Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Clinical Trial Readiness in Limb Girdle Muscular Dystrophy R1 (LGMDR1): A GRASP Consortium Study.
Hunn SM et al.
Annals of Clinical and Translational Neurology, 2025
Deconstructing Intratumoral Heterogeneity through Multiomic and Multiscale Analysis of Serial Sections.
Schupp PG et al.
Cancers, 2024
Deconstructing intratumoral heterogeneity through multiomic and multiscale analysis of serial sections.
Schupp PG et al.
Biorxiv : the Preprint Server for Biology, 2024
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
Genetic findings in Czech patients with limb girdle muscular dystrophy.
Zídková J et al.
Clinical Genetics, 2023
Integrated analysis of canine soft tissue sarcomas identifies recurrent mutations in TP53, KMT genes and PDGFB fusions.
Das S et al.
Scientific Reports, 2023
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).
Barp A et al.
Journal of Neurology, 2020
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
Cardiopulmonary dysfunction in patients with limb-girdle muscular dystrophy 2A.
Mori-Yoshimura M et al.
Muscle & Nerve, 2017
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
Reddy HM et al.
Journal of Human Genetics, 2017
Calpain 3 deficiency affects SERCA expression and function in the skeletal muscle.
Toral-Ojeda I et al.
Expert Reviews in Molecular Medicine, 2016
Natural history of LGMD2A for delineating outcome measures in clinical trials.
Richard I et al.
Annals of Clinical and Translational Neurology, 2016
Genetic profile for suspected dysferlinopathy identified by targeted next-generation sequencing.
Izumi R et al.
Neurology. Genetics, 2015
Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1).
Chen Q et al.
Biomolecules, 2015
Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients.
Nilsson MI et al.
Plos One, 2014
Risk factors for osteoporosis, falls and fractures in hereditary myopathies and sporadic inclusion body myositis - A cross sectional survey.
Danckworth F et al.
Molecular Genetics and Metabolism Reports, 2014
Impaired calcium calmodulin kinase signaling and muscle adaptation response in the absence of calpain 3.
Kramerova I et al.
Human Molecular Genetics, 2012
Limb-girdle muscular dystrophy type 2A can result from accelerated autoproteolytic inactivation of calpain 3.
Garnham CP et al.
Biochemistry, 2009
Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.
Blázquez L et al.
Neurogenetics, 2008
Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
Groen EJ et al.
Brain : a Journal of Neurology, 2007
Extensive scanning of the calpain-3 gene broadens the spectrum of LGMD2A phenotypes.
Piluso G et al.
Journal of Medical Genetics, 2005
Novel mutations in the calpain 3 gene in Germany.
Todorova A et al.
Clinical Genetics, 2005
A common haplotype associated with the Basque 2362AG --> TCATCT mutation in the muscular calpain-3 gene.
Cobo AM et al.
Human Biology, 2004
Molecular diagnosis in LGMD2A: mutation analysis or protein testing?
Fanin M et al.
Human Mutation, 2004
Loss of calpain-3 autocatalytic activity in LGMD2A patients with normal protein expression.
Fanin M et al.
The American Journal of Pathology, 2003
Calpainopathy-a survey of mutations and polymorphisms.
Richard I et al.
American Journal of Human Genetics, 1999
Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain).
Urtasun M et al.
Brain : a Journal of Neurology, 1998