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Volumn 5, Issue 3, 2014, Pages 586-603

Genes and genetic testing in hereditary ataxias

Author keywords

Ataxia; Genetics; Pathways; Testing

Indexed keywords


EID: 84905571259     PISSN: None     EISSN: 20734425     Source Type: Journal    
DOI: 10.3390/genes5030586     Document Type: Review
Times cited : (28)

References (100)
  • 1
    • 77955636420 scopus 로고    scopus 로고
    • Autosomal dominant cerebellar ataxias: Polyglutamine expansions and beyond
    • Durr, A. Autosomal dominant cerebellar ataxias: Polyglutamine expansions and beyond. Lancet Neurol. 2010, 9, 885-894.
    • (2010) Lancet Neurol , vol.9 , pp. 885-894
    • Durr, A.1
  • 2
    • 84864681300 scopus 로고    scopus 로고
    • Prevalence rate and functional status of cerebellar ataxia in Korea
    • Joo, B.-E.; Lee, C.-N.; Park, K.-W. Prevalence rate and functional status of cerebellar ataxia in Korea. Cerebellum Lond. Engl. 2012, 11, 733-738.
    • (2012) Cerebellum Lond. Engl , vol.11 , pp. 733-738
    • Joo, B.-E.1    Lee, C.-N.2    Park, K.-W.3
  • 4
    • 34047217641 scopus 로고    scopus 로고
    • Cerebellar ataxia in the eastern and southern parts of Norway
    • Koht, J.; Tallaksen, C.M.E. Cerebellar ataxia in the eastern and southern parts of Norway. Acta Neurol. Scand. Suppl. 2007, 187, 76-79.
    • (2007) Acta Neurol. Scand. Suppl , vol.187 , pp. 76-79
    • Koht, J.1    Tallaksen, C.M.E.2
  • 6
    • 0030292368 scopus 로고    scopus 로고
    • Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT
    • Sanpei, K.; Takano, H.; Igarashi, S.; Sato, T.; Oyake, M.; Sasaki, H.; Wakisaka, A.; Tashiro, K.; Ishida, Y.; Ikeuchi, T. et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat. Genet. 1996, 14, 277-284.
    • (1996) Nat. Genet , vol.14 , pp. 277-284
    • Sanpei, K.1    Takano, H.2    Igarashi, S.3    Sato, T.4    Oyake, M.5    Sasaki, H.6    Wakisaka, A.7    Tashiro, K.8    Ishida, Y.9    Ikeuchi, T.10
  • 9
    • 0029022025 scopus 로고
    • Spinocerebellar ataxia, type 3 (SCA3) is genetically identical to Machado-Joseph disease (MJD)
    • Haberhausen, G.; Damian, M.S.; Leweke, F.; Müller, U. Spinocerebellar ataxia, type 3 (SCA3) is genetically identical to Machado-Joseph disease (MJD). J. Neurol. Sci. 1995, 132, 71-75.
    • (1995) J. Neurol. Sci , vol.132 , pp. 71-75
    • Haberhausen, G.1    Damian, M.S.2    Leweke, F.3    Müller, U.4
  • 17
    • 84876317516 scopus 로고    scopus 로고
    • Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease)
    • Sun, Y.; Almomani, R.; Breedveld, G.J.; Santen, G.W.E.; Aten, E.; Lefeber, D.J.; Hoff, J.I.; Brusse, E.; Verheijen, F.W.; Verdijk, R.M. et al. Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease). Hum. Mutat. 2013, 34, 706-713.
    • (2013) Hum. Mutat , vol.34 , pp. 706-713
    • Sun, Y.1    Almomani, R.2    Breedveld, G.J.3    Santen, G.W.E.4    Aten, E.5    Lefeber, D.J.6    Hoff, J.I.7    Brusse, E.8    Verheijen, F.W.9    Verdijk, R.M.10
  • 18
    • 84861235522 scopus 로고    scopus 로고
    • Recent advances in the genetics of cerebellar ataxias
    • Sailer, A.; Houlden, H. Recent advances in the genetics of cerebellar ataxias. Curr. Neurol. Neurosci. Rep. 2012, 12, 227-236.
