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    Results: 1 to 20 of 113

    1.

    Clinical study and PLA2G6 mutation screening analysis in Chinese patients with infantile neuroaxonal dystrophy.

    Wu Y, Jiang Y, Gao Z, Wang J, Yuan Y, Xiong H, Chang X, Bao X, Zhang Y, Xiao J, Wu X.

    Eur J Neurol. 2009 Feb;16(2):240-5. Epub 2008 Dec 9.PMID: 19138334 [PubMed - indexed for MEDLINE]Related articles

    2.

    Clinical and genetic delineation of neurodegeneration with brain iron accumulation.

    Gregory A, Polster BJ, Hayflick SJ.

    J Med Genet. 2009 Feb;46(2):73-80. Epub 2008 Nov 3. Review.PMID: 18981035 [PubMed - indexed for MEDLINE]Related articlesFree article

    3.

    Neurodegeneration associated with genetic defects in phospholipase A(2).

    Gregory A, Westaway SK, Holm IE, Kotzbauer PT, Hogarth P, Sonek S, Coryell JC, Nguyen TM, Nardocci N, Zorzi G, Rodriguez D, Desguerre I, Bertini E, Simonati A, Levinson B, Dias C, Barbot C, Carrilho I, Santos M, Malik I, Gitschier J, Hayflick SJ.

    Neurology. 2008 Oct 28;71(18):1402-9. Epub 2008 Sep 17.PMID: 18799783 [PubMed - indexed for MEDLINE]Related articlesFree article

    4.

    Characterization of PLA2G6 as a locus for dystonia-parkinsonism.

    Paisan-Ruiz C, Bhatia KP, Li A, Hernandez D, Davis M, Wood NW, Hardy J, Houlden H, Singleton A, Schneider SA.

    Ann Neurol. 2009 Jan;65(1):19-23.PMID: 18570303 [PubMed - indexed for MEDLINE]Related articles

    5.

    Phenotypic spectrum of neurodegeneration associated with mutations in the PLA2G6 gene (PLAN).

    Kurian MA, Morgan NV, MacPherson L, Foster K, Peake D, Gupta R, Philip SG, Hendriksz C, Morton JE, Kingston HM, Rosser EM, Wassmer E, Gissen P, Maher ER.

    Neurology. 2008 Apr 29;70(18):1623-9.PMID: 18443314 [PubMed - indexed for MEDLINE]Related articles

    6.

    T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation.

    McNeill A, Birchall D, Hayflick SJ, Gregory A, Schenk JF, Zimmerman EA, Shang H, Miyajima H, Chinnery PF.

    Neurology. 2008 Apr 29;70(18):1614-9.PMID: 18443312 [PubMed - indexed for MEDLINE]Related articlesFree article

    7.

    DOOR syndrome concomitant with non-convulsive status epilepticus and hyperintense cerebellar cortex on T2-weighted imaging.

    Nomura T, Koyama N, Yokoyama M, Awaya A, Yokochi K.

    Brain Dev. 2009 Jan;31(1):75-8. Epub 2008 Apr 28.PMID: 18440741 [PubMed - indexed for MEDLINE]Related articles

    8.

    Infantile neuroaxonal dystrophy: what's most important for the diagnosis?

    Carrilho I, Santos M, Guimarães A, Teixeira J, Chorão R, Martins M, Dias C, Gregory A, Westaway S, Nguyen T, Hayflick S, Barbot C.

    Eur J Paediatr Neurol. 2008 Nov;12(6):491-500. Epub 2008 Mar 21.PMID: 18359254 [PubMed - indexed for MEDLINE]Related articles

    9.

    A case of infantile neuroaxonal dystrophy: connatal Seitelberger disease.

    Chow G, Padfield CJ.

    J Child Neurol. 2008 Apr;23(4):418-20. Epub 2008 Feb 20.PMID: 18287574 [PubMed - indexed for MEDLINE]Related articles

    10.

    Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation.

    Biancheri R, Rossi A, Alpigiani G, Filocamo M, Gandolfo C, Lorini R, Minetti C.

    Eur J Paediatr Neurol. 2007 May;11(3):175-7. Epub 2007 Jan 24.PMID: 17254819 [PubMed - indexed for MEDLINE]Related articles

    11.

    PLA2G6 mutation underlies infantile neuroaxonal dystrophy.

    Khateeb S, Flusser H, Ofir R, Shelef I, Narkis G, Vardi G, Shorer Z, Levy R, Galil A, Elbedour K, Birk OS.

    Am J Hum Genet. 2006 Nov;79(5):942-8. Epub 2006 Sep 19.PMID: 17033970 [PubMed - indexed for MEDLINE]Related articlesFree article

    12.

    PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron.

    Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S, Cangul H, Coryell J, Canham N, Nardocci N, Zorzi G, Pasha S, Rodriguez D, Desguerre I, Mubaidin A, Bertini E, Trembath RC, Simonati A, Schanen C, Johnson CA, Levinson B, Woods CG, Wilmot B, Kramer P, Gitschier J, Maher ER, Hayflick SJ.

    Nat Genet. 2006 Jul;38(7):752-4. Epub 2006 Jun 18. Erratum in: Nat Genet. 2006 Aug;38(8):957. PMID: 16783378 [PubMed - indexed for MEDLINE]Related articlesFree article

    13.

    Cerebellar hypoperfusion in infantile neuroaxonal dystrophy.

    Kóbor J, Javaid A, Omojola MF.

    Pediatr Neurol. 2005 Feb;32(2):137-9.PMID: 15664778 [PubMed - indexed for MEDLINE]Related articles

    14.

    Diffusion magnetic resonance imaging patterns in metabolic and toxic brain disorders.

    Sener RN.

    Acta Radiol. 2004 Aug;45(5):561-70.PMID: 15515520 [PubMed - indexed for MEDLINE]Related articles

    15.

    Infantile neuroaxonal dystrophy and pantothenate-kinase-associated neurodegeneration: locus heterogeneity.

    Hörtnagel K, Nardocci N, Zorzi G, Garavaglia B, Botz E, Meitinger T, Klopstock T.

    Neurology. 2004 Sep 14;63(5):922-4.PMID: 15365152 [PubMed - indexed for MEDLINE]Related articles

    16.

    Neurological aspects of osteopetrosis.

    Steward CG.

    Neuropathol Appl Neurobiol. 2003 Apr;29(2):87-97. Review.PMID: 12662317 [PubMed - indexed for MEDLINE]Related articles

    17.

    Dysmorphic face in two siblings with infantile neuroaxonal dystrophy.

    Seven M, Ozkiliç A, Yüksel A.

    Genet Couns. 2002;13(4):465-73.PMID: 12558119 [PubMed - indexed for MEDLINE]Related articles

    18.

    Diffusion magnetic resonance imaging in infantile neuroaxonal dystrophy.

    Sener RN.

    J Comput Assist Tomogr. 2003 Jan-Feb;27(1):34-7.PMID: 12544240 [PubMed - indexed for MEDLINE]Related articles

    19.

    Infantile neuroaxonal dystrophy (Seitelberger's disease).

    Gordon N.

    Dev Med Child Neurol. 2002 Dec;44(12):849-51. Review. No abstract available. PMID: 12455862 [PubMed - indexed for MEDLINE]Related articles

    20.

    Pantothenate kinase-associated neurodegeneration (Hallervorden-Spatz syndrome).

    Gordon N.

    Eur J Paediatr Neurol. 2002;6(5):243-7. Review.PMID: 12374576 [PubMed - indexed for MEDLINE]Related articles

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