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Volumn 23, Issue 3, 2008, Pages 466-468

Focal hand dystonia in a patient with PANK2 mutation

Author keywords

[No Author keywords available]

Indexed keywords

BACLOFEN; CARBIDOPA PLUS LEVODOPA; PANTOTHENATE KINASE 2; TRIHEXYPHENIDYL; PANTOTHENATE KINASE; PHOSPHOTRANSFERASE;

EID: 43049158213     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.21880     Document Type: Article
Times cited : (15)

References (11)
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    • Thomas, M.1    Hayflick, S.J.2    Jankovic, J.3
  • 3
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    • Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res 2001;11:863-874.
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    • Ng, P.C.1    Henikoff, S.2
  • 4
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    • Human non-synonymous SNPs: Server and survey
    • Ramensky V, Bork P, Sunyaev S. Human non-synonymous SNPs: server and survey. Nucleic Acids Res 2002;30:3994-3900.
    • (2002) Nucleic Acids Res , vol.30 , pp. 3994-3900
    • Ramensky, V.1    Bork, P.2    Sunyaev, S.3
  • 5
    • 0037413484 scopus 로고    scopus 로고
    • Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome
    • Hayflick SJ, Westaway SK, Levinson B, et al. Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med 2003;348:33-40.
    • (2003) N Engl J Med , vol.348 , pp. 33-40
    • Hayflick, S.J.1    Westaway, S.K.2    Levinson, B.3
  • 6
    • 33747404210 scopus 로고    scopus 로고
    • Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations
    • Hayflick SJ, Hartman M, Coryell J, Gitschier J, Rowley H. Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations. AJNR Am J Neuroradiol 2006;27:1230-1233.
    • (2006) AJNR Am J Neuroradiol , vol.27 , pp. 1230-1233
    • Hayflick, S.J.1    Hartman, M.2    Coryell, J.3    Gitschier, J.4    Rowley, H.5
  • 7
    • 33746510946 scopus 로고    scopus 로고
    • Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without 'eye-of-the-tiger' sign on MRI in a pair of siblings
    • Zolkipli Z, Dahmoush H, Saunders DE, Chong WK, Surtees R. Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without 'eye-of-the-tiger' sign on MRI in a pair of siblings. Pediatr Radiol 2006;36:884-886.
    • (2006) Pediatr Radiol , vol.36 , pp. 884-886
    • Zolkipli, Z.1    Dahmoush, H.2    Saunders, D.E.3    Chong, W.K.4    Surtees, R.5
  • 8
    • 33644946103 scopus 로고    scopus 로고
    • Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern
    • Valentino P, Annesi G, Ciro Candiano IC, et al. Genetic heterogeneity in patients with pantothenate kinase-associated neurodegeneration and classic magnetic resonance imaging eye-of-the-tiger pattern. Mov Disord 2006;21:252-254.
    • (2006) Mov Disord , vol.21 , pp. 252-254
    • Valentino, P.1    Annesi, G.2    Ciro Candiano, I.C.3
  • 9
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    • The "eye-of-the-tiger" sign is not pathognomonic of the PANK2 mutation
    • Kumar N, Boes CJ, Babovic-Vuksanovic D, Boeve BF. The "eye-of-the-tiger" sign is not pathognomonic of the PANK2 mutation. Arch Neurol 2006;63:292-293.
    • (2006) Arch Neurol , vol.63 , pp. 292-293
    • Kumar, N.1    Boes, C.J.2    Babovic-Vuksanovic, D.3    Boeve, B.F.4
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    • Neurodegenerative disease and iron storage in the brain
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    • Genotypic and phenotypic spectrum of PANK2 mutations in patients with neurodegeneration with brain iron accumulation
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    • (2006) Ann Neurol , vol.59 , pp. 248-256
    • Hartig, M.B.1    Hortnagel, K.2    Garavaglia, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.