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Friedreich ataxia
LE WE PMID CA
Friedreich ataxia930Friedreich Ataxie

ABCC8 SUR1

Anemia (megaloblastic thiamine responsive)

Bererdinelli Seip congenital lipodystrophy

BSCL1 AGPAT2

BSCL2 Seipin

Diabetes mellitus (Hereditary MODY)

Diabetes mellitus (hereditary)

Diabetes mellitus (neonatal)

Donohue s syndrome Leprechaunism

EIF2AK3 PERK

FRA12A mental retardation

Fragile X syndrome

FRAXE mental retardation

FRDA1 Frataxin

Friedreich ataxia

Gene silencing

Genetics (Trinucleotide repeat)

Glucokinase

GLUD1

Insulin resistance type a

Iron (Medical aspects)

KCNJ11 Kir6 2

Lipodystrophy

Myotonic dystrophy

OMIM_601487

OMIM_x600937

Persistent hyperinsulinemic hypoglycemia of infancy

Persistent neonatal hypoglycemia

Rabson Mendenhall s syndrome

Receptor (Insulin)

Receptor (PPAR gamma)

SLC19A2 THTR1

TNDM29locus

Werner s syndrome

Wfs1 Wolframin

Wfs2

Wolcott Rallison syndrome

Wolfram s syndrome DIDMOAD

WRN

1975  
1
2001  
2
Friedreich ataxia: from GAA triplet-repeat expansion to frataxin deficiency.
[11391483] Am J Hum Genet 69(1): 15-24 (2001)
1998  
3
Diagnosing Friedreich's ataxia.
[9613347] Arch Dis Child 78(3): 204-7 (1998)
1984  
4
Friedreich's ataxia. A clinical review with neurophysiological and echocardiographic findings.
[6231891] Arch Dis Child 59(3): 217-21 (1984)
2008  
5
2005  
6
Late-onset Friedreich ataxia: phenotypic analysis, magnetic resonance imaging findings, and review of the literature.
[16344344] Arch Neurol 62(12): 1865-9 (2005)
2002  
7
Friedreich ataxia: effects of genetic understanding on clinical evaluation and therapy.
[12020255] Arch Neurol 59(5): 743-7 (2002)
2000  
8
Very late-onset Friedreich ataxia despite large GAA triplet repeat expansions.
[10681084] Arch Neurol 57(2): 246-51 (2000)
1999  
9
Molecular pathogenesis of Friedreich ataxia.
[10520935] Arch Neurol 56(10): 1201-8 (1999)
2000  
10
Recent advances in the molecular pathogenesis of Friedreich ataxia.
[10767311] Hum Mol Genet 9(6): 887-92 (2000)
2000  
11
Friedreich ataxia: an overview.
[10633128] J Med Genet 37(1): 1-8 (2000)
2001  
12
Friedreich's ataxia and frataxin: molecular genetics, evolution and pathogenesis (Review).
[11351269] Int J Mol Med 7(6): 581-9 (2001)
2009  
13
Chromatin remodeling in the noncoding repeat expansion diseases.
[18957431] J Biol Chem 284(12): 7413-7 (2009)
2010  
14
Does oxidative stress contribute to the pathology of Friedreich's ataxia? A radical question.
[20219987] FASEB J 24(7): 2152-63 (2010)
2010  
15
Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities.
[20156111] Antioxid Redox Signal 13(5): 651-90 (2010)
2002  
16
Friedreich's ataxia: cardiac evaluation of 25 patients with clinical diagnosis and literature review.
[12045843] Arq Bras Cardiol 78(5): 444-51 (2002)
2010  
17
Understanding the molecular mechanisms of Friedreich's ataxia to develop therapeutic approaches.
[20413654] Hum Mol Genet 19(R1): R103-10 (2010)
2007  
18
Small molecules affecting transcription in Friedreich ataxia.
[17826840] Pharmacol Ther 116(2): 236-48 (2007)
2010  
19
Current and emerging treatment options in the management of Friedreich ataxia.
[20856912] Neuropsychiatr Dis Treat 6(-): 491-9 (2010)
2011  
20
Friedreich's ataxia: pathology, pathogenesis, and molecular genetics.
[21315377] J Neurol Sci 303(1-2): 1-12 (2011)
2005  
21
Monogenic syndromes of abnormal glucose homeostasis: clinical review and relevance to the understanding of the pathology of insulin resistance and beta cell failure.
[15772126] J Med Genet 42(12): 893-902 (2005)

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