Semantic and nonfluent aphasic variants, secondarily associated with amyotrophic lateral sclerosis, are predominant frontotemporal lobar degeneration phenotypes in TBK1 carriers

INTRODUCTION: TBK1 mutations represent a rare novel genetic cause of amyotrophic lateral sclerosis (ALS) without or with dementia. The full spectrum of TBK1 phenotypes has not been completely defined so far. METHODS: We describe the clinical and neuroimaging characteristics of loss-of-function mutat...

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Vydáno v:Alzheimers Dement (Amst)
Hlavní autoři: Caroppo, Paola, Camuzat, Agnès, De Septenville, Anne, Couratier, Philippe, Lacomblez, Lucette, Auriacombe, Sophie, Flabeau, Olivier, Jornéa, Ludmila, Blanc, Frederic, Sellal, François, Cretin, Benjamin, Meininger, Vincent, Fleury, Marie-Céline, Couarch, Philippe, Dubois, Bruno, Brice, Alexis, Le Ber, Isabelle
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2015
Témata:
Genetics
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4879495/
https://ncbi.nlm.nih.gov/pubmed/27239526
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.dadm.2015.10.002
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