-
1
-
-
34249337761
-
Perceptions of epigenetics
-
Bird A,. Perceptions of epigenetics. Nature 2007; 447: 396-398.
-
(2007)
Nature
, vol.447
, pp. 396-398
-
-
Bird, A.1
-
2
-
-
70449725209
-
Epigenetic mechanisms in neurological diseases: Genes, syndromes, and therapies
-
Urdinguio RG, Sanchez-Mut JV, Esteller M,. Epigenetic mechanisms in neurological diseases: genes, syndromes, and therapies. Lancet Neurol 2009; 8: 1056-1072.
-
(2009)
Lancet Neurol
, vol.8
, pp. 1056-1072
-
-
Urdinguio, R.G.1
Sanchez-Mut, J.V.2
Esteller, M.3
-
4
-
-
33846815260
-
Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients
-
De Biase I, Rasmussen A, Endres D, et al. Progressive GAA expansions in dorsal root ganglia of Friedreich's ataxia patients. Ann Neurol 2007; 61: 55-60.
-
(2007)
Ann Neurol
, vol.61
, pp. 55-60
-
-
De Biase, I.1
Rasmussen, A.2
Endres, D.3
-
5
-
-
0019782799
-
Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features
-
Harding AE,. Friedreich's ataxia: a clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features. Brain 1981; 104: 589-620.
-
(1981)
Brain
, vol.104
, pp. 589-620
-
-
Harding, A.E.1
-
6
-
-
67649213875
-
Diagnosis and treatment of Friedreich ataxia: A European perspective
-
Schulz JB, Boesch S, Burk K, et al. Diagnosis and treatment of Friedreich ataxia: a European perspective. Nat Rev Neurol 2009; 5: 222-234.
-
(2009)
Nat Rev Neurol
, vol.5
, pp. 222-234
-
-
Schulz, J.B.1
Boesch, S.2
Burk, K.3
-
8
-
-
0344820730
-
Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes
-
Cossee M, Durr A, Schmitt M, et al. Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol 1999; 45: 200-206.
-
(1999)
Ann Neurol
, vol.45
, pp. 200-206
-
-
Cossee, M.1
Durr, A.2
Schmitt, M.3
-
9
-
-
47249142777
-
Iron-sulfur cluster biogenesis and human disease
-
Rouault TA, Tong WH,. Iron-sulfur cluster biogenesis and human disease. Trends Genet 2008; 24: 398-407.
-
(2008)
Trends Genet
, vol.24
, pp. 398-407
-
-
Rouault, T.A.1
Tong, W.H.2
-
10
-
-
77954930779
-
Friedreich ataxia: Molecular mechanisms, redox considerations, and therapeutic opportunities
-
Santos R, Lefevre S, Sliwa D, et al. Friedreich ataxia: molecular mechanisms, redox considerations, and therapeutic opportunities. Antioxid Redox Signal 2010; 13: 651-690.
-
(2010)
Antioxid Redox Signal
, vol.13
, pp. 651-690
-
-
Santos, R.1
Lefevre, S.2
Sliwa, D.3
-
11
-
-
70349504414
-
Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant
-
Huang ML, Becker EM, Whitnall M, et al. Elucidation of the mechanism of mitochondrial iron loading in Friedreich's ataxia by analysis of a mouse mutant. Proc Natl Acad Sci U S A 2009; 106: 16381-16386.
-
(2009)
Proc Natl Acad Sci U S A
, vol.106
, pp. 16381-16386
-
-
Huang, M.L.1
Becker, E.M.2
Whitnall, M.3
-
12
-
-
0029757676
-
The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia
-
Filla A, De Michele G, Cavalcanti F, et al. The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 1996; 59: 554-560.
-
(1996)
Am J Hum Genet
, vol.59
, pp. 554-560
-
-
Filla, A.1
De Michele, G.2
Cavalcanti, F.3
-
13
-
-
0030904035
-
Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients. Clinical and genetic correlates
-
Lamont P, Davis M, Wood N,. Identification and sizing of the GAA trinucleotide repeat expansion of Friedreich's ataxia in 56 patients. Clinical and genetic correlates. Brain 1997; 120: 673-680.
