Alzira Alves de Siqueira Carvalho

Novel variants in POLH and TREM2 genes associated with a complex phenotype of xeroderma pigmentosum variant type and early‐onset dementia

D. Christofolini, D. Feder, Lis Gomes Silva, 2020, Molecular genetics & genomic medicine.

Guillain-Barre syndrome related to COVID-19: muscle and nerve biopsy findings

Alzira Alves de Siqueira Carvalho, Dandara Costa Lima de Souza, Rafael Basílio Guimarães, 2021, Journal of Human Growth and Development.

Clinicogenetic lessons from 370 patients with autosomal recessive limb‐girdle muscular dystrophy

E. Zanoteli, U. Reed, M. Chaves, 2019, Clinical genetics.

MR imaging of inherited myopathies: a review and proposal of imaging algorithms

T. Link, A. Oliveira, Wladimir Bocca Vieira de Rezende Pinto, 2021, European Radiology.

Newborn screening for spinal muscular atrophy - what have we learned?

Alzira Alves de Siqueira Carvalho, Laurent Servais, Cyril Tychon, 2023, Expert review of neurotherapeutics.