Charcot–Marie–Tooth disease due to MORC2 mutations in Spain-Reference-Cited by-同舟云学术

Charcot–Marie–Tooth disease due to MORC2 mutations in Spain

Published:2021-07-18 Issue:9 Volume:28 Page:3001-3011
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Eur J Neurol

Author:

Sivera Rafael¹^ORCID,Lupo Vincenzo²^ORCID,Frasquet Marina³⁴⁵^ORCID,Argente‐Escrig Herminia³⁴⁵^ORCID,Alonso‐Pérez Jorge⁶⁷^ORCID,Díaz‐Manera Jordi⁵⁶⁷⁸,Querol Luis⁵⁶⁷,Mar García‐Romero María⁹¹⁰,Ignacio Pascual Samuel⁹¹⁰,García‐Sobrino Tania¹¹^ORCID,Paradas Carmen¹²¹³,Francisco Vázquez‐Costa Juan³⁴⁵¹⁴^ORCID,Muelas Nuria³⁴⁵^ORCID,Millet Elvira¹⁵,Jesús Vílchez Juan³⁴⁵¹⁴,Espinós Carmen²^ORCID,Sevilla Teresa³⁴⁵¹⁴^ORCID

Affiliation:

1. Department of Neurology Hospital Francesc de Borja Gandía Spain

2. Unit of Rare Neurodegenerative Diseases Felipe Centro de Investigación Príncipe Valencia Spain

3. Neuromuscular Diseases Unit Department of Neurology Hospital Universitari i Politècnic La Fe Valencia Spain

4. Neuromuscular and Ataxias Research Group Instituto de Investigación Sanitaria La Fe Valencia Spain

5. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III Madrid Spain

6. Neuromuscular Diseases Unit Department of Neurology Hospital de la Santa Creu i Sant Pau Barcelona Spain

7. Universitat Autonoma de Barcelona Barcelona Spain

8. John Walton Muscular Dystrophy Research CenterNewcastle University Translational and Clinical Research Institute Newcastle Upon Tyne UK

9. Neuropaediatrics Department Hospital Universitario La Paz Madrid Spain

10. Department of Pediatrics Universidad Autónoma de Madrid Madrid Spain

11. Department of Neurology Complexo Hospitalario Universitario de Santiago de Compostela Santiago de Compostela Spain

12. Department of Neurology Hospital Universitario Virgen del Rocío Sevilla Spain

13. Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED) Madrid Spain

14. Department of Medicine Universitat de València Valencia Spain

15. Neuromuscular Diseases Unit Department of Clinical Neurophysiology Hospital Universitari i Politècnic La Fe Valencia Spain

Funder

Conselleria de Innovación, Universidades, Ciencia y Sociedad Digital, Generalitat Valenciana

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.15001

Reference24 articles.

1. Mutations in theMORC2gene cause axonal Charcot–Marie–Tooth disease

2. MORC2mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs

3. Severe axonal Charcot-Marie-Tooth disease with proximal weakness caused byde novomutation in theMORC2gene

4. Clinico-genetics in Korean Charcot-Marie-Tooth disease type 2Z withMORC2mutations

5. MORC2mutations in a cohort of Chinese patients with Charcot–Marie–Tooth disease type 2

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