    • (2012) Curr. Neurol. Neurosci. Rep , vol.12 , pp. 227-236
    • Sailer, A.1    Houlden, H.2
  • 19
    • 0035954326 scopus 로고    scopus 로고
    • Very late onset Friedreich's presenting as spastic tetraparesis without ataxia or neuropathy
    • Lhatoo, S.D.; Rao, D.G.; Kane, N.M.; Ormerod, I.E. Very late onset Friedreich's presenting as spastic tetraparesis without ataxia or neuropathy. Neurology 2001, 56, 1776-1777.
    • (2001) Neurology , vol.56 , pp. 1776-1777
    • Lhatoo, S.D.1    Rao, D.G.2    Kane, N.M.3    Ormerod, I.E.4
  • 21
    • 70349105130 scopus 로고    scopus 로고
    • The spinocerebellar ataxias
    • Paulson, H.L. The spinocerebellar ataxias. J. Neuroophthalmol. 2009, 29, 227-237.
    • (2009) J. Neuroophthalmol , vol.29 , pp. 227-237
    • Paulson, H.L.1
  • 22
    • 79961158491 scopus 로고    scopus 로고
    • Episodic ataxias 1 and 2
    • Baloh, R.W. Episodic ataxias 1 and 2. Handb. Clin. Neurol. 2012, 103, 595-602.
    • (2012) Handb. Clin. Neurol , vol.103 , pp. 595-602
    • Baloh, R.W.1
  • 23
    • 23844500344 scopus 로고    scopus 로고
    • Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures
    • Jen, J.C.; Wan, J.; Palos, T.P.; Howard, B.D.; Baloh, R.W. Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Neurology 2005, 65, 529-534.
    • (2005) Neurology , vol.65 , pp. 529-534
    • Jen, J.C.1    Wan, J.2    Palos, T.P.3    Howard, B.D.4    Baloh, R.W.5
  • 24
    • 0033910736 scopus 로고    scopus 로고
    • Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia
    • Escayg, A.; de Waard, M.; Lee, D.D.; Bichet, D.; Wolf, P.; Mayer, T.; Johnston, J.; Baloh, R.; Sander, T.; Meisler, M.H. Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am. J. Hum. Genet. 2000, 66, 1531-1539.
    • (2000) Am. J. Hum. Genet , vol.66 , pp. 1531-1539
    • Escayg, A.1    de Waard, M.2    Lee, D.D.3    Bichet, D.4    Wolf, P.5    Mayer, T.6    Johnston, J.7    Baloh, R.8    Sander, T.9    Meisler, M.H.10
  • 28
    • 0033391428 scopus 로고    scopus 로고
    • Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice
    • Cummings, C.J.; Reinstein, E.; Sun, Y.; Antalffy, B.; Jiang, Y.; Ciechanover, A.; Orr, H.T.; Beaudet, A.L.; Zoghbi, H.Y. Mutation of the E6-AP ubiquitin ligase reduces nuclear inclusion frequency while accelerating polyglutamine-induced pathology in SCA1 mice. Neuron 1999, 24, 879-892.
    • (1999) Neuron , vol.24 , pp. 879-892
    • Cummings, C.J.1    Reinstein, E.2    Sun, Y.3    Antalffy, B.4    Jiang, Y.5    Ciechanover, A.6    Orr, H.T.7    Beaudet, A.L.8    Zoghbi, H.Y.9
  • 30
    • 84862804974 scopus 로고    scopus 로고
    • DRPLA transgenic mouse substrains carrying single copy of full-length mutant human DRPLA gene with variable sizes of expanded CAG repeats exhibit CAG repeat length- and age-dependent changes in behavioral abnormalities and gene expression profiles
    • Suzuki, K.; Zhou, J.; Sato, T.; Takao, K.; Miyagawa, T.; Oyake, M.; Yamada, M.; Takahashi, H.; Takahashi, Y.; Goto, J. et al. DRPLA transgenic mouse substrains carrying single copy of full-length mutant human DRPLA gene with variable sizes of expanded CAG repeats exhibit CAG repeat length- and age-dependent changes in behavioral abnormalities and gene expression profiles. Neurobiol. Dis. 2012, 46, 336-350.
