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Volumn 38, Issue 5, 2007, Pages 261-263

Association of HAX1 deficiency with neurological disorder

Author keywords

Convulsion; Developmental delay; HAX1; Mutation; Neurological disorder; Severe congenital neutropenia

Indexed keywords

LAMOTRIGINE; PHENOBARBITAL; RECOMBINANT GRANULOCYTE COLONY STIMULATING FACTOR;

EID: 41549148667     PISSN: 0174304X     EISSN: None     Source Type: Journal    
DOI: 10.1055/s-2008-1062704     Document Type: Article
Times cited : (36)

References (10)
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    • Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease
    • Ancliff PJ, Gale RE, Liesner R, Hann IM, Linch DC. Mutations in the ELA2 gene encoding neutrophil elastase are present in most patients with sporadic severe congenital neutropenia but only in some patients with the familial form of the disease. Blood 2001; 98: 2645-2650
    • (2001) Blood , vol.98 , pp. 2645-2650
    • Ancliff, P.J.1    Gale, R.E.2    Liesner, R.3    Hann, I.M.4    Linch, D.C.5
  • 2
    • 0034899047 scopus 로고    scopus 로고
    • Infantile genetic agranulocytosis, morbus Kostmann: Presentation of six cases from the original "Kostmann family" and a review
    • Carlsson G, Fasth A. Infantile genetic agranulocytosis, morbus Kostmann: presentation of six cases from the original "Kostmann family" and a review. Acta Paediatr 2001; 90: 757-764
    • (2001) Acta Paediatr , vol.90 , pp. 757-764
    • Carlsson, G.1    Fasth, A.2
  • 3
    • 0034307655 scopus 로고    scopus 로고
    • Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia
    • Dale DC, Person RE, Bolyard AA, Aprikyan AG, Bos C, Bonilla MA et al. Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 2000; 96: 2317-2322
    • (2000) Blood , vol.96 , pp. 2317-2322
    • Dale, D.C.1    Person, R.E.2    Bolyard, A.A.3    Aprikyan, A.G.4    Bos, C.5    Bonilla, M.A.6
  • 4
    • 33747341624 scopus 로고    scopus 로고
    • Hippe A, Bylaite M, Chen M, Mikecz A von, Wolf R, Ruzicka T et al. Expression and tissue distribution of mouse Hax1. Gene 2006; 379: 116-126
    • Hippe A, Bylaite M, Chen M, Mikecz A von, Wolf R, Ruzicka T et al. Expression and tissue distribution of mouse Hax1. Gene 2006; 379: 116-126
  • 6
    • 34250624810 scopus 로고    scopus 로고
    • A cell biological perspective on mitochondrial dysfunction in Parkinson disease and other neurodegenerative diseases
    • Mandemakers W, Morais VA, Strooper B De. A cell biological perspective on mitochondrial dysfunction in Parkinson disease and other neurodegenerative diseases. J Cell Sci 2007; 120: 1707-1716
    • (2007) J Cell Sci , vol.120 , pp. 1707-1716
    • Mandemakers, W.1    Morais, V.A.2    Strooper, B.D.3
  • 9
    • 34548276056 scopus 로고    scopus 로고
    • The clinical, immunohematological, and molecular study of Iranian patients with severe congenital neutropenia
    • Rezaei N, Moin M, Pourpak Z, Ramyar A, Izadyar M, Chavoshzadeh Z et al. The clinical, immunohematological, and molecular study of Iranian patients with severe congenital neutropenia. J Clin Immunol 2007; 27: 525-533
    • (2007) J Clin Immunol , vol.27 , pp. 525-533
    • Rezaei, N.1    Moin, M.2    Pourpak, Z.3    Ramyar, A.4    Izadyar, M.5    Chavoshzadeh, Z.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.