Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy-Reference-Cited by-同舟云学术

Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy

Published:2023-10 Issue:5 Volume:9 Page:
ISSN:2376-7839
Container-title:Neurology Genetics
language:en
Short-container-title:Neurol Genet

Author:

Schiava Marianela¹^ORCID,Ikenaga Chiseko¹^ORCID,Topf Ana¹,Caballero-Ávila Marta¹^ORCID,Chou Tsui-Fen¹,Li Shan¹,Wang Feng¹,Daw Jil¹,Stojkovic Tanya¹^ORCID,Villar-Quiles Rocio¹,Nishino Ichizo¹^ORCID,Inoue Michio¹^ORCID,Nishimori Yukako¹,Saito Yoshihiko¹,Katsuno Masahisa¹^ORCID,Noda Seiya¹,Ito Chihiro¹,Otsuka Mieko¹,Nahir Sruthi¹,Manousakis Georgios¹,Walk David¹^ORCID,Quinn Colin¹^ORCID,Alfano Lindsay¹,Sahenk Zarife¹,Tasca Giorgio¹^ORCID,Monforte Mauro¹,Sabatelli Mario¹,Bisogni Giulia¹,Oldfors Anders¹,Rydeliu Anna¹^ORCID,Pal Endre¹^ORCID,Paradas Carmen¹,Velez Beatriz¹,De Bleecker Jan L.¹,Farugia Maria Elena¹,Longman Cheryl¹,Harms Matthew B.¹,Ralston Stuart¹^ORCID,Zanoteli Edmar¹,Macedo Serafim da Silva Andre¹,Sotoca Javier¹^ORCID,Juntas-Morales Raul¹,Bevilacqua Jorge¹^ORCID,Balart Mireya¹,Talbot Stuart¹,Straub Volker¹^ORCID,Guglieri Michela¹,Marini-Bettolo Chiara¹,Diaz-Manera Jordi¹,Weihl Conrad Chris¹

Affiliation:

1. From the John Walton Muscular Dystrophy Research Centre (M. Schiava, A.T., V.S., M.G., C.M.-B., J.D.-M.), Institute of Genetic Medicine, Centre for Life, Newcastle University and Newcastle Hospitals NHS Foundation Trusts, Newcastle Upon Tyne, United Kingdom; Johns Hopkins University School of Medicine (C. Ikenaga), Baltimore, MD; Unidad de Enfermedades Neuromusculares (M.C.-Á.), Servicio de Neurología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Division of Biology and Biological...

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),Neurology (clinical)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/NXG.0000000000200093

Reference41 articles.

1. The VCP/p97 system at a glance: connecting cellular function to disease pathogenesis

2. Clinical Delineation and Localization to Chromosome 9p13.3–p12 of a Unique Dominant Disorder in Four Families: Hereditary Inclusion Body Myopathy, Paget Disease of Bone, and Frontotemporal Dementia

3. 215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13–15 November 2015, Heemskerk, The Netherlands

4. Multisystem proteinopathy: Where myopathy and motor neuron disease converge

5. Phenotypic diversity in an international Cure VCP Disease registry

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