    • (2012) Neurobiol. Dis , vol.46 , pp. 336-350
    • Suzuki, K.1    Zhou, J.2    Sato, T.3    Takao, K.4    Miyagawa, T.5    Oyake, M.6    Yamada, M.7    Takahashi, H.8    Takahashi, Y.9    Goto, J.10
  • 32
    • 84884782975 scopus 로고    scopus 로고
    • Repeat-associated non-ATG (RAN) translation in neurological disease
    • Cleary, J.D.; Ranum, L.P.W. Repeat-associated non-ATG (RAN) translation in neurological disease. Hum. Mol. Genet. 2013, 22, R45-R51.
    • (2013) Hum. Mol. Genet , vol.22
    • Cleary, J.D.1    Ranum, L.P.W.2
  • 35
    • 84866419790 scopus 로고    scopus 로고
    • Spinocerebellar ataxia type 28 (SCA28) is an uncommon cause of dominant ataxia among Chinese kindreds
    • Jia, D.; Tang, B.; Chen, Z.; Shi, Y.; Sun, Z.; Zhang, L.; Wang, J.; Xia, K.; Jiang, H. Spinocerebellar ataxia type 28 (SCA28) is an uncommon cause of dominant ataxia among Chinese kindreds. Int. J. Neurosci. 2012,122, 560-562.
    • (2012) Int. J. Neurosci , vol.122 , pp. 560-562
    • Jia, D.1    Tang, B.2    Chen, Z.3    Shi, Y.4    Sun, Z.5    Zhang, L.6    Wang, J.7    Xia, K.8    Jiang, H.9
  • 38
    • 33846882183 scopus 로고    scopus 로고
    • Clinical features and molecular genetics of autosomal recessive cerebellar ataxias
    • Fogel, B.L.; Perlman, S. Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol. 2007, 6, 245-257.
    • (2007) Lancet Neurol , vol.6 , pp. 245-257
    • Fogel, B.L.1    Perlman, S.2
  • 41
    • 0030895266 scopus 로고    scopus 로고
    • A typical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion
    • Bidichandani, S.I.; Ashizawa, T.; Patel, P.I. A typical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion. Am. J. Hum. Genet. 1997, 60, 1251-1256.
    • (1997) Am. J. Hum. Genet , vol.60 , pp. 1251-1256
    • Bidichandani, S.I.1    Ashizawa, T.2    Patel, P.I.3
  • 42
    • 0031941447 scopus 로고    scopus 로고
    • The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure
    • Bidichandani, S.I.; Ashizawa, T.; Patel, P.I. The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am. J. Hum. Genet. 1998, 62, 111-121.
    • (1998) Am. J. Hum. Genet , vol.62 , pp. 111-121
    • Bidichandani, S.I.1    Ashizawa, T.2    Patel, P.I.3
  • 44
    • 84899750944 scopus 로고    scopus 로고
    • Potential New Therapeutic Approach for Friedreich Ataxia: Induction of Frataxin Expression with TALE Proteins
    • Chapdelaine, P.; Coulombe, Z.; Chikh, A.; Gerard, C; Tremblay, J.P. A Potential New Therapeutic Approach for Friedreich Ataxia: Induction of Frataxin Expression with TALE Proteins. Mol. Ther. Nucleic Acids 2013, 2, e119.
    • (2013) Mol. Ther. Nucleic Acids , vol.2
    • Chapdelaine, P.1    Coulombe, Z.2    Chikh, A.3    Gerard, C.4    Tremblay, J.P.A.5
  • 50
    • 0028799833 scopus 로고
    • Prevalence of carriers of premutation-size alleles of the FMRI gene-And implications for the population genetics of the fragile X syndrome
    • Rousseau, F.; Rouillard, P.; Morel, M.L.; Khandjian, E.W.; Morgan, K. Prevalence of carriers of premutation-size alleles of the FMRI gene-And implications for the population genetics of the fragile X syndrome. Am. J. Hum. Genet. 1995, 57, 1006-1018.
