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The family of genes implicated in hereditary spastic paraplegias (HSPs) is quickly expanding, mostly owing to the widespread availability of next-generation DNA sequencing methods. Nevertheless, a genetic diagnosis remains unavailable for many patients.

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia / Rinaldi, C., Schmidt, T., Situ, A.J., Johnson, J.O., Lee, P.R., Chen, K.L., Bott, L.C., Fadó, R., Harmison, G.H., Parodi, S., Grunseich, C., Renvoisé, B., Biesecker, L.G., DE MICHELE, G., Santorelli, F.M., Filla, A., Stevanin, G., Dürr, A., Brice, A., Casals, N., et al.. - In: JAMA NEUROLOGY. - ISSN 2168-6149. - 72:5(2015), p. 561-70. [10.1001/jamaneurol.2014.4769]

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia

DE MICHELE, GIUSEPPE;FILLA, ALESSANDRO;
2015

Abstract

The family of genes implicated in hereditary spastic paraplegias (HSPs) is quickly expanding, mostly owing to the widespread availability of next-generation DNA sequencing methods. Nevertheless, a genetic diagnosis remains unavailable for many patients.
2015
JAMA NEUROLOGY
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia / Rinaldi, C., Schmidt, T., Situ, A.J., Johnson, J.O., Lee, P.R., Chen, K.L., Bott, L.C., Fadó, R., Harmison, G.H., Parodi, S., Grunseich, C., Renvoisé, B., Biesecker, L.G., DE MICHELE, G., Santorelli, F.M., Filla, A., Stevanin, G., Dürr, A., Brice, A., Casals, N., et al.. - In: JAMA NEUROLOGY. - ISSN 2168-6149. - 72:5(2015), p. 561-70. [10.1001/jamaneurol.2014.4769]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11588/614040
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