.I.1
Tajti, J.2
Appel, S.H.3
-
163
-
-
79957528028
-
Endogenous regulatory T lymphocytes ameliorate amyotrophic lateral sclerosis in mice and correlate with disease progression in patients with amyotrophic lateral sclerosis
-
Beers, D. R. et al. Endogenous regulatory T lymphocytes ameliorate amyotrophic lateral sclerosis in mice and correlate with disease progression in patients with amyotrophic lateral sclerosis. Brain 134, 1293-1314 (2011).
-
(2011)
Brain
, vol.134
, pp. 1293-1314
-
-
Beers, D.R.1
-
164
-
-
84871988603
-
Regulatory T-lymphocytes mediate amyotrophic lateral sclerosis progression and survival
-
Henkel, J. S. et al. Regulatory T-lymphocytes mediate amyotrophic lateral sclerosis progression and survival. EMBO Mol. Med. 5, 64-79 (2012).
-
(2012)
EMBO Mol. Med.
, vol.5
, pp. 64-79
-
-
Henkel, J.S.1
-
165
-
-
84864200035
-
Oligodendroglia metabolically support axons and contribute to neurodegeneration
-
Lee, Y. et al. Oligodendroglia metabolically support axons and contribute to neurodegeneration. Nature 487, 443-448 (2012).
-
(2012)
Nature
, vol.487
, pp. 443-448
-
-
Lee, Y.1
-
166
-
-
84874288591
-
Oligodendrocyte dysfunction in the pathogenesis of amyotrophic lateral sclerosis
-
Philips, T. et al. Oligodendrocyte dysfunction in the pathogenesis of amyotrophic lateral sclerosis. Brain 136, 471-482 (2013)
-
(2013)
Brain
, vol.136
, pp. 471-482
-
-
Philips, T.1
-
167
-
-
33845876647
-
Gene transfer demonstrates that muscle is not a primary target for non-cell-autonomous toxicity in familial amyotrophic lateral sclerosis
-
Miller, T. M. et al. Gene transfer demonstrates that muscle is not a primary target for non-cell-autonomous toxicity in familial amyotrophic lateral sclerosis. Proc. Natl Acad. Sci. USA 103, 19546-19551 (2006).
-
(2006)
Proc. Natl Acad. Sci. USA
, vol.103
, pp. 19546-19551
-
-
Miller, T.M.1
-
168
-
-
72149131804
-
MicroRNA-206 delays ALS progression and promotes regeneration of neuromuscular synapses in mice
-
Williams, A. H. et al. MicroRNA-206 delays ALS progression and promotes regeneration of neuromuscular synapses in mice. Science 326, 1549-1554 (2009).
-
(2009)
Science
, vol.326
, pp. 1549-1554
-
-
Williams, A.H.1
-
169
-
-
70449433875
-
Activated protein C therapy slows ALS-like disease in mice by transcriptionally inhibiting SOD1 in motor neurons and microglia cells
-
Zhong, Z. et al. Activated protein C therapy slows ALS-like disease in mice by transcriptionally inhibiting SOD1 in motor neurons and microglia cells. J. Clin. Invest. 119, 3437-3449 (2009).
-
(2009)
J. Clin. Invest.
, vol.119
, pp. 3437-3449
-
-
Zhong, Z.1
-
170
-
-
41149097086
-
ALS-causing SOD1 mutants generate vascular changes prior to motor neuron degeneration
-
Zhong, Z. et al. ALS-causing SOD1 mutants generate vascular changes prior to motor neuron degeneration. Nature Neurosci. 11, 420-422 (2008).
-
(2008)
Nature Neurosci
, vol.11
, pp. 420-422
-
-
Zhong, Z.1
-
171
-
-
44649152645
-
Mutant SOD1 in cell types other than motor neurons and oligodendrocytes accelerates onset of disease in ALS mice
-
Yamanaka, K. et al. Mutant SOD1 in cell types other than motor neurons and oligodendrocytes accelerates onset of disease in ALS mice. Proc. Natl Acad. Sci. USA 105, 7594-7599 (2008).
-
(2008)
Proc. Natl Acad. Sci. USA
, vol.105
, pp. 7594-7599
-
-
Yamanaka, K.1
-
172
-
-
67650498361
-
Axon guidance proteins: Novel therapeutic targets for ALS?