    • (1995) Am. J. Hum. Genet , vol.57 , pp. 1006-1018
    • Rousseau, F.1    Rouillard, P.2    Morel, M.L.3    Khandjian, E.W.4    Morgan, K.5
  • 51
    • 0037084852 scopus 로고    scopus 로고
    • Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles
    • Dombrowski, C.; Lévesque, S.; Morel, M.L.; Rouillard, P.; Morgan, K.; Rousseau, F. Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Hum. Mol. Genet. 2002, 11, 371-378.
    • (2002) Hum. Mol. Genet , vol.11 , pp. 371-378
    • Dombrowski, C.1    Lévesque, S.2    Morel, M.L.3    Rouillard, P.4    Morgan, K.5    Rousseau, F.6
  • 55
    • 0025267548 scopus 로고
    • A new mitochondrial disease associated with mitochondrial DNA heteroplasmy
    • Holt, I.J.; Harding, A.E.; Petty, R.K.; Morgan-Hughes, J.A. A new mitochondrial disease associated with mitochondrial DNA heteroplasmy. Am. J. Hum. Genet. 1990, 46, 428-433.
    • (1990) Am. J. Hum. Genet , vol.46 , pp. 428-433
    • Holt, I.J.1    Harding, A.E.2    Petty, R.K.3    Morgan-Hughes, J.A.4
  • 57
    • 84908235039 scopus 로고    scopus 로고
    • Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families
    • doi:10.1111/cge.12279
    • Faruq, M.; Narang, A.; Kumari, R.; Pandey, R.; Garg, A.; Behari, M.; Dash, D.; Srivastava, A.; Mukerji, M. Novel mutations in typical and atypical genetic loci through exome sequencing in autosomal recessive cerebellar ataxia families. Clin. Genet. 2013, doi:10.1111/cge.12279.
    • (2013) Clin. Genet
    • Faruq, M.1    Narang, A.2    Kumari, R.3    Pandey, R.4    Garg, A.5    Behari, M.6    Dash, D.7    Srivastava, A.8    Mukerji, M.9
  • 58
    • 27544440060 scopus 로고    scopus 로고
    • Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky
    • Nikali, K.; Suomalainen, A.; Saharinen, J.; Kuokkanen, M.; Spelbrink, J.N.; Lönnqvist, T.; Peltonen, L. Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. Hum. Mol. Genet. 2005, 14, 2981-2990.
    • (2005) Hum. Mol. Genet , vol.14 , pp. 2981-2990
    • Nikali, K.1    Suomalainen, A.2    Saharinen, J.3    Kuokkanen, M.4    Spelbrink, J.N.5    Lönnqvist, T.6    Peltonen, L.7
  • 59
    • 84887129002 scopus 로고    scopus 로고
    • Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia
    • Hartley, J.N.; Booth, F.A.; del Bigio, M.R.; Mhanni, A.A. Novel Autosomal Recessive c10orf2 Mutations Causing Infantile-Onset Spinocerebellar Ataxia. Case Rep. Pediatr. 2012, 2012, 303096.
    • (2012) Case Rep. Pediatr , pp. 303096
    • Hartley, J.N.1    Booth, F.A.2    del Bigio, M.R.3    Mhanni, A.A.4
  • 60
    • 77953811054 scopus 로고    scopus 로고
    • The human mitochondrial replication fork in health and disease
    • Wanrooij, S.; Falkenberg, M. The human mitochondrial replication fork in health and disease. Biochim. Biophys. Acta 2010, 1797, 1378-1388.
    • (2010) Biochim. Biophys. Acta , vol.1797 , pp. 1378-1388
    • Wanrooij, S.1    Falkenberg, M.2
  • 61
    • 84880440278 scopus 로고    scopus 로고
    • Multiple-System Atrophy Research Collaboration Mutations in COQ2 in familial and sporadic multiple-system atrophy
    • Multiple-System Atrophy Research Collaboration Mutations in COQ2 in familial and sporadic multiple-system atrophy. N. Engl. J. Med. 2013, 369, 233-244.
