메뉴 건너뛰기




Volumn 2 E, Issue 2, 2010, Pages 701-710

The aristaless (Arx) gene: One gene for many " interneuronopathies"

Author keywords

Aristaless gene; ARX; Interneuronopathies; Review; West syndrome; XLAG

Indexed keywords

ARX PROTEIN, HUMAN; HOMEODOMAIN PROTEIN; TRANSCRIPTION FACTOR;

EID: 77954504270     PISSN: 19450494     EISSN: 19450508     Source Type: Journal    
DOI: 10.2741/e130     Document Type: Review
Times cited : (17)

References (69)
  • 1
    • 0027417887 scopus 로고
    • Molecular genetics of aristaless, a prd-type homeo box gene involved in the morphogenesis of proximal and distal pattern elements in a subset of appendages in Drosophila
    • K. Schneitz, P. Spielmann, M. Noll: Molecular genetics of Aristaless, a prd-type homeo box gene involved in the morphogenesis of proximal and distal pattern elements in a subset of appendages in Drosophila. Genes Dev 7, 114-129 (1993) (Pubitemid 23071205)
    • (1993) Genes and Development , vol.7 , Issue.1 , pp. 114-129
    • Schneitz, K.1    Spielmann, P.2    Noll, M.3
  • 3
    • 14544284572 scopus 로고    scopus 로고
    • A concerted action of a paired-type homeobox gene, aristaless, and a homolog of Hox11/tlx homeobox gene, clawless, is essential for the distal tip development of the Drosophila leg
    • DOI 10.1016/j.ydbio.2004.12.005
    • T. Kojima, T. Tsuji, K. Saigo: A concerted action of a paired-type homeobox gene, aristaless, and a homolog of Hox11/tlx homeobox gene, clawless, is essential for the distal tip development of the Drosophila leg. Dev Biol 279, 434-45 (2005) (Pubitemid 40298750)
    • (2005) Developmental Biology , vol.279 , Issue.2 , pp. 434-445
    • Kojima, T.1    Tsuji, T.2    Saigo, K.3
  • 4
    • 0031695023 scopus 로고    scopus 로고
    • The roles of the homeobox genes aristaless and Distal-less in patterning the legs and wings of Drosophila
    • G. Campbell, A. Tomlinson: The roles of the homeobox genes aristaless and Distal-less in patterning the legs and wings of Drosophila. Development 125, 4483-9 (1998)
    • (1998) Development , vol.125 , pp. 4483-4489
    • Campbell, G.1    Tomlinson, A.2
  • 6
    • 13244253699 scopus 로고    scopus 로고
    • The vertebrate ortholog of Aristaless is regulated by Dlx genes in the developing forebrain
    • DOI 10.1002/cne.20405
    • I. Cobos, V. Broccoli, JL. Rubenstein: The vertebrate ortholog of Aristaless is regulated by Dlx genes in the developing forebrain. J Comp Neurol 483, 292-303 (2005) (Pubitemid 40194423)
    • (2005) Journal of Comparative Neurology , vol.483 , Issue.3 , pp. 292-303
    • Cobos, I.1    Broccoli, V.2    Rubenstein, J.L.R.3
  • 7
    • 56049110230 scopus 로고    scopus 로고
    • Identification of Arx transcriptional targets in the developing basal forebrain
    • Sep. 16 Epub ahead of print
    • CT. Fulp, G. Cho, ED. Marsh, IM. Nasrallah, PA. Labosky, JA. Golden: Identification of Arx transcriptional targets in the developing basal forebrain. Hum Mol Genet Sep. 16 (Epub ahead of print) (2008)
    • (2008) Hum Mol Genet
    • Fulp, C.T.1    Cho, G.2    Marsh, E.D.3    Nasrallah, I.M.4    Labosky, P.A.5    Golden, J.A.6
  • 9
    • 0036020705 scopus 로고    scopus 로고
    • Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX
    • DOI 10.1016/S0387-7604(02)00079-7, PII S0387760402000797
    • P. Strømme, ME. Mangelsdorf, IE. Scheffer, J. Gécz: Infantile spasms, dystonia, and other X-linked phenotypes caused by mutations in Aristaless related homeobox gene, ARX. Brain Dev 24, 266-8 (2002b) (Pubitemid 34828379)
