ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects-Reference-Cited by-同舟云学术

ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects

Published:2018-09 Issue:9 Volume:28 Page:741-749
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Ullmann Urielle,D'Argenzio Luigi^ORCID,Mathur Shrey,Whyte Tamieka,Quinlivan Ros,Longman Cheryl,Farrugia Maria Elena,Manzur Adnan,Willis Tracey^ORCID,Jungbluth Heinz,Pitt Matthew,Cirak Sebahattin,Feng Lucy,Stewart William^ORCID,Mein Rachael,Phadke Rahul,Sewry Caroline,Sarkozy Anna,Muntoni Francesco

Publisher

Elsevier BV

Subject

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

Reference24 articles.

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2. Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth;Todd;Orphanet J Rare Dis,2015

3. Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects;Haliloglu;J Hum Genet,2017

4. Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction;Jungbluth;Nat Rev Neurol,2018

5. The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis;Dieterich;Hum Mol Genet,2013

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1. A novel compound heterozygous variant of ECEL1 induced joint dysfunction and cartilage degradation: a case report and literature review;Frontiers in Neurology;2024-01-24

2. Long term ophthalmic complications of distal arthrogryposis type 5D;Ophthalmic Genetics;2022-12-02

3. Congenital Fibrosis of the Extraocular Muscles: An Overview from Genetics to Management;Children;2022-10-22

4. Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder;Human Mutation;2022-02-03

5. A Novel ECEL1 Variant Associated with a Congenital Contracture Disorder;Pakistan Journal of Zoology;2022