Case Report: Association of a Variant of Unknown Significance in the FIG4 Gene With Frontotemporal Dementia and Slowly Progressing Motoneuron Disease: A Case Report Depicting Common Challenges in Clinical and Genetic Diagnostics of Rare Neuropsychiatric and Neurologic Disorders

BACKGROUND: Modern genetics have in many ways revolutionized clinical routine and have, for instance, shown that formerly distinct disease entities relate to common pathogenic mutations. One such example is the connection between dementia and amyotrophic lateral sclerosis (ALS) in a continuous disea...

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Detalles Bibliográficos
Autores principales: Bergner, Caroline Gertrud, Neuhofer, Christiane Michaela, Funke, Claudia, Biskup, Saskia, von Gottberg, Philipp, Bartels, Claudia, Koch, Jan Christoph, Radenbach, Katrin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7793702/
https://www.ncbi.nlm.nih.gov/pubmed/33424531
http://dx.doi.org/10.3389/fnins.2020.559670

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7793702/
https://www.ncbi.nlm.nih.gov/pubmed/33424531
http://dx.doi.org/10.3389/fnins.2020.559670

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