    • (2002) Brain and Development , vol.24 , Issue.5 , pp. 266-268
    • Stromme, P.1    Mangelsdorf, M.E.2    Scheffer, I.E.3    Gecz, J.4
  • 11
    • 34250174769 scopus 로고    scopus 로고
    • Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene
    • DOI 10.1016/j.ygeno.2007.03.005, PII S0888754307000638
    • C. Shoubridge, D. Cloosterman, E. Parkinson-Lawerence, D. Brooks, J. Gécz: Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene. Genomics 90, 59-71 (2007) (Pubitemid 46900994)
    • (2007) Genomics , vol.90 , Issue.1 , pp. 59-71
    • Shoubridge, C.1    Cloosterman, D.2    Parkinson-Lawerence, E.3    Brooks, D.4    Gecz, J.5
  • 13
    • 0031194810 scopus 로고    scopus 로고
    • Expression of a novel aristaless related homeobox gene 'Arx' in the vertebrate telencephalon, diencephalon and floor plate
    • DOI 10.1016/S0925-4773(97)00062-2, PII S0925477397000622
    • H. Miura, M. Yanazawa, K. Kato, K. Kitamura: Expression of a novel aristaless related homeobox gene 'Arx' in the vertebrate telencephalon, diencephalon and floor plate. Mech Dev 65, 99-109 (1997) (Pubitemid 27314593)
    • (1997) Mechanisms of Development , vol.65 , Issue.1-2 , pp. 99-109
    • Miura, H.1    Yanazawa, M.2    Kato, K.3    Kitamura, K.4
  • 14
    • 33751557156 scopus 로고    scopus 로고
    • The homeodomain transcription factor drg11 is expressed in primary sensory neurons and their putative CNS targets during embryonic development of the zebrafish
    • DOI 10.1016/j.modgep.2006.09.003, PII S1567133X06001657
    • LJ. McCormick, JA. Hutt, J. Hazan, C. Houart, J. Cohen: The homeodomain transcription factor drg11 is expressed in primary sensory neurons and their putative CNS targets during embryonic development of the zebrafish. Gene Expr Patterns 7, 289-96 (2007) (Pubitemid 44841784)
    • (2007) Gene Expression Patterns , vol.7 , Issue.3 , pp. 289-296
    • McCormick, L.J.1    Hutt, J.A.2    Hazan, J.3    Houart, C.4    Cohen, J.5
  • 15
    • 34247466477 scopus 로고    scopus 로고
    • Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor
    • DOI 10.1016/j.neuroscience.2007.01.038, PII S0306452207000814
    • O. McKenzie, I. Ponte, M. Mangelsdorf, M. Finnis, G. Colasante, C. Shoubridge, S. Stifani, J. Gécz, V. Broccoli: Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor. Neuroscience 146, 236-47 (2007) (Pubitemid 46654626)
    • (2007) Neuroscience , vol.146 , Issue.1 , pp. 236-247
    • McKenzie, O.1    Ponte, I.2    Mangelsdorf, M.3    Finnis, M.4    Colasante, G.5    Shoubridge, C.6    Stifani, S.7    Gecz, J.8    Broccoli, V.9
  • 18
    • 51849093485 scopus 로고    scopus 로고
    • Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: Evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG)
    • S. Okazaki, M. Ohsawa, I. Kuki, H. Kawawaki, T. Koriyama, S. Ri, H. Ichiba, E Hai, T. Inoue, H. Nakamura, Y. Goto, K. Tomiwa, T. Yamano, K. Kitamura, M. Itoh: Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG). Acta Neuropathol 116, 453-62 (2008)
    • (2008) Acta Neuropathol , vol.116 , pp. 453-462
    • Okazaki, S.1    Ohsawa, M.2    Kuki, I.3    Kawawaki, H.4    Koriyama, T.5    Ri, S.6    Ichiba, H.7    Hai, E.8    Inoue, T.9    Nakamura, H.10    Goto, Y.11    Tomiwa, K.12    Yamano, T.13    Kitamura, K.14    Itoh, M.15
  • 19
    • 0035898685 scopus 로고    scopus 로고
    • Importin 13: A novel mediator of nuclear import and export
