VRK1 variants in two Portuguese unrelated patients with childhood-onset motor neuron disease-Reference-Cited by-同舟云学术

VRK1 variants in two Portuguese unrelated patients with childhood-onset motor neuron disease

Published:2020-04-02 Issue:3-4 Volume:21 Page:291-295
ISSN:2167-8421
Container-title:Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration
language:en
Short-container-title:Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Author:

Silva Daniela Pimenta¹^ORCID,Soeiro E Sá Mariana²,Silveira Fernando³,Pinto Susana⁴,Gromicho Marta⁴,Sousa Ana Berta²,Leão Miguel⁵,De Carvalho Mamede¹⁴^ORCID

Affiliation:

1. Department of Neurosciences and Mental Health, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa-Norte, Lisbon, Portugal,

2. Medical Genetics Unit, Department of Pediatrics, Hospital de Santa Maria, Centro Hospitalar Universitário de Lisboa-Norte, Lisbon, Portugal,

3. Department of Neurology, Centro Hospitalar Universitário de S. João, Porto, Portugal,

4. Faculdade de Medicina-Instituto de Medicina Molecular, Universidade de Lisboa, Lisbon, Portugal, and

5. Neurogenetics Unit, Department of Medical Genetics, Centro Hospitalar Universitário de S. João, Porto, Portugal

Publisher

Informa UK Limited

Subject

Clinical Neurology,Neurology

Link

https://www.tandfonline.com/doi/pdf/10.1080/21678421.2020.1746343

Reference12 articles.

1. El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis

2. Motor neuron diseases caused by a novel VRK1 variant – A genotype/phenotype study

3. Novel VRK1 Mutations in a Patient with Childhood-onset Motor Neuron Disease

4. Novel motor phenotypes in patients withVRK1mutations without pontocerebellar hypoplasia

5. Expanding Phenotype of VRK1 Mutations in Motor Neuron Disease

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