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Items: 1 to 20 of 133

1.

Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).

Kruer MC, Paisán-Ruiz C, Boddaert N, Yoon MY, Hama H, Gregory A, Malandrini A, Woltjer RL, Munnich A, Gobin S, Polster BJ, Palmeri S, Edvardson S, Hardy J, Houlden H, Hayflick SJ.

Ann Neurol. 2010 Nov;68(5):611-8. doi: 10.1002/ana.22122.

PMID:
20853438
2.

Three faces of the same gene: FA2H links neurodegeneration with brain iron accumulation, leukodystrophies, and hereditary spastic paraplegias.

Schneider SA, Bhatia KP.

Ann Neurol. 2010 Nov;68(5):575-7. doi: 10.1002/ana.22211. No abstract available. Erratum in: Ann Neurol. 2011 Jul;70(1):187.

PMID:
21031573
3.

FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype.

Garone C, Pippucci T, Cordelli DM, Zuntini R, Castegnaro G, Marconi C, Graziano C, Marchiani V, Verrotti A, Seri M, Franzoni E.

Dev Med Child Neurol. 2011 Oct;53(10):958-61. doi: 10.1111/j.1469-8749.2011.03993.x. Epub 2011 May 18.

4.

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).

Dick KJ, Eckhardt M, Paisán-Ruiz C, Alshehhi AA, Proukakis C, Sibtain NA, Maier H, Sharifi R, Patton MA, Bashir W, Koul R, Raeburn S, Gieselmann V, Houlden H, Crosby AH.

Hum Mutat. 2010 Apr;31(4):E1251-60. doi: 10.1002/humu.21205.

PMID:
20104589
5.

Neuroimaging studies and whole exome sequencing of PLA2G6-associated neurodegeneration in a family with intrafamilial phenotypic heterogeneity.

Kim YJ, Lyoo CH, Hong S, Kim NY, Lee MS.

Parkinsonism Relat Disord. 2015 Apr;21(4):402-6. doi: 10.1016/j.parkreldis.2015.01.010. Epub 2015 Jan 17.

PMID:
25634434
6.

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.

7.

[GENETICALLY DETERMINED DISEASES ASSOCIATED WITH PATHOLOGICAL BRAIN IRON ACCUMULATION AND NEURODEGENERATION].

Ács P, Molnár MJ, Klivényi P, Kálmán B.

Ideggyogy Sz. 2016 Mar 30;69(5-6):157-66. Review. Hungarian.

PMID:
27468605
8.

SPG35 contributes to the second common subtype of AR-HSP in China: frequency analysis and functional characterization of FA2H gene mutations.

Liao X, Luo Y, Zhan Z, Du J, Hu Z, Wang J, Guo J, Hu Z, Yan X, Pan Q, Xia K, Tang B, Shen L.

Clin Genet. 2015;87(1):85-9. doi: 10.1111/cge.12336. Epub 2014 Jan 26.

PMID:
24359114
9.

Mitochondrial protein associated neurodegeneration - case report.

Kłysz B, Skowrońska M, Kmieć T.

Neurol Neurochir Pol. 2014 Jan-Feb;48(1):81-4. doi: 10.1016/j.pjnns.2013.09.002. Epub 2014 Jan 23.

PMID:
24636776
10.

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. doi: 10.1212/01.wnl.0000327094.67726.28. Epub 2008 Sep 17.

11.

Overlapping phenotypes in complex spastic paraplegias SPG11, SPG15, SPG35 and SPG48.

Pensato V, Castellotti B, Gellera C, Pareyson D, Ciano C, Nanetti L, Salsano E, Piscosquito G, Sarto E, Eoli M, Moroni I, Soliveri P, Lamperti E, Chiapparini L, Di Bella D, Taroni F, Mariotti C.

Brain. 2014 Jul;137(Pt 7):1907-20. doi: 10.1093/brain/awu121. Epub 2014 May 15.

PMID:
24833714
12.

PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation.

Dezfouli MA, Alavi A, Rohani M, Rezvani M, Nekuie T, Klotzle B, Tonekaboni SH, Shahidi GA, Elahi E.

Mov Disord. 2013 Feb;28(2):228-32. doi: 10.1002/mds.25271. Epub 2012 Nov 19.

PMID:
23166001
13.

Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families.

Soehn AS, Rattay TW, Beck-Wödl S, Schäferhoff K, Monk D, Döbler-Neumann M, Hörtnagel K, Schlüter A, Ruiz M, Pujol A, Züchner S, Riess O, Schüle R, Bauer P, Schöls L.

Neurology. 2016 Jul 12;87(2):186-91. doi: 10.1212/WNL.0000000000002843. Epub 2016 Jun 17.

PMID:
27316240
14.

Clinicopathological variability in neurodegeneration with brain iron accumulation.

Vincze A, Kapás I, Molnar MJ, Kovács GG.

Ideggyogy Sz. 2010 Mar 30;63(3-4):129-35.

PMID:
20405671
16.

C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.

Panteghini C, Zorzi G, Venco P, Dusi S, Reale C, Brunetti D, Chiapparini L, Zibordi F, Siegel B, Garavaglia B, Simonati A, Bertini E, Nardocci N, Tiranti V.

Semin Pediatr Neurol. 2012 Jun;19(2):75-81. doi: 10.1016/j.spen.2012.03.006. Erratum in: Semin Pediatr Neurol. 2013 Mar;20(1):56. Siegel, Brigitte [corrected to Siegel, Birgit].

PMID:
22704260
17.

Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation.

Tschentscher A, Dekomien G, Ross S, Cremer K, Kukuk GM, Epplen JT, Hoffjan S.

J Neurol Sci. 2015 Feb 15;349(1-2):105-9. doi: 10.1016/j.jns.2014.12.036. Epub 2015 Jan 3.

PMID:
25592411
18.

Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations.

Hayflick SJ, Hartman M, Coryell J, Gitschier J, Rowley H.

AJNR Am J Neuroradiol. 2006 Jun-Jul;27(6):1230-3.

19.

A rare family with Hereditary Spastic Paraplegia Type 35 due to novel FA2H mutations: a case report with literature review.

Cao L, Huang XJ, Chen CJ, Chen SD.

J Neurol Sci. 2013 Jun 15;329(1-2):1-5. doi: 10.1016/j.jns.2013.02.026. Epub 2013 Apr 6. Review.

PMID:
23566484
20.

Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings.

Khalifa M, Naffaa L.

Eur J Med Genet. 2015 Aug;58(8):381-6. doi: 10.1016/j.ejmg.2015.05.009. Epub 2015 Jun 19.

PMID:
26096995

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