    • DOI 10.1093/emboj/20.14.3685
    • J-M. Mingot; S. Kostka, R. Kraft, E. Hartmann, D. Gorlich,: Importin 13: a novel mediator of nuclear import and export. EMBO J 20, 3685-3694 (2001) (Pubitemid 32691780)
    • (2001) EMBO Journal , vol.20 , Issue.14 , pp. 3685-3694
    • Mingot, J.-M.1    Kostka, S.2    Kraft, R.3    Hartmann, E.4    Gorlich, D.5
  • 23
    • 69949134504 scopus 로고    scopus 로고
    • Arx acts as a regional key selector gene in the ventral telencephalon mainly through its transcriptional repression activity
    • Jul. 20 Epub ahead of print
    • G. Colasante, A. Sessa, S. Crispi, R. Calogero, GG. Consalez, A. Mansouri, P. Collombat, V. Broccoli: Arx acts as a regional key selector gene in the ventral telencephalon mainly through its transcriptional repression activity. Dev Biol Jul. 20 (Epub ahead of print) (2009)
    • (2009) Dev Biol
    • Colasante, G.1    Sessa, A.2    Crispi, S.3    Calogero, R.4    Consalez, G.G.5    Mansouri, A.6    Collombat, P.7    Broccoli, V.8
  • 26
    • 0037384953 scopus 로고    scopus 로고
    • X-Linked mental retardation and epilepsy: Pathogenetic significance of ARX mutations
    • DOI 10.1016/S0387-7604(02)00169-9
    • S. Hirose, A. Mitsudome: X-linked mental retardation and epilepsy: pathogenetic significance of ARX mutations. Brain Dev 25, 161-5 (2003) (Pubitemid 36407520)
    • (2003) Brain and Development , vol.25 , Issue.3 , pp. 161-165
    • Hirose, S.1    Mitsudome, A.2
  • 28
    • 0345107244 scopus 로고    scopus 로고
    • The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): One gene leads to many phenotypes
    • DOI 10.1097/00008480-200312000-00004
    • EH. Sherr: The ARX story (epilepsy, mental retardation, autism, and cerebral malformations): one gene leads to many phenotypes. Curr Opin Pediatr 15, 567-71 (2003) (Pubitemid 37487370)
    • (2003) Current Opinion in Pediatrics , vol.15 , Issue.6 , pp. 567-571
    • Sherr, E.H.1
  • 31
    • 33750599689 scopus 로고    scopus 로고
    • A new paradigm for West syndrome based on molecular and cell biology
    • M. Kato: A new paradigm for West syndrome based on molecular and cell biology. Epilepsy Res 70 Suppl 1, S87-95 (2006)
    • (2006) Epilepsy Res , vol.70 , Issue.SUPPL. 1
    • Kato, M.1
  • 32
    • 34547812084 scopus 로고    scopus 로고
    • A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)
    • DOI 10.1086/518903
    • M. Kato, S. Saitoh, A. Kamei, H. Shiraishi, Y. Ueda, M. Akasaka, J. Tohyama, N. Akasaka, K. Hayasaka: A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome). Am. J. Hum. Genet. 81, 361-366 (2007) (Pubitemid 47236082)
    • (2007) American Journal of Human Genetics , vol.81 , Issue.2 , pp. 361-366
    • Kato, M.1    Saitoh, S.2    Kamei, A.3    Shiraishi, H.4    Ueda, Y.5    Akasaka, M.6    Tohyama, J.7    Akasaka, N.8    Hayasaka, K.9
  • 34
    • 3242712257 scopus 로고    scopus 로고
    • Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the aristaless-related homeobox gene
    • DOI 10.1055/s-2004-817919
    • H. Hartmann, G. Uyanik, C. Gross, U. Hehr, T. Lucke, M. Arslan-Kirchner, B. Antosch, AM. Das, J. Winkler: Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene. Neuropediatrics 35, 157-60 (2004) (Pubitemid 38954787)
    • (2004) Neuropediatrics , vol.35 , Issue.3 , pp. 157-160
    • Hartmann, H.1    Uyanik, G.2    Gross, C.3    Hehr, U.4    Lucke, T.5    Arslan-Kirchner, M.6    Antosch, B.7    Das, A.M.8    Winkler, J.9
