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Volumn 64, Issue 5, 2007, Pages 706-713

Hereditary spastic paraplegia 3A associated with axonal neuropathy

(23)  Ivanova, Neviana a   Claeys, Kristl G b,c   Deconinck, Tine b   Litvinenko, Ivan a   Jordanova, Albena a   Auer Grumbach, Michaela d   Haberlova, Jana e   Löfgren, Ann b   Smeyers, Gisele b   Nelis, Eva b   Mercelis, Rudy c   Plecko, Barbara d   Priller, Josef g   Zámečník, Josef f   Ceulemans, Berten c   Erichsen, Anne Kjersti h   Björck, Erik i   Nicholson, Garth j,k   Sereda, Michael W l,m   Seeman, Pavel e   more..


Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACID SEQUENCE; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; DISEASE ASSOCIATION; ELECTROPHYSIOLOGY; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; MISSENSE MUTATION; MOLECULAR GENETICS; NEUROPATHY; PRIORITY JOURNAL; SCREENING; SPG3A GENE; SPG4 GENE;

EID: 34249011255     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneur.64.5.706     Document Type: Article
Times cited : (44)

References (13)
  • 1
    • 0242270591 scopus 로고    scopus 로고
    • Advances in the hereditary spastic paraplegias
    • Fink JK. Advances in the hereditary spastic paraplegias. Exp Neurol. 2003;184(suppl 1):S106-S110.
    • (2003) Exp Neurol , vol.184 , Issue.SUPPL. 1
    • Fink, J.K.1
  • 2
    • 19944433320 scopus 로고    scopus 로고
    • Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A
    • Abel A, Fonknechten N, Hofer A, et al. Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A. Neurogenetics. 2004;5:239-243.
    • (2004) Neurogenetics , vol.5 , pp. 239-243
    • Abel, A.1    Fonknechten, N.2    Hofer, A.3
  • 3
    • 33644895434 scopus 로고    scopus 로고
    • De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy
    • Rainier S, Sher C, Reish O, Thomas D, Fink JK. De novo occurrence of novel SPG3A/atlastin mutation presenting as cerebral palsy. Arch Neurol. 2006;63:445-447.
    • (2006) Arch Neurol , vol.63 , pp. 445-447
    • Rainier, S.1    Sher, C.2    Reish, O.3    Thomas, D.4    Fink, J.K.5
  • 4
    • 0035184654 scopus 로고    scopus 로고
    • Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia
    • Zhao X, Alvarado D, Rainier S, et al. Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. Nat Genet. 2001;29:326-331.
    • (2001) Nat Genet , vol.29 , pp. 326-331
    • Zhao, X.1    Alvarado, D.2    Rainier, S.3
  • 5
    • 10044286171 scopus 로고    scopus 로고
    • Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia
    • Dürr A, Camuzat A, Colin E, et al. Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia. Arch Neurol. 2004;61:1867-1872.
    • (2004) Arch Neurol , vol.61 , pp. 1867-1872
    • Dürr, A.1    Camuzat, A.2    Colin, E.3
  • 6
    • 0034908554 scopus 로고    scopus 로고
    • Nomenclature for the description of human sequence variations
    • den Dunnen JT, Antonarakis SE. Nomenclature for the description of human sequence variations. Hum Genet. 2001;109:121-124.
    • (2001) Hum Genet , vol.109 , pp. 121-124
    • den Dunnen, J.T.1    Antonarakis, S.E.2
  • 7
    • 0242523160 scopus 로고    scopus 로고
    • SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia
    • Wilkinson PA, Hart PE, Patel H, Warner TT, Crosby AH. SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia. J Neurol Sci. 2003;216:43-45.
    • (2003) J Neurol Sci , vol.216 , pp. 43-45
    • Wilkinson, P.A.1    Hart, P.E.2    Patel, H.3    Warner, T.T.4    Crosby, A.H.5
  • 8
    • 1542783703 scopus 로고    scopus 로고
    • Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus
    • Sauter SM, Engel W, Neumann LM, Kunze J, Neesen J. Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus. Hum Mutat. 2004;23:98.
    • (2004) Hum Mutat , vol.23 , pp. 98
    • Sauter, S.M.1    Engel, W.2    Neumann, L.M.3    Kunze, J.4    Neesen, J.5
  • 9
    • 23944446679 scopus 로고    scopus 로고
    • The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy
    • Scarano V, Mancini P, Criscuolo C, et al. The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy. J Neurol. 2005;252:901-903.
    • (2005) J Neurol , vol.252 , pp. 901-903
    • Scarano, V.1    Mancini, P.2    Criscuolo, C.3
  • 10
    • 0037168428 scopus 로고    scopus 로고
    • SPG3A: An additional family carrying a new atlastin mutation
    • Tessa A, Casali C, Damiano M, et al. SPG3A: an additional family carrying a new atlastin mutation. Neurology. 2002;59:2002-2005.
    • (2002) Neurology , vol.59 , pp. 2002-2005
    • Tessa, A.1    Casali, C.2    Damiano, M.3
  • 11
    • 33645806761 scopus 로고    scopus 로고
    • SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years
    • Namekawa M, Ribai P, Nelson I, et al. SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Neurology. 2006;66:112-114.
    • (2006) Neurology , vol.66 , pp. 112-114
    • Namekawa, M.1    Ribai, P.2    Nelson, I.3
  • 12
    • 2942564556 scopus 로고    scopus 로고
    • Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene
    • D'Amico A, Tessa A, Sabino A, Bertini E, Santorelli FM, Servidei S. Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene. Neurology. 2004;62:2138-2139.
    • (2004) Neurology , vol.62 , pp. 2138-2139
    • D'Amico, A.1    Tessa, A.2    Sabino, A.3    Bertini, E.4    Santorelli, F.M.5    Servidei, S.6
  • 13
    • 33646391969 scopus 로고    scopus 로고
    • A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene
    • Namekawa M, Nelson I, Ribai P, et al. A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene. Neurogenetics. 2006;7:131-132.
    • (2006) Neurogenetics , vol.7 , pp. 131-132
    • Namekawa, M.1    Nelson, I.2    Ribai, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.