Associated Papers
A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.
Bianchi A et al.
Nar Genomics and Bioinformatics, 2024
A Review of the CACNA Gene Family: Its Role in Neurological Disorders.
Szymanowicz O et al.
Diseases (basel, Switzerland), 2024
Functional implications of paralog genes in polyglutamine spinocerebellar ataxias.
Felício D et al.
Human Genetics, 2023
CACNA1B gene variants in adult-onset isolated focal dystonia.
Cocoș R et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function - Implications for Potential Therapies.
Striessnig J
Frontiers in Synaptic Neuroscience, 2021
Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders.
Lal D et al.
Genome Medicine, 2020
Twenty years on: Myoclonus-dystonia and ε-sarcoglycan - neurodevelopment, channel, and signaling dysfunction.
Menozzi E et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2019
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM et al.
American Journal of Human Genetics, 2019
Identification of human D lactate dehydrogenase deficiency.
Monroe GR et al.
Nature Communications, 2019
Novel Dystonia Genes: Clues on Disease Mechanisms and the Complexities of High-Throughput Sequencing.
Domingo A et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2016
Unmet Needs in Dystonia: Genetics and Molecular Biology-How Many Dystonias?
Verbeek DS et al.
Frontiers in Neurology, 2016
The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort.
Mencacci NE et al.
Human Molecular Genetics, 2015
CACNA1B mutation is linked to unique myoclonus-dystonia syndrome.
Groen JL et al.
Human Molecular Genetics, 2015