New insights into the molecular basis of spinal neurofibromatosis type 1-Reference-Cited by-同舟云学术

New insights into the molecular basis of spinal neurofibromatosis type 1

Published:2023-05-22 Issue:8 Volume:31 Page:931-938
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Bettinaglio Paola,Mangano Eleonora,Tritto Viviana^ORCID,Bordoni Roberta,Paterra Rosina,Borghi Arianna^ORCID,Volontè Marinella,Battaglia Cristina,Saletti Veronica,Cesaretti Claudia,Natacci Federica,Melone Mariarosa A. B.^ORCID,Eoli Marica,Riva Paola^ORCID

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s41431-023-01377-x.pdf

Reference26 articles.

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2. Ruggieri M, Polizzi A, Spalice A, Salpietro V, Caltabiano R, D’Orazi V, et al. The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features. Clin Genet. 2015;87:401–10.

3. Nguyen R, Dombi E, Akshintala S, Baldwin A, Widemann BC. Characterization of spinal findings in children and adults with neurofibromatosis type 1 enrolled in a natural history study using magnetic resonance imaging. J Neurooncol. 2015;121:209–15.

4. Sharif S, Upadhyaya M, Ferner R, Majounie E, Shenton A, Baser M, et al. A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations. J Med Genet. 2011;48:256–60.

5. Bergoug M, Doudeau M, Godin F, Mosrin C, Vallée B, Bénédetti H. Neurofibromin structure, functions and regulation. Cells. 2020;9:2365.

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