Format
Sort by
Items per page

Send to

Choose Destination

Search results

Items: 6

1.

A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging.

Salomão RP, Pedroso JL, Gama MT, Dutra LA, Maciel RH, Godeiro-Junior C, Chien HF, Teive HA, Cardoso F, Barsottini OG.

Arq Neuropsiquiatr. 2016 Jul;74(7):587-96. doi: 10.1590/0004-282X20160080. Review.

2.

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
3.

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
4.

Fatty Acid Hydroxylase-Associated Neurodegeneration.

Kruer MC, Gregory A, Hayflick SJ.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Ledbetter N, Mefford HC, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2011 Jun 28 [updated 2012 Sep 20].

5.

Syndromes of neurodegeneration with brain iron accumulation.

Schneider SA, Bhatia KP.

Semin Pediatr Neurol. 2012 Jun;19(2):57-66. doi: 10.1016/j.spen.2012.03.005. Review.

PMID:
22704258
6.

Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.

Pierson TM, Simeonov DR, Sincan M, Adams DA, Markello T, Golas G, Fuentes-Fajardo K, Hansen NF, Cherukuri PF, Cruz P, Mullikin JC, Blackstone C, Tifft C, Boerkoel CF, Gahl WA; NISC Comparative Sequencing Program.

Eur J Hum Genet. 2012 Apr;20(4):476-9. doi: 10.1038/ejhg.2011.222. Epub 2011 Dec 7.

Supplemental Content

Loading ...
Support Center