  • 37
    • 33845713118 scopus 로고    scopus 로고
    • Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation
    • DOI 10.1212/01.wnl.0000247833.29314.5b, PII 0000611420061212000040
    • K. Szczaluba, M. Nawara, K. Poirier, J. Pilch, M. Gajdulewicz, K. Spodar, J. Chelly, J. Bal, T. Mazurczak: Genotype-phenotype associations for ARX gene duplication in X-linked mental retardation. Neurology 67, 2073-2075 (2006) (Pubitemid 44967397)
    • (2006) Neurology , vol.67 , Issue.11 , pp. 2073-2075
    • Szczaluba, K.1    Nawara, M.2    Poirier, K.3    Pilch, J.4    Gajdulewicz, M.5    Spodar, K.6    Chelly, J.7    Bal, J.8    Mazurczak, T.9
  • 40
    • 34447122459 scopus 로고    scopus 로고
    • A novel mutation of the ARX gene in a male with nonsyndromic mental retardation
    • DOI 10.1177/0883073807304000
    • MM. Troester, T. Trachtenberg, V. Narayanan: A novel mutation of the ARX gene in a male with nonsyndromic mental retardation. J Child Neurol 22, 744-8 (2007) (Pubitemid 47034382)
    • (2007) Journal of Child Neurology , vol.22 , Issue.6 , pp. 744-748
    • Troester, M.M.1    Trachtenberg, T.2    Narayanan, V.3
  • 41
    • 0017116633 scopus 로고
    • On the specific age-dependent epileptic syndrome: The early-infantile epileptic encephalopathy with suppression bursts
    • S. Ohtahara, T. Ispida, E. Oka, Y. Yamatogi, H. Inoue, S. Kanda: On the specific age-dependent epileptic syndrome: the early-infantile epileptic encephalopathy with suppression bursts. No Ho Hattatsu 8, 270-280 (1976)
    • (1976) No Ho Hattatsu , vol.8 , pp. 270-280
    • Ohtahara, S.1    Ispida, T.2    Oka, E.3    Yamatogi, Y.4    Inoue, H.5    Kanda, S.6
  • 42
    • 33750591798 scopus 로고    scopus 로고
    • Ohtahara syndrome: With special reference to its developmental aspects for differentiating from early myoclonic encephalopathy
    • S. Ohtahara, Y. Yamatogi: Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy. Epilepsy Res 70(Suppl 1), S58-67 (2006)
    • (2006) Epilepsy Res , vol.70 , Issue.SUPPL. 1
    • Ohtahara, S.1    Yamatogi, Y.2
  • 44
    • 0034783319 scopus 로고    scopus 로고
    • Video/EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome)
    • DOI 10.1016/S0387-7604(01)00280-7, PII S0387760401002807
    • L. Fusco, C. Pachatz, M. Di Capua, F. Vigevano: Video/EEG aspects of early-infantile epileptic encephalopathy with suppression-bursts (Ohtahara syndrome). Brain Dev 23, 708-14 (2001) (Pubitemid 32999154)
    • (2001) Brain and Development , vol.23 , Issue.7 , pp. 708-714
    • Fusco, L.1    Pachatz, C.2    Di Capua, M.3    Vigevano, F.4
  • 45
    • 0013471679 scopus 로고
    • Characterisation of seizures in an hospitalised population of persons with neurofibromatosis
    • D. Friedman, AD. Rothner, M. Estes, R. Cruse, G. Erenberg., E. Wyllie: Characterisation of seizures in an hospitalised population of persons with neurofibromatosis. Epilepsia 30, 670-671 (1989)
    • (1989) Epilepsia , vol.30 , pp. 670-671
    • Friedman, D.1    Rothner, A.D.2    Estes, M.3    Cruse, R.4    Erenberg, G.5    Wyllie, E.6
  • 47
    • 7944238270 scopus 로고    scopus 로고
    • A proposal for case definitions and outcome measures in studies of infantile spasms and West syndrome: Consensus statement of the West Delphi Group
    • DOI 10.1111/j.0013-9580.2004.02404.x
    • A. Lux, J. Osborne: A proposal for case definitions and outcome measures in studies of infantile spasms and West syndrome: consensus statement of the West Delphi group. Epilepsia 45, 1416-28 (2004) (Pubitemid 39470046)
