Copy number variations in <i>SPAST</i> and <i>ATL1</i> are rare among <scp>Brazilians</scp>-Reference-Cited by-同舟云学术

Copy number variations in SPAST and ATL1 are rare among Brazilians

Published:2023-01-15 Issue:5 Volume:103 Page:580-584
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Fussiger Helena¹,Pereira Bruna Letícia da Silva²^ORCID,Padilha Janice Pacheco Dias¹^ORCID,Donis Karina Carvalho³,Siebert Marina⁴,Brusius‐Facchin Ana Carolina³,Baldo Guilherme²,Saute Jonas Alex Morales¹³⁵^ORCID,

Affiliation:

1. Graduate Program in Medicine: Medical Sciences Universidade Federal do Rio Grande do Sul Porto Alegre Brazil

2. Graduate Program in Genetics and Molecular Biology Universidade Federal do Rio Grande do Sul Porto Alegre Brazil

3. Medical Genetics Service Hospital de Clínicas de Porto Alegre (HCPA) Porto Alegre Brazil

4. Laboratory Research Unit, Experimental Research Center Hospital de Clínicas de Porto Alegre (HCPA) Porto Alegre Brazil

5. Department of Internal Medicine Universidade Federal do Rio Grande do Sul Porto Alegre Brazil

Funder

Coordenação de Aperfeiçoamento de Pessoal de Nível Superior

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14280

Reference20 articles.

1. CLASSIFICATION OF THE HEREDITARY ATAXIAS AND PARAPLEGIAS

2. Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches

3. TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia

4. Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

5. Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach

Cited by 3 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. Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil;Clinical Genetics;2024-08-05

2. Whole exome sequencing in Serbian patients with hereditary spastic paraplegia;Neurogenetics;2024-03-19

3. Long-term progression of clinician-reported and gait performance outcomes in hereditary spastic paraplegias;Frontiers in Neuroscience;2023-09-22