Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice-Reference-Cited by-同舟云学术

Power of NGS-based tests in HSP diagnosis: analysis of massively parallel sequencing in clinical practice

Published:2023-05-03 Issue: Volume: Page:
ISSN:1364-6753
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Galatolo Daniele^ORCID,Trovato Rosanna^ORCID,Scarlatti Arianna,Rossi Salvatore^ORCID,Natale Gemma,De Michele Giovanna^ORCID,Barghigiani Melissa^ORCID,Cioffi Ettore^ORCID,Filla Alessandro^ORCID,Bilancieri Giusi,Casali Carlo,Santorelli Filippo M.^ORCID,Silvestri Gabriella^ORCID,Tessa Alessandra^ORCID

Funder

Ministero della Salute

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics (clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s10048-023-00717-9.pdf

Reference69 articles.

1. Harding A (1993) Hereditary spastic paraplegia. Semin Neurol 13:333–336. https://doi.org/10.1055/s-2008-1041143

2. Fink JK (2013) Hereditary spastic paraplegia: Clinico-pathologic features and emerging molecular mechanisms. Acta Neuropathol 126:307–328. https://doi.org/10.1007/s00401-013-1115-8

3. Ruano L, Melo C, Silva MC, Coutinho P (2014) The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies. Neuroepidemiology 42:174–183. https://doi.org/10.1159/000358801

4. Vander Stichele G, Durr A, Yoon G et al (2022) An integrated modelling methodology for estimating global incidence and prevalence of hereditary spastic paraplegia subtypes SPG4, SPG7, SPG11, and SPG15. BMC Neurol 22:115. https://doi.org/10.1186/s12883-022-02595-4

5. Parodi L, Fenu S, Stevanin G, Durr A (2017) Hereditary spastic paraplegia: more than an upper motor neuron disease. Rev Neurol (Paris) 173:352–360. https://doi.org/10.1016/j.neurol.2017.03.034

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias;Trends in Neurosciences;2024-03