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Intrafamilial Phenotypic Variability in the C9orf72 Gene Expansion: 2 Case Studies
The C9orf72 genetic mutation is the most common cause of familial frontotemporal dementia (FTD) and motor neuron disease (MND). Previous family studies suggest that while some common clinical features may distinguish gene carriers from sporadic patients, the clinical features, age of onset and disea...
Autores principales: | Foxe, David, Elan, Elle, Burrell, James R., Leslie, Felicity V. C., Devenney, Emma, Kwok, John B., Halliday, Glenda M., Hodges, John R., Piguet, Olivier |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6129762/ https://www.ncbi.nlm.nih.gov/pubmed/30233460 http://dx.doi.org/10.3389/fpsyg.2018.01615 |
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