These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
518 related articles for article (PubMed ID: 12112211)
1. Friedreich's ataxia with chorea and myoclonus caused by a compound heterozygosity for a novel deletion and the trinucleotide GAA expansion. Zhu D; Burke C; Leslie A; Nicholson GA Mov Disord; 2002 May; 17(3):585-9. PubMed ID: 12112211 [TBL] [Abstract][Full Text] [Related]
2. Extension of the mutation spectrum in Friedreich's ataxia: detection of an exon deletion and novel missense mutations. Zühlke CH; Dalski A; Habeck M; Straube K; Hedrich K; Hoeltzenbein M; Konstanzer A; Hellenbroich Y; Schwinger E Eur J Hum Genet; 2004 Nov; 12(11):979-82. PubMed ID: 15340363 [TBL] [Abstract][Full Text] [Related]
3. Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion. Hanna MG; Davis MB; Sweeney MG; Noursadeghi M; Ellis CJ; Elliot P; Wood NW; Marsden CD Mov Disord; 1998 Mar; 13(2):339-40. PubMed ID: 9539351 [TBL] [Abstract][Full Text] [Related]
4. [Friedreich ataxia with GAA repeat expansion: molecular mechanism and clinical feature]. Tanaka H Nihon Rinsho; 1999 Apr; 57(4):960-6. PubMed ID: 10222797 [TBL] [Abstract][Full Text] [Related]
5. Identification of a missense mutation in a Friedreich's ataxia patient: implications for diagnosis and carrier studies. Bartolo C; Mendell JR; Prior TW Am J Med Genet; 1998 Oct; 79(5):396-9. PubMed ID: 9779809 [TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 10982187 [TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 16581313 [TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 16644517 [TBL] [Abstract][Full Text] [Related]
9. Friedreich ataxia: Detection of GAA repeat expansions and frataxin point mutations. Pandolfo M Methods Mol Med; 2006; 126():197-216. PubMed ID: 16930014 [TBL] [Abstract][Full Text] [Related]
10. Complete FXN deletion in a patient with Friedreich's ataxia. van den Ouweland AM; van Minkelen R; Bolman GM; Wouters CH; Becht-Noordermeer C; Deelen WH; Deelen-Manders JM; Ippel EP; Saris J; Halley DJ Genet Test Mol Biomarkers; 2012 Sep; 16(9):1015-8. PubMed ID: 22691228 [TBL] [Abstract][Full Text] [Related]
11. Friedreich's ataxia: clinical aspects and pathogenesis. Pandolfo M Semin Neurol; 1999; 19(3):311-21. PubMed ID: 12194387 [TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 15180699 [TBL] [Abstract][Full Text] [Related]
13. Friedreich's ataxia: clinical heterogeneity in two sisters. Armani M; Zortea M; Pastorello E; Lombardi S; Tonello S; Zuliani L; Rigoni MT; Trevisan CP Neurol Sci; 2006 Jun; 27(2):140-2. PubMed ID: 16816915 [TBL] [Abstract][Full Text] [Related]
14. The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues. Al-Mahdawi S; Pinto RM; Ismail O; Varshney D; Lymperi S; Sandi C; Trabzuni D; Pook M Hum Mol Genet; 2008 Mar; 17(5):735-46. PubMed ID: 18045775 [TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 11269509 [TBL] [Abstract][Full Text] [Related]
16. Friedreich's ataxia and frataxin: molecular genetics, evolution and pathogenesis (Review). Palau F Int J Mol Med; 2001 Jun; 7(6):581-9. PubMed ID: 11351269 [TBL] [Abstract][Full Text] [Related]
17. Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue. Wilson RB; Roof DM Nat Genet; 1997 Aug; 16(4):352-7. PubMed ID: 9241271 [TBL] [Abstract][Full Text] [Related]
18. DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients. Castaldo I; Pinelli M; Monticelli A; Acquaviva F; Giacchetti M; Filla A; Sacchetti S; Keller S; Avvedimento VE; Chiariotti L; Cocozza S J Med Genet; 2008 Dec; 45(12):808-12. PubMed ID: 18697824 [TBL] [Abstract][Full Text] [Related]
19. Exonic deletions of FXN and early-onset Friedreich ataxia. Anheim M; Mariani LL; Calvas P; Cheuret E; Zagnoli F; Odent S; Seguela C; Marelli C; Fritsch M; Delaunoy JP; Brice A; Dürr A; Koenig M Arch Neurol; 2012 Jul; 69(7):912-6. PubMed ID: 22409940 [TBL] [Abstract][Full Text] [Related]
20. Frataxin point mutations in two patients with Friedreich's ataxia and unusual clinical features. McCormack ML; Guttmann RP; Schumann M; Farmer JM; Stolle CA; Campuzano V; Koenig M; Lynch DR J Neurol Neurosurg Psychiatry; 2000 May; 68(5):661-4. PubMed ID: 10766903 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]