TY  - GEN
AU  - Canafoglia,Laura
AU  - Robbiano,Angela
AU  - Pareyson,Davide
AU  - Panzica,Ferruccio
AU  - Nanetti,Lorenzo
AU  - Giovagnoli,Anna Rita
AU  - Venerando,Anna
AU  - Gellera,Cinzia
AU  - Franceschetti,Silvana
AU  - Zara,Federico
TI  - Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus
SN  - 1526-632X
PY  - 2014///0811
KW  - Adult
KW  - Age of Onset
KW  - Diagnosis, Differential
KW  - Exome
KW  - genetics
KW  - Female
KW  - Genome-Wide Association Study
KW  - methods
KW  - Humans
KW  - Male
KW  - Mucolipidoses
KW  - diagnosis
KW  - Mutation
KW  - Myoclonus
KW  - Neuraminidase
KW  - Pedigree
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
UR  - https://doi.org/10.1212/WNL.0000000000000482
ER  -