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Acta Neurologica Scandinavica

Volumn 102, Issue 4, 2000, Pages 227-229

Molecular analysis of Friedreich's ataxia locus in the Indian population

(6) Mukerji, M a Choudhry, S a Saleem, Q b Padma, M V c Maheshwari, M C c Jain, S c

a CSIR INSTITUTE OF GENOMICS AND INTEGRATIVE BIOLOGY (India)

b INDIAN INSTITUTE OF SCIENCE (India)

c ALL INDIA INSTITUTE OF MEDICAL SCIENCES (India)

Author keywords

Friedreich's ataxia; GAA repeats; Indian population; Repeat expansion

Indexed keywords

ADOLESCENT; ALLELE; ARTICLE; CASE REPORT; CLINICAL FEATURE; DYSARTHRIA; FRIEDREICH ATAXIA; GENE FREQUENCY; GENE LOCUS; HOMOZYGOSITY; HUMAN; INDIAN; MALE; TREMOR; TRINUCLEOTIDE REPEAT;

ADULT; ALLELES; DNA PRIMERS; FRIEDREICH ATAXIA; GENE EXPRESSION; HUMANS; INDIA; MALE; PREVALENCE; TRINUCLEOTIDE REPEATS;

EID: 0033797860 PISSN: 00016314 EISSN: None Source Type: Journal
DOI: 10.1034/j.1600-0404.2000.102004227.x Document Type: Article

Times cited : (13)

References (13)

1
- 0019782799
- Friedreich's ataxia: A clinical and genetic study of 90 families with an analysis of early diagnosis criteria and intrafamilial clustering of clinical features
- (1981) Brain , vol.104 , pp. 589-620
- Harding, A.E.¹

2
- 13344270899
- Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
- (1996) Science , vol.271 , pp. 1423-1427
- Campuzano, V.¹ Montermini, L.² Molto, M.D.³

3
- 0029821176
- Clinical and genetic abnormalities in patients with Friedreich's ataxia
- (1996) N Engl J Med , vol.335 , pp. 1169-1175
- Durr, A.¹ Cossee, M.² Agid, Y.³

4
- 0029757676
- The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia
- (1996) Am J Hum Genet , vol.59 , pp. 554-560
- Filla, A.¹ De Michele, G.² Cavalcanti, F.³

5
- 0031009267
- Differential stability of the (GAA)n tract in the Friedreich ataxia (STM7) gene
- (1997) Hum Genet , vol.99 , pp. 834-836
- Epplen, C.¹ Epplen, J.T.² Frank, G.³

6
- 0030739437
- Evolution of the Friedreich's ataxia trinucleotide repeat expansion: Founder effect and premutations
- (1997) Proc Natl Acad Sci USA , vol.94 , pp. 7452-7457
- Cossee, M.¹ Schmitt, M.² Campuzano, V.³

7
- 0030895266
- A typical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion
- (1997) Am J Hum Genet , vol.60 , pp. 1251-1256
- Bidichandani, S.I.¹ Ashizawa, T.² Patel, P.I.³

8
- 0024284028
- A simple salting out procedure for extracting DNA from human nucleated cells
- (1988) Nucleic Acids Res , vol.16 , pp. 1215
- Miller, S.A.¹ Dykes, D.D.² Polesky, H.F.³

9
- 0028564730
- DNA haplotype analysis of Huntington disease reveals clues to the origins and mechanisms of CAG expansion and reasons for geographic variations of prevalence
- (1994) Hum Mol Genet , vol.3 , pp. 2103-2114
- Squitieri, F.¹ Andrew, S.E.² Goldberg, Y.P.³

10
- 0028986598
- Haplotype analysis of the delta 2642 and (CAG)n polymorphisms in the Huntington's disease (HD) gene provides an explanation for an apparent 'founder' HD haplotype
- (1995) Hum Mol Genet , vol.4 , pp. 203-206
- Rubinsztein, D.C.¹ Leggo, J.² Goodburn, S.³

11
- 9044236911
- A unique origin and multistep process for the generation of expanded DRPLA triplet repeats
- (1996) Hum Mol Genet , vol.5 , pp. 373-379
- Yanagisawa, H.¹ Fujii, K.² Nagafuchi, S.³

12
- 0007848393
- Origin of the expansion mutation in myotonic dystrophy
- (1993) Nat Genet , vol.54 , pp. 575-585
- Imbert, G.¹ Kretz, C.² Johnsen, K.³

13
- 0027958086
- Absence of myotonic dystrophy in southern African Negroids is associated with a significantly lower number of CTG trinucleotide repeats
- (1994) J Med Genet , vol.31 , pp. 37-40
- Goldman, A.¹ Ramsay, M.² Jenkins, T.³

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.