Research ArticleNeurodegenerative Disease

Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis

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Science Translational Medicine  12 Apr 2017:
Vol. 9, Issue 385, eaah5642
DOI: 10.1126/scitranslmed.aah5642

Article Information

vol. 9 no. 385

PubMed: 
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History: 
  • Received for publication October 8, 2014
  • Resubmitted July 14, 2016
  • Accepted for publication November 21, 2016
  • .

Author Information

  1. Michael E. Ward1,2,3,
  2. Robert Chen1,3,
  3. Hsin-Yi Huang4,5,
  4. Connor Ludwig1,3,
  5. Maria Telpoukhovskaia1,
  6. Ali Taubes1,
  7. Helene Boudin4,6,
  8. Sakura S. Minami1,
  9. Meredith Reichert1,
  10. Philipp Albrecht7,
  11. Jeffrey M. Gelfand3,
  12. Andres Cruz-Herranz3,
  13. Christian Cordano3,
  14. Marcel V. Alavi8,
  15. Shannon Leslie1,
  16. William W. Seeley3,
  17. Bruce L. Miller3,
  18. Eileen Bigio9,
  19. Marek-Marsel Mesulam9,
  20. Matthew S. Bogyo10,
  21. Ian R. Mackenzie11,
  22. John F. Staropoli12,
  23. Susan L. Cotman12,
  24. Eric J. Huang4,13,
  25. Li Gan1,3,* and
  26. Ari J. Green3,8,*
  1. 1Gladstone Institute of Neurological Disease, Gladstone Institutes, San Francisco, CA 94158, USA.
  2. 2National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
  3. 3Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
  4. 4Department of Pathology, University of California, San Francisco, San Francisco, CA 94158, USA.
  5. 5Department of Pathology, National Taiwan University Hospital, Taipei City, Taiwan.
  6. 6INSERM UMR 913, Université de Nantes, Nantes, France.
  7. 7Department of Neurology, Medical Faculty, Heinrich-Heine University Duesseldorf, Duesseldorf, Germany.
  8. 8Department of Ophthalmology, University of California, San Francisco, San Francisco, CA 94158, USA.
  9. 9Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
  10. 10Department of Pathology, Stanford Medical School, Palo Alto, CA 94305, USA.
  11. 11Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, Canada.
  12. 12Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.
  13. 13Pathology Service, Veterans Affairs Medical Center, San Francisco, CA 94141, USA.
  1. *Corresponding author. Email: lgan{at}gladstone.ucsf.edu (L.G.); agreen{at}ucsf.edu (A.J.G.)

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