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Items: 1 to 20 of 170

1.

Mutations in the fatty acid 2-hydroxylase gene are associated with leukodystrophy with spastic paraparesis and dystonia.

Edvardson S, Hama H, Shaag A, Gomori JM, Berger I, Soffer D, Korman SH, Taustein I, Saada A, Elpeleg O.

Am J Hum Genet. 2008 Nov;83(5):643-8. doi: 10.1016/j.ajhg.2008.10.010.

2.

Mutations in FA2H in three Arab families with a clinical spectrum of neurodegeneration and hereditary spastic paraparesis.

Zaki MS, Selim L, Mansour L, Mahmoud IG, Fenstermaker AG, Gabriel SB, Gleeson JG.

Clin Genet. 2015 Jul;88(1):95-7. doi: 10.1111/cge.12516. Epub 2014 Dec 11. No abstract available.

PMID:
25496456
3.

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
4.

Atypical adult onset complicated spastic paraparesis with thin corpus callosum in two patients carrying a novel FA2H mutation.

Tonelli A, D'Angelo MG, Arrigoni F, Brighina E, Arnoldi A, Citterio A, Bresolin N, Bassi MT.

Eur J Neurol. 2012 Nov;19(11):e127-9. doi: 10.1111/j.1468-1331.2012.03838.x. Epub 2012 Aug 27. No abstract available.

PMID:
22925154
5.

FA2H-dependent fatty acid 2-hydroxylation in postnatal mouse brain.

Alderson NL, Maldonado EN, Kern MJ, Bhat NR, Hama H.

J Lipid Res. 2006 Dec;47(12):2772-80. Epub 2006 Sep 23.

6.

Secondary dystonia and the DYTI gene.

Bressman SB, de Leon D, Raymond D, Greene PE, Brin MF, Fahn S, Ozelius LJ, Breakefield XO, Kramer PL, Risch NJ.

Neurology. 1997 Jun;48(6):1571-7.

PMID:
9191768
7.

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.

8.

KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction.

Dor T, Cinnamon Y, Raymond L, Shaag A, Bouslam N, Bouhouche A, Gaussen M, Meyer V, Durr A, Brice A, Benomar A, Stevanin G, Schuelke M, Edvardson S.

J Med Genet. 2014 Feb;51(2):137-42. doi: 10.1136/jmedgenet-2013-102012. Epub 2013 Dec 6.

PMID:
24319291
9.

EX-HOM (EXome HOMozygosity): a proof of principle.

Pippucci T, Benelli M, Magi A, Martelli PL, Magini P, Torricelli F, Casadio R, Seri M, Romeo G.

Hum Hered. 2011;72(1):45-53. doi: 10.1159/000330164. Epub 2011 Aug 18.

10.

A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region.

Lissens W, Arena A, Seneca S, Rafi M, Sorge G, Liebaers I, Wenger D, Fiumara A.

Hum Mutat. 2007 Jul;28(7):742.

PMID:
17579360
11.

FA2H is responsible for the formation of 2-hydroxy galactolipids in peripheral nervous system myelin.

Maldonado EN, Alderson NL, Monje PV, Wood PM, Hama H.

J Lipid Res. 2008 Jan;49(1):153-61. Epub 2007 Sep 27.

12.

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
13.

A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23.

Dick KJ, Al-Mjeni R, Baskir W, Koul R, Simpson MA, Patton MA, Raeburn S, Crosby AH.

Neurology. 2008 Jul 22;71(4):248-52. doi: 10.1212/01.wnl.0000319610.29522.8a. Epub 2008 May 7.

PMID:
18463364
14.

Fatty acid 2-hydroxylase, encoded by FA2H, accounts for differentiation-associated increase in 2-OH ceramides during keratinocyte differentiation.

Uchida Y, Hama H, Alderson NL, Douangpanya S, Wang Y, Crumrine DA, Elias PM, Holleran WM.

J Biol Chem. 2007 May 4;282(18):13211-9. Epub 2007 Mar 12.

15.

Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes.

Brugman F, Scheffer H, Wokke JH, Nillesen WM, de Visser M, Aronica E, Veldink JH, van den Berg LH.

Neurology. 2008 Nov 4;71(19):1500-5. doi: 10.1212/01.wnl.0000319700.11606.21. Epub 2008 Sep 17.

PMID:
18799786
16.

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

Otto EA, Tory K, Attanasio M, Zhou W, Chaki M, Paruchuri Y, Wise EL, Wolf MT, Utsch B, Becker C, Nürnberg G, Nürnberg P, Nayir A, Saunier S, Antignac C, Hildebrandt F.

J Med Genet. 2009 Oct;46(10):663-70. doi: 10.1136/jmg.2009.066613. Epub 2009 Jun 8.

PMID:
19508969
17.

Forceps minor region signal abnormality "ears of the lynx": an early MRI finding in spastic paraparesis with thin corpus callosum and mutations in the spatacsin gene (SPG11) on chromosome 15.

Riverol M, Samaranch L, Pascual B, Pastor P, Irigoyen J, Pastor MA, de Castro P, Masdeu JC.

J Neuroimaging. 2009 Jan;19(1):52-60. doi: 10.1111/j.1552-6569.2008.00327.x. Epub 2008 Nov 21.

PMID:
19040626
18.
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20.

Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3.

Lefèvre C, Bouadjar B, Ferrand V, Tadini G, Mégarbané A, Lathrop M, Prud'homme JF, Fischer J.

Hum Mol Genet. 2006 Mar 1;15(5):767-76. Epub 2006 Jan 25.

PMID:
16436457

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