|
1）Tsuji S. Genetics of neurodegenerative diseases: insights from high-throughput resequencing. Hum Mol Genet. 2010; 19: R65-70
|
|
|
|
2）Ichikawa Y. Japan Multiple System Atrophy Research Consortium (JAMSAC). Rinsho Shinkeigaku. 2010; 50: 927
|
|
|
|
|
3）Geser F, Seppi K, Stampfer-Kountchev M, et al. The European Multiple System Atrophy-Study Group (EMSA-SG). J Neural Transm. 2005; 112: 1677-86
|
|
|
|
|
|
4）Gilman S, May SJ, Shults CW, et al. The North American Multiple System Atrophy Study Group. J Neural Transm. 2005; 112: 1687-94
|
|
|
|
|
|
5）Krismer F, Seppi K, Tison F, et al. The Unified Multiple System Atrophy Rating Scale: intrarater reliability. Mov Disord. 2012; 27: 1683-5
|
|
|
|
|
|
6）Wenning GK, Geser F, Krismer F, et al. The natural history of multiple system atrophy: a prospective European cohort study. Lancet Neurol. 2013; 12: 264-74
|
|
|
|
|
|
7）Geser F, Wenning GK, Seppi K, et al. Progression of multiple system atrophy (MSA): a prospective natural history study by the European MSA Study Group (EMSA SG). Mov Disord. 2006; 21: 179-86
|
|
|
|
|
|
8）May S, Gilman S, Sowell BB, et al. Potential outcome measures and trial design issues for multiple system atrophy. Mov Disord. 2007; 22: 2371-7
|
|
|
|
|
|
9）Saccá F, Marsili A, Quarantelli M, et al. A randomized clinical trial of lithium in multiple system atrophy. J Neurol. 2013; 260: 458-61
|
|
|
|
|
|
10）Dodel R, Spottke A, Gerhard A, et al. Minocycline 1-year therapy in multiple-system-atrophy: effect on clinical symptoms and [(11)C](R)-PK11195 PET (MEMSA-trial). Mov Disord. 2010; 25: 97-107
|
|
|
|
|
|
11）Low PA, Robertson D, Gilman S, et al. Efficacy and safety of rifampicin for multiple system atrophy: a randomised, double-blind, placebo-controlled trial. Lancet Neurol. 2014; 13: 268-75
|
|
|
|
|
|
12）Lee PH, Lee JE, Kim HS, et al. A randomized trial of mesenchymal stem cells in multiple system atrophy. Ann Neurol. 2012; 72: 32-40
|
|
|
|
|
|
13）Ozawa T, Takano H, Onodera O, et al. No mutation in the entire coding region of the alpha-synuclein gene in pathologically confirmed cases of multiple system atrophy. Neurosci Lett. 1999; 270: 110-2
|
|
|
|
|
|
14）Lincoln SJ, Ross OA, Milkovic NM, et al. Quantitative PCR-based screening of alpha-synuclein multiplication in multiple system atrophy. Parkinsonism Relat Disord. 2007; 13: 340-2
|
|
|
|
|
|
15）Ozawa T, Okuizumi K, Ikeuchi T, et al. Analysis of the expression level of alpha-synuclein mRNA using postmortem brain samples from pathologically confirmed cases of multiple system atrophy. Acta Neuropathol. 2001; 102: 188-90
|
|
|
|
|
|
16）Scholz SW, Houlden H, Schulte C, et al. SNCA variants are associated with increased risk for multiple system atrophy. Ann Neurol. 2009; 65: 610-4
|
|
|
|
|
|
17）Al-Chalabi A, Durr A, Wood NW, et al. Genetic variants of the alpha-synuclein gene SNCA are associated with multiple system atrophy. PLoS One. 2009; 4: e7114
|
|
|
|
|
|
18）Yun JY, Lee WW, Lee JY, et al. SNCA variants and multiple system atrophy. Ann Neurol. 2010; 67: 554-5
|
|
|
|
|
|
19）Mitsui J, Mizuta I, Toyoda A, et al. Mutations for Gaucher disease confer high susceptibility to Parkinson disease. Arch Neurol. 2009; 66: 571-6
|
|
|
|
|
|
20）Sidransky E, Nalls MA, Aasly JO, et al. Multicenter analysis of glucocerebrosidase mutations in Parkinsonʼs disease. N Engl J Med. 2009; 361: 1651-61
|
|
|
|
|
|
21）Srulijes K, Hauser AK, Guella I, et al. No association of GBA mutations and multiple system atrophy. Eur J Neurol. 2013; 20: e61-2
|
|
|
|
|
|
22）Sun QY, Guo JF, Han WW, et al. Genetic association study of glucocerebrosidase gene L444P mutation in essential tremor and multiple system atrophy in mainland China. J Clin Neurosci. 2013; 20: 217-9
|
|
|
|
|
|
23）Ozelius LJ, Foroud T, May S, et al. G2019S mutation in the leucine-rich repeat kinase 2 gene is not associated with multiple system atrophy. Mov Disord. 2007; 22: 546-9
|
|
|
|
|
|
24）Sasaki H, Emi M, Iijima H, et al. Copy number loss of (Src homology 2 domain containing) -transforming protein 2 (SHC2) gene: Discordant loss in monozygotic twins and frequent loss in patients with multiple system atrophy. Mol Brain. 2011; 4: 24
|
|
|
|
|
|
25）Ferguson MC, Garland EM, Hedges L, et al. SHC2 gene copy number in multiple system atrophy (MSA). Clin Auton Res. 2014; 24: 25-30
|
|
|
|
|
|
26）Wenning GK, Wagner S, Daniel S, et al. Multiple system atrophy: sporadic or familial? Lancet. 1993; 342: 681
|
|
|
|
|
|
27）Soma H, Yabe I, Takei A, et al. Heredity in multiple system atrophy. J Neurol Sci. 2006; 240: 107-10
|
|
|
|
|
|
28）Hara K, Momose Y, Tokiguchi S, et al. Multiplex families with multiple system atrophy. Arch Neurol. 2007; 64: 545-51
|
|
|
|
|
|
29）Wüllner U, Schmitt I, Kammal M, et al. Definite multiple system atrophy in a German family. J Neurol Neurosurg Psychiatry. 2009; 80: 449-50
|
|
|
|
|
|
30）Hohler AD, Singh VJ. Probable hereditary multiple system atrophy-autonomic (MSA-A) in a family in the United States. J Clin Neurosci. 2012; 19: 479-80
|
|
|
|
|
|
31）Itoh K, Kasai T, Tsuji Y, et al. Definite familial multiple system atrophy with unknown genetics. Neuropathology. 2014; 34: 309-13
|
|
|
|
|
|
32）The Multiple-System Atrophy Research Collaboration. Mutations in COQ2 in familial and sporadic multiple-system atrophy. N Engl J Med. 2013; 369: 233-44
|
|
|
|
|
|
33）Ashby MN, Kutsunai SY, Ackerman S, et al. COQ2 is a candidate for the structural gene encoding para-hydroxybenzoate: polyprenyltransferase. J Biol Chem. 1992; 267: 4128-36
|
|
|
|
|
|
34）Quinzii C, Naini A, Salviati L, et al. A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency. Am J Hum Genet. 2006; 78: 345-9
|
|
|
|
|
|
35）López-Martín JM, Salviati L, Trevisson E, et al. Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis. Hum Mol Genet. 2007; 16: 1091-7
|
|
|
|
|