Published in
American Association for the Advancement of Science, Science Translational Medicine, 385(9), 2017
DOI: 10.1126/scitranslmed.aah5642
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Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis
Journal article published in 2017 by
Michael E. Ward 
,
Robert Chen,
Hsin-Yi Huang ,
Connor Ludwig,
Maria Telpoukhovskaia ,
Ali Taubes ,
Helene Boudin ,
Sakura S. Minami,
Meredith Reichert ,
Philipp Albrecht ,
Jeffrey M. Gelfand ,
Andres Cruz-Herranz ,
Christian Cordano ,
Marcel V. Alavi ,
Shannon Leslie
and other authors.
,
Robert Chen,
Hsin-Yi Huang ,
Connor Ludwig,
Maria Telpoukhovskaia ,
Ali Taubes ,
Helene Boudin ,
Sakura S. Minami,
Meredith Reichert ,
Philipp Albrecht ,
Jeffrey M. Gelfand ,
Andres Cruz-Herranz ,
Christian Cordano ,
Marcel V. Alavi ,
Shannon Leslie
and other authors.
This paper is available in a repository.
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Abstract
Individuals with heterozygous GRN mutations exhibit clinicopathological hallmarks of neuronal ceroid lipofuscinosis.