-
Schmidt, E. R., Pasterkamp, R. J. & van den Berg, L. H. Axon guidance proteins: novel therapeutic targets for ALS? Prog. Neurobiol. 88, 286-301 (2009).
-
(2009)
Prog. Neurobiol.
, vol.88
, pp. 286-301
-
-
Schmidt, E.R.1
Pasterkamp, R.J.2
Van Den Berg, L.H.3
-
173
-
-
0028353603
-
Neurofilament light and polyadenylated mRNA levels are decreased in amyotrophic lateral sclerosis motor neurons
-
Bergeron, C. et al. Neurofilament light and polyadenylated mRNA levels are decreased in amyotrophic lateral sclerosis motor neurons. J. Neuropathol. Exp. Neurol. 53, 221-230 (1994).
-
(1994)
J. Neuropathol. Exp. Neurol.
, vol.53
, pp. 221-230
-
-
Bergeron, C.1
-
174
-
-
34249751076
-
TDP43 is a human low molecular weight neurofilament (hNFL) mRNA-binding protein
-
Strong, M. J. et al. TDP43 is a human low molecular weight neurofilament (hNFL) mRNA-binding protein. Mol. Cell Neurosci. 35, 320-327 (2007).
-
(2007)
Mol. Cell Neurosci.
, vol.35
, pp. 320-327
-
-
Strong, M.J.1
-
175
-
-
73949134014
-
Tar DNA binding protein of 43 kDa (TDP-43), 14-3-3 proteins and copper/zinc superoxide dismutase (SOD1) interact to modulate NFL mRNA stability. Implications for altered RNA processing in amyotrophic lateral sclerosis (ALS)
-
Volkening, K. et al. Tar DNA binding protein of 43 kDa (TDP-43), 14-3-3 proteins and copper/zinc superoxide dismutase (SOD1) interact to modulate NFL mRNA stability. Implications for altered RNA processing in amyotrophic lateral sclerosis (ALS). Brain Res. 1305, 168-182 (2009).
-
(2009)
Brain Res
, vol.1305
, pp. 168-182
-
-
Volkening, K.1
-
176
-
-
8544222694
-
A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis
-
Gros-Louis, F. et al. A frameshift deletion in peripherin gene associated with amyotrophic lateral sclerosis. J. Biol. Chem. 279, 45951-45956 (2004).
-
(2004)
J. Biol. Chem.
, vol.279
, pp. 45951-45956
-
-
Gros-Louis, F.1
-
177
-
-
0028001606
-
Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis
-
Figlewicz, D. A. et al. Variants of the heavy neurofilament subunit are associated with the development of amyotrophic lateral sclerosis. Hum. Mol. Genet. 3, 1757-1761 (1994).
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 1757-1761
-
-
Figlewicz, D.A.1
-
178
-
-
0032427646
-
Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS)
-
Tomkins, J. et al. Novel insertion in the KSP region of the neurofilament heavy gene in amyotrophic lateral sclerosis (ALS). Neuroreport 9, 3967-3970 (1998).
-
(1998)
Neuroreport
, vol.9
, pp. 3967-3970
-
-
Tomkins, J.1
-
179
-
-
0037382240
-
Mutant dynactin in motor neuron disease
-
Puls, I. et al. Mutant dynactin in motor neuron disease. Nature Genet. 33, 455-456 (2003).
-
(2003)
Nature Genet
, vol.33
, pp. 455-456
-
-
Puls, I.1
-
180
-
-
4143084861
-
Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS
-
Munch, C. et al. Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS. Neurology 63, 724-726 (2004).
-
(2004)
Neurology
, vol.63
, pp. 724-726
-
-
Munch, C.1
-
181
-
-
84865235172
-
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
-
Wu, C. H. et al. Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Nature 488, 499-503 (2012).
-
(2012)
Nature
, vol.488
, pp. 499-503
-
-
Wu, C.H.1
-
182
-
-
0036511042
-
EphA4 catalytic activity causes inhibition of RhoA GTPase in Xenopus laevis embryos
-
Winning, R. S. et al. EphA4 catalytic activity causes inhibition of RhoA GTPase in Xenopus laevis embryos. Differentiation 70, 46-55 (2002).