    • (2004) Epilepsia , vol.45 , Issue.11 , pp. 1416-1428
    • Lux, A.L.1    Osborne, J.P.2
  • 48
    • 33750588118 scopus 로고    scopus 로고
    • The influence of etiology upon ictal semiology, treatment decisions and long-term outcome in infantile spasms and West syndrome
    • A. Lux, J. Osborne: The influence of etiology upon ictal semiology, treatment decisions and long-term outcome in infantile spasms and West syndrome. Epilepsy Res 70 S, S77-S86 (2006)
    • (2006) Epilepsy Res , vol.70 S
    • Lux, A.1    Osborne, J.2
  • 50
    • 0024317220 scopus 로고
    • Commission of Classification and Terminology of the International League Against Epilepsy Proposal for revised classification of epilepsies and epileptic syndromes
    • Commission of Classification and Terminology of the International League Against Epilepsy Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 30, 389-399 (1989)
    • (1989) Epilepsia , vol.30 , pp. 389-399
  • 51
    • 33847717602 scopus 로고    scopus 로고
    • Is hypsarrhythmia a form of non-convulsive status epilepticus in infants?
    • DOI 10.1111/j.1600-0404.2007.00808.x
    • AL. Lux: Is hypsarrhythmia a form of nonconvulsive status epilepticus in infants? Acta Neurol Scand 115(Suppl 186), 37-44 (2007) (Pubitemid 46376170)
    • (2007) Acta Neurologica Scandinavica , vol.115 , Issue.SUPPL.186 , pp. 37-44
    • Lux, A.L.1
  • 53
    • 33748641516 scopus 로고    scopus 로고
    • Familial risks for epilepsy among siblings based on hospitalizations in Sweden
    • DOI 10.1159/000094976
    • K. Hemminki, X. Li, S. E. Johansson, K. Sundquist, J. Sundquist: Familial risks for epilepsy among siblings based on hospitalisation in Sweden. Neuroepidemiology 27, 67-73 (2006). (Pubitemid 44387440)
    • (2006) Neuroepidemiology , vol.27 , Issue.2 , pp. 67-73
    • Hemminki, K.1    Li, X.2    Johansson, S.-E.3    Sundquist, K.4    Sundquist, J.5
  • 55
    • 67650478655 scopus 로고    scopus 로고
    • A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx (GCG) 10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment
    • MG. Price, JW. Yoo, DL. Burgess, F. Deng, RA. Hrachovy, JD Jr Frost, JL. Noebels: A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx (GCG) 10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment. J Neurosci 29, 8752-63 (2009).
    • (2009) J Neurosci , vol.29 , pp. 8752-8763
    • Price, M.G.1    Yoo, J.W.2    Burgess, D.L.3    Deng, F.4    Hrachovy, R.A.5    Frost Jr., J.D.6    Noebels, J.L.7
  • 58
    • 34548845828 scopus 로고    scopus 로고
    • Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: First report from Thailand
    • DOI 10.1016/j.ejmg.2007.05.003, PII S1769721207000535
    • S. Rujirabanjerd, K. Tongsippunyoo, T. Sripo, P. Limprasert: Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: first report from Thailand. Eur J Med Genet 50, 346-54 (2007) (Pubitemid 47440149)
    • (2007) European Journal of Medical Genetics , vol.50 , Issue.5 , pp. 346-354
    • Rujirabanjerd, S.1    Tongsippunyoo, K.2    Sripo, T.3    Limprasert, P.4
  • 60
    • 0025734430 scopus 로고
    • The spectrum of lissencephaly: Report of ten patients analyzed by magnetic resonance imaging
    • AJ. Barkovich, TK. Koch, CL. Carrol: The spectrum of lissencephaly: Report of ten patients analyzed by magnetic resonance imaging. Ann Neurol 30, 139-146 (1991).
