-
1
-
-
0026736715
-
Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy
-
Filla A, De Michele G, Marconi R et al (1992) Prevalence of hereditary ataxias and spastic paraplegias in Molise, a region of Italy. J Neurol 239:351-353
-
(1992)
J Neurol
, vol.239
, pp. 351-353
-
-
Filla, A.1
De Michele, G.2
Marconi, R.3
-
2
-
-
0034720861
-
Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion
-
Labuda M, Labuda D, Miranda C et al (2000) Unique origin and specific ethnic distribution of the Friedreich ataxia GAA expansion. Neurology 54:2322-2324
-
(2000)
Neurology
, vol.54
, pp. 2322-2324
-
-
Labuda, M.1
Labuda, D.2
Miranda, C.3
-
4
-
-
0017056474
-
Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia
-
Geoffroy G, Barbeau A, Breton A et al (1976) Clinical description and roentgenologic evaluation of patients with Friedreich's ataxia. Can J Neurol Sci 3:279-286
-
(1976)
Can J Neurol Sci
, vol.3
, pp. 279-286
-
-
Geoffroy, G.1
Barbeau, A.2
Breton, A.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 (1981) 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 104:589-620
-
(1981)
Brain
, vol.104
, pp. 589-620
-
-
Harding, A.E.1
-
6
-
-
0029961968
-
Age of onset, sex and cardiomyopathy as predictors of disability and survival in Friedreich's disease. A retrospective study on 119 patients
-
De Michele G, Perrone F, Filla A et al (1966) Age of onset, sex and cardiomyopathy as predictors of disability and survival in Friedreich's disease. A retrospective study on 119 patients. Neurology 47:1260-1264
-
(1966)
Neurology
, vol.47
, pp. 1260-1264
-
-
De Michele, G.1
Perrone, F.2
Filla, A.3
-
7
-
-
0020696198
-
Friedreich's ataxia: Electrophysiological and histological findings
-
Caruso G, Santoro L, Perretti A et al (1983) Friedreich's ataxia: electrophysiological and histological findings. Acta Neurol Scand 67:26-40
-
(1983)
Acta Neurol Scand
, vol.67
, pp. 26-40
-
-
Caruso, G.1
Santoro, L.2
Perretti, A.3
-
8
-
-
0023751357
-
Mapping of mutation causing Friedreich's ataxia to human chromosome 9
-
Chamberlain S, Shaw J, Rowland A et al (1988) Mapping of mutation causing Friedreich's ataxia to human chromosome 9. Nature 334:248-250
-
(1988)
Nature
, vol.334
, pp. 248-250
-
-
Chamberlain, S.1
Shaw, J.2
Rowland, A.3
-
9
-
-
13344270899
-
Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
-
Campuzano V, Montermini L, Moltò MD et al (1996) Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271:1423-1427
-
(1996)
Science
, vol.271
, pp. 1423-1427
-
-
Campuzano, V.1
Montermini, L.2
Moltò, M.D.3
-
10
-
-
0033120042
-
Sticky DNA: Self-association properties of long GAA TCC repeats in R.R.Y. triplex structures from Friedreich's ataxia
-
Sakamoto N, Chastain PD, Parniewski P et al (1999) Sticky DNA: self-association properties of long GAA TCC repeats in R.R.Y. triplex structures from Friedreich's ataxia. Mol Cell 3:465-475
-
(1999)
Mol Cell
, vol.3
, pp. 465-475
-
-
Sakamoto, N.1
Chastain, P.D.2
Parniewski, P.3
-
11
-
-
8544240144
-
The Friedreich ataxia GAA triplet repeat: Premutation and normal alleles
-
Montermini L, Andermann E, Labuda M et al (1997) The Friedreich ataxia GAA triplet repeat: premutation and normal alleles. Hum Mol Genet 6:1261-1266
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1261-1266
-
-
Montermini, L.1
Andermann, E.2
Labuda, M.3
-
12
-
-
0031739916
-
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 et al (1998) 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. Hum Mol Genet 7:1901-1906
-
(1998)
Hum Mol Genet
, vol.7
, pp. 1901-1906
-
-
De Michele, G.1
Cavalcanti, F.2
Criscuolo, C.3
-
13
-
-
0030296878
-
Friedreich's ataxia protein: Bacterial homologues point to mitochondrial dysfunction
-
Gibson TJ, Koonin EV, Musco G et al (1996) Friedreich's ataxia protein: bacterial homologues point to mitochondrial dysfunction. Trends Neurosci 19:465-468
-
(1996)
Trends Neurosci
, vol.19
, pp. 465-468
-
-
Gibson, T.J.1
Koonin, E.V.2
Musco, G.3
-
14
-
-
9844222853
-
Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes
-
Campuzano V, Montermini L, Lutz Y et al (1997) Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes. Hum Mol Genet 6:1771-1780
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1771-1780
-
-
Campuzano, V.1
Montermini, L.2
Lutz, Y.3
-
15
-
-
0030846021
-
Regulation of mitochondrial iron accumulation by Yfhlp, a putative homologue of frataxin
-
Babcock R, deSilva D, Oaks R et al (1997) Regulation of mitochondrial iron accumulation by Yfhlp, a putative homologue of frataxin. Science 276:1709-1712
-
(1997)
Science
, vol.276
, pp. 1709-1712
-
-
Babcock, R.1
DeSilva, D.2
Oaks, R.3
-
16
-
-
0019169563
-
