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year={2011},
title={Respiratory onset in an ALS family with L144F SOD1 mutation},
journal={JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY},
volume={82},
number={7},
pages={747-749},
document_type={Article},
} 

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year={2008},
title={Relative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study},
journal={BRAIN},
volume={131},
number={},
pages={1217-1227},
document_type={Article},
}