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Duncan P. McHale

St James's University Hospital

10

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Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

2001 Nature
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Mutation in ferritin light chain causes dominant adult onset neurodegeneration

2001 Nature Genetics
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Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease

2001 Nature Genetics
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A gene for ataxic cerebral palsy maps to chromosome 9p12–q12

2000 European Journal of Human Genetics
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The Mapping of 3 Genetic Loci Involved in the Aetiology of Cerebral Palsy

1999 Clinical Science
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A gene for autosomal recessive symmetrical spastic cerebral palsy maps to chromosome 2q24-25.

1999 American Journal of Human Genetics
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Primary Autosomal Recessive Microcephaly (MCPH1) Maps to Chromosome 8p22-pter

1998 American Journal of Human Genetics
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Autozygosity Mapping, to Chromosome 11q25, of a Rare Autosomal Recessive Syndrome Causing Histiocytosis, Joint Contractures, and Sensorineural Deafness

1998 American Journal of Human Genetics
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Citations (25)