-
(2002)
Differentiation
, vol.70
, pp. 46-55
-
-
Winning, R.S.1
-
183
-
-
43449099127
-
The amyotrophic lateral sclerosis 8 protein VAPB is cleaved, secreted, and acts as a ligand for Eph receptors
-
Tsuda, H. et al. The amyotrophic lateral sclerosis 8 protein VAPB is cleaved, secreted, and acts as a ligand for Eph receptors. Cell 133, 963-977 (2008).
-
(2008)
Cell
, vol.133
, pp. 963-977
-
-
Tsuda, H.1
-
184
-
-
6344257200
-
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis
-
Nishimura, A. L. et al. A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. Am. J. Hum. Genet. 75, 822-831 (2004).
-
(2004)
Am. J. Hum. Genet.
, vol.75
, pp. 822-831
-
-
Nishimura, A.L.1
-
185
-
-
0034785509
-
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis
-
Yang, Y. et al. The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis. Nature Genet. 29, 160-165 (2001).
-
(2001)
Nature Genet
, vol.29
, pp. 160-165
-
-
Yang, Y.1
-
186
-
-
38449103389
-
Diverse roles of Rho family GTPases in neuronal development, survival, and death
-
Linseman, D. A. & Loucks, F. A. Diverse roles of Rho family GTPases in neuronal development, survival, and death. Front. Biosci. 13, 657-676 (2008).
-
(2008)
Front. Biosci.
, vol.13
, pp. 657-676
-
-
Linseman, D.A.1
Loucks, F.A.2
-
187
-
-
0036403767
-
Nogo provides a molecular marker for diagnosis of amyotrophic lateral sclerosis
-
Dupuis, L. et al. Nogo provides a molecular marker for diagnosis of amyotrophic lateral sclerosis. Neurobiol. Dis. 10, 358-365 (2002).
-
(2002)
Neurobiol. Dis.
, vol.10
, pp. 358-365
-
-
Dupuis, L.1
-
188
-
-
33750527780
-
The neurite outgrowth inhibitor Nogo-A promotes denervation in an amyotrophic lateral sclerosis model
-
Jokic, N. et al. The neurite outgrowth inhibitor Nogo-A promotes denervation in an amyotrophic lateral sclerosis model. EMBO Rep. 7, 1162-1167 (2006).
-
(2006)
EMBO Rep
, vol.7
, pp. 1162-1167
-
-
Jokic, N.1
-
189
-
-
79958036737
-
VEGF mediates commissural axon chemoattraction through its receptor Flk1
-
Ruiz de Almodovar, C. et al. VEGF mediates commissural axon chemoattraction through its receptor Flk1. Neuron 70, 966-978 (2011).
-
(2011)
Neuron
, vol.70
, pp. 966-978
-
-
Ruiz De Almodovar, C.1
-
190
-
-
0343920277
-
Abnormal blood vessel development and lethality in embryos lacking a single VEGF allele
-
Carmeliet, P. et al. Abnormal blood vessel development and lethality in embryos lacking a single VEGF allele. Nature 380, 435-439 (1996).
-
(1996)
Nature
, vol.380
, pp. 435-439
-
-
Carmeliet, P.1
-
191
-
-
16644382257
-
Treatment of motoneuron degeneration by intracerebroventricular delivery of VEGF in a rat model of ALS
-
Storkebaum, E. et al. Treatment of motoneuron degeneration by intracerebroventricular delivery of VEGF in a rat model of ALS. Nature Neurosci. 8, 85-92 (2005).
-
(2005)
Nature Neurosci
, vol.8
, pp. 85-92
-
-
Storkebaum, E.1
-
192
-
-
67049155508
-
Reduced expression of the Kinesin- Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis
-
Landers, J. E. et al. Reduced expression of the Kinesin- Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis. Proc. Natl Acad. Sci. USA 106, 9004-9009 (2009).
-
(2009)
Proc. Natl Acad. Sci. USA
, vol.106
, pp. 9004-9009
-
-
Landers, J.E.1
-
193
-
-
77955445286
-
Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients
-
Traynor, B. J. et al. Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients. Proc. Natl Acad. Sci. USA 107, 12335-12338 (2010).
-
(2010)
Proc. Natl Acad. Sci. USA
, vol.107
, pp. 12335-12338
-
-
Traynor, B.J.1
-
194
-
-
70349592269
-
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
-
van Es, M. A. et al. Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis. Nature Genet. 41, 1083-1087 (2009).
