Infantile neuroaxonal dystrophy in a pair of Malaysian siblings with progressive cerebellar atrophy: Description of an expanded phenotype with novel PLA2G6 variants-Reference-Cited by-同舟云学术

Infantile neuroaxonal dystrophy in a pair of Malaysian siblings with progressive cerebellar atrophy: Description of an expanded phenotype with novel PLA2G6 variants

Published:2020-01 Issue: Volume:71 Page:289-292
ISSN:0967-5868
Container-title:Journal of Clinical Neuroscience
language:en
Short-container-title:Journal of Clinical Neuroscience

Author:

Li Limin,Fong Choong Yi,Tay Chee Geap,Tae Sok Kun,Suzuki Hisato,Kosaki Kenjiro,Thong Meow-Keong

Publisher

Elsevier BV

Subject

Physiology (medical),Neurology (clinical),Neurology,General Medicine,Surgery

Reference10 articles.

1. Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: a case report;Frattini;Brain Dev,2015

2. Cerebellar atrophy without cerebellar cortex hyperintensity in infantile neuroaxonal dystrophy (INAD) due to PLA2G6 mutation;Biancheri;J Eur Paediatric Neurol Soc,2007

3. Diagnostic approach to childhood-onset cerebellar atrophy: a 10-year retrospective study of 300 patients;Al-Maawali;J Child Neurol,2012

4. Novel PLA2G6 mutations associated with an exonic deletion due to non-allelic homologous recombination in a patient with infantile neuroaxonal dystrophy;Yamamoto;Human Genome Var,2015

5. Genetic analysis of PLA2G6 in 22 Indian families with infantile neuroaxonal dystrophy, atypical late-onset neuroaxonal dystrophy and dystonia parkinsonism complex;Kapoor;PLoS ONE,2016

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1. Novel insertion mutation in the PLA2G6 gene in an Iranian family with infantile neuroaxonal dystrophy;Journal of Clinical Laboratory Analysis;2022-01-29