| 1. |
Boucher BJ, Gibberd FB. Familial ataxia, hypogonadism and retinal degeneration[J]. Acta Neurol Scand, 1969, 45(4): 507-510.
|
| 2. |
Neuh?user G, Opitz JM. Autosomal recessive syndrome of cerebellar ataxia and hypogonadotropic hypogonadism[J]. Clin Genet, 1975, 7(5): 426-434. DOI: 10.1111/j.1399-0004.1975.tb00353.x.
|
| 3. |
Limber ER, Bresnick GH, Lebovitz RM, et al. Spinocerebellar ataxia, hypogonadotropic hypogonadism, and choroidal dystrophy (Boucher-Neuhauser syndrome)[J]. Am J Med Genet, 1989, 33(3): 409-414. DOI: 10.1002/ajmg.1320330325.
|
| 4. |
Deik A, Johannes B, Rucker JC, et al. Compound heterozygous PNPLA6 mutations cause Boucher-Neuhauser syndrome with late-onset ataxia[J]. J Neurol, 2014, 261(12): 2411-2423. DOI: 10.1007/s00415-014-7516-3.
|
| 5. |
Synofzik M, Gonzalez MA, Lourenco CM, et al. PNPLA6 mutations cause boucher-neuhauser and gordon holmes syndromes as part of a broad neurodegenerative spectrum[J]. Brain, 2014, 137(Pt 1): 69-77. DOI: 10.1093/brain/awt326.
|
| 6. |
Rainier S, Bui M, Mark E, et al. Neuropathy target esterase gene mutations cause motor neuron disease[J]. Am J Hum Genet, 2008, 82(3): 780-785. DOI: 10.1016/j.ajhg.2007.12.018.
|
| 7. |
Richardson RJ, Hein ND, Wijeyesakere SJ, et al. Neuropathy target esterase (NTE): overview and future[J]. Chem Biol Interact, 2013, 203(1): 238-244. DOI: 10.1016/j.cbi.2012.10.024.
|
| 8. |
Atkins J, Luthjens LH, Hom ML, et al. Monomers of the catalytic domain of human neuropathy target esterase are active in the presence of phospholipid[J]. Biochem J, 2002, 361(Pt 1): 119-123. DOI: 10.1042/0264-6021:3610119.
|
| 9. |
van Tienhoven M, Atkins J, Li Y, et al. Human neuropathy target esterase catalyzes hydrolysis of membrane lipids[J]. J Biol Chem, 2002, 277(23): 20942-20948. DOI: 10.1074/jbc.M200330200.
|
| 10. |
Zaccheo O, Dinsdale D, Meacock PA, et al. Neuropathy target esterase and its yeast homologue degrade phosphatidylcholine to glycerophosphocholine in living cells[J]. J Biol Chem, 2004, 279(23): 24024-24033. DOI: 10.1074/jbc.M400830200.
|
| 11. |
Tesson C, Nawara M, Salih MA, et al. Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia[J]. Am J Hum Genet, 2012, 91(6): 1051-1064. DOI: 10.1016/j.ajhg.2012.11.001.
|
| 12. |
Patsi O, De Beaufort C, Kerschen P, et al. A new PNPLA6 mutation presenting as Oliver McFarlane syndrome[J]. J Neurol Sci, 2018, 392: 1-2. DOI: 10.1016/j.jns.2018.06.016.
|
| 13. |
Salgado P, Carvalho R, Brand?o AF, et al. Gordon holmes syndrome due to compound heterozygosity of two new PNPLA6 variants-a diagnostic challenge[J]. eNeurologicalSci, 2019, 14: 9-12. DOI: 10.1016/j.ensci.2018.11.022.
|
| 14. |
O'Neil E, Serrano L, Scoles D, et al. Detailed retinal phenotype of boucher-neuhauser syndrome associated with mutations in PNPLA6 mimicking choroideremia[J]. Ophthalmic Genet, 2019, 40(3): 267-275. DOI: 10.1080/13816810.2019.1605392.
|
| 15. |
Rump P, Hamel BC, Pinckers AJ, et al. Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome[J]. J Med Genet, 1997, 34(9): 767-771. DOI: 10.1136/jmg.34.9.767.
|
| 16. |
Yu SI, Kim JL, Lee SG, et al. Ophthalmologic findings of Boucher-Neuhauser syndrome[J]. Korean J Ophthalmol, 2008, 22(4): 263-267. DOI: 10.3341/kjo.2008.22.4.263.
|
| 17. |
DeNaro BB, Dhrami-Gavazi E, Rubaltelli DM, et al. Chorioretinal changes in a genetically confirmed case of Boucher-Neuhauser syndrome[J]. Retin Cases Brief Rep, 2021, 15(2): 179-184. DOI: 10.1097/ICB.0000000000000769.
|
