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Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration Volume 19, 2018 - Issue 5-6
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Genetics

Characterization of the c9orf72 GC-rich low complexity sequence in two cohorts of Italian and Turkish ALS cases

Lucia CorradoDepartment of Health Sciences, Interdisciplinary Research Center of Autoimmune Diseases, Universita’ del Piemonte Orientale, Novara, Italy, Correspondence[email protected]
ORCID Iconhttp://orcid.org/0000-0002-1737-8267View further author information
ORCID Icon,
Cinzia TilocaDepartment of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy, View further author information
,
Clarissa LocciDepartment of Health Sciences, Interdisciplinary Research Center of Autoimmune Diseases, Universita’ del Piemonte Orientale, Novara, Italy, View further author information
,
Alessandra BagarottiDepartment of Health Sciences, Interdisciplinary Research Center of Autoimmune Diseases, Universita’ del Piemonte Orientale, Novara, Italy, View further author information
,
Hamid HamzeiyNeurodegeneration Research Laboratory, Suna and Inan Kirac Foundation, Bogazici University, Istanbul, Turkey, View further author information
,
Claudia ColombritaDepartment of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy, View further author information
,
Fabiola De marchiALS Center, Department of Neurology, Azienda Ospedaliero Universitaria Maggiore della Carità, Novara, Italy, and View further author information
,
Nadia BarizzoneDepartment of Health Sciences, Interdisciplinary Research Center of Autoimmune Diseases, Universita’ del Piemonte Orientale, Novara, Italy, ORCID Iconhttp://orcid.org/0000-0002-1803-647XView further author information
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Diego CotellaDepartment of Health Sciences, Interdisciplinary Research Center of Autoimmune Diseases, Universita’ del Piemonte Orientale, Novara, Italy, ORCID Iconhttp://orcid.org/0000-0003-2714-4744View further author information
ORCID Icon,
Nicola TicozziDepartment of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy, ;Department of Pathophysiology and Transplantation, “Dino Ferrari” Center, Università degli Studi di Milano, Milan, ItalyORCID Iconhttp://orcid.org/0000-0001-5963-7426View further author information
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Letizia MazziniALS Center, Department of Neurology, Azienda Ospedaliero Universitaria Maggiore della Carità, Novara, Italy, and View further author information
,
AYSE Nazli BasakNeurodegeneration Research Laboratory, Suna and Inan Kirac Foundation, Bogazici University, Istanbul, Turkey, View further author information
,
Antonia RattiDepartment of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy, ;Department of Pathophysiology and Transplantation, “Dino Ferrari” Center, Università degli Studi di Milano, Milan, ItalyORCID Iconhttp://orcid.org/0000-0002-4264-6614View further author information
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Vincenzo SilaniDepartment of Neurology and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan, Italy, ;Department of Pathophysiology and Transplantation, “Dino Ferrari” Center, Università degli Studi di Milano, Milan, ItalyORCID Iconhttp://orcid.org/0000-0002-7698-3854View further author information
ORCID Icon &
Sandra D’alfonsoDepartment of Health Sciences, Interdisciplinary Research Center of Autoimmune Diseases, Universita’ del Piemonte Orientale, Novara, Italy, ORCID Iconhttp://orcid.org/0000-0002-3983-9925View further author information
ORCID Icon show all
Pages 426-431 | Received 01 Dec 2017, Accepted 03 Feb 2018, Published online: 28 Feb 2018

References

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  • Ratti A, Corrado L, Castellotti B, Del Bo R, Fogh I, Cereda C, SLAGEN Consortium, et al. C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect. Neurobiol Aging. 2012;33:2528.e7–14.
  • Snowden JS, Harris J, Adams J, Thompson JC, Richardson AM, Jones MS, et al. Psychosis associated with expansions in the C9orf72 gene: the influence of a 10 base pair gene deletion. J Neurol Neurosurg Psychiatry. 2016;87:562–3.
  • Fratta P, Polke JM, Newcombe J, Mizielinska S, Lashley T, Poulter M, et al. Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion. Neurobiol Aging. 2015;36:546.e1–7.
  • Pliner HA, Mann DM, Traynor BJ. Searching for Gendel: origin and global spread of the C9ORF72 repeat expansion. Acta Neuropathol. 2014;127:391–6.

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