    • (1991) Ann Neurol , vol.30 , pp. 139-146
    • Barkovich, A.J.1    Koch, T.K.2    Carrol, C.L.3
  • 61
    • 0029000061 scopus 로고
    • Lissencephaly and other malformations of cortical development: 1995 update
    • WB. Dobyns, CL. Truwit: Lissencephaly and other malformations of cortical development: 1995 update. Neuropediatrics 26, 132-147 (1995)
    • (1995) Neuropediatrics , vol.26 , pp. 132-147
    • Dobyns, W.B.1    Truwit, C.L.2
  • 63
    • 0346979678 scopus 로고    scopus 로고
    • Lissencephaly: The clinical and molecular genetic basis of diffuse malformations of neuronal migration
    • Barth PG ed., MacKeith Press - International Review of Child Neurology, London
    • WB. Dobyns, RJ. Levenker: Lissencephaly: the clinical and molecular genetic basis of diffuse malformations of neuronal migration. In: Barth PG (ed.) Disorders of neuronal migration. Eds: Mac Keith Press - International Review of Child Neurology, London:, (2003)
    • (2003) Disorders of Neuronal Migration
    • Dobyns, W.B.1    Levenker, R.J.2
  • 64
    • 40149083216 scopus 로고    scopus 로고
    • Abnormal development of the human cerebral cortex: Genetics, functional consequences and treatment options"
    • R. Guerrini, WB. Dobyns, AJ. Barkovich: Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options". Trends Neurosci 31, 154-62 (2008).
    • (2008) Trends Neurosci , vol.31 , pp. 154-162
    • Guerrini, R.1    Dobyns, W.B.2    Barkovich, A.J.3
  • 65
    • 0026741109 scopus 로고
    • New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum
    • VK. Proud, C. Levine, NJ. Carpenter: New X-linked syndrome with seizures, acquired micrencephaly, and agenesis of the corpus callosum. Am J Med Genet 43, 458-466 (1992)
    • (1992) Am J Med Genet , vol.43 , pp. 458-466
    • Proud, V.K.1    Levine, C.2    Carpenter, N.J.3
  • 66
    • 67349115696 scopus 로고    scopus 로고
    • Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms
    • Y. Shinozaki, M. Osawa, H. Sakuma, H. Komaki, E. Nakagawa, K. Sugai, M. Sasaki, Y. Goto: Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms. Brain Dev 31, 469-72 (2009).
    • (2009) Brain Dev , vol.31 , pp. 469-472
    • Shinozaki, Y.1    Osawa, M.2    Sakuma, H.3    Komaki, H.4    Nakagawa, E.5    Sugai, K.6    Sasaki, M.7    Goto, Y.8
  • 68
    • 68049097103 scopus 로고    scopus 로고
    • A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations
    • O. Reish, T. Fullston, M. Regev, E. Heyman, J. Gecz: A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations. Am J Med Genet A 149 A, 1655-60 (2009)
    • (2009) Am J Med Genet A , vol.149 A , pp. 1655-1660
    • Reish, O.1    Fullston, T.2    Regev, M.3    Heyman, E.4    Gecz, J.5
  • 69
    • 67649870497 scopus 로고    scopus 로고
    • Clinical study of two brothers with a novel 33 bp duplication in the ARX gene
    • MK. Demos, T. Fullston, MW. Partington, J. Gécz, WT. Gibson: Clinical study of two brothers with a novel 33 bp duplication in the ARX gene. Am J Med Genet A 149 A, 1482-6 (2009)
    • (2009) Am J Med Genet A , vol.149 A , pp. 1482-1486
    • Demos, M.K.1    Fullston, T.2    Partington, M.W.3    Gécz, J.4    Gibson, W.T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.