    • (2013) N. Engl. J. Med , vol.369 , pp. 233-244
  • 62
    • 33646687963 scopus 로고    scopus 로고
    • A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration
    • Lim, J.; Hao, T.; Shaw, C.; Patel, A.J.; Szabó, G.; Rual, J.-F.; Fisk, C.J.; Li, N.; Smolyar, A.; Hill, D.E. et al. A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration. Cell 2006, 125, 801-814.
    • (2006) Cell , vol.125 , pp. 801-814
    • Lim, J.1    Hao, T.2    Shaw, C.3    Patel, A.J.4    Szabó, G.5    Rual, J.-F.6    Fisk, C.J.7    Li, N.8    Smolyar, A.9    Hill, D.E.10
  • 64
    • 17644409069 scopus 로고    scopus 로고
    • ATM activation by DNA double-strand breaks through the Mre11-Rad50- Nbs1 complex
    • Lee, J.-H.; Paull, T.T. ATM activation by DNA double-strand breaks through the Mre11-Rad50- Nbs1 complex. Science 2005, 308, 551-554.
    • (2005) Science , vol.308 , pp. 551-554
    • Lee, J.-H.1    Paull, T.T.2
  • 65
    • 84888774584 scopus 로고    scopus 로고
    • Disease-associated MRE11 mutants impact ATM/ATR DNA damage signaling by distinct mechanisms
    • Regal, J.A.; Festerling, T.A.; Buis, J.M.; Ferguson, D.O. Disease-associated MRE11 mutants impact ATM/ATR DNA damage signaling by distinct mechanisms. Hum. Mol. Genet. 2013, 22, 5146-5159.
    • (2013) Hum. Mol. Genet , vol.22 , pp. 5146-5159
    • Regal, J.A.1    Festerling, T.A.2    Buis, J.M.3    Ferguson, D.O.4
  • 67
    • 34547138954 scopus 로고    scopus 로고
    • Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends
    • Takahashi, T.; Tada, M.; Igarashi, S.; Koyama, A.; Date, H.; Yokoseki, A.; Shiga, A.; Yoshida, Y.; Tsuji, S.; Nishizawa, M. et al. Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends. Nucleic Acids Res. 2007, 35, 3797-3809.
    • (2007) Nucleic Acids Res , vol.35 , pp. 3797-3809
    • Takahashi, T.1    Tada, M.2    Igarashi, S.3    Koyama, A.4    Date, H.5    Yokoseki, A.6    Shiga, A.7    Yoshida, Y.8    Tsuji, S.9    Nishizawa, M.10
  • 68
    • 13744253911 scopus 로고    scopus 로고
    • Deficiency in 3'-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1)
    • Zhou, T.; Lee, J.W.; Tatavarthi, H.; Lupski, J.R.; Valerie, K.; Povirk, L.F. Deficiency in 3'-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1). Nucleic Acids Res. 2005, 33, 289-297.
    • (2005) Nucleic Acids Res , vol.33 , pp. 289-297
    • Zhou, T.1    Lee, J.W.2    Tatavarthi, H.3    Lupski, J.R.4    Valerie, K.5    Povirk, L.F.6
  • 70
    • 0028124225 scopus 로고
    • Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1
    • Browne, D.L.; Gancher, S.T.; Nutt, J.G.; Brunt, E.R.; Smith, E.A.; Kramer, P.; Litt, M. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat. Genet. 1994, 8, 136-140.
    • (1994) Nat. Genet , vol.8 , pp. 136-140
    • Browne, D.L.1    Gancher, S.T.2    Nutt, J.G.3    Brunt, E.R.4    Smith, E.A.5    Kramer, P.6    Litt, M.7
  • 73
    • 0020643801 scopus 로고
    • 2+ from a nonmitochondrial intracellular store in pancreatic acinar cells by inositol-1,4,5-trisphosphate
    • 2+ from a nonmitochondrial intracellular store in pancreatic acinar cells by inositol-1,4,5-trisphosphate. Nature 1983, 306, 67-69.
