AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients-Reference-Cited by-同舟云学术

AFG3L2 Biallelic Mutation: Clinical Heterogeneity in Two Italian Patients

Published:2022-11-30 Issue: Volume: Page:
ISSN:1473-4230
Container-title:The Cerebellum
language:en
Short-container-title:Cerebellum

Author:

Colucci Fabiana^ORCID,Neri Marcella,Fortunato Fernanda,Ferlini Alessandra,Carrozzo Rosalba,Torraco Alessandra,Lamantea Eleonora,Legati Andrea,Tecilla Ginevra,Pugliatti Maura,Sensi Mariachiara

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

https://link.springer.com/content/pdf/10.1007/s12311-022-01497-y.pdf

Reference15 articles.

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5. Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin For The Nisc Comparative Sequencing Program JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C. Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases. PLoS Genet. 2011;7(10):e1002325. https://doi.org/10.1371/journal.pgen.1002325.