Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation-Reference-Cited by-同舟云学术

Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation

Published:2021-01-10 Issue:4 Volume:28 Page:1334-1343
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Euro J of Neurology

Author:

Frasquet Marina¹²³^ORCID,Rojas‐García Ricard³⁴⁵^ORCID,Argente‐Escrig Herminia²³^ORCID,Vázquez‐Costa Juan Francisco¹²³⁶^ORCID,Muelas Nuria¹²³^ORCID,Vílchez Juan Jesús²³^ORCID,Sivera Rafael⁷^ORCID,Millet Elvira⁸,Barreiro Marisa²,Díaz‐Manera Jordi³⁴⁵^ORCID,Turon‐Sans Janina³⁴⁵,Cortés‐Vicente Elena³⁴⁵^ORCID,Querol Luis³⁴⁵^ORCID,Ramírez‐Jiménez Laura⁹,Martínez‐Rubio Dolores¹⁰¹¹,Sánchez‐Monteagudo Ana¹⁰¹¹,Espinós Carmen¹⁰¹¹^ORCID,Sevilla Teresa¹²³⁶^ORCID,Lupo Vincenzo¹⁰¹¹^ORCID

Affiliation:

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

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

3. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) Spain Valencia Spain

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

5. Universitat Autònoma de Barcelona Barcelona Spain

6. Department of Medicine Universitat de València Valencia Spain

7. Department of Neurology Hospital Francesc de Borja Gandía Spain

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

9. Department of Genomics and Translational Genetics Centro de Investigación Príncipe Felipe (CIPF) Valencia Spain

10. Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders Centro de Investigación Príncipe Felipe (CIPF) Valencia Spain

11. Rare Diseases Joint Units INCLIVA and IIS La Fe‐CIPF Valencia Spain

Funder

Instituto de Salud Carlos III

Fundación para la Investigación del Hospital Universitari La Fe

Conselleria de Sanitat Universal i Salut Pública

European Regional Development Fund

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.14700

Reference45 articles.

1. Charcot-Marie-Tooth disease

2. The distal hereditary motor neuropathies

3. Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

4. Phenotype and natural history of inherited neuropathies caused byHSJ1c.352+1G>A mutation

5. Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: A variant of infantile spinal muscular atrophy

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