@article{mallaret:hal-01405178, TITLE = {{Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases}}, AUTHOR = {Mallaret, Martial and Renaud, Mathilde and Redin, Claire and Drouot, Nathalie and Muller, Jean and Severac, Francois and Hamza, Wahiba and Benhassine, Traki and Tazir, Meriem and Durr, Alexandra and Monin, Marie-Lorraine and Mignot, Cyril and Charles, Perrine and van Maldergem, Lionel and Chamard, Ludivine and Thauvin-Robinet, Christel and Laugel, Vincent and Burglen, Lydie and Calvas, Patrick and Fleury, Marie-C{\'e}line and Anheim, Mathieu and Koenig, Michel}, URL = {https://u-bourgogne.hal.science/hal-01405178}, JOURNAL = {{Journal of Neurology}}, PUBLISHER = {{Springer Verlag}}, VOLUME = {263}, NUMBER = {7}, PAGES = {1314 - 1322}, YEAR = {2016}, MONTH = Jul, DOI = {10.1007/s00415-016-8112-5}, KEYWORDS = {Recessive ataxia ; Next generation sequencing ; Neurogenetics ; Electromyography ; phenotypic variability ; mutations ; adck3 ; cabc1/adck3 ; deficiency ; atrophy ; cohort ; gene ; form}, HAL_ID = {hal-01405178}, HAL_VERSION = {v1}, }