ArticleChannels (Austin, Tex.)2019
Compound heterozygous CACNA1H mutations associated with severe congenital amyotrophy.
Article in Channels (Austin, Tex.), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed.
- Activation of GABA transmission by clonazepam reverses the autistic-like phenotypes of the Cav3.2 knockout mice.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2025Article
- Two pairs of CACNA1I (CaV3.3) variants with opposite effects on channel function cause neurodevelopmental disorders of varying severity.PLoS genetics · 2025Article
- Calcium channel-coupled transcription factors facilitate direct nuclear signaling.Research square · 2025Article
- The T-type calcium channelosome.Pflugers Archiv : European journal of physiology · 2024Review
- Muscle growth differences in Lijiang pigs revealed by ATAC-seq multi-omics.Frontiers in veterinary science · 2024Article
- Electrophysiological characterization of a CaMolecular brain · 2023Article
- Whole Exome Sequencing of Hemiplegic Migraine Patients Shows an Increased Burden of Missense Variants in CACNA1H and CACNA1I Genes.Molecular neurobiology · 2023Article
- Electrophysiological and computational analysis of CaMolecular brain · 2022Article
- A link between agrin signalling and CaScientific reports · 2022Article
- [Mibefradil improves skeletal muscle mass, function and structure in obese mice].Nan fang yi ke da xue xue bao = Journal of Southern Medical University · 2022Article
- Contribution ofFrontiers in psychiatry · 2022Article
- Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy.Cells · 2021Review
- Detection of loci exhibiting pleiotropic effects on body weight and egg number in female broilers.Scientific reports · 2021Article
- Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp?Molecular brain · 2021Article
- Response to Hall et al.American journal of human genetics · 2020Article
- Transcriptomic analysis of glycan-processing genes in the dorsal root ganglia of diabetic mice and functional characterization on CaChannels (Austin, Tex.) · 2020Article
- T-type calcium channel blockade induces apoptosis in C2C12 myotubes and skeletal muscle via endoplasmic reticulum stress activation.FEBS open bio · 2020Article
- Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis.American journal of human genetics · 2020Article
- CACNA1H downregulation induces skeletal muscle atrophy involving endoplasmic reticulum stress activation and autophagy flux blockade.Cell death & disease · 2020Article
- A rare CACNA1H variant associated with amyotrophic lateral sclerosis causes complete loss of CaMolecular brain · 2020Article
Corrections and comments
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Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neuromuscular disorders encompass a wide range of conditions often associated with a genetic component. In the present study, we report a patient with severe infantile-onset amyotrophy in whom two compound heterozygous variants in the gene CACNA1H encoding for Ca
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Registered trials
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