Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

Basic local alignment search tool

1990 • 87,358 citations

Rapid and sensitive detection of point mutations and DNA polymorphisms using the polymerase chain reaction

1989 • 3,557 citations

A Single Ataxia Telangiectasia Gene with a Product Similar to PI-3 Kinase

1995 • 2,767 citations

Identification of a Chromosome 18q Gene that Is Altered in Colorectal Cancers

1990 • 1,747 citations

CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1

1994 • 1,698 citations

FRIEDREICH'S ATAXIA: A CLINICAL AND GENETIC STUDY OF 90 FAMILIES WITH AN ANALYSIS OF EARLY DIAGNOSTIC CRITERIA AND INTRAFAMILIAL CLUSTERING OF CLINICAL FEATURES

1981 • 903 citations

Expert system for predicting protein localization sites in gram‐negative bacteria

1991 • 739 citations

Locating protein-coding regions in human DNA sequences by a multiple sensor-neural network approach.

1991 • 665 citations

Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias

1995 • 646 citations

Trinucleotide repeats that expand in human disease form hairpin structures in vitro

1995 • 559 citations

Clinical Description and Roentgenologic Evaluation of Patients with Friedreich's Ataxia

1976 • 376 citations

Identification and characterization of the gene causing type 1 spinocerebellar ataxia

1994 • 369 citations

Predicting internal exons by oligonucleotide composition and discriminant analysis of spliceable open reading frames

1994 • 348 citations

Mapping of mutation causing Friedreich's ataxia to human chromosome 9

1988 • 307 citations

Isolation of genes from complex sources of mammalian genomic DNA using exon amplification

1994 • 276 citations

Hairpins are formed by the single DNA strands of the fragile X triplet repeats: structure and biological implications.

1995 • 220 citations

Origin of the expansion mutation in myotonic dystrophy

1993 • 213 citations

Idiopathic cerebellar ataxia of late onset: natural history and MRI morphology.

1990 • 179 citations

Ueber degenerative Atrophie der spinalen Hinterstränge

1863 • 169 citations

THE PERIPHERAL SENSORY PATHWAY IN FRIEDREICH'S ATAXIA

1968 • 144 citations

Reduction in Size of the Myotonic Dystrophy Trinucleotide Repeat Mutation During Transmission

1993 • 118 citations

Unstable DNA may be responsible for the incomplete penetrance of the myotonic dystrophy phenotype

1992 • 118 citations

Study of Fatal Cases of Friedreich's Ataxia

1968 • 117 citations

Trinucleotide repeat expansions and human genetic disease

1994 • 116 citations

The Heart Disease of Friedreich's Ataxia: a Clinical and Electrocardiographic Study of 115 Patients, with an Analysis of Serial Electrocardiographic Changes in 30 Cases

1983 • 107 citations

Ataxia-Telangiectasia: A Multisystem Hereditary Disease with Immunodeficiency, Impaired Organ Maturation, X-Ray Hypersensitivity, and a High Incidence of Neoplasia

1983 • 103 citations

Glucose metabolism alterations in Friedreich's ataxia

1988 • 100 citations

The neuropathology of “typical” Friedreich's ataxia in Quebec

1984 • 79 citations

Incidence of Friedreich ataxia in Italy estimated from consanguineous marriages.

1983 • 79 citations

Confirmation of linkage of Friedreich ataxia to chromosome 9 and identification of a new closely linked marker

1989 • 74 citations

Predicting α-helix and β-strand segments of globular proteins

1994 • 62 citations

Hypotrophic and dying‐back nerve fibers in Friedreich's ataxia

1986 • 58 citations

The Friedreich ataxia gene is assigned to chromosome 9q13-q21 by mapping of tightly linked markers and shows linkage disequilibrium with D9S15.

1990 • 54 citations

Trinucleotide diseases on the rise

1994 • 54 citations

The Friedreich ataxia region: characterization of two novel genes and reduction of the critical region to 300 kb

1994 • 46 citations

Complete mutation detection using unlabeled chemical cleavage

1992 • 43 citations

Friedreich's ataxia in Western Norway

1975 • 41 citations

The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13.

1995 • 39 citations

The heart in Friedreich's ataxia.

1983 • 37 citations

The sensory neuropathy of Friedreich's ataxia: an autopsy study of a case with prolonged survival

1993 • 36 citations

Discordant expression and variable numbers of neighboring GGA- and GAA-rich triplet repeats in the 3' untranslated regions of two groups of messenger RNAs encoded by the rat polymeric immunoglobulin receptor gene

1995 • 32 citations

Friedreich's ataxia: a defect in signal transduction?

1995 • 25 citations

The Friedreich ataxia critical region spans a 150-kb interval on chromosome 9q13

1995 • 20 citations

Isolation of a New Gene in the Friedreich Ataxia Candidate Region on Human Chromosome 9 by cDNA Direct Selection

1994 • 7 citations