-
1
-
-
0030130574
-
The neurobiology of childhood spinal muscular atrophy
-
Crawford T.O., and Pardo C.A. The neurobiology of childhood spinal muscular atrophy. Neurobiol. Dis. 3 (1996) 97-110
-
(1996)
Neurobiol. Dis.
, vol.3
, pp. 97-110
-
-
Crawford, T.O.1
Pardo, C.A.2
-
2
-
-
0033033434
-
A single nucleotide in the SMN gene regulates splicing an is responsible for spinal muscular atrophy
-
Lorson C.L., Hahnen E., Androphy E.J., et al. A single nucleotide in the SMN gene regulates splicing an is responsible for spinal muscular atrophy. Proc. Natl. Acad. Sci. USA 96 (1999) 6307-6311
-
(1999)
Proc. Natl. Acad. Sci. USA
, vol.96
, pp. 6307-6311
-
-
Lorson, C.L.1
Hahnen, E.2
Androphy, E.J.3
-
3
-
-
0032799998
-
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
-
Monani U.R., Lorson C.L., Parsons D.W., et al. A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2. Hum. Mol. Genet. 8 (1999) 1177-1183
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 1177-1183
-
-
Monani, U.R.1
Lorson, C.L.2
Parsons, D.W.3
-
4
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
Lefebvre S., Bürglen L., Reboullet S., et al. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 80 (1995) 155-165
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Bürglen, L.2
Reboullet, S.3
-
5
-
-
8544283791
-
The survival motor neuron protein in spinal muscular atrophy
-
Coovert D.D., Le T.T., McAndrew P.E., et al. The survival motor neuron protein in spinal muscular atrophy. Hum. Mol. Genet. 6 (1997) 1205-1214
-
(1997)
Hum. Mol. Genet.
, vol.6
, pp. 1205-1214
-
-
Coovert, D.D.1
Le, T.T.2
McAndrew, P.E.3
-
6
-
-
0030981541
-
Correlation between severity and SMN protein level in spinal muscular atrophy
-
Lefebvre S., Burlet P., Liu Q., et al. Correlation between severity and SMN protein level in spinal muscular atrophy. Nat. Genet. 16 (1997) 265-269
-
(1997)
Nat. Genet.
, vol.16
, pp. 265-269
-
-
Lefebvre, S.1
Burlet, P.2
Liu, Q.3
-
8
-
-
15544385728
-
Perspectives on models of spinal muscular atrophy for drug discovery
-
Butchbach M.E.R., and Burghes A.H.M. Perspectives on models of spinal muscular atrophy for drug discovery. Drug Disc. Today Dis. Models 1 (2004) 151-156
-
(2004)
Drug Disc. Today Dis. Models
, vol.1
, pp. 151-156
-
-
Butchbach, M.E.R.1
Burghes, A.H.M.2
-
9
-
-
20144385587
-
SMND7, the major product of the centromeric survival motor neuron gene (SMN2), extends survival in mice with spinal muscular atrophy and associates with full-length SMN
-
Le T.T., Pham L.T., Butchbach M.E.R., et al. SMND7, the major product of the centromeric survival motor neuron gene (SMN2), extends survival in mice with spinal muscular atrophy and associates with full-length SMN. Hum. Mol. Genet. 14 (2005) 845-857
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 845-857
-
-
Le, T.T.1
Pham, L.T.2
Butchbach, M.E.R.3
-
10
-
-
34447642872
-
Abnormal motor phenotype in the SMND7 mouse model of spinal muscular atrophy
-
Butchbach M.E.R., Edwards J.D., and Burghes A.H.M. Abnormal motor phenotype in the SMND7 mouse model of spinal muscular atrophy. Neurobiol. Dis. 27 (2007) 207-219
-
(2007)
Neurobiol. Dis.
, vol.27
, pp. 207-219
-
-
Butchbach, M.E.R.1
Edwards, J.D.2
Burghes, A.H.M.3
-
11
-
-
67651083390
-
Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
-
Burghes A.H.M., and Beattie C.E. Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?. Nat. Rev. Neurosci. 10 (2009) 597-609
-
(2009)
Nat. Rev. Neurosci.
, vol.10
, pp. 597-609
-
-
Burghes, A.H.M.1
Beattie, C.E.2
-
12
-
-
61849182695
-
Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy
-
Rose Jr. F.F., Mattis V.B., Rindt H., et al. Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy. Hum. Mol. Genet. 18 (2009) 997-1005
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 997-1005
-
-
Rose Jr., F.F.1
Mattis, V.B.2
Rindt, H.3
-
13
-
-
70349575755
-
Delivery of a read-through inducing compound, TC007, lessens the severity of a SMA animal model
-
Mattis V.B., Ebert A.D., Fosso M.Y., et al. Delivery of a read-through inducing compound, TC007, lessens the severity of a SMA animal model. Hum. Mol. Genet. 18 (2009) 3906-3913
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 3906-3913
-
-
Mattis, V.B.1
Ebert, A.D.2
Fosso, M.Y.3
-
14
-
-
0037220267
-
Different data from different labs: lessons from studies of gene-environment interactions
-
Wahlsten D., Metten P., Phillips T.J., et al. Different data from different labs: lessons from studies of gene-environment interactions. J. Neurobiol. 54 (2003) 283-311
-
(2003)
J. Neurobiol.
, vol.54
, pp. 283-311
-
-
Wahlsten, D.1
Metten, P.2
Phillips, T.J.3
-
15
-
-
72949085844
-
-
M.E.R. Butchbach, J. Singh, M. {Thorn}orsteindóttir, et al., Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy, Hum. Mol. Genet. in press.
