Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays

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

Victoria Campuzano, Laura Montermini, María Dolores Moltó et al. · Science · 1996 · 2.8K citations

Life Sciences, Genetics, Molecular Genetics +17

The DNA Double-Strand Break Repair Gene hMRE11 Is Mutated in Individuals with an Ataxia-Telangiectasia-like Disorder

Grant S. Stewart, Richard S. Maser, Debra A. Bressan et al. · Cell · 1999 · 1.1K citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Ataxia with isolated vitamin E deficiency is caused by mutations in the α–tocopherol transfer protein

Karim Ouahchi, Makoto Arita, Herbert J. Kayden et al. · Nature Genetics · 1995 · 571 citations · Full text

Life Sciences, Genetics, Neurology +11

The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species

Kinneret Savitsky, Sharon Sfez, Danilo A. Tagle et al. · Human Molecular Genetics · 1995 · 534 citations

Life Sciences, Genetics, Molecular Genetics +14

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

Hiroshi Takashima, Cornelius F. Boerkoel, Joy John et al. · Nature Genetics · 2002 · 526 citations

Life Sciences, Genetics, Molecular Biology +15