    • (1983) Nature , vol.306 , pp. 67-69
    • Streb, H.1    Irvine, R.F.2    Berridge, M.J.3    Schulz, I.4
  • 74
    • 67349159879 scopus 로고    scopus 로고
    • Inositol trisphosphate and calcium signalling mechanisms
    • Berridge, M.J. Inositol trisphosphate and calcium signalling mechanisms. Biochim. Biophys. Acta 2009, 1793, 933-940.
    • (2009) Biochim. Biophys. Acta , vol.1793 , pp. 933-940
    • Berridge, M.J.1
  • 76
    • 79959888488 scopus 로고    scopus 로고
    • RNF170 protein, an endoplasmic reticulum membrane ubiquitin ligase, mediates inositol 1,4,5-trisphosphate receptor ubiquitination and degradation
    • Lu, J.P.; Wang, Y.; Sliter, D.A.; Pearce, M.M.P.; Wojcikiewicz, R.J.H. RNF170 protein, an endoplasmic reticulum membrane ubiquitin ligase, mediates inositol 1,4,5-trisphosphate receptor ubiquitination and degradation. J. Biol. Chem. 2011, 286, 24426-24433.
    • (2011) J. Biol. Chem , vol.286 , pp. 24426-24433
    • Lu, J.P.1    Wang, Y.2    Sliter, D.A.3    Pearce, M.M.P.4    Wojcikiewicz, R.J.H.5
  • 80
    • 84875198920 scopus 로고    scopus 로고
    • Transcriptional regulation and its misregulation in disease
    • Lee, T.I.; Young, R.A. Transcriptional regulation and its misregulation in disease. Cell 2013, 152, 1237-1251.
    • (2013) Cell , vol.152 , pp. 1237-1251
    • Lee, T.I.1    Young, R.A.2
  • 83
    • 84896495282 scopus 로고    scopus 로고
    • Mutant Ataxin-3 with an Abnormally Expanded Polyglutamine Chain Disrupts Dendritic Development and Metabotropic Glutamate Receptor Signaling in Mouse Cerebellar Purkinje Cells
    • Konno, A.; Shuvaev, A.N.; Miyake, N.; Miyake, K.; Iizuka, A.; Matsuura, S.; Huda, F.; Nakamura, K.; Yanagi, S.; Shimada, T. et al. Mutant Ataxin-3 with an Abnormally Expanded Polyglutamine Chain Disrupts Dendritic Development and Metabotropic Glutamate Receptor Signaling in Mouse Cerebellar Purkinje Cells. Cerebellum 2013, 13, 29-41.
    • (2013) Cerebellum , vol.13 , pp. 29-41
    • Konno, A.1    Shuvaev, A.N.2    Miyake, N.3    Miyake, K.4    Iizuka, A.5    Matsuura, S.6    Huda, F.7    Nakamura, K.8    Yanagi, S.9    Shimada, T.10
  • 84
    • 0031907862 scopus 로고    scopus 로고
    • Orphan nuclear receptor ROR alpha-deficient mice display the cerebellar defects of staggerer
    • Dussault, I.; Fawcett, D.; Matthyssen, A.; Bader, J.A.; Giguère, V. Orphan nuclear receptor ROR alpha-deficient mice display the cerebellar defects of staggerer. Mech. Dev. 1998, 70, 147-153.
    • (1998) Mech. Dev , vol.70 , pp. 147-153
    • Dussault, I.1    Fawcett, D.2    Matthyssen, A.3    Bader, J.A.4    Giguère, V.5
  • 85
    • 69449101422 scopus 로고    scopus 로고
    • Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation
    • Suraweera, A.; Lim, Y.; Woods, R.; Birrell, G.W.; Nasim, T.; Becherel, O.J.; Lavin, M.F. Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation. Hum. Mol. Genet. 2009, 18, 3384-3396.