-
(2009)
Nature Genet
, vol.41
, pp. 1083-1087
-
-
Van Es, M.A.1
-
195
-
-
84855795589
-
UNC13A is a modifier of survival in amyotrophic lateral sclerosis
-
Diekstra, F. P. et al. UNC13A is a modifier of survival in amyotrophic lateral sclerosis. Neurobiol. Aging 33, 630.e3-630.e8 (2012).
-
(2012)
Neurobiol. Aging
, vol.33
-
-
Diekstra, F.P.1
-
196
-
-
58749097964
-
Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration
-
Simpson, C. L. et al. Variants of the elongator protein 3 (ELP3) gene are associated with motor neuron degeneration. Hum. Mol. Genet. 18, 472-481 (2009).
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 472-481
-
-
Simpson, C.L.1
-
197
-
-
79952986086
-
DNA repair defects sensitize cells to anticodon nuclease yeast killer toxins
-
Klassen, R. et al. DNA repair defects sensitize cells to anticodon nuclease yeast killer toxins. Mol. Genet. Genom. 285, 185-195 (2011).
-
(2011)
Mol. Genet. Genom.
, vol.285
, pp. 185-195
-
-
Klassen, R.1
-
198
-
-
83355177262
-
ELP3 controls active zone morphology by acetylating the ELKS family member Bruchpilot
-
Miskiewicz, K. et al. ELP3 controls active zone morphology by acetylating the ELKS family member Bruchpilot. Neuron 72, 776-788 (2011).
-
(2011)
Neuron
, vol.72
, pp. 776-788
-
-
Miskiewicz, K.1
-
199
-
-
77956850818
-
TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia
-
Mackenzie, I. R., Rademakers, R. & Neumann, M. TDP-43 and FUS in amyotrophic lateral sclerosis and frontotemporal dementia. Lancet Neurol. 9, 995-1007 (2010).
-
(2010)
Lancet Neurol
, vol.9
, pp. 995-1007
-
-
MacKenzie, I.R.1
Rademakers, R.2
Neumann, M.3
-
200
-
-
67650741437
-
Frontotemporal dementia and motor neurone disease: Overlapping clinic-pathological disorders
-
Lillo, P. & Hodges, J. R. Frontotemporal dementia and motor neurone disease: overlapping clinic-pathological disorders. J. Clin. Neurosci. 16, 1131-1135 (2009).
-
(2009)
J. Clin. Neurosci.
, vol.16
, pp. 1131-1135
-
-
Lillo, P.1
Hodges, J.R.2
-
201
-
-
34249946466
-
Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations
-
Mackenzie, I. R. et al. Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations. Ann. Neurol. 61, 427-434 (2007).
-
(2007)
Ann. Neurol.
, vol.61
, pp. 427-434
-
-
MacKenzie, I.R.1
-
202
-
-
80052924149
-
Motor neuron dysfunction in frontotemporal dementia
-
Burrell, J. R. et al. Motor neuron dysfunction in frontotemporal dementia. Brain 134, 2582-2594 (2011).
-
(2011)
Brain
, vol.134
, pp. 2582-2594
-
-
Burrell, J.R.1
-
203
-
-
0037044240
-
The overlap of amyotrophic lateral sclerosis and frontotemporal dementia
-
Lomen-Hoerth, C., Anderson, T. & Miller, B. The overlap of amyotrophic lateral sclerosis and frontotemporal dementia. Neurology 59, 1077-1079 (2002).
-
(2002)
Neurology
, vol.59
, pp. 1077-1079
-
-
Lomen-Hoerth, C.1
Anderson, T.2
Miller, B.3
-
204
-
-
42249102078
-
Transgenics, toxicity and therapeutics in rodent models of mutant SOD1-mediated familial ALS
-
Turner, B. J. & Talbot, K. Transgenics, toxicity and therapeutics in rodent models of mutant SOD1-mediated familial ALS. Prog. Neurobiol. 85, 94-134 (2008).
-
(2008)
Prog. Neurobiol.
, vol.85
, pp. 94-134
-
-
Turner, B.J.1
Talbot, K.2
-
205
-
-
67349271683
-
Depletion of TDP-43 affects Drosophila motoneurons terminal synapsis and locomotive behavior
-
Feiguin, F. et al. Depletion of TDP-43 affects Drosophila motoneurons terminal synapsis and locomotive behavior. FEBS Lett. 583, 1586-1592 (2009).
