Sex influences clinical phenotype in valosin-containing protein mutations: A case family report and systematic literature review-Reference-Cited by-同舟云学术

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Sex influences clinical phenotype in valosin-containing protein mutations: A case family report and systematic literature review

Published:2023-09 Issue: Volume:232 Page:107875
ISSN:0303-8467
Container-title:Clinical Neurology and Neurosurgery
language:en
Short-container-title:Clinical Neurology and Neurosurgery

Author:

Leccese Deborah,Rodolico Gabriele Rosario,Sperti Martina,Cassandrini Denise,Bartolini Marco,Ingannato Assunta^ORCID,Nacmias Benedetta,Bracco Laura,Malandrini Alessandro,Santorelli Filippo Maria,Bessi Valentina,Matà Sabrina^ORCID

Funder

Regione Toscana

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Surgery

Reference35 articles.

1. 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;Kovach;Mol. Genet Metab.,2001

2. Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein;Watts;Nat. Genet.,2004

3. Multisystem proteinopathy due to VCP mutations: a review of clinical heterogeneity and genetic diagnosis;Pfeffer;Genes (Basel),2022

4. The VCP/p97 system at a glance: connecting cellular function to disease pathogenesis;Meyer;J. Cell Sci.,2014

5. Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia;Mehta;Clin. Genet.,2013

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