    • (2009) Hum. Mol. Genet , vol.18 , pp. 3384-3396
    • Suraweera, A.1    Lim, Y.2    Woods, R.3    Birrell, G.W.4    Nasim, T.5    Becherel, O.J.6    Lavin, M.F.7
  • 87
    • 77954129820 scopus 로고    scopus 로고
    • The right to ignore genetic status of late onset genetic disease in the genomic era; Prenatal testing for Huntington disease as a paradigm
    • Erez, A.; Plunkett, K.; Sutton, V.R.; McGuire, A.L. The right to ignore genetic status of late onset genetic disease in the genomic era; Prenatal testing for Huntington disease as a paradigm. Am. J. Med. Genet. A 2010, 152A, 1774-1780.
    • (2010) Am. J. Med. Genet. A , vol.152 A , pp. 1774-1780
    • Erez, A.1    Plunkett, K.2    Sutton, V.R.3    McGuire, A.L.4
  • 88
    • 84871704394 scopus 로고    scopus 로고
    • It's about having the choice: Stakeholder perceptions of population-based genetic carrier screening for fragile X syndrome
    • Archibald, A.D.; Hickerton, C.L.; Jaques, A.M.; Wake, S.; Cohen, J.; Metcalfe, S.A. "It's about having the choice": Stakeholder perceptions of population-based genetic carrier screening for fragile X syndrome. Am. J. Med. Genet. A 2013, 161A, 48-58.
    • (2013) Am. J. Med. Genet. A , vol.161 A , pp. 48-58
    • Archibald, A.D.1    Hickerton, C.L.2    Jaques, A.M.3    Wake, S.4    Cohen, J.5    Metcalfe, S.A.6
  • 89
    • 84874775589 scopus 로고    scopus 로고
    • Ethical aspects of undergoing a predictive genetic testing for Huntington's disease
    • Andersson, P.L.; Juth, N.; Petersén, Å.; Graff, C.; Edberg, A.-K. Ethical aspects of undergoing a predictive genetic testing for Huntington's disease. Nurs. Ethics 2013, 20, 189-199.
    • (2013) Nurs. Ethics , vol.20 , pp. 189-199
    • Andersson, P.L.1    Juth, N.2    Petersén, Å.3    Graff, C.4    Edberg, A.-K.5
  • 90
    • 84883289469 scopus 로고    scopus 로고
    • Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan
    • Tanaka, K.; Sekijima, Y.; Yoshida, K.; Tamai, M.; Kosho, T.; Sakurai, A.; Wakui, K.; Ikeda, S.; Fukushima, Y. Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan. J. Hum. Genet. 2013, 58, 560-563.
    • (2013) J. Hum. Genet , vol.58 , pp. 560-563
    • Tanaka, K.1    Sekijima, Y.2    Yoshida, K.3    Tamai, M.4    Kosho, T.5    Sakurai, A.6    Wakui, K.7    Ikeda, S.8    Fukushima, Y.9
  • 91
    • 84880178683 scopus 로고    scopus 로고
    • Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: Making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia
    • Doi, H.; Ohba, C.; Tsurusaki, Y.; Miyatake, S.; Miyake, N.; Saitsu, H.; Kawamoto, Y.; Yoshida, T.; Koyano, S.; Suzuki, Y. et al. Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia. Intern. Med. Tokyo Jpn. 2013, 52, 1629-1633.
    • (2013) Intern. Med. Tokyo Jpn , vol.52 , pp. 1629-1633
    • Doi, H.1    Ohba, C.2    Tsurusaki, Y.3    Miyatake, S.4    Miyake, N.5    Saitsu, H.6    Kawamoto, Y.7    Yoshida, T.8    Koyano, S.9    Suzuki, Y.10
  • 92
  • 93
    • 84905580956 scopus 로고    scopus 로고
    • accessed on 18 April
    • Athena Diagnostics: Test Catalog. Available online: http://www.athenadiagnostics.com/ content/test-catalog/ (accessed on 18 April 2014).
    • (2014) Athena Diagnostics: Test Catalog
  • 99


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