A novel <i>TRMT5</i> mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy-Reference-Cited by-同舟云学术

A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy

Published:2022-04-10 Issue:5 Volume:48 Page:
ISSN:0305-1846
Container-title:Neuropathology and Applied Neurobiology
language:en
Short-container-title:Neuropathology Appl Neurobio

Author:

Argente‐Escrig Herminia¹²³⁴^ORCID,Vílchez Juan J.¹²³⁴^ORCID,Frasquet Marina¹²³⁴^ORCID,Muelas Nuria¹²³⁴^ORCID,Azorín Inmaculada¹²³⁴,Vílchez Roger¹²⁴,Millet‐Sancho Elvira³⁵,Pitarch Inmaculada⁶,Tomás‐Vila Miguel⁶,Vázquez‐Costa Juan F.¹²³⁴⁷^ORCID,Mas‐Estellés Fernando⁸,Marco‐Marín Clara³⁹,Espinós Carmen³⁴¹⁰^ORCID,Serrano‐Lorenzo Pablo³¹¹,Martin Miguel A.³¹¹,Lupo Vincenzo³⁴¹⁰^ORCID,Sevilla Teresa¹²³⁴⁷^ORCID

Affiliation:

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

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

3. Centre for Biomedical Network Research on Rare Diseases (CIBERER) Valencia Spain

4. Rare Diseases Joint Unit IIS La Fe – CIPF Valencia Spain

5. Department of Clinical Neurophysiology Hospital Universitari i Politècnic La Fe Valencia Spain

6. Neuropediatrics Unit, Department of Pediatrics Hospital Universitari i Politècnic La Fe Valencia Spain

7. Department of Medicine Universitat de Vàlencia Valencia Spain

8. Neurorradiology Section‐ASCIRES, Radiology Department. Hospital Universitari i Politècnic La Fe Valencia Spain

9. Instituto de Biomedicina de Valencia (IBV‐CSIC) Valencia Spain

10. Unit of Rare Neurodegenerative Diseases Centro de Investigación Príncipe Felipe (CIPF) Valencia Spain

11. Mitochondrial and Neuromuscular Disorders Research Group Instituto de Investigación Sanitaria Hospital Universitario 12 de Octubre Madrid Spain

Funder

Fundación Isabel Gemio

Generalitat Valenciana

European Regional Development Fund

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Physiology (medical),Neurology (clinical),Neurology,Histology,Pathology and Forensic Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/nan.12817

Reference26 articles.

1. Charcot–Marie–Tooth disease and related disorders: an evolving landscape

2. Neuropathology and pathogenesis of mitochondrial diseases

3. The clinical maze of mitochondrial neurology

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