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6 articles related to "Infantile Neuroaxonal Dystrophy"

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Articles

Hypothesis and Theory

Published on 10 Dec 2018

Infantile Neuroaxonal Dystrophy: Diagnosis and Possible Treatments

in Genetics of Common and Rare Diseases

Patricia L. Babin
Sudheendra N. R. Rao
Anita Chacko
Fidelia B. Alvina
Anil Panwala
Leena Panwala
Danielle C. Fumagalli

Frontiers in Genetics

doi 10.3389/fgene.2018.00597

76,649 views
19 citations

Original Research

Published on 06 Jul 2022

Identification of a Novel Nonsense Mutation in PLA2G6 and Prenatal Diagnosis in a Chinese Family With Infantile Neuroaxonal Dystrophy

in Neurogenetics

Yongyi Zou
Haiyan Luo
Huizhen Yuan
Kang Xie
Yan Yang
Shuhui Huang
Bicheng Yang
Yanqiu Liu

Frontiers in Neurology

doi 10.3389/fneur.2022.904027

3,995 views
8 citations

Original Research

Published on 08 Jun 2021

New Insights of Phospholipase A2 Associated Neurodegeneration Phenotype Based on the Long-Term Follow-Up of a Large Hungarian Family

in Neurogenomics

Renata Toth-Bencsik
Peter Balicza
Edina Timea Varga
Andras Lengyel
Gabor Rudas
Aniko Gal
Maria Judit Molnar

Frontiers in Genetics

doi 10.3389/fgene.2021.628904

3,776 views
6 citations

Review

Published on 20 May 2014

The sodium leak channel, NALCN, in health and disease

in Cellular Neurophysiology

Maud Cochet-Bissuel
Philippe Lory
Arnaud Monteil

Frontiers in Cellular Neuroscience

doi 10.3389/fncel.2014.00132

42,201 views
161 citations

Original Research

Published on 13 Jul 2022

Novel PLA2G6 Pathogenic Variants in Chinese Patients With PLA2G6-Associated Neurodegeneration

in Neurogenetics

Yalan Wan
Yanyan Jiang
Zhiying Xie
Chen Ling
Kang Du
Ran Li
Yun Yuan
Zhaoxia Wang
Wei Sun
Haiqiang Jin

Frontiers in Neurology

doi 10.3389/fneur.2022.922528

4,018 views
8 citations

Review

Published on 15 Apr 2021

Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders

in Movement Disorders

Vassilena Iankova
Ivan Karin
Thomas Klopstock
Susanne A. Schneider

Frontiers in Neurology

doi 10.3389/fneur.2021.629414

22,972 views
67 citations