-
(1997)
Brain
, vol.120
, pp. 673-680
-
-
Lamont, P.1
Davis, M.2
Wood, N.3
-
14
-
-
0033064265
-
Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich's ataxia
-
Santoro L, De Michele G, Perretti A, et al. Relation between trinucleotide GAA repeat length and sensory neuropathy in Friedreich's ataxia. J Neurol Neurosurg Psychiatry 1999; 66: 93-96.
-
(1999)
J Neurol Neurosurg Psychiatry
, vol.66
, pp. 93-96
-
-
Santoro, L.1
De Michele, G.2
Perretti, A.3
-
15
-
-
17744391751
-
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, Schols L, et al. 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. J Mol Med (Berl) 2001; 78: 626-632.
-
(2001)
J Mol Med (Berl)
, vol.78
, pp. 626-632
-
-
Bit-Avragim, N.1
Perrot, A.2
Schols, L.3
-
16
-
-
0031941447
-
The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure
-
Bidichandani SI, Ashizawa T, Patel PI,. The GAA triplet-repeat expansion in Friedreich ataxia interferes with transcription and may be associated with an unusual DNA structure. Am J Hum Genet 1998; 62: 111-121.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 111-121
-
-
Bidichandani, S.I.1
Ashizawa, T.2
Patel, P.I.3
-
17
-
-
3042713271
-
Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers
-
Pianese L, Turano M, Lo Casale MS, et al. Real time PCR quantification of frataxin mRNA in the peripheral blood leucocytes of Friedreich ataxia patients and carriers. J Neurol Neurosurg Psychiatry 2004; 75: 1061-1063.
-
(2004)
J Neurol Neurosurg Psychiatry
, vol.75
, pp. 1061-1063
-
-
Pianese, L.1
Turano, M.2
Lo Casale, M.S.3
-
18
-
-
46749124616
-
Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers
-
Willis JH, Isaya G, Gakh O, et al. Lateral-flow immunoassay for the frataxin protein in Friedreich's ataxia patients and carriers. Mol Genet Metab 2008; 94: 491-497.
-
(2008)
Mol Genet Metab
, vol.94
, pp. 491-497
-
-
Willis, J.H.1
Isaya, G.2
Gakh, O.3
-
19
-
-
77957244407
-
A rapid, noninvasive immunoassay for frataxin: Utility in assessment of Friedreich ataxia
-
Deutsch EC, Santani AB, Perlman SL, et al. A rapid, noninvasive immunoassay for frataxin: utility in assessment of Friedreich ataxia. Mol Genet Metab 2010; 101: 238-245.
-
(2010)
Mol Genet Metab
, vol.101
, pp. 238-245
-
-
Deutsch, E.C.1
Santani, A.B.2
Perlman, S.L.3
-
20
-
-
0037464584
-
DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing
-
Saveliev A, Everett C, Sharpe T, et al. DNA triplet repeats mediate heterochromatin-protein-1-sensitive variegated gene silencing. Nature 2003; 422: 909-913.
-
(2003)
Nature
, vol.422
, pp. 909-913
-
-
Saveliev, A.1
Everett, C.2
Sharpe, T.3
-
21
-
-
34250830900
-
Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia
-
Greene E, Mahishi L, Entezam A, et al. Repeat-induced epigenetic changes in intron 1 of the frataxin gene and its consequences in Friedreich ataxia. Nucleic Acids Res 2007; 35: 3383-3390.
-
(2007)
Nucleic Acids Res
, vol.35
, pp. 3383-3390
-
-
Greene, E.1
Mahishi, L.2
Entezam, A.3
-
22
-
-
56049103058
-
Long intronic GAA*TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia
-
Soragni E, Herman D, Dent SY, et al. Long intronic GAA*TTC repeats induce epigenetic changes and reporter gene silencing in a molecular model of Friedreich ataxia. Nucleic Acids Res 2008; 36: 6056-6065.
