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year={2017},
title={Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy},
journal={NEUROLOGY},
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number={6},
pages={533-542},
document_type={Article},
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year={2010},
title={Mutations in SACS cause atypical and late-onset forms of ARSACS},
journal={NEUROLOGY},
volume={75},
number={13},
pages={1181-1188},
document_type={Article},
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@ARTICLE{
author={Dierick Ines,Baets Jonathan,Irobi Joy,Jacobs An,De Vriendt Els,Deconinck Tine,Merlini Luciano,Van den Bergh Peter,Milic-Rasic Vedrana M,Robberecht Wim,Fischer Dirk,Morales Raul Juntas,Mitrovic Zoran,Seeman Pavel,Mazanec Radim,Kochanski Andrzej,Jordanova Albena,Auer-Grumbach Michaela,Helderman-van den Enden ATJM,Wokke John HJ,Nelis Eva,De Jonghe Peter,Timmerman Vincent},
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},
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@ARTICLE{
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year={2006},
title={MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2},
journal={BRAIN},
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document_type={Article},
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year={2000},
title={Characterization of a novel 21-kb deletion, CFTRdele2,3(21 kb), in the CFTR gene: a cystic fibrosis mutation of Slavic origin common in Central and East Europe},
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volume={106},
number={3},
pages={259-268},
document_type={Article},
}