Elevated Leukodystrophy Incidence Predicted From Genomics Databases-Reference-Cited by-同舟云学术

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Elevated Leukodystrophy Incidence Predicted From Genomics Databases

Published:2020-10 Issue: Volume:111 Page:66-69
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

Soderholm Haille E.,Chapin Alexander B.,Bayrak-Toydemir Pinar,Bonkowsky Joshua L.

Funder

NIH

Bray Presidential Chair In Child Neurology Research

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health

Reference12 articles.

1. The burden of inherited leukodystrophies in children;Bonkowsky;Neurology,2010

2. Case definition and classification of leukodystrophies and leukoencephalopathies;Vanderver;Mol Genet Metab,2015

3. Analysis of protein-coding genetic variation in 60,706 humans;Lek;Nature,2016

4. Human gene mutation database (HGMD): 2003 update;Stenson;Hum Mutat,2003

5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet Med,2015

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1. Towards a Treatment for Leukodystrophy Using Cell-Based Interception and Precision Medicine;Biomolecules;2024-07-17

2. Démarche diagnostique devant une leucodystrophie métabolique de l’adulte;Pratique Neurologique - FMC;2024-03

3. Krabbe Disease–To Add or Not to Newborn Screening?;OBM Genetics;2024-01-12

4. Novel Pathogenic Variants in POLR3K Cause POLR3‐Related Leukodystrophy;Human Mutation;2024-01

5. Biallelic pathogenic variants in POLR3D alter tRNA transcription and cause a hypomyelinating leukodystrophy: A case report;Frontiers in Neurology;2023-10-13

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