-
(2009)
FEBS Lett
, vol.583
, pp. 1586-1592
-
-
Feiguin, F.1
-
206
-
-
78149429744
-
Progranulin is neurotrophic in vivo and protects against a mutant TDP-43 induced axonopathy
-
Laird, A. S. et al. Progranulin is neurotrophic in vivo and protects against a mutant TDP-43 induced axonopathy. PLoS ONE 5, e13368 (2010).
-
(2010)
PLoS ONE
, vol.5
-
-
Laird, A.S.1
-
207
-
-
77953026500
-
Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis
-
Kraemer, B. C. et al. Loss of murine TDP-43 disrupts motor function and plays an essential role in embryogenesis. Acta Neuropathol. 119, 409-419 (2010).
-
(2010)
Acta Neuropathol
, vol.119
, pp. 409-419
-
-
Kraemer, B.C.1
-
208
-
-
84865028374
-
Targeted depletion of TDP-43 expression in the spinal cord motor neurons leads to the development of amyotrophic lateral sclerosis-like phenotypes in mice
-
Wu, L. S., Cheng, W. C. & Shen, C. K. Targeted depletion of TDP-43 expression in the spinal cord motor neurons leads to the development of amyotrophic lateral sclerosis-like phenotypes in mice. J. Biol. Chem. 287, 27335-27344 (2012).
-
(2012)
J. Biol. Chem.
, vol.287
, pp. 27335-27344
-
-
Wu, L.S.1
Cheng, W.C.2
Shen, C.K.3
-
209
-
-
78649750391
-
Phosphorylation promotes neurotoxicity in a Caenorhabditis elegans model of TDP-43 proteinopathy
-
Liachko, N. F., Guthrie, C. R. & Kraemer, B. C. Phosphorylation promotes neurotoxicity in a Caenorhabditis elegans model of TDP-43 proteinopathy. J. Neurosci. 30, 16208-16219 (2010).
-
(2010)
J. Neurosci.
, vol.30
, pp. 16208-16219
-
-
Liachko, N.F.1
Guthrie, C.R.2
Kraemer, B.C.3
-
210
-
-
84155171976
-
Understanding the role of TDP-43 and FUS/TLS in ALS and beyond
-
Da Cruz, S. & Cleveland, D. W. Understanding the role of TDP-43 and FUS/TLS in ALS and beyond. Curr. Opin. Neurobiol. 21, 904-919 (2011).
-
(2011)
Curr. Opin. Neurobiol.
, vol.21
, pp. 904-919
-
-
Da Cruz, S.1
Cleveland, D.W.2
-
211
-
-
79251518539
-
Progressive motor weakness in transgenic mice expressing human TDP-43
-
Stallings, N. R. et al. Progressive motor weakness in transgenic mice expressing human TDP-43. Neurobiol. Dis. 40, 404-414 (2010).
-
(2010)
Neurobiol. Dis.
, vol.40
, pp. 404-414
-
-
Stallings, N.R.1
-
212
-
-
73249152831
-
TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration
-
Wegorzewska, I. et al. TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration. Proc. Natl Acad. Sci. USA 106, 18809-18814 (2009).
-
(2009)
Proc. Natl Acad. Sci. USA
, vol.106
, pp. 18809-18814
-
-
Wegorzewska, I.1
-
213
-
-
77649269011
-
TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration
-
Wils, H. et al. TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration. Proc. Natl Acad. Sci. USA 107, 3858-3863 (2010).
-
(2010)
Proc. Natl Acad. Sci. USA
, vol.107
, pp. 3858-3863
-
-
Wils, H.1
-
214
-
-
77950421249
-
Transgenic rat model of neurodegeneration caused by mutation in the TDP gene
-
Zhou, H. et al. Transgenic rat model of neurodegeneration caused by mutation in the TDP gene. PLoS Genet. 6, e1000887 (2010).
-
(2010)
PLoS Genet
, vol.6
-
-
Zhou, H.1
-
215
-
-
84857532951
-
Non-human primate model of amyotrophic lateral sclerosis with cytoplasmic mislocalization of TDP-43
-
Uchida, A. et al. Non-human primate model of amyotrophic lateral sclerosis with cytoplasmic mislocalization of TDP-43. Brain 135, 833-846 (2012).
