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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

206 related articles for article (PubMed ID: 29938355)

  • 1. Friedreich Ataxia: Diagnostic Yield and Minimal Frequency in South Brazil.
    Fussiger H; Saraiva-Pereira ML; Leistner-Segal S; Jardim LB
    Cerebellum; 2019 Feb; 18(1):147-151. PubMed ID: 29938355
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Molecular and clinical investigation of Iranian patients with Friedreich ataxia.
    Salehi MH; Houshmand M; Aryani O; Kamalidehghan B; Khalili E
    Iran Biomed J; 2014; 18(1):28-33. PubMed ID: 24375160
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 5. 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. PubMed ID: 25681319
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Friedreich ataxia is not only a GAA repeats expansion disorder: implications for molecular testing and counselling.
    Hoffman-Zacharska D; Mazurczak T; Zajkowski T; Tataj R; Górka-Skoczylas P; Połatyńska K; Kępczyński Ł; Stasiołek M; Bal J
    J Appl Genet; 2016 Aug; 57(3):349-55. PubMed ID: 26906906
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunction in Friedreich ataxia.
    Peverill RE; Donelan L; Corben LA; Delatycki MB
    PLoS One; 2018; 13(12):e0209410. PubMed ID: 30596685
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Clinical and molecular studies in five Brazilian cases of Friedreich ataxia.
    Schwartz IV; Jardim LB; Puga AC; Cocozza S; Leistner S; Lima LC
    Arq Neuropsiquiatr; 1999 Mar; 57(1):1-5. PubMed ID: 10347715
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Prominent Spasticity and Hyperreflexia of the Legs in a Nepalese Patient with Friedreich Ataxia.
    Naruse H; Takahashi Y; Ishiura H; Matsukawa T; Mitsui J; Ichikawa Y; Hamada M; Shimizu J; Goto J; Toda T; Tsuji S
    Intern Med; 2019 Oct; 58(19):2865-2869. PubMed ID: 31178521
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Atypical Friedreich ataxia in patients with FXN p.R165P point mutation or comorbid hemochromatosis.
    Ygland E; Taroni F; Gellera C; Caldarazzo S; Duno M; Soller M; Puschmann A
    Parkinsonism Relat Disord; 2014 Aug; 20(8):919-23. PubMed ID: 24816001
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Friedreich's Ataxia (FRDA) is an extremely rare cause of autosomal recessive ataxia in Chinese Han population.
    Zeng J; Wang J; Zeng S; He M; Zeng X; Zhou Y; Liu Z; Jiang H; Tang B
    J Neurol Sci; 2015 Apr; 351(1-2):124-126. PubMed ID: 25765228
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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. PubMed ID: 21771600
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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. PubMed ID: 10681084
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. 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]  

  • 18. Pitfalls in molecular diagnosis of Friedreich ataxia.
    Barcia G; Rachid M; Magen M; Assouline Z; Koenig M; Funalot B; Barnerias C; Rötig A; Munnich A; Bonnefont JP; Steffann J
    Eur J Med Genet; 2018 Aug; 61(8):455-458. PubMed ID: 29530802
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Friedreich ataxia: the clinical picture.
    Pandolfo M
    J Neurol; 2009 Mar; 256 Suppl 1():3-8. PubMed ID: 19283344
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Characterising the neuropathology and neurobehavioural phenotype in Friedreich ataxia: a systematic review.
    Corben LA; Georgiou-Karistianis N; Bradshaw JL; Evans-Galea MV; Churchyard AJ; Delatycki MB
    Adv Exp Med Biol; 2012; 769():169-84. PubMed ID: 23560311
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 11.