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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 17, 2016 - Issue 3-4
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Clinical and neuroimaging characterization of two C9orf72-positive siblings with amyotrophic lateral sclerosis and schizophrenia

Juan F. Vázquez-CostaNeuromuscular Research Unit, Instituto de Investigación Sanitaria la Fe (IIS La Fe), Valencia, ;Department of Neurology, Hospital Universitario y Politécnico La Fe, Valencia, ;Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Correspondence[email protected]
,
Eva BeltránLaboratory of Molecular Genetics, Institut de Biomedicina de València-CSIC, Valencia,
,
Pablo SopenaNuclear Medicine Department, Hospital Universitario y Politécnico La Fe, Valencia,
,
Ana SabaterDepartment of Psychiatry, Hospital Universitario y Politécnico La Fe, Valencia, and
,
Fernando CardonaLaboratory of Molecular Genetics, Institut de Biomedicina de València-CSIC, Valencia, ;Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), ;Unidad Mixta de Investigación en Neurología y Genética Molecular, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia,
,
Juan J. VilchezNeuromuscular Research Unit, Instituto de Investigación Sanitaria la Fe (IIS La Fe), Valencia, ;Department of Neurology, Hospital Universitario y Politécnico La Fe, Valencia, ;Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ;Department of Medicine, University of Valencia, Valencia, Spain
,
Jordi Pérez-TurLaboratory of Molecular Genetics, Institut de Biomedicina de València-CSIC, Valencia, ;Centro de Investigación Biomédica en Red de Enfermedades Neurodegenerativas (CIBERNED), ;Unidad Mixta de Investigación en Neurología y Genética Molecular, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Valencia,
&
Teresa SevillaNeuromuscular Research Unit, Instituto de Investigación Sanitaria la Fe (IIS La Fe), Valencia, ;Department of Neurology, Hospital Universitario y Politécnico La Fe, Valencia, ;Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ;Department of Medicine, University of Valencia, Valencia, Spain
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Pages 297-300 | Received 21 Jul 2015, Accepted 20 Sep 2015, Published online: 27 Nov 2015

References

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  • Davidson YS, Barker H, Robinson AC, Thompson JC, Harris J, Troakes C, et al. Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neuron disease associated with expansions in C9ORF72. Acta Neuropathol Commun. 2014;2:1–13.
  • Proudfoot M, Gutowski NJ, Edbauer D, Hilton D, Stephens M, Rankin J, et al. Early dipeptide repeat pathology in a frontotemporal dementia kindred with C9orf72 mutation and intellectual disability. Acta Neuropathol. 2014;127:451–8.
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