Distal motor neuropathy associated with novel EMILIN1 mutation-Reference-Cited by-同舟云学术

Distal motor neuropathy associated with novel EMILIN1 mutation

Published:2020-04 Issue: Volume:137 Page:104757
ISSN:0969-9961
Container-title:Neurobiology of Disease
language:en
Short-container-title:Neurobiology of Disease

Author:

Iacomino Michele,Doliana Roberto,Marchese Maria,Capuano Alessandra,Striano Pasquale,Spessotto Paola,Bosisio Giulia,Iodice Rosa,Manganelli Fiore^ORCID,Lanteri Paola,Orsini Alessandro,Baldassari Simona,Baratto Serena,Fruscione Floriana,Prada Valeria,Broda Paolo,Tessa Alessandra,Bertocci Giulia,Schenone Angelo,Colombatti Alfonso,Minetti Carlo,Santorelli Filippo Maria,Zara Federico,Fiorillo Chiara

Funder

Ministry of Health

Italian Ministry of Health

Publisher

Elsevier BV

Subject

Neurology

Reference18 articles.

1. Genetic heterogeneity of motor neuropathies;Bansagi;Neurology.,2017

2. Diagnostic exome sequencing identifies a novel gene, EMILIN1, associated with autosomal-dominant hereditary connective tissue disease;Capuano;Hum. Mutat.,2016

3. The EMILIN protein family;Colombatti;Matrix Biol.,2000

4. EMILIN1/α9β1 integrin interaction is crucial in lymphatic valve formation and maintenance;Danussi;Mol. Cell. Biol.,2013

5. Prediction of structurally-determined coiled-coil domains with hidden Markov models;Fariselli,2007

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1. EMILIN1 gene variant associated with polyneuropathy, language impairment, and motor dysfunction;American Journal of Medical Genetics Part A;2024-07-04

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4. Converging Role for REEP1/SPG31 in Oxidative Stress;International Journal of Molecular Sciences;2023-02-09

5. EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis;The American Journal of Human Genetics;2022-12