Brown–Vialetto–van Laere and Fazio–Londe overlap syndromes: A clinical, biochemical and genetic study-Reference-Cited by-同舟云学术

Brown–Vialetto–van Laere and Fazio–Londe overlap syndromes: A clinical, biochemical and genetic study

Published:2012-12 Issue:12 Volume:22 Page:1075-1082
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Ciccolella Marianna,Catteruccia Michela,Benedetti Sabina,Moroni Isabella,Uziel Graziella,Pantaleoni Chiara,Chiapparini Luisa,Bizzi Alberto,D’Amico Adele,Fattori Fabiana,Salsano Maria Letizia,Pastore Anna,Tozzi Giulia,Piemonte Fiorella,Bertini Enrico

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference23 articles.

1. Brown-Vialetto-Van Laere syndrome;Sathasivam;Orphanet J Rare Dis,2008

2. Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance?;Mégarbane´;Am J Med Genet,2000

3. Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease;Dipti;Brain Dev,2005

4. Progressive bulbar paralysis of childhood. A reappraisal ofFazio-Londedisease;McShane;Brain,1992

5. Progressive bulbar paralysis in childhood (Fazio-Londe disease);Gomez;Arch Neurol (Chic),1962

Cited by 37 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. Neonatal high-dose riboflavin treatment channels energy expenditure towards sensorimotor and somatic development and reduces rodent growth and weight gain by modulating NRF-1 in the hypothalamus;Physiology & Behavior;2024-12

2. Long‐term outcomes in children with riboflavin transporter deficiency and surveillance recommendations;Developmental Medicine & Child Neurology;2024-09-09

3. Modeling riboflavin transporter deficiency type 2: from iPSC-derived motoneurons to iPSC-derived astrocytes;Frontiers in Cellular Neuroscience;2024-07-24

4. Case Report: A rare treatable metabolic syndrome (Brown-Vialetto-Van Laere syndrome) masquerading as chronic inflammatory demyelinating polyneuropathy from Saudi Arabia;Frontiers in Pediatrics;2024-04-30

5. A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene;Molecular Genetics and Metabolism Reports;2024-03