-
(2012)
Brain
, vol.135
, pp. 833-846
-
-
Uchida, A.1
-
216
-
-
84855472423
-
Mutant TDP-43 in motor neurons promotes the onset and progression of ALS in rats
-
Huang, C. et al. Mutant TDP-43 in motor neurons promotes the onset and progression of ALS in rats. J. Clin. Invest. 122, 107-118 (2012).
-
(2012)
J. Clin. Invest.
, vol.122
, pp. 107-118
-
-
Huang, C.1
-
217
-
-
0033968408
-
Fus deficiency in mice results in defective B-lymphocyte development and activation, high levels of chromosomal instability and perinatal death
-
Hicks, G. G. et al. Fus deficiency in mice results in defective B-lymphocyte development and activation, high levels of chromosomal instability and perinatal death. Nature Genet. 24, 175-179 (2000).
-
(2000)
Nature Genet
, vol.24
, pp. 175-179
-
-
Hicks, G.G.1
-
218
-
-
0034142209
-
Male sterility and enhanced radiation sensitivity in TLS-/- mice
-
Kuroda, M. et al. Male sterility and enhanced radiation sensitivity in TLS-/- mice. EMBO J. 19, 453-462 (2000).
-
(2000)
EMBO J.
, vol.19
, pp. 453-462
-
-
Kuroda, M.1
-
219
-
-
15744378126
-
The RNA binding protein TLS is translocated to dendritic spines by mGluR5 activation and regulates spine morphology
-
Fujii, R. et al. The RNA binding protein TLS is translocated to dendritic spines by mGluR5 activation and regulates spine morphology. Curr. Biol. 15, 587-593 (2005).
-
(2005)
Curr. Biol.
, vol.15
, pp. 587-593
-
-
Fujii, R.1
-
220
-
-
79953743204
-
FUS transgenic rats develop the phenotypes of amyotrophic lateral sclerosis and frontotemporal lobar degeneration
-
Huang, C. et al. FUS transgenic rats develop the phenotypes of amyotrophic lateral sclerosis and frontotemporal lobar degeneration. PLoS Genet. 7, e1002011 (2011).
-
(2011)
PLoS Genet
, vol.7
-
-
Huang, C.1
-
221
-
-
84875427900
-
Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age-and dose-dependent fashion
-
Mitchell, J. C. et al. Overexpression of human wild-type FUS causes progressive motor neuron degeneration in an age-and dose-dependent fashion. Acta Neuropathol. 125, 273-288 (2013).
-
(2013)
Acta Neuropathol
, vol.125
, pp. 273-288
-
-
Mitchell, J.C.1
-
222
-
-
33746667851
-
Antisense oligonucleotide therapy for neurodegenerative disease
-
Smith, R. A. et al. Antisense oligonucleotide therapy for neurodegenerative disease. J. Clin. Invest. 116, 2290-2296 (2006).
-
(2006)
J. Clin. Invest.
, vol.116
, pp. 2290-2296
-
-
Smith, R.A.1
-
223
-
-
77951924183
-
Intracerebroventricular infusion of monoclonal antibody or its derived Fab fragment against misfolded forms of SOD1 mutant delays mortality in a mouse model of ALS
-
Gros-Louis, F. et al. Intracerebroventricular infusion of monoclonal antibody or its derived Fab fragment against misfolded forms of SOD1 mutant delays mortality in a mouse model of ALS. J. Neurochem. 113, 1188-1199 (2010).
-
(2010)
J. Neurochem.
, vol.113
, pp. 1188-1199
-
-
Gros-Louis, F.1
-
224
-
-
84864439453
-
Targeting nuclear RNA for in vivo correction of myotonic dystrophy
-
Wheeler, T. M. et al. Targeting nuclear RNA for in vivo correction of myotonic dystrophy. Nature 488, 111-115 (2012).
-
(2012)
Nature
, vol.488
, pp. 111-115
-
-
Wheeler, T.M.1
-
225
-
-
77951256302
-
Fragment C of tetanus toxin, more than a carrier. Novel perspectives in non-viral ALS gene therapy
-
Moreno-Igoa, M. et al. Fragment C of tetanus toxin, more than a carrier. Novel perspectives in non-viral ALS gene therapy. J. Mol. Med. 88, 297-308 (2010).
