The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes-Reference-Cited by-同舟云学术

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes

Published:2018-04-24 Issue:2 Volume:19 Page:111-121
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Travaglini Lorena,Aiello Chiara,Stregapede Fabrizia,D’Amico Adele,Alesi Viola,Ciolfi Andrea,Bruselles Alessandro,Catteruccia Michela,Pizzi Simone,Zanni Ginevra,Loddo Sara,Barresi Sabina,Vasco Gessica,Tartaglia Marco,Bertini Enrico,Nicita Francesco

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics(clinical),Genetics

Link

http://link.springer.com/article/10.1007/s10048-018-0545-9/fulltext.html

Reference34 articles.

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3. Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, Chelban V, Manole A, Hamed SA, Haridy NA, Federoff M, Preza E, Hughes D, Pittman A, Jaunmuktane Z, Brandner S, Xiromerisiou G, Wiethoff S, Schottlaender L, Proukakis C, Morris H, Warner T, Bhatia KP, Korlipara LV, Singleton AB, Hardy J, Wood NW, Lewis PA, Houlden H (2016) Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain 139:1904–1918

4. Povysil G, Tzika A, Vogt J, Haunschmid V, Messiaen L, Zschocke J, Klambauer G, Hochreiter S, Wimmer K (2017) Panelcn.MOPS: copy-number detection in targeted NGS panel data for clinical diagnostics. Hum Mutat 38:889–897

5. Travaglini L, Bellacchio E, Aiello C, Pro S, Bertini E, Nicita F (2017) Expanding the clinical phenotype of CAPN1-associated mutations: a new case with congenital-onset pure spastic paraplegia. J Neurol Sci 378:210–212

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