Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family-Reference-Cited by-同舟云学术

Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family

Published:2016-02-25 Issue:4 Volume:263 Page:781-783
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Leonardi Luca,Ziccardi Lucia,Marcotulli Christian,Rubegni Anna,Longobardi Antonino,Serrao Mariano,Storti Eugenia,Pierelli Francesco,Tessa Alessandra,Parisi Vincenzo,Santorelli Filippo M.,Carlo Casali

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-016-8066-7.pdf

Reference5 articles.

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2. Tesson C, Nawara M, Salih MAM et al (2012) Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia. Am J Hum Genet 91(6):1051–1064

3. Citterio A, Arnoldi A, Panzeri E et al (2014) Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis. J Neurol 261(2):373–381

4. Schüle R, Holland-Letz T, Klimpe S et al (2006) The Spastic Paraplegia Rating Scale (SPRS): a reliable and valid measure of disease severity. Neurology 67(3):430–434

5. Ziccardi L, Sadun F, De Negri AM, Barboni P et al (2013) Retinal function and neural conduction along the visual pathways in affected and unaffected carriers with Leber’s hereditary optic neuropathy. Invest Ophthalmol Vis Sci 54(10):6893–6901

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