-
(2010)
J. Mol. Med.
, vol.88
, pp. 297-308
-
-
Moreno-Igoa, M.1
-
226
-
-
60149106907
-
Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes
-
Foust, K. D. et al. Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes. Nature Biotech. 27, 59-65 (2009).
-
(2009)
Nature Biotech
, vol.27
, pp. 59-65
-
-
Foust, K.D.1
-
227
-
-
80955157880
-
Stem cell transplantation for motor neuron disease: Current approaches and future perspectives
-
Gowing, G. & Svendsen, C. N. Stem cell transplantation for motor neuron disease: current approaches and future perspectives. Neurotherapeutics 8, 591-606 (2011).
-
(2011)
Neurotherapeutics
, vol.8
, pp. 591-606
-
-
Gowing, G.1
Svendsen, C.N.2
-
228
-
-
50149098605
-
Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons
-
Dimos, J. T. et al. Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons. Science 321, 1218-1221 (2008).
-
(2008)
Science
, vol.321
, pp. 1218-1221
-
-
Dimos, J.T.1
-
229
-
-
84861919329
-
Lumbar intraspinal injection of neural stem cells in patients with amyotrophic lateral sclerosis: Results of a phase i trial in 12 patients
-
Glass, J. D. et al. Lumbar intraspinal injection of neural stem cells in patients with amyotrophic lateral sclerosis: results of a phase I trial in 12 patients. Stem Cells 30, 1144-1151 (2012).
-
(2012)
Stem Cells
, vol.30
, pp. 1144-1151
-
-
Glass, J.D.1
-
230
-
-
54949126674
-
Focal transplantation-based astrocyte replacement is neuroprotective in a model of motor neuron disease
-
Lepore, A. C. et al. Focal transplantation-based astrocyte replacement is neuroprotective in a model of motor neuron disease. Nature Neurosci. 11, 1294-1301 (2008).
-
(2008)
Nature Neurosci
, vol.11
, pp. 1294-1301
-
-
Lepore, A.C.1
-
231
-
-
0027401203
-
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
-
Rosen, D. R. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature 364, 59-62 (1993).
-
(1993)
Nature
, vol.364
, pp. 59-62
-
-
Rosen, D.R.1
-
232
-
-
33645422711
-
ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis
-
Greenway, M. J. et al. ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis. Nature Genet. 38, 411-413 (2006).
-
(2006)
Nature Genet
, vol.38
, pp. 411-413
-
-
Greenway, M.J.1
-
233
-
-
2442658908
-
DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)
-
Chen, Y. Z. et al. DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). Am. J. Hum. Genet. 74, 1128-1135 (2004).
-
(2004)
Am. J. Hum. Genet.
, vol.74
, pp. 1128-1135
-
-
Chen, Y.Z.1
-
234
-
-
77249126425
-
SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis
-
Orlacchio, A. et al. SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis. Brain 133, 591-598 (2010).
-
(2010)
Brain
, vol.133
, pp. 591-598
-
-
Orlacchio, A.1
-
235
-
-
0034785483
-
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2
-
Hadano, S. et al. A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2. Nature Genet. 29, 166-173 (2001).
-
(2001)
Nature Genet.
, vol.29
, pp. 166-173
-
-
Hadano, S.1
-
236
-
-
18244393223
-
A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q
-
Hand, C. K. et al. A novel locus for familial amyotrophic lateral sclerosis, on chromosome 18q. Am. J. Hum. Genet. 70, 251-256 (2002).
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 251-256
-
-
Hand, C.K.1
-
237
-
-
0041664059
-
Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis
-
Sapp, P. C. et al. Identification of two novel loci for dominantly inherited familial amyotrophic lateral sclerosis. Am. J. Hum. Genet. 73, 397-403 (2003).
-
(2003)
Am. J. Hum. Genet.
, vol.73
, pp. 397-403
-
-
Sapp, P.C.1
-
238
-
-
0032414948
-
Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers
-
Hentati, A. et al. Linkage of a commoner form of recessive amyotrophic lateral sclerosis to chromosome 15q15-q22 markers. Neurogenetics 2, 55-60 (1998).
-
(1998)
Neurogenetics
, vol.2
, pp. 55-60
-
-
Hentati, A.1
|