A Novel Splice-Acceptor Site Mutation in GRN (c.709-2 A>T) Causes Frontotemporal Dementia Spectrum in a Large Family from Southern Italy

Author:

Sassi Celeste1234,Capozzo Rosa5,Gibbs Raphael1,Crews Cynthia1,Zecca Chiara5,Arcuti Simona5,Copetti Massimiliano6,Barulli Maria R.5,Brescia Vincenzo7,Singleton Andrew B.1,Logroscino Giancarlo58

Affiliation:

1. Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, MD, USA

2. Reta Lila, Weston Research Laboratories, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK

3. Department of Experimental Neurology, Center for Stroke Research Berlin (CSB), Charite’ Universitätmedizin, Berlin, Germany

4. German Center for Neurodegenerative Diseases (DZNE), Berlin, Germany

5. Department of Clinical Research in Neurology, University of Bari at “Pia Fondazione Card G. Panico” Hospital, Tricase, Lecce, Italy

6. Unit of Biostatistics, IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy

7. Unit of Laboratory Medicine, “Pia Fondazione Card. G. Panico”, Tricase, Lecce, Italy

8. Department of Basic Medical Sciences, Neuroscience and Sense Organs, University of Bari ‘Aldo Moro’, Bari, Italy

Publisher

IOS Press

Subject

Psychiatry and Mental health,Geriatrics and Gerontology,Clinical Psychology,General Medicine,General Neuroscience

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