Associated Papers
ECEL1 related distal arthrogryposis 5D in an Indian cohort-Report of recognizable musculoskeletal phenotype and a possible founder variant.
Endrakanti M et al.
American Journal of Medical Genetics. Part A, 2024
A novel compound heterozygous variant of ECEL1 induced joint dysfunction and cartilage degradation: a case report and literature review.
Jing S et al.
Frontiers in Neurology, 2024
ECEL1 novel mutation in arthrogryposis type 5D: A molecular dynamic simulation study.
Ahangari N et al.
Molecular Genetics & Genomic Medicine, 2023
Expanding the Phenotypic Spectrum of ECEL1-Associated Distal Arthrogryposis.
Huddar A et al.
Children (basel, Switzerland), 2021
Axonal Growth Abnormalities Underlying Ocular Cranial Nerve Disorders.
Whitman MC
Annual Review of Vision Science, 2021
A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D.
Alesi V et al.
International Journal of Molecular Sciences, 2021
The Novel Compound Heterozygous Mutations of ECEL1 Identified in a Family with Distal Arthrogryposis Type 5D.
Jin JY et al.
Biomed Research International, 2020
Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders.
Nagata K et al.
Acta Neuropathologica Communications, 2017
ECEL1 mutation implicates impaired axonal arborization of motor nerves in the pathogenesis of distal arthrogryposis.
Nagata K et al.
Acta Neuropathologica, 2016
ECEL1 mutation causes fetal arthrogryposis multiplex congenita.
Dohrn N et al.
American Journal of Medical Genetics. Part A, 2015
The ECEL1-related strabismus phenotype is consistent with congenital cranial dysinnervation disorder.
Khan AO et al.
Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2014
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
Dieterich K et al.
Human Molecular Genetics, 2013
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