The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome-Reference-Cited by-同舟云学术

The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome

Published:2023-04 Issue: Volume:141 Page:79-86
ISSN:0887-8994
Container-title:Pediatric Neurology
language:en
Short-container-title:Pediatric Neurology

Author:

Stafki Seth A.,Turner Johnnie,Littel Hannah R.,Bruels Christine C.,Truong Don^ORCID,Knirsch Ursula^ORCID,Stettner Georg M.^ORCID,Graf Urs,Berger Wolfgang,Kinali Maria^ORCID,Jungbluth Heinz,Pacak Christina A.^ORCID,Hughes Jayne,Mirchi Amytice,Derksen Alexa,Vincent-Delorme Catherine,Theil Arjan F.,Bernard Geneviève,Ellis David,Fassihi Hiva,Lehmann Alan R.,Laugel Vincent,Mohammed Shehla^ORCID,Kang Peter B.^ORCID

Publisher

Elsevier BV

Subject

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

Reference36 articles.

1. Cockayne syndrome: review of 140 cases;Nance;Am J Med Genet,1992

2. Diagnostic and severity scores for Cockayne syndrome;Spitz;Orphanet J Rare Dis,2021

3. Growth charts in Cockayne syndrome type 1 and type 2;Baer;Eur J Med Genet,2021

4. Peripheral neuropathies associated with DNA repair disorders;Maguina;Muscle Nerve,2023

5. The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care;Wilson;Genet Med,2016

Cited by 5 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. Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome;Neurology Clinical Practice;2024-08

2. Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms;Genes;2024-04-18

3. Defining the progeria phenome;Aging;2024-02-09

4. A Novel Heterozygous De Novo MORC2 Missense Variant Causes an Early Onset and Severe Neurodevelopmental Disorder;Case Reports in Genetics;2024-01-02

5. Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy;Neurology Genetics;2023-08