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ATN1 gene

Known as: ATN1, DRPLA GENE, DRPLA 
National Institutes of Health

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Dentatorubral-Pallidoluysian Atrophyatrophin-1

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2008
2008
Chorea‐ballism associated with familial amyotrophic lateral sclerosis. A clinical, genetic, and neuropathological study
Hyperkinetic movements in amyotrophic lateral sclerosis (ALS) are extremely rare. We present clinical, neuropathological, and… 
2005
2005
Frequency analysis of autosomal dominant spinocerebellar ataxias in mainland Chinese patients and clinical and molecular characterization of spinocerebellar ataxia type 6.
BACKGROUND Dominantly inherited spinocerebellar ataxia (SCA) is a clinically and genetically heterogeneous group of… 
2003
2003
Genomic structure and alternative splicing of the insulin receptor tyrosine kinase substrate of 53-kDa protein
AbstractInsulin receptor tyrosine kinase substrate of 53-kDa protein (IRSp53) is now known to be a key factor in cytoskeleton… 
2000
2000
Absence of unidentified CAG repeat expansion in patients with Huntington's disease-like phenotype
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by an expanded (CAG)n repeat on the… 
1999
1999
Trinucleotide repeat polymorphism at five disease loci in mixed Hungarian population.
In apparently healthy, unrelated Hungarians we examined triplet repeat length polymorphism at Huntington disease (HD), spinal and… 
1999
1999
Corneal endothelial changes and trinucleotide repeat expansion of DRPLA gene
Editor,—Dentatorubral and pallidoluysian atrophy (DRPLA) is an autosomal dominant disorder that manifests in a combination of… 
1998
1998
DRPLA aggregation and transglutaminase, revisited
nature genetics volume 20 november 1998 231 full-length transcript as control cells. Cells from SMA type I and II individuals… 
1998
1998
Loss of the dentate nucleus neurons is associated with torpedo formation: a morphometric study in progressive supranuclear palsy and dentatorubro-pallidoluysian atrophy
Abstract Cerebellar torpedoes can be induced by direct damage to Purkinje cell axons. This raises the possibility that the loss… 
1996
1996
Dentatorubral‐pallidoluysian atrophy. Clinical features of a five‐generation danish family
We describe the first Danish family with dentatorubral‐pallidoluysian atrophy (DRPLA), containing 16 clinically affected… 
1994
1994
High-intensity proton and T2-weighted MRI signals in the globus pallidus in juvenile-type of dentatorubral and pallidoluysian atrophy.
Dentatorubral and pallidoluysian atrophy (DRPLA) is an autosomal dominant neurodegenerative disorder. An expanded CAG… 
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