160 related articles for article (PubMed ID: 10197066)
1. Early onset cerebellar ataxia and preservation of tendon reflexes: clinical phenotypes associated with GAA trinucleotide repeat expanded and non-expanded genotypes.
De Castro M; Cruz-Martínez A; Vílchez JJ; Sevilla T; Pineda M; Berciano J; Palau F
J Peripher Nerv Syst; 1999; 4(1):58-62. PubMed ID: 10197066
[TBL] [Abstract][Full Text] [Related]
2. 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]
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. 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]
5. 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]
6. Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion.
Montermini L; Richter A; Morgan K; Justice CM; Julien D; Castellotti B; Mercier J; Poirier J; Capozzoli F; Bouchard JP; Lemieux B; Mathieu J; Vanasse M; Seni MH; Graham G; Andermann F; Andermann E; Melançon SB; Keats BJ; Di Donato S; Pandolfo M
Ann Neurol; 1997 May; 41(5):675-82. PubMed ID: 9153531
[TBL] [Abstract][Full Text] [Related]
7. 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. PubMed ID: 9448568
[TBL] [Abstract][Full Text] [Related]
8. Friedreich's ataxia: clinical aspects and pathogenesis.
Pandolfo M
Semin Neurol; 1999; 19(3):311-21. PubMed ID: 12194387
[TBL] [Abstract][Full Text] [Related]
9. [Friedrich's ataxia: clinical difficulties and genetic possibilities].
van de Warrenburg BP; Knoers NV; Kremer HP
Ned Tijdschr Geneeskd; 2002 Sep; 146(36):1669-72. PubMed ID: 12244768
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Early onset cerebellar ataxia with retained tendon reflexes (EOCA): an electromyographic study.
Pal PK; Taly AB; Nagaraja D; Rao S
Electromyogr Clin Neurophysiol; 1996; 36(5):287-93. PubMed ID: 8877321
[TBL] [Abstract][Full Text] [Related]
13. [Differential diagnosis of Friedreich ataxia].
Claus D
Nervenarzt; 1989 Jan; 60(1):26-31. PubMed ID: 2922087
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. GAA trinucleotide repeat expansion in variant Friedreich's ataxia families.
Cruz-Martínez A; Anciones B; Palau F
Muscle Nerve; 1997 Sep; 20(9):1121-6. PubMed ID: 9270667
[TBL] [Abstract][Full Text] [Related]
16. Novel, complex interruptions of the GAA repeat in small, expanded alleles of two affected siblings with late-onset Friedreich ataxia.
Stolle CA; Frackelton EC; McCallum J; Farmer JM; Tsou A; Wilson RB; Lynch DR
Mov Disord; 2008 Jul; 23(9):1303-6. PubMed ID: 18464277
[TBL] [Abstract][Full Text] [Related]
17. Classical Friedreich's ataxia and its genotype.
Martin J; Martin L; Löfgren A; D'Hooghe M; Storm K; Balemans W; Palau F; Van Broeckhoven C
Eur Neurol; 1999; 42(2):109-15. PubMed ID: 10473983
[TBL] [Abstract][Full Text] [Related]
18. Genetic analysis of early onset cerebellar ataxia with retained tendon reflexes in four Tunisian families.
Marzouki N; Belal S; Benhamida C; Benlemlih M; Hentati F
Clin Genet; 2001 Apr; 59(4):257-62. PubMed ID: 11298681
[TBL] [Abstract][Full Text] [Related]
19. 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. PubMed ID: 11748752
[TBL] [Abstract][Full Text] [Related]
20. [Genetic tests: how far should we go? A case of late-onset Friedreich's disease].
Ruolt I; Tranchant C; Warter JM
Rev Neurol (Paris); 2000 Dec; 156(12):1148-50. PubMed ID: 11139731
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]