338 related articles for article (PubMed ID: 11054139)
1. Different phenotypes of Friedreich's ataxia within one 'pseudo-dominant' genealogy: relationships between trinucleotide (GAA) repeat lengths and clinical features.
Illarioshkin SN; Bagieva GK; Klyushnikov SA; Ovchinnikov IV; Markova ED; Ivanova-Smolenskaya IA
Eur J Neurol; 2000 Sep; 7(5):535-40. PubMed ID: 11054139
[TBL] [Abstract][Full Text] [Related]
2. 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]
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. PubMed ID: 10982187
[TBL] [Abstract][Full Text] [Related]
4. Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients. Clinical and genetic correlates.
Lamont PJ; Davis MB; Wood NW
Brain; 1997 Apr; 120 ( Pt 4)():673-80. PubMed ID: 9153129
[TBL] [Abstract][Full Text] [Related]
5. Delayed-onset Friedreich's ataxia revisited.
Lecocq C; Charles P; Azulay JP; Meissner W; Rai M; N'Guyen K; Péréon Y; Fabre N; Robin E; Courtois S; Guyant-Maréchal L; Zagnoli F; Rudolf G; Renaud M; Sévin-Allouet M; Lesne F; Alaerts N; Goizet C; Calvas P; Eusebio A; Guissart C; Derkinderen P; Tison F; Brice A; Koenig M; Pandolfo M; Tranchant C; Dürr A; Anheim M
Mov Disord; 2016 Jan; 31(1):62-9. PubMed ID: 26388117
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 10896266
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 11748752
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 9811933
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. 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. PubMed ID: 11071107
[TBL] [Abstract][Full Text] [Related]
11. Biological and clinical characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS) cohort: a cross-sectional analysis of baseline data.
Reetz K; Dogan I; Costa AS; Dafotakis M; Fedosov K; Giunti P; Parkinson MH; Sweeney MG; Mariotti C; Panzeri M; Nanetti L; Arpa J; Sanz-Gallego I; Durr A; Charles P; Boesch S; Nachbauer W; Klopstock T; Karin I; Depondt C; vom Hagen JM; Schöls L; Giordano IA; Klockgether T; Bürk K; Pandolfo M; Schulz JB
Lancet Neurol; 2015 Feb; 14(2):174-82. PubMed ID: 25566998
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. Friedreich's ataxia: clinical aspects and pathogenesis.
Pandolfo M
Semin Neurol; 1999; 19(3):311-21. PubMed ID: 12194387
[TBL] [Abstract][Full Text] [Related]
14. A family with pseudodominant Friedreich's ataxia showing marked variation of phenotype between affected siblings.
Webb S; Doudney K; Pook M; Chamberlain S; Hutchinson M
J Neurol Neurosurg Psychiatry; 1999 Aug; 67(2):217-9. PubMed ID: 10406994
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 9416816
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Clinical and genetic abnormalities in patients with Friedreich's ataxia.
Dürr A; Cossee M; Agid Y; Campuzano V; Mignard C; Penet C; Mandel JL; Brice A; Koenig M
N Engl J Med; 1996 Oct; 335(16):1169-75. PubMed ID: 8815938
[TBL] [Abstract][Full Text] [Related]
19. Determinants of onset age in Friedreich's ataxia.
De Michele G; Filla A; Criscuolo C; Scarano V; Cavalcanti F; Pianese L; Monticelli A; Cocozza S
J Neurol; 1998 Mar; 245(3):166-8. PubMed ID: 9553847
[TBL] [Abstract][Full Text] [Related]
20. Marked variation in the cardiomyopathy associated with Friedreich's ataxia.
Dutka DP; Donnelly JE; Nihoyannopoulos P; Oakley CM; Nunez DJ
Heart; 1999 Feb; 81(2):141-7. PubMed ID: 9922348
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
