High diagnostic yield and novel variants in very late-onset spasticity-Reference-Cited by-同舟云学术

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High diagnostic yield and novel variants in very late-onset spasticity

Published:2019-01-02 Issue:1 Volume:33 Page:27-32
ISSN:0167-7063
Container-title:Journal of Neurogenetics
language:en
Short-container-title:Journal of Neurogenetics

Author:

Almomen Momen¹,Martens Kristina²,Quadir Asfia²,Pontifex Carly Sabine²,Hanson Alexandra³,Korngut Lawrence²³,Pfeffer Gerald²³^ORCID

Affiliation:

1. Section of Neurology, Department of Pediatrics, University of Calgary, Calgary, Canada;

2. Hotchkiss Brain Institute, University of Calgary, Calgary, Canada;

3. Department of Clinical Neurosciences, Cumming School of Medicine, University of Calgary, Calgary, Canada

Publisher

Informa UK Limited

Subject

Cellular and Molecular Neuroscience,Genetics

Link

https://www.tandfonline.com/doi/pdf/10.1080/01677063.2019.1566326

Reference21 articles.

1. Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing

2. Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes

3. Truncating mutations inSPASTpatients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia

4. SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases

5. Clinical and genetic study of hereditary spastic paraplegia in Canada

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