-
(2008)
Nucleic Acids Res
, vol.36
, pp. 6056-6065
-
-
Soragni, E.1
Herman, D.2
Dent, S.Y.3
-
23
-
-
39749136603
-
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, et al. The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues. Hum Mol Genet 2008; 17: 735-746.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 735-746
-
-
Al-Mahdawi, S.1
Pinto, R.M.2
Ismail, O.3
-
24
-
-
33748778745
-
Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia
-
Herman D, Jenssen K, Burnett R, et al. Histone deacetylase inhibitors reverse gene silencing in Friedreich's ataxia. Nat Chem Biol 2006; 2: 551-558.
-
(2006)
Nat Chem Biol
, vol.2
, pp. 551-558
-
-
Herman, D.1
Jenssen, K.2
Burnett, R.3
-
25
-
-
44349114629
-
HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model
-
Rai M, Soragni E, Jenssen K, et al. HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model. PLoS One 2008; 3: e1958.
-
(2008)
PLoS One
, vol.3
-
-
Rai, M.1
Soragni, E.2
Jenssen, K.3
-
26
-
-
57349086192
-
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, et al. DNA methylation in intron 1 of the frataxin gene is related to GAA repeat length and age of onset in Friedreich ataxia patients. J Med Genet 2008; 45: 808-812.
-
(2008)
J Med Genet
, vol.45
, pp. 808-812
-
-
Castaldo, I.1
Pinelli, M.2
Monticelli, A.3
-
27
-
-
34249334648
-
Functional recovery in a Friedreich's ataxia mouse model by frataxin gene transfer using an HSV-1 amplicon vector
-
Lim F, Palomo GM, Mauritz C, et al. Functional recovery in a Friedreich's ataxia mouse model by frataxin gene transfer using an HSV-1 amplicon vector. Mol Ther 2007; 15: 1072-1078.
-
(2007)
Mol Ther
, vol.15
, pp. 1072-1078
-
-
Lim, F.1
Palomo, G.M.2
Mauritz, C.3
-
28
-
-
33846308499
-
Infectious delivery and expression of a 135 kb human FRDA genomic DNA locus complements Friedreich's ataxia deficiency in human cells
-
Gomez-Sebastian S, Gimenez-Cassina A, Diaz-Nido J, et al. Infectious delivery and expression of a 135 kb human FRDA genomic DNA locus complements Friedreich's ataxia deficiency in human cells. Mol Ther 2007; 15: 248-254.
-
(2007)
Mol Ther
, vol.15
, pp. 248-254
-
-
Gomez-Sebastian, S.1
Gimenez-Cassina, A.2
Diaz-Nido, J.3
-
30
-
-
77955450939
-
A phase 3, double-blind, placebo-controlled trial of idebenone in Friedreich ataxia
-
Lynch DR, Perlman SL, Meier T,. A phase 3, double-blind, placebo-controlled trial of idebenone in Friedreich ataxia. Arch Neurol 2010; 67: 941-947.
-
(2010)
Arch Neurol
, vol.67
, pp. 941-947
-
-
Lynch, D.R.1
Perlman, S.L.2
Meier, T.3
-
31
-
-
16844371342
-
Measuring Friedreich ataxia: Interrater reliability of a neurologic rating scale
-
Subramony SH, May W, Lynch D, et al. Measuring Friedreich ataxia: interrater reliability of a neurologic rating scale. Neurology 2005; 64: 1261-1262.
-
(2005)
Neurology
, vol.64
, pp. 1261-1262
-
-
Subramony, S.H.1
May, W.2
Lynch, D.3
-
32
-
-
79952945160
-
Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia
-
Holloway TP, Rowley SM, Delatycki MB, Sarsero JP,. Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia. Biotechniques 2011; 50: 182-186.
-
(2011)
Biotechniques
, vol.50
, pp. 182-186
-
-
Holloway, T.P.1
Rowley, S.M.2
Delatycki, M.B.3
Sarsero, J.P.4
-
33
-
-
27644548948
-
Quantitative high-throughput analysis of DNA methylation patterns by base-specific cleavage and mass spectrometry
-
Ehrich M, Nelson MR, Stanssens P, et al. Quantitative high-throughput analysis of DNA methylation patterns by base-specific cleavage and mass spectrometry. Proc Natl Acad Sci U S A 2005; 102: 15785-15790.
