ArticleThe Journal of small animal practice2016
NHLRC1 repeat expansion in two beagles with Lafora disease.
Article in The Journal of small animal practice, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
13 citing papers in PubMed, 28 citations in OpenAlex.
- Article
- Article
- Lafora Disease and Alpha-Synucleinopathy in Two Adult Free-Ranging Moose (Animals : an open access journal from MDPI · 2022Article
- A retrospective case series of clinical signs in 28 Beagles with Lafora disease.Journal of veterinary internal medicine · 2021Article
- Canine Lafora Disease: An Unstable Repeat Expansion Disorder.Life (Basel, Switzerland) · 2021Article
- International veterinary canine dyskinesia task force ECVN consensus statement: Terminology and classification.Journal of veterinary internal medicine · 2021Article
- Brain proton magnetic resonance spectroscopy findings in a Beagle dog with genetically confirmed Lafora disease.Journal of veterinary internal medicine · 2020Article
- EEG Patterns Orienting to Lafora Disease Diagnosis-A Case Report in Two Beagles.Frontiers in veterinary science · 2020Article
- Nationwide genetic testing towards eliminating Lafora disease from Miniature Wirehaired Dachshunds in the United Kingdom.Canine genetics and epidemiology · 2018Article
- Classification of Involuntary Movements in Dogs: Myoclonus and Myotonia.Journal of veterinary internal medicine · 2017Review
- Generalized myoclonic epilepsy with photosensitivity in juvenile dogs caused by a defective DIRAS family GTPase 1.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- Lafora disease in miniature Wirehaired Dachshunds.PloS one · 2017Article
- Identification of a novel RBCK1 splice site donor variant in Basset Hounds with glycogen storage disease myopathy.Molecular genetics and metabolismArticle
Corrections and comments
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Authors and funding
7 authors at 7 institutions in 6 countries.
Funding
Abstract
Lafora disease is a fatal genetic disorder characterised by neurotoxic deposits of malformed insoluble glycogen. In humans it is caused by mutation in the EPM2A or NHLRC1 genes. There is a known mutation in miniature wirehaired dachshunds which has not been documented in other dog breeds, including beagles, in which the disease is relatively commonly reported. This case report describes the causative defect in two affected beagles, namely the same massive expansion as in miniature wirehaired dachshunds of a 12-nucleotide repeat sequence that is unique to the canine NHLRC1 gene. This is the first mutation described in beagles with Lafora disease, and so far the only Lafora disease genetic variant in dogs.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.