Mutations in senataxin responsible for Quebec cluster of ataxia with neuropathy

Molecular cloning: A laboratory manual

1990 • 85,659 citations

CLASSIFICATION OF THE HEREDITARY ATAXIAS AND PARAPLEGIAS

1983 • 918 citations

DNA/RNA Helicase Gene Mutations in a Form of Juvenile Amyotrophic Lateral Sclerosis (ALS4)

2004 • 787 citations

Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy

1998 • 764 citations

Mutation of TDP1, encoding a topoisomerase I–dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

2002 • 511 citations

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2

2004 • 500 citations

ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF

2000 • 412 citations

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene

2001 • 378 citations

“TENNIS THUMB”

1951 • 345 citations

The K–Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum

2002 • 268 citations

Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients

2004 • 204 citations

Linkage of the Gene for an Autosomal Dominant Form of Juvenile Amyotrophic Lateral Sclerosis to Chromosome 9q34

1998 • 188 citations

The Inherited Basis of Human Radiosensitivity

2001 • 170 citations

Homozygosity Mapping in Families with Joubert Syndrome Identifies a Locus on Chromosome 9q34.3 and Evidence for Genetic Heterogeneity

1999 • 141 citations

Ataxia—ocular motor aprilaxia: A syndrome mimicking ataxia‐telangiectasia

1988 • 135 citations

Autosomal dominant juvenile amyotrophic lateral sclerosis

1999 • 113 citations

The yeast SEN1 gene is required for the processing of diverse RNA classes

1997 • 111 citations

Recessive Ataxia With Ocular Apraxia

2001 • 107 citations

Mutations affecting the tRNA-splicing endonuclease activity of Saccharomyces cerevisiae.

1988 • 95 citations

Early-onset ataxia with ocular motor apraxia and hypoalbuminemia

2002 • 89 citations

Autosomal Recessive Cerebellar Ataxia with Oculomotor Apraxia (Ataxia-Telangiectasia–Like Syndrome) Is Linked to Chromosome 9q34

2000 • 86 citations

Homozygosity mapping of spinocerebellar ataxia with cerebellar atrophy and peripheral neuropathy to 9q33–34, and with hearing impairment and optic atrophy to 6p21–23

2000 • 74 citations

The Putative Nucleic Acid Helicase Sen1p Is Required for Formation and Stability of Termini and for Maximal Rates of Synthesis and Levels of Accumulation of Small Nucleolar RNAs in Saccharomyces cerevisiae

1998 • 73 citations

Familial spinocerebellar ataxia with cerebellar atrophy, peripheral neuropathy, and elevated level of serum creatine kinase, γ‐globulin, and α‐fetoprotein

1998 • 55 citations

Typical Friedreich's ataxia without GAA expansions and GAA expansions without typical Friedreich's ataxia

2000 • 45 citations

Inactivation of the yeast Sen1 protein affects the localization of nucleolar proteins

1995 • 43 citations

A new autosomal recessive non-progressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities (CAMOS) maps to chromosome 15q24-q26 in a large consanguineous Lebanese Druze family

2002 • 39 citations

Dynamic allele-specific oligonucleotide hybridization on solid support

2003 • 35 citations

Autosomal recessive spinocerebellar ataxia and peripheral neuropathy with raised ?-fetoprotein

2004 • 20 citations

An early-onset recessive cerebellar disorder with distal amyotrophy and, in two patients, gross myclonia: a probable ataxia telangiectasia variant

1995 • 16 citations

Study of a Family with Progressive Ataxia, Tremor and Severe Distal Amyotrophy

1980 • 8 citations