-
(2005)
Proc Natl Acad Sci U S A
, vol.102
, pp. 15785-15790
-
-
Ehrich, M.1
Nelson, M.R.2
Stanssens, P.3
-
35
-
-
77952304162
-
Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio
-
Godler DE, Tassone F, Loesch DZ, et al. Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio. Hum Mol Genet 2010; 19: 1618-1632.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 1618-1632
-
-
Godler, D.E.1
Tassone, F.2
Loesch, D.Z.3
-
36
-
-
79956297128
-
Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues
-
Lopez Castel A, Nakamori M, Tome S, et al. Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues. Hum Mol Genet 2011; 20: 1-15.
-
(2011)
Hum Mol Genet
, vol.20
, pp. 1-15
-
-
Lopez Castel, A.1
Nakamori, M.2
Tome, S.3
-
37
-
-
10244264815
-
Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia
-
Pollard LM, Sharma R, Gomez M, et al. Replication-mediated instability of the GAA triplet repeat mutation in Friedreich ataxia. Nucleic Acids Res 2004; 32: 5962-5971.
-
(2004)
Nucleic Acids Res
, vol.32
, pp. 5962-5971
-
-
Pollard, L.M.1
Sharma, R.2
Gomez, M.3
-
38
-
-
33845652267
-
The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model
-
Clark RM, De Biase I, Malykhina AP, et al. The GAA triplet-repeat is unstable in the context of the human FXN locus and displays age-dependent expansions in cerebellum and DRG in a transgenic mouse model. Hum Genet 2007; 120: 633-640.
-
(2007)
Hum Genet
, vol.120
, pp. 633-640
-
-
Clark, R.M.1
De Biase, I.2
Malykhina, A.P.3
-
39
-
-
27644525713
-
Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF
-
Cho DH, Thienes CP, Mahoney SE, et al. Antisense transcription and heterochromatin at the DM1 CTG repeats are constrained by CTCF. Mol Cell 2005; 20: 483-489.
-
(2005)
Mol Cell
, vol.20
, pp. 483-489
-
-
Cho, D.H.1
Thienes, C.P.2
Mahoney, S.E.3
-
40
-
-
33745545413
-
Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8
-
Moseley ML, Zu T, Ikeda Y, et al. Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8. Nat Genet 2006; 38: 758-769.
-
(2006)
Nat Genet
, vol.38
, pp. 758-769
-
-
Moseley, M.L.1
Zu, T.2
Ikeda, Y.3
-
41
-
-
36248967098
-
An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals
-
Ladd PD, Smith LE, Rabaia NA, et al. An antisense transcript spanning the CGG repeat region of FMR1 is upregulated in premutation carriers but silenced in full mutation individuals. Hum Mol Genet 2007; 16: 3174-3187.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 3174-3187
-
-
Ladd, P.D.1
Smith, L.E.2
Rabaia, N.A.3
-
42
-
-
70949099119
-
Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription
-
De Biase I, Chutake YK, Rindler PM, Bidichandani SI,. Epigenetic silencing in Friedreich ataxia is associated with depletion of CTCF (CCCTC-binding factor) and antisense transcription. PLoS One 2009; 4: e7914.
-
(2009)
PLoS One
, vol.4
-
-
De Biase, I.1
Chutake, Y.K.2
Rindler, P.M.3
Bidichandani, S.I.4
-
43
-
-
34250891914
-
Mechanisms of disease: The developmental origins of disease and the role of the epigenotype
-
Ozanne SE, Constancia M,. Mechanisms of disease: the developmental origins of disease and the role of the epigenotype. Nat Clin Pract Endocrinol Metab 2007; 3: 539-546.
-
(2007)
Nat Clin Pract Endocrinol Metab
, vol.3
, pp. 539-546
-
-
Ozanne, S.E.1
Constancia, M.2
-
44
-
-
79952108647
-
DNA repair and the control of DNA methylation
-
Schar P, Fritsch O,. DNA repair and the control of DNA methylation. Prog Drug Res 2011; 67: 51-68.
