|
1) Kawahara Y, Ito K, Sun H, et al. RNA editing and death of motor neurons. Nature. 2004; 427: 801
|
|
|
|
2) Hideyama T, Yamashita T, Suzuki T, et al. Induced loss of ADAR2 engenders slow death of motor neurons from Q/R site-unedited GluR2. J Neurosci. 2010; 30: 11917-25
|
|
|
|
|
3) Atsuta N, Watanabe H, Ito M, et al. Research Committee on the Neurodegenerative Diseases of Japan: Age at onset influences on wide-ranged clinical features of sporadic amyotrophic lateral sclerosis, J Neurol Sci. 2009; 276: 163-9
|
|
|
|
|
|
4) Iida A, Takahashi A, Kubo M, et al. A functional variant in ZNF512B is associated with susceptibil-ity to amyotrophic lateral sclerosis in Japanese. Hum Mol Genet. 2011; 20: 3684-92
|
|
|
|
|
|
5) Rosen DR, Siddique T, Patterson D, et al. Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis. Nature. 1993; 362: 59-62
|
|
|
|
|
|
6) Aoki M, Ogasawara M, Matsubara Y, et al. Mild ALS in Japan associated with novel SOD mutation [published erratum appears in Nat Genet. 1994; 6: 225]. Nat Genet. 1993; 5: 323-4
|
|
|
|
|
|
7) Kwiatkowski TJ Jr, Bosco DA, Leclerc AL, et al. Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis. Science. 2009; 323: 1205-8
|
|
|
|
|
|
8) Suzuki N, Aoki M, Warita H, et al. FALS with FUS mutation in Japan with early onset, rapid progress and basophilic inclusion. J Hum Genet. 2010; 55: 252-4
|
|
|
|
|
9) Maruyama H, Morino H, Ito H, et al. Mutations of optineurin in amyotrophic lateral sclerosis. Nature. 2010; 465: 223-6
|
|
|
|
|
|
10) Ito H, Fujita K, Nakamura M, et al. Optineurin is co-localized with FUS in basophilic inclusions of ALS with FUS mutation and in basophilic inclu-sion body disease. Acta Neuropathol. 2011; 121: 555-7
|
|
|
|
|
|
11) Urushitani M, Sik A, Sakurai T, et al. Chromo-granin-mediated secretion of mutant superoxide dismutase proteins linked to amyotrophic lateral sclerosis. Nature Neurosci. 2005; 9: 108-18
|
|
|
|
|
|
12) Boillee S, Yamanaka K, Lobsiger CS, et al. Onset and progression in inherited ALS determined by motor neurons and microglia. Science. 2006; 312: 1389-92
|
|
|
|
|
|
13) Yamanaka K, Chun SJ, Boillee S, et al. Astrocytes as determinants of disease progression in inherited amyotrophic lateral sclerosis. Nature Neurosci. 2008; 11: 251-3
|
|
|
|
|
|
14) Nagai M, Aoki M, Miyoshi I, et al. Rats ex-pressing human cytosolic copper-zinc superoxide dismutase transgenes with amyotrophic lateral sclerosis: associated mutations develop motor neuron disease. J Neurosci. 2001; 21: 9246-54
|
|
|
|
|
|
15) Sun W, Funakoshi H, Nakamura T. Over-expression of HGF retards disease progression and prolongs life span in a transgenic mouse model of ALS. J Neurosci. 2002; 22: 6537-48
|
|
|
|
|
|
16) Ishigaki A, Aoki M, Nagai M, et al. Intrathecal delivery of HGF from the ALS onset suppresses disease progression in a rat ALS model. J Neuropathol Exp Neurol. 2007; 66: 1037-44
|
|
|
|
|
|
17) Katsuno M, Banno H, Suzuki K, et al. Japan SBMA Interventional Trial for TAP-144-SR (JASMITT) study group. Efficacy and safety of leuprorelin in patients with spinal and bulbar muscular atrophy (JASMITT study): a multi-centre, randomised, double-blind, placebo-con-trolled trial. Lancet Neurol. 2010; 9: 875-84
|
|
|
|
|
|
18) Yokota T, Lu QL, Partridge T, et al. Efficacy of systemic morpholino exon-skipping in Duchenne dystrophy dogs. Ann Neurol. 2009; 65: 667-76
|
|
|
|
|
|
19) Malicdan MC, Noguchi S, Hayashi YK, et al. Prophylactic treatment with sialic acid meta-bolites precludes the development of the myo-pathic phenotype in the DMRV-hIBM mouse model. Nature Med. 2009; 15: 690-5
|
|
|
|
|