Spastic paraplegia preceding PSEN1‐related familial Alzheimer's disease

INTRODUCTION: We investigated the frequency, neuropathology, and phenotypic characteristics of spastic paraplegia (SP) that precedes dementia in presenilin 1 (PSEN1) related familial Alzheimer's disease (AD). METHODS: We performed whole exome sequencing (WES) in 60 probands with hereditary spas...

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Detalles Bibliográficos
Autores principales: Chelban, Viorica, Breza, Marianthi, Szaruga, Maria, Vandrovcova, Jana, Murphy, David, Lee, Chia‐Ju, Alikhwan, Sondos, Bourinaris, Thomas, Vavougios, George, Ilyas, Muhammad, Halim, Sobia Ahsan, Al‐Harrasi, Ahmed, Kartanou, Chrisoula, Ronald, Coras, Blumcke, Ingmar, Alexoudi, Athanasia, Gatzonis, Stylianos, Stefanis, Leonidas, Karadima, Georgia, Wood, Nicholas W., Chávez‐Gutiérrez, Lucía, Hardy, John, Houlden, Henry, Koutsis, Georgios
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8088589/
https://www.ncbi.nlm.nih.gov/pubmed/33969176
http://dx.doi.org/10.1002/dad2.12186

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8088589/
https://www.ncbi.nlm.nih.gov/pubmed/33969176
http://dx.doi.org/10.1002/dad2.12186

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