-
(2011)
Prog Drug Res
, vol.67
, pp. 51-68
-
-
Schar, P.1
Fritsch, O.2
-
45
-
-
65549101751
-
Chromatin remodeling in the noncoding repeat expansion diseases
-
Kumari D, Usdin K,. Chromatin remodeling in the noncoding repeat expansion diseases. J Biol Chem 2009; 284: 7413-7417.
-
(2009)
J Biol Chem
, vol.284
, pp. 7413-7417
-
-
Kumari, D.1
Usdin, K.2
-
46
-
-
41149140859
-
Epigenomic profiling reveals DNA-methylation changes associated with major psychosis
-
Mill J, Tang T, Kaminsky Z, et al. Epigenomic profiling reveals DNA-methylation changes associated with major psychosis. Am J Hum Genet 2008; 82: 696-711.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 696-711
-
-
Mill, J.1
Tang, T.2
Kaminsky, Z.3
-
47
-
-
40849116456
-
Aberrant DNA methylation associated with bipolar disorder identified from discordant monozygotic twins
-
Kuratomi G, Iwamoto K, Bundo M, et al. Aberrant DNA methylation associated with bipolar disorder identified from discordant monozygotic twins. Mol Psychiatry 2008; 13: 429-441.
-
(2008)
Mol Psychiatry
, vol.13
, pp. 429-441
-
-
Kuratomi, G.1
Iwamoto, K.2
Bundo, M.3
-
48
-
-
33846303570
-
Serotonin transporter mRNA levels are associated with the methylation of an upstream CpG island
-
Philibert R, Madan A, Andersen A, et al. Serotonin transporter mRNA levels are associated with the methylation of an upstream CpG island. Am J Med Genet B Neuropsychiatr Genet 2007; 144B: 101-105.
-
(2007)
Am J Med Genet B Neuropsychiatr Genet
, vol.144 B
, pp. 101-105
-
-
Philibert, R.1
Madan, A.2
Andersen, A.3
-
49
-
-
70349573301
-
DNA methylation and gene expression differences in children conceived in vitro or in vivo
-
Katari S, Turan N, Bibikova M, et al. DNA methylation and gene expression differences in children conceived in vitro or in vivo. Hum Mol Genet 2009; 18: 3769-3778.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 3769-3778
-
-
Katari, S.1
Turan, N.2
Bibikova, M.3
-
50
-
-
70649097099
-
Periconceptional maternal folic acid use of 400 microg per day is related to increased methylation of the IGF2 gene in the very young child
-
Steegers-Theunissen RP, Obermann-Borst SA, Kremer D, et al. Periconceptional maternal folic acid use of 400 microg per day is related to increased methylation of the IGF2 gene in the very young child. PLoS One 2009; 4: e7845.
-
(2009)
PLoS One
, vol.4
-
-
Steegers-Theunissen, R.P.1
Obermann-Borst, S.A.2
Kremer, D.3
-
51
-
-
70349163898
-
Chemical probes identify a role for histone deacetylase 3 in Friedreich's ataxia gene silencing
-
Xu C, Soragni E, Chou CJ, et al. Chemical probes identify a role for histone deacetylase 3 in Friedreich's ataxia gene silencing. Chem Biol 2009; 16: 980-989.
-
(2009)
Chem Biol
, vol.16
, pp. 980-989
-
-
Xu, C.1
Soragni, E.2
Chou, C.J.3
-
52
-
-
65349169532
-
Gene therapy approaches to ataxias
-
Lim F, Diaz-Nido J,. Gene therapy approaches to ataxias. Curr Gene Ther 2009; 9: 1-8.
-
(2009)
Curr Gene Ther
, vol.9
, pp. 1-8
-
-
Lim, F.1
Diaz-Nido, J.2
-
53
-
-
79960331887
-
Generation of induced pluripotent stem cell lines from Friedreich ataxia patients
-
Liu J, Verma PJ, Evans-Galea MV, et al. Generation of induced pluripotent stem cell lines from Friedreich ataxia patients. Stem Cell Rev 2011; 7: 703-713.
-
(2011)
Stem Cell Rev
, vol.7
, pp. 703-713
-
-
Liu, J.1
Verma, P.J.2
Evans-Galea, M.V.3
|