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Results: 1 to 20 of 400

1.

[Direct DNA diagnosis of Friedreich's ataxia].

Borský M, Pekarík V, Tvrdíková M, Kozák L.

Cas Lek Cesk. 1999 Oct 20;138(18):557-9. Czech.

PMID:
10596471
[PubMed - indexed for MEDLINE]
2.

The GAA repeat expansion in intron 1 of the frataxin gene is related to the severity of cardiac manifestation in patients with Friedreich's ataxia.

Bit-Avragim N, Perrot A, Schöls L, Hardt C, Kreuz FR, Zühlke C, Bubel S, Laccone F, Vogel HP, Dietz R, Osterziel KJ.

J Mol Med (Berl). 2001;78(11):626-32.

PMID:
11269509
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
Free Article
4.

Friedreich's ataxia and frataxin: molecular genetics, evolution and pathogenesis (Review).

Palau F.

Int J Mol Med. 2001 Jun;7(6):581-9. Review.

PMID:
11351269
[PubMed - indexed for MEDLINE]
5.

Typical Friedreich's ataxia without GAA expansions and GAA expansion without typical Friedreich's ataxia.

McCabe DJ, Ryan F, Moore DP, McQuaid S, King MD, Kelly A, Daly K, Barton DE, Murphy RP.

J Neurol. 2000 May;247(5):346-55. Erratum in: J Neurol 2000 Jun;247(6):483.

PMID:
10896266
[PubMed - indexed for MEDLINE]
6.

Identification and sizing of GAA trinucleotide repeat expansion, investigation for D-loop variations and mitochondrial deletions in Iranian patients with Friedreich's ataxia.

Houshmand M, Panahi MS, Nafisi S, Soltanzadeh A, Alkandari FM.

Mitochondrion. 2006 Apr;6(2):82-8. Epub 2006 Apr 3.

PMID:
16581313
[PubMed - indexed for MEDLINE]
7.

Molecular analysis of Friedreich's ataxia locus in the Indian population.

Mukerji M, Choudhry S, Saleem Q, Padma MV, Maheshwari MC, Jain S.

Acta Neurol Scand. 2000 Oct;102(4):227-9.

PMID:
11071107
[PubMed - indexed for MEDLINE]
8.

Parental gender, age at birth and expansion length influence GAA repeat intergenerational instability in the X25 gene: pedigree studies and analysis of sperm from patients with Friedreich's ataxia.

De Michele G, Cavalcanti F, Criscuolo C, Pianese L, Monticelli A, Filla A, Cocozza S.

Hum Mol Genet. 1998 Nov;7(12):1901-6.

PMID:
9811933
[PubMed - indexed for MEDLINE]
Free Article
9.

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
[PubMed - indexed for MEDLINE]
10.

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
[PubMed - indexed for MEDLINE]
11.

Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions.

Bidichandani SI, Garcia CA, Patel PI, Dimachkie MM.

Arch Neurol. 2000 Feb;57(2):246-51.

PMID:
10681084
[PubMed - indexed for MEDLINE]
12.
13.

[Unusual molecular changes in two families with Friedreich's ataxia].

González MC, Díaz-Golpe V, Hernández L, Martin S, Fernández F.

Neurologia. 2003 Sep;18(7):392-5. Spanish.

PMID:
14505249
[PubMed - indexed for MEDLINE]
14.

GAA repeat polymorphism in Turkish Friedreich's ataxia patients.

Yilmaz MB, Koç AF, Kasap H, Güzel AI, Sarica Y, Süleymanova D.

Int J Neurosci. 2006 May;116(5):565-74.

PMID:
16644517
[PubMed - indexed for MEDLINE]
15.

New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation.

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

Hum Genet. 2004 Apr;114(5):458-63. Epub 2004 Feb 7.

PMID:
14767759
[PubMed - indexed for MEDLINE]
16.

[Friedreich's disease: a real spectrum of clinical manifestations in terms of direct DNA diagnosis].

Illarioshkin SN, Drizuna EB, Bagieva GKh, Markova ED, Miklina NI, Ovchinnikov IV, Ivanova-Smolenskaia IA.

Zh Nevrol Psikhiatr Im S S Korsakova. 1999;99(8):31-4. Russian.

PMID:
11022640
[PubMed - indexed for MEDLINE]
17.

Friedreich's ataxia: cardiac evaluation of 25 patients with clinical diagnosis and literature review.

Albano LM, Nishioka SA, Moysés RL, Wagenführ J, Bertola D, Sugayama SM, Chong AK.

Arq Bras Cardiol. 2002 May;78(5):444-51. Review. English, Portuguese.

PMID:
12045843
[PubMed - indexed for MEDLINE]
Free Article
18.

An association between NIDDM and a GAA trinucleotide repeat polymorphism in the X25/frataxin (Friedreich's ataxia) gene.

Ristow M, Giannakidou E, Hebinck J, Busch K, Vorgerd M, Kotzka J, Knebel B, Mueller-Berghaus J, Epplen C, Pfeiffer A, Kahn CR, Doria A, Krone W, Mueller-Wieland D.

Diabetes. 1998 May;47(5):851-4.

PMID:
9588463
[PubMed - indexed for MEDLINE]
Free Article
19.

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

Atanassov N, Markova V.

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

PMID:
10658348
[PubMed - indexed for MEDLINE]
20.

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion.

Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel JL, Cocozza S, Koenig M, Pandolfo M.

Science. 1996 Mar 8;271(5254):1423-7.

PMID:
8596916
[PubMed - indexed for MEDLINE]

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