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

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

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scientific article published on 18 May 2011

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rdf:type	Item
description	article científic (ca) article scientific (oc) articol științific (ro) articolo scientifico (it) artigo científico (gl) artikull shkencor (sq) artikulong pang-agham (tl) artykuł naukowy (pl) bilimsel makale (tr) mokslinis straipsnis (lt) scienca artikolo (eo) teaduslik artikkel (et) tieteellinen artikkeli (fi) tudományos cikk (hu) vedecký článok (sk) vetenskaplig artikel (sv) vitenskapelig artikkel (nb) vitskapeleg artikkel (nn) vědecký článek (cs) wetenschappelijk artikel (nl) επιστημονικό άρθρο (el) мақолаи илмӣ (tg) научна статия (bg) научная статья (ru) научни чланак (sr) מאמר מדעי (he) სამეცნიერო სტატია (ka) บทความทางวิทยาศาสตร์ (th) bài báo khoa học (vi) naučni članak (sr-el) мақолаи илмӣ (tg-cyrl) научни чланак (sr-ec) գիտական հոդված (hy) مقالة علمية (ar) سائنسی مضمون (ur) مقالهٔ علمی (fa) artigo científico (publicado na 2011) (pt) наукова стаття, опублікована в жовтні 2011 (uk) 2011 nî lūn-bûn (nan) 2011年の論文 (ja) 2011년 논문 (ko) artigo científico (publicado na 2011) (pt-br) artículo científico publicado en 2011 (es) ২০১১-এ প্রকাশিত বৈজ্ঞানিক নিবন্ধ (bn) 2011年学术文章 (zh-cn) 2011年学术文章 (zh-sg) 2011年学术文章 (zh-hans) 2011年学术文章 (wuu) 2011年学术文章 (zh-my) 2011年學術文章 (zh) 2011年學術文章 (zh-hk) 2011年學術文章 (zh-tw) 2011年學術文章 (zh-hant) 2011年學術文章 (yue) 2011年學術文章 (zh-mo) article scientifique publié en 2011 (fr) videnskabelig artikel (udgivet 2011) (da) im Mai 2011 veröffentlichter wissenschaftlicher Artikel (de) scientific article published on 18 May 2011 (en) artículu científicu espublizáu en mayu de 2011 (ast)
publication date	wds:Q56984263-ADEBCD5E-2AB5-407C-A348-A17D4E19F447
publication date	2011-05-18 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q56984263-A05C6428-503C-44D0-A654-476D8C825832
language of work or name	English
cites work	wds:Q56984263-07D7A689-5C55-4E39-9F4E-AAACF11FD4F3 wds:Q56984263-5963316A-08FF-4417-9D0A-8462043F5FF2 wds:Q56984263-61B3F8A5-DF80-4C1B-9E55-C67F558C988E wds:Q56984263-76008868-7629-44E4-AEE5-9EF32358805B wds:Q56984263-7F0A54AB-A438-494F-BEA4-E03BA25BB53A wds:Q56984263-93C27BE8-1207-4F4E-9093-FED058A6C6A4 wds:Q56984263-9A56CC4E-E4A3-42CA-B480-51C894984BBF wds:Q56984263-C346D168-9781-4928-9891-D292A4BFC0A6
cites work	Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA). Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia Quantitative proton MRS of Pelizaeus-Merzbacher disease: evidence of dys- and hypomyelination. Fatty acid 2-Hydroxylation in mammalian sphingolipid biology Leukodystrophies: classification, diagnosis, and treatment A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23. Genetic disorders affecting white matter in the pediatric age.
author name string	wds:Q56984263-4CC85CBB-4D1D-4D75-9764-25EB26003B75 wds:Q56984263-6311F1E5-8822-483C-9F1B-713A80133787 wds:Q56984263-9EFD719B-B952-4018-B819-36AF189B0CFD wds:Q56984263-D195FAD1-0D90-497B-AE38-E92635274C87 wds:Q56984263-E35FE97A-5B1A-422F-8231-04959A6D4946 wds:Q56984263-F7D7B129-F51A-4C88-9BB1-D14396700834
author name string	Alberto Verrotti Tommaso Pippucci Valentina Marchiani Roberta Zuntini Claudio Graziano Giovanni Castegnaro
rdfs:label	FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype (en) FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype (nl)
skos:prefLabel	FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype (en) FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype (nl)
name	FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype (en) FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype (nl)
author	wds:Q56984263-18C559A2-7B36-4E80-BED7-151B5C5CB16C

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