-
1
-
-
0028797783
-
Identification and characterization of a spinal muscular atrophy-determining gene
-
S.Lefebvre, L.Bürglen, S.Reboullet,. Identification and characterization of a spinal muscular atrophy-determining gene. Cell 1995;80:155-65
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Bürglen, L.2
Reboullet, S.3
-
2
-
-
67651083390
-
Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?
-
A.H.Burghes, C.E.Beattie Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? Nat Rev Neurosci 2009;10:597-609
-
(2009)
Nat Rev Neurosci
, vol.10
, pp. 597-609
-
-
Burghes, A.H.1
Beattie, C.E.2
-
3
-
-
84871718500
-
Spinal muscular atrophy: going beyond the motor neuron
-
G.Hamilton, T.H.Gillingwater Spinal muscular atrophy: going beyond the motor neuron. Trends Mol Med 2013;19:40-50
-
(2013)
Trends Mol Med
, vol.19
, pp. 40-50
-
-
Hamilton, G.1
Gillingwater, T.H.2
-
4
-
-
84859816485
-
Childhood spinal muscular atrophy: controversies and challenges
-
E.Mercuri, E.Bertini, S.T.Iannaccone Childhood spinal muscular atrophy: controversies and challenges. Lancet Neurol 2012;11:443-52
-
(2012)
Lancet Neurol
, vol.11
, pp. 443-452
-
-
Mercuri, E.1
Bertini, E.2
Iannaccone, S.T.3
-
5
-
-
84930573237
-
Spinal muscular atrophy–recent therapeutic advances for an old challenge
-
I.Faravelli, M.Nizzardo, G.P.Comi,. Spinal muscular atrophy–recent therapeutic advances for an old challenge. Nat Rev Neurol 2015;11:351-9
-
(2015)
Nat Rev Neurol
, vol.11
, pp. 351-359
-
-
Faravelli, I.1
Nizzardo, M.2
Comi, G.P.3
-
6
-
-
84930902559
-
Disease mechanisms and therapeutic approaches in spinal muscular atrophy
-
S.Tisdale, L.Pellizzoni Disease mechanisms and therapeutic approaches in spinal muscular atrophy. J Neurosci 2015;35:8691-700
-
(2015)
J Neurosci
, vol.35
, pp. 8691-8700
-
-
Tisdale, S.1
Pellizzoni, L.2
-
7
-
-
84890131445
-
Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?
-
M.Shababi, C.L.Lorson, S.S.Rudnik-Schöneborn Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease? J Anat 2014;224:15-28
-
(2014)
J Anat
, vol.224
, pp. 15-28
-
-
Shababi, M.1
Lorson, C.L.2
Rudnik-Schöneborn, S.S.3
-
8
-
-
84940388753
-
Moving towards treatments for spinal muscular atrophy: hopes and limits
-
B.Wirth, M.Barkats, C.Martinat,. Moving towards treatments for spinal muscular atrophy: hopes and limits. Expert Opin Emerg Drugs 2015;20:353-6
-
(2015)
Expert Opin Emerg Drugs
, vol.20
, pp. 353-356
-
-
Wirth, B.1
Barkats, M.2
Martinat, C.3
-
9
-
-
84978362015
-
Gene-targeting pharmaceuticals for single-gene disorders
-
A.L.Beaudet, L.Meng Gene-targeting pharmaceuticals for single-gene disorders. Hum Mol Genet 2016;25:R18-26
-
(2016)
Hum Mol Genet
, vol.25
, pp. R18-R26
-
-
Beaudet, A.L.1
Meng, L.2
-
10
-
-
84931026162
-
Impaired muscle mitochondrial biogenesis and myogenesis in spinal muscular atrophy
-
M.Ripolone, D.Ronchi, R.Violano,. Impaired muscle mitochondrial biogenesis and myogenesis in spinal muscular atrophy. JAMA Neurol 2015;72:666-75
-
(2015)
JAMA Neurol
, vol.72
, pp. 666-675
-
-
Ripolone, M.1
Ronchi, D.2
Violano, R.3
-
11
-
-
77952318830
-
Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model
-
M.Bowerman, A.Beauvais, C.L.Anderson,. Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model. Hum Mol Genet 2010;19:1468-78
-
(2010)
Hum Mol Genet
, vol.19
, pp. 1468-1478
-
-
Bowerman, M.1
Beauvais, A.2
Anderson, C.L.3
-
12
-
-
84897548490
-
Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy
-
T.M.Wishart, C.A.Mutsaers, M.Riessland,. Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy. J Clin Invest 2014;124:1821-34
-
(2014)
J Clin Invest
, vol.124
, pp. 1821-1834
-
-
Wishart, T.M.1
Mutsaers, C.A.2
Riessland, M.3
-
13
-
-
84942511422
-
UBA1: at the crossroads of ubiquitin homeostasis and neurodegeneration
-
E.J.Groen, T.H.Gillingwater UBA1: at the crossroads of ubiquitin homeostasis and neurodegeneration. Trends Mol Med 2015;21:622-32
-
(2015)
Trends Mol Med
, vol.21
, pp. 622-632
-
-
Groen, E.J.1
Gillingwater, T.H.2
-
14
-
-
84960517144
-
Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy
-
C.A.Chiriboga, K.J.Swoboda, B.T.Darras,. Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy. Neurology 2016;86:890-7
-
(2016)
Neurology
, vol.86
, pp. 890-897
-
-
Chiriboga, C.A.1
Swoboda, K.J.2
Darras, B.T.3
-
15
-
-
84945135858
-
Understanding the experiences and needs of individuals with Spinal Muscular Atrophy and their parents: a qualitative study
-
Y.Qian, S.McGraw, J.Henne,. Understanding the experiences and needs of individuals with Spinal Muscular Atrophy and their parents: a qualitative study. BMC Neurol 2015;15:217
-
(2015)
BMC Neurol
, vol.15
, pp. 217
-
-
Qian, Y.1
McGraw, S.2
Henne, J.3
-
16
-
-
77649134088
-
The cost-effectiveness of prenatal screening for spinal muscular atrophy
-
S.E.Little, V.Janakiraman, A.Kaimal,. The cost-effectiveness of prenatal screening for spinal muscular atrophy. Am J Obstet Gynecol 2010;202:253 e1-7
-
(2010)
Am J Obstet Gynecol
, vol.202
, pp. 253 e1-7
-
-
Little, S.E.1
Janakiraman, V.2
Kaimal, A.3
-
17
-
-
84974718000
-
The Economic Burden of Spinal Muscular Atrophy
-
E.P.Armstrong, D.C.Malone, W.S.Yeh,. The Economic Burden of Spinal Muscular Atrophy. J Med Econ 2016; doi: 10.1080/13696998.2016.1198355 [Epub ahead of print]
-
(2016)
J Med Econ
-
-
Armstrong, E.P.1
Malone, D.C.2
Yeh, W.S.3
|