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Items: 1 to 20 of 89

1.

The Friedreich's ataxia gene encodes a novel phosphatidylinositol-4- phosphate 5-kinase.

Carvajal JJ, Pook MA, dos Santos M, Doudney K, Hillermann R, Minogue S, Williamson R, Hsuan JJ, Chamberlain S.

Nat Genet. 1996 Oct;14(2):157-62.

PMID:
8841185
2.

Exon-intron structure of a 2.7-kb transcript of the STM7 gene with phosphatidylinositol-4-phosphate 5-kinase activity.

Pook MA, Carvajal JJ, Doudney K, Hillermann R, Chamberlain S.

Genomics. 1997 May 15;42(1):170-2.

PMID:
9177790
3.

Identification of a novel transcript of X25, the human gene involved in Friedreich ataxia.

Pianese L, Tammaro A, Turano M, De Biase I, Monticelli A, Cocozza S.

Neurosci Lett. 2002 Mar 8;320(3):137-40.

PMID:
11852181
4.

Friedreich's ataxia. Revision of the phenotype according to molecular genetics.

Schöls L, Amoiridis G, Przuntek H, Frank G, Epplen JT, Epplen C.

Brain. 1997 Dec;120 ( Pt 12):2131-40.

PMID:
9448568
5.
6.

dfh is a Drosophila homolog of the Friedreich's ataxia disease gene.

Cañizares J, Blanca JM, Navarro JA, Monrós E, Palau F, Moltó MD.

Gene. 2000 Oct 3;256(1-2):35-42.

PMID:
11054533
7.

Sequence variation in GAA repeat expansions may cause differential phenotype display in Friedreich's ataxia.

McDaniel DO, Keats B, Vedanarayanan VV, Subramony SH.

Mov Disord. 2001 Nov;16(6):1153-8.

PMID:
11748752
8.

Genotype and phenotype analysis of Friedreich's ataxia compound heterozygous patients.

De Castro M, García-Planells J, Monrós E, Cañizares J, Vázquez-Manrique R, Vílchez JJ, Urtasun M, Lucas M, Navarro G, Izquierdo G, Moltó MD, Palau F.

Hum Genet. 2000 Jan;106(1):86-92.

PMID:
10982187
9.
10.

Very late onset Friedreich's ataxia without cardiomyopathy is associated with limited GAA expansion in the X25 gene.

Gellera C, Pareyson D, Castellotti B, Mazzucchelli F, Zappacosta B, Pandolfo M, Di Donato S.

Neurology. 1997 Oct;49(4):1153-5.

PMID:
9339708
11.

Frataxin gene of Friedreich's ataxia is targeted to mitochondria.

Priller J, Scherzer CR, Faber PW, MacDonald ME, Young AB.

Ann Neurol. 1997 Aug;42(2):265-9.

PMID:
9266741
12.

A case of Friedreich's ataxia confirmed by DNA-analysis.

Atanassov N, Markova V.

Folia Med (Plovdiv). 1998;40(3):11-3.

PMID:
10658348
13.

Friedreich's ataxia: a defect in signal transduction?

Carvajal JJ, Pook MA, Doudney K, Hillermann R, Wilkes D, al-Mahdawi S, Williamson R, Chamberlain S.

Hum Mol Genet. 1995 Aug;4(8):1411-9.

PMID:
7581382
14.

Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion.

Bidichandani SI, Ashizawa T, Patel PI.

Am J Hum Genet. 1997 May;60(5):1251-6. No abstract available.

15.

Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system.

Montermini L, Kish SJ, Jiralerspong S, Lamarche JB, Pandolfo M.

Neurology. 1997 Aug;49(2):606-10.

PMID:
9270608
16.
18.

Friedreich's ataxia and iron metabolism.

Gordon N.

Brain Dev. 2000 Dec;22(8):465-8. Review.

PMID:
11111058
19.

Locus heterogeneity in Friedreich ataxia.

Kostrzewa M, Klockgether T, Damian MS, Müller U.

Neurogenetics. 1997 May;1(1):43-7.

PMID:
10735274
20.

Alleviating transcript insufficiency caused by Friedreich's ataxia triplet repeats.

Grabczyk E, Usdin K.

Nucleic Acids Res. 2000 Dec 15;28(24):4930-7.

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