The cardiomyopathy of Friedreich's ataxia: A morphological observations in 3 cases
-
Lamarche JB, Cote M, Lemieux B (1980) The cardiomyopathy of Friedreich's ataxia: a morphological observations in 3 cases. Can J Neurol Sci 7:389-396
-
(1980)
Can J Neurol Sci
, vol.7
, pp. 389-396
-
-
Lamarche, J.B.1
Cote, M.2
Lemieux, B.3
-
17
-
-
0031253821
-
Frataxin gene expansion causes aconitase and mitochondrial iron-sulfur protein deficiency in Friedreich ataxia
-
Rötig A, deLonlay P, Chretien D et al (1997) Frataxin gene expansion causes aconitase and mitochondrial iron-sulfur protein deficiency in Friedreich ataxia. Nat Genet 17:215-217
-
(1997)
Nat Genet
, vol.17
, pp. 215-217
-
-
Rötig, A.1
Delonlay, P.2
Chretien, D.3
-
18
-
-
0029757676
-
The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia
-
Filla A, De Michele G, Cavalcanti F et al (1996) The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia. Am J Hum Genet 59:554-560
-
(1996)
Am J Hum Genet
, vol.59
, pp. 554-560
-
-
Filla, A.1
De Michele, G.2
Cavalcanti, F.3
-
19
-
-
0029821176
-
Clinical and genetic abnormalities in patients with Friedreich's ataxia
-
Dürr A, Cossee M, Agid Y et al (1996) Clinical and genetic abnormalities in patients with Friedreich's ataxia. N Engl J Med 336:1169-1175
-
(1996)
N Engl J Med
, vol.336
, pp. 1169-1175
-
-
Dürr, A.1
Cossee, M.2
Agid, Y.3
-
20
-
-
17144467700
-
Phenotypic variability in Friedreich ataxia: Role of the associated GAA triplet repeat expansion
-
Montermini L, Richter A, Morgan K et al (1997) Phenotypic variability in Friedreich ataxia: role of the associated GAA triplet repeat expansion. Ann Neurol 41:675-682
-
(1997)
Ann Neurol
, vol.41
, pp. 675-682
-
-
Montermini, L.1
Richter, A.2
Morgan, K.3
-
21
-
-
0030862745
-
Phenotypic correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat
-
Monros E, Moltò MD, Martinez F et al (1997) Phenotypic correlation and intergenerational dynamics of the Friedreich ataxia GAA trinucleotide repeat. Ann J Hum Genet 61:101-110
-
(1997)
Ann J Hum Genet
, vol.61
, pp. 101-110
-
-
Monros, E.1
Moltò, M.D.2
Martinez, F.3
-
22
-
-
0033064265
-
The relationship between trinucleotide GAA repeat length and sensory neuropathy in Friedreich ataxia
-
Santoro L, De Michele G, Perretti A et al (1999) The relationship between trinucleotide GAA repeat length and sensory neuropathy in Friedreich ataxia. J Neurol Neurosurg Psychiatry 66:93-96
-
(1999)
J Neurol Neurosurg Psychiatry
, vol.66
, pp. 93-96
-
-
Santoro, L.1
De Michele, G.2
Perretti, A.3
-
23
-
-
0344820730
-
Friedreich's ataxia: Point mutations and clinical presentation of compound heterozygotes
-
Cossée M, Dürr A, Schmitt M et al (1999) Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes. Ann Neurol 45:200-206
-
(1999)
Ann Neurol
, vol.45
, pp. 200-206
-
-
Cossée, M.1
Dürr, A.2
Schmitt, M.3
-
24
-
-
17344377955
-
Atypical Friedreich ataxia phenotype associated with a novel missense mutation in the X25 gene
-
De Michele G, Filla A, Cavalcanti F et al (2000) Atypical Friedreich ataxia phenotype associated with a novel missense mutation in the X25 gene. Neurology 54:496-499
-
(2000)
Neurology
, vol.54
, pp. 496-499
-
-
De Michele, G.1
Filla, A.2
Cavalcanti, F.3
-
25
-
-
0028120296
-
Late onset Friedreich's disease: Clinical features and mapping of mutation to FRDA locus
-
De Michele G, Filla A, Cavalcanti F et al (1994) Late onset Friedreich's disease: clinical features and mapping of mutation to FRDA locus. J Neurol Neurosurg Psychiatry 57:977-979
-
(1994)
J Neurol Neurosurg Psychiatry
, vol.57
, pp. 977-979
-
-
De Michele, G.1
Filla, A.2
Cavalcanti, F.3
-
26
-
-
0028941326
-
Early onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q
-
Palau F, De Michele G, Vilchez J et al (1995) Early onset ataxia with cardiomyopathy and retained tendon reflexes maps to the Friedreich's ataxia locus on chromosome 9q. Ann Neurol 37:359-362
-
(1995)
Ann Neurol
, vol.37
, pp. 359-362
-
-
Palau, F.1
De Michele, G.2
Vilchez, J.3
-
27
-
-
0031467887
-
Broadened Friedreich's phenotype after gene cloning. Minimal GAA expansion causes late onset spastic ataxia
-
Ragno M, De Michele G, Cavalcanti F et al (1997) Broadened Friedreich's phenotype after gene cloning. Minimal GAA expansion causes late onset spastic ataxia. Neurology 49:1617-1620
-
(1997)
Neurology
, vol.49
, pp. 1617-1620
-
-
Ragno, M.1
De Michele, G.2
Cavalcanti, F.3
-
28
-
-
0033707964
-
Accuracy of clinical diagnostic criteria for Friedreich's ataxia
-
Filla A, De Michele G, Coppola G et al (2000) Accuracy of clinical diagnostic criteria for Friedreich's ataxia. Mov Disord 15:1255-1258
-
(2000)
Mov Disord
, vol.15
, pp. 1255-1258
-
-
Filla, A.1
De Michele, G.2
Coppola, G.3
|