-
M.E.R. Butchbach, J. Singh, M. {Thorn}orsteindóttir, et al., Effects of 2,4-diaminoquinazoline derivatives on SMN expression and phenotype in a mouse model for spinal muscular atrophy, Hum. Mol. Genet. in press.
-
-
-
-
17
-
-
41849090089
-
Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle specific SMN expression has no phenotypic effect
-
Gavrilina T.O., McGovern V.L., Workman E., et al. Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle specific SMN expression has no phenotypic effect. Hum. Mol. Genet. 17 (2008) 1063-1075
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 1063-1075
-
-
Gavrilina, T.O.1
McGovern, V.L.2
Workman, E.3
-
18
-
-
42549088649
-
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy
-
Oprea G.E., Kröber S., McWhorter M.L., et al. Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Science 320 (2008) 524-527
-
(2008)
Science
, vol.320
, pp. 524-527
-
-
Oprea, G.E.1
Kröber, S.2
McWhorter, M.L.3
-
19
-
-
3343020674
-
Evidence for defective energy homeostasis in amyotrophic lateral sclerosis: benefit of a high-energy diet in a transgenic mouse model
-
Dupuis L., Oudart H., René F., et al. Evidence for defective energy homeostasis in amyotrophic lateral sclerosis: benefit of a high-energy diet in a transgenic mouse model. Proc. Natl. Acad. Sci. USA 101 (2004) 11159-11164
-
(2004)
Proc. Natl. Acad. Sci. USA
, vol.101
, pp. 11159-11164
-
-
Dupuis, L.1
Oudart, H.2
René, F.3
-
20
-
-
34547097247
-
Brain IRS2 signaling coordinates life span and nutrient homeostasis
-
Taguchi A., Wartschow L.M., and White M.F. Brain IRS2 signaling coordinates life span and nutrient homeostasis. Science 317 (2007) 369-372
-
(2007)
Science
, vol.317
, pp. 369-372
-
-
Taguchi, A.1
Wartschow, L.M.2
White, M.F.3
-
21
-
-
44449103308
-
Comment on "Brain IRS2 signaling coordinates life span and nutrient homeostasis"
-
Selman C., Lingard S., Gems D., et al. Comment on "Brain IRS2 signaling coordinates life span and nutrient homeostasis". Science 320 (2008) 1012b
-
(2008)
Science
, vol.320
-
-
Selman, C.1
Lingard, S.2
Gems, D.3
-
22
-
-
46449091994
-
Response to comment on "Brain IRS2 signaling coordinates life span and nutrient homeostasis"
-
Taguchi A., and White M.F. Response to comment on "Brain IRS2 signaling coordinates life span and nutrient homeostasis". Science 320 (2008) 1012c
-
(2008)
Science
, vol.320
-
-
Taguchi, A.1
White, M.F.2
-
23
-
-
0037199344
-
Rescue of the acetylcholinesterase knockout mouse by feeding a liquid diet; phenotype of the adult acetylcholinesterase deficient mouse
-
Duysen E.G., Stribley J.A., Fry D.L., et al. Rescue of the acetylcholinesterase knockout mouse by feeding a liquid diet; phenotype of the adult acetylcholinesterase deficient mouse. Dev. Brain Res. 137 (2002) 43-54
-
(2002)
Dev. Brain Res.
, vol.137
, pp. 43-54
-
-
Duysen, E.G.1
Stribley, J.A.2
Fry, D.L.3
-
24
-
-
55849106634
-
Sustained improvement of spinal muscular atrophy mice treated with trichostatin A plus nutrition
-
Narver H.L., Kong L., Burnett B.G., et al. Sustained improvement of spinal muscular atrophy mice treated with trichostatin A plus nutrition. Ann. Neurol. 64 (2008) 465-470
-
(2008)
Ann. Neurol.
, vol.64
, pp. 465-470
-
-
Narver, H.L.1
Kong, L.2
Burnett, B.G.3
-
25
-
-
33847358736
-
Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy
-
Avila A.M., Burnett B.G., and Taye A.A. Trichostatin A increases SMN expression and survival in a mouse model of spinal muscular atrophy. J. Clin. Invest. 117 (2007) 659-671
-
(2007)
J. Clin. Invest.
, vol.117
, pp. 659-671
-
-
Avila, A.M.1
Burnett, B.G.2
Taye, A.A.3
-
26
-
-
0017383466
-
Influence of food and diet on gastrointestinal drug absorption: a review
-
Welling P.G. Influence of food and diet on gastrointestinal drug absorption: a review. J. Pharmacokinet. Biopharm. 5 (1977) 291-334
-
(1977)
J. Pharmacokinet. Biopharm.
, vol.5
, pp. 291-334
-
-
Welling, P.G.1
-
27
-
-
0029112950
-
Hypoglycaemia in spinal muscular atrophy
-
Bruce A.K., Jacobsen E., Dossing H., et al. Hypoglycaemia in spinal muscular atrophy. Lancet 346 (1995) 609-610
-
(1995)
Lancet
, vol.346
, pp. 609-610
-
-
Bruce, A.K.1
Jacobsen, E.2
Dossing, H.3
-
28
-
-
0141959152
-
Patients with severe muscle wasting are prone to develop hypoglycemia during fasting
-
Ørngreen M.C., Zacho M., Hebert A., et al. Patients with severe muscle wasting are prone to develop hypoglycemia during fasting. Neurology 61 (2003) 997-1000
-
(2003)
Neurology
, vol.61
, pp. 997-1000
-
-
Ørngreen, M.C.1
Zacho, M.2
Hebert, A.3
|