Clinical spectrum of BICD2 mutations-Reference-Cited by-同舟云学术

Clinical spectrum of BICD2 mutations

Published:2020-03-16 Issue:7 Volume:27 Page:1327-1335
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Eur J Neurol

Author:

Frasquet M.¹²³^ORCID,Camacho A.⁴⁵,Vílchez R.²,Argente‐Escrig H.¹²³⁶,Millet E.⁷,Vázquez‐Costa J. F.¹²³⁶⁸^ORCID,Silla R.⁹,Sánchez‐Monteagudo A.³¹⁰,Vílchez J. J.¹²³⁶,Espinós C.³¹⁰¹¹¹²^ORCID,Lupo V.³¹⁰¹¹^ORCID,Sevilla T.¹²³⁶⁸^ORCID

Affiliation:

1. Neuromuscular Diseases Unit Neurology Department Hospital Universitari i Politècnic La Fe ValenciaSpain

2. Neuromuscular & Ataxias Research Group Instituto de Investigación Sanitaria La Fe ValenciaSpain

3. Joint Unit for Research on Rare Diseases CIPF‐IISLa Fe Valencia Spain

4. Division of Child Neurology Hospital Universitario 12 de Octubre MadridSpain

5. Faculty of Medicine Complutense University of Madrid Madrid Spain

6. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) ValenciaSpain

7. Department of Clinical Neurophysiology Hospital Universitari i Politècnic La Fe ValenciaSpain

8. Department of Medicine Universitat de València ValenciaSpain

9. Neurology Department Hospital Clínico Universitario ValenciaSpain

10. Service of Genomics and Translational Genetics Centro de Investigación Príncipe Felipe (CIPF) ValenciaSpain

11. Unit of Genetics and Genomics of Neuromuscular and Neurodegenerative Disorders ValenciaSpain

12. Department of Genetics Universitat de València Valencia Spain

Funder

European Regional Development Fund

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.14173

Reference30 articles.

1. Mutations in BICD2, which Encodes a Golgin and Important Motor Adaptor, Cause Congenital Autosomal-Dominant Spinal Muscular Atrophy

2. Mutations in BICD2 Cause Dominant Congenital Spinal Muscular Atrophy and Hereditary Spastic Paraplegia

3. Molecular Defects in the Motor Adaptor BICD2 Cause Proximal Spinal Muscular Atrophy with Autosomal-Dominant Inheritance

4. Bicaudal D induces selective dynein-mediated microtubule minus end-directed transport

5. Bicaudal D2, Dynein, and Kinesin-1 Associate with Nuclear Pore Complexes and Regulate Centrosome and Nuclear Positioning during Mitotic Entry

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Hereditary motor neuropathies;Current Opinion in Neurology;2022-08-08

2. Novel insights into the genetic profile of hereditary spastic paraplegia in India;Journal of Neurogenetics;2022-01-02

3. An infant with congenital respiratory insufficiency and diaphragmatic paralysis: A novel BICD2 phenotype?;American Journal of Medical Genetics Part A;2021-11-26

4. Distal hereditary motor neuropathies: Mutation spectrum and genotype–phenotype correlation;European Journal of Neurology;2021-01-10

5. Clinical, Genetic, and Disability Profile of Pediatric Distal Hereditary Motor Neuropathy;Neurology;2020-10-16