Associated Papers
Clinical Phenotype Spectrum in Two Large Chinese Families With Rippling Muscle Disease Caused by CAV-3 c.80G>A.
Shen Y et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies.
Nallamilli BRR et al.
Annals of Clinical and Translational Neurology, 2023
Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohort.
Berling E et al.
European Journal of Neurology, 2023
Coexistence of a Heterozygous Caveolin-3 Deletion and a Novel Dystrophin Gene Mutation in a Duchenne Muscular Dystrophy Patient.
Khan MW et al.
Cureus, 2023
Genetic Diagnosis in Movement Disorders. Use of Whole-Exome Sequencing in Clinical Practice.
Millar Vernetti P et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2022
Annexins and Membrane Repair Dysfunctions in Muscular Dystrophies.
Croissant C et al.
International Journal of Molecular Sciences, 2021
Differential diagnosis of vacuolar myopathies in the NGS era.
Mair D et al.
Brain Pathology (zurich, Switzerland), 2020
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Immunofluorescence-Based Analysis of Caveolin-3 in the Diagnostic Management of Neuromuscular Diseases.
Roos A et al.
Methods in Molecular Biology (clifton, N.j.), 2020
Coexistence of a CAV3 mutation and a DMD deletion in a family with complex muscular diseases.
Hiraide T et al.
Brain & Development, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
[Clinical and genetic study of a Chinese family affected with caveolinopathies].
Nie H et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.
Izumi R et al.
Neurology. Genetics, 2015
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
Magri F et al.
Bmc Neurology, 2015
Cavin 1 function does not follow caveolar morphology.
Timmel T et al.
American Journal of Physiology. Cell Physiology, 2015
The role of CAV3 in long-QT syndrome: clinical and functional assessment of a caveolin-3/Kv11.1 double heterozygote versus caveolin-3 single heterozygote.
Hedley PL et al.
Circulation. Cardiovascular Genetics, 2013
Unilateral calf atrophy secondary to a de novo mutation of the caveolin-3 gene.
Arias Gómez M et al.
Muscle & Nerve, 2011
Rippling muscle disease: variable phenotype in a family with five afflicted members.
Jacobi C et al.
Muscle & Nerve, 2010
Phenotypic variability in a Spanish family with a Caveolin-3 mutation.
González-Pérez P et al.
Journal of the Neurological Sciences, 2009
Molecular and muscle pathology in a series of caveolinopathy patients.
Fulizio L et al.
Human Mutation, 2005
Identification of a dysferlin gene mutation in a Korean case with Miyoshi myopathy.
Oh SH et al.
Yonsei Medical Journal, 2004
Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.
Figarella-Branger D et al.
Neurology, 2003
The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.
Matsuda C et al.
Human Molecular Genetics, 2001
Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy.
Herrmann R et al.
Human Molecular Genetics, 2000