Homozygous GRN mutations: new phenotypes and new insights into pathological and molecular mechanisms. [electronic resource]
Producer: 20200818Description: 303-319 p. digitalISSN:- 1460-2156
- Adolescent
- Adult
- Age of Onset
- Cerebellar Ataxia -- genetics
- Child
- Cognitive Dysfunction -- genetics
- Epilepsy -- genetics
- Female
- Frontotemporal Dementia -- diagnostic imaging
- Heterozygote
- Homozygote
- Humans
- Male
- Middle Aged
- Mutation
- Neuronal Ceroid-Lipofuscinoses -- diagnostic imaging
- Parkinsonian Disorders -- diagnostic imaging
- Progranulins -- genetics
- RNA Splicing -- genetics
- Rare Diseases
- Retinitis Pigmentosa -- genetics
- TDP-43 Proteinopathies -- diagnostic imaging
- Young Adult
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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