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Acknowledgements
This work was supported financially by the VERUM foundation, the Programme Hospitalier de Recherche Clinique, and the GIS-Rare Diseases Institute. SK was supported by the German Academic Exchange Service (Germany), the TWS foundation (Germany), and the VERUM foundation (Germany). The technical assistance of the DNA and cell bank of the Federative Institute for Neuroscience is gratefully acknowledged, and the authors wish to thank Drs. Merle Ruberg and Valérie Hahn-Barma for critical review of the manuscript. Many thanks to Pr. FM Santorelli (Rome) for providing us with primers and conditions for exon 1 and Elodie Denis for technical assistance.
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Supplementary Table 1
SPG6 families with mutations in the NIPA1 gene on chromosome 15 reported in the literature and in the present body (DOC 28 kb)
Supplementary Fig. 1
Pedigree of family FSP-747 carrying the G106R missense mutation in the NIPA1 gene. The pedigree has been modified for confidentiality (diamonds). Asterisks indicate sampled individuals. Black circles Affected women, black squares affected men, diamonds non-affected family members, arrow index case, ao age of onset. Wild-type (+) and mutated (M) allelic forms of NIPA1 at amino acid 106 (PPT 44 kb)
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Klebe, S., Lacour, A., Durr, A. et al. NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe. Neurogenetics 8, 155–157 (2007). https://doi.org/10.1007/s10048-006-0074-9
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DOI: https://doi.org/10.1007/s10048-006-0074-9