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Items: 1 to 20 of 158

1.

North and South Indian populations share a common ancestral origin of Friedreich's ataxia but vary in age of GAA repeat expansion.

Singh I, Faruq M, Mukherjee O, Jain S, Pal PK, Srivastav MV, Behari M, Srivastava AK, Mukerji M.

Ann Hum Genet. 2010 May;74(3):202-10. doi: 10.1111/j.1469-1809.2010.00569.x. Epub 2010 Mar 31.

2.

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
3.

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
4.

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
5.

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
6.

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
7.

Molecular analysis of GAA repeats and four linked bi-allelic markers in and around the frataxin gene in patients and normal populations from India.

Chattopadhyay B, Gupta S, Gangopadhyay PK, Das SK, Roy T, Mukherjee SC, Sinha KK, Singhal BS, Bhattacharyya NP.

Ann Hum Genet. 2004 May;68(Pt 3):189-95.

8.

Evolution of the Friedreich's ataxia trinucleotide repeat expansion: founder effect and premutations.

Cossée M, Schmitt M, Campuzano V, Reutenauer L, Moutou C, Mandel JL, Koenig M.

Proc Natl Acad Sci U S A. 1997 Jul 8;94(14):7452-7.

9.
10.

Trinucleotide (GAA)n repeat expansion in two families with Friedreich's ataxia with retained reflexes.

Kellett MW, Fletcher NA, Wood N, Enevoldson TP.

J Neurol Neurosurg Psychiatry. 1997 Dec;63(6):780-3.

11.

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
12.

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
13.

Frataxin gene point mutations in Italian Friedreich ataxia patients.

Gellera C, Castellotti B, Mariotti C, Mineri R, Seveso V, Didonato S, Taroni F.

Neurogenetics. 2007 Nov;8(4):289-99. Epub 2007 Aug 17.

PMID:
17703324
14.

Limited somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions identified by small pool PCR in blood leukocytes.

Hellenbroich Y, Schwinger E, Zühlke C.

Acta Neurol Scand. 2001 Mar;103(3):188-92.

PMID:
11240567
15.

A novel GAA-repeat-expansion-based mouse model of Friedreich's ataxia.

Anjomani Virmouni S, Ezzatizadeh V, Sandi C, Sandi M, Al-Mahdawi S, Chutake Y, Pook MA.

Dis Model Mech. 2015 Mar;8(3):225-35. doi: 10.1242/dmm.018952. Epub 2015 Feb 13.

16.

Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion.

Labuda M, Labuda D, Miranda C, Poirier J, Soong BW, Barucha NE, Pandolfo M.

Neurology. 2000 Jun 27;54(12):2322-4.

PMID:
10881262
17.

Mapping of the second Friedreich's ataxia (FRDA2) locus to chromosome 9p23-p11: evidence for further locus heterogeneity.

Christodoulou K, Deymeer F, Serdaroğlu P, Ozdemir C, Poda M, Georgiou DM, Ioannou P, Tsingis M, Zamba E, Middleton LT.

Neurogenetics. 2001 Jul;3(3):127-32.

PMID:
11523563
18.

GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology.

Al-Mahdawi S, Pinto RM, Varshney D, Lawrence L, Lowrie MB, Hughes S, Webster Z, Blake J, Cooper JM, King R, Pook MA.

Genomics. 2006 Nov;88(5):580-90. Epub 2006 Aug 17.

19.

A polymorphic miR-155 binding site in AGTR1 is associated with cardiac hypertrophy in Friedreich ataxia.

Kelly M, Bagnall RD, Peverill RE, Donelan L, Corben L, Delatycki MB, Semsarian C.

J Mol Cell Cardiol. 2011 Nov;51(5):848-54. doi: 10.1016/j.yjmcc.2011.07.001. Epub 2011 Jul 12.

PMID:
21771600
20.

[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
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