Upper motor neuron signs and early onset gait abnormalities in young children with bi‐allelic <scp> <i>VWA1</i> </scp> variants-Reference-Cited by-同舟云学术

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Upper motor neuron signs and early onset gait abnormalities in young children with bi‐allelic VWA1 variants

Published:2022-08-17 Issue:12 Volume:188 Page:3531-3534
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Gable Dustin L.¹²³^ORCID,Mo Alisa¹³^ORCID,Estrella Elicia³⁴,Saffari Afshin³^ORCID,Ghosh Partha S.³⁴,Ebrahimi‐Fakhari Darius³⁵⁶^ORCID

Affiliation:

1. Child Neurology Residency Training Program Boston Children's Hospital Boston Massachusetts USA

2. Department of Pediatrics Boston Children's Hospital Boston Massachusetts USA

3. Department of Neurology Boston Children's Hospital Boston Massachusetts USA

4. Neuromuscular Clinic, Department of Neurology Boston Children's Hospital Boston Massachusetts USA

5. Movement Disorders Program, Department of Neurology Boston Children's Hospital Boston Massachusetts USA

6. The Manton Center for Orphan Disease Research Boston Children's Hospital Boston Massachusetts USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62953

Reference7 articles.

1. WARP Is a Novel Multimeric Component of the Chondrocyte Pericellular Matrix That Interacts with Perlecan

2. Mice Lacking the Extracellular Matrix Protein WARP Develop Normally but Have Compromised Peripheral Nerve Structure and Function

3. Genetic alterations ofVWA1: a new link between extracellular matrix and neuromuscular diseases

4. Bi-allelic truncating mutations in VWA1 cause neuromyopathy

5. WARP: A Unique Extracellular Matrix Component of Cartilage, Muscle, and Endothelial Cell Basement Membranes

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1. Proteomic studies in VWA1‐related neuromyopathy allowed new pathophysiological insights and the definition of blood biomarkers;Journal of Cellular and Molecular Medicine;2024-04

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