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Individuals with progranulin haploinsufficiency exhibit features of neuronal ceroid lipofuscinosis.
Ward, Michael E; Chen, Robert; Huang, Hsin-Yi; Ludwig, Connor; Telpoukhovskaia, Maria; Taubes, Ali; Boudin, Helene; Minami, Sakura S; Reichert, Meredith; Albrecht, Philipp; Gelfand, Jeffrey M; Cruz-Herranz, Andres; Cordano, Christian; Alavi, Marcel V; Leslie, Shannon; Seeley, William W; Miller, Bruce L; Bigio, Eileen; Mesulam, Marek-Marsel; Bogyo, Matthew S; Mackenzie, Ian R; Staropoli, John F; Cotman, Susan L; Huang, Eric J; Gan, Li; Green, Ari J.
Affiliation
  • Ward ME; Gladstone Institute of Neurological Disease, Gladstone Institutes, San Francisco, CA 94158, USA.
  • Chen R; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892, USA.
  • Huang HY; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
  • Ludwig C; Gladstone Institute of Neurological Disease, Gladstone Institutes, San Francisco, CA 94158, USA.
  • Telpoukhovskaia M; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
  • Taubes A; Department of Pathology, University of California, San Francisco, San Francisco, CA 94158, USA.
  • Boudin H; Department of Pathology, National Taiwan University Hospital, Taipei City, Taiwan.
  • Minami SS; Gladstone Institute of Neurological Disease, Gladstone Institutes, San Francisco, CA 94158, USA.
  • Reichert M; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
  • Albrecht P; Gladstone Institute of Neurological Disease, Gladstone Institutes, San Francisco, CA 94158, USA.
  • Gelfand JM; Gladstone Institute of Neurological Disease, Gladstone Institutes, San Francisco, CA 94158, USA.
  • Cruz-Herranz A; Department of Pathology, University of California, San Francisco, San Francisco, CA 94158, USA.
  • Cordano C; INSERM UMR 913, Université de Nantes, Nantes, France.
  • Alavi MV; Gladstone Institute of Neurological Disease, Gladstone Institutes, San Francisco, CA 94158, USA.
  • Leslie S; Gladstone Institute of Neurological Disease, Gladstone Institutes, San Francisco, CA 94158, USA.
  • Seeley WW; Department of Neurology, Medical Faculty, Heinrich-Heine University Duesseldorf, Duesseldorf, Germany.
  • Miller BL; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
  • Bigio E; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
  • Mesulam MM; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
  • Bogyo MS; Department of Ophthalmology, University of California, San Francisco, San Francisco, CA 94158, USA.
  • Mackenzie IR; Gladstone Institute of Neurological Disease, Gladstone Institutes, San Francisco, CA 94158, USA.
  • Staropoli JF; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
  • Cotman SL; Department of Neurology, University of California, San Francisco, San Francisco, CA 94158, USA.
  • Huang EJ; Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
  • Gan L; Department of Pathology, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA.
  • Green AJ; Department of Pathology, Stanford Medical School, Palo Alto, CA 94305, USA.
Sci Transl Med ; 9(385)2017 04 12.
Article in En | MEDLINE | ID: mdl-28404863

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Intercellular Signaling Peptides and Proteins / Haploinsufficiency / Neuronal Ceroid-Lipofuscinoses Limits: Animals / Humans Language: En Journal: Sci Transl Med Journal subject: CIENCIA / MEDICINA Year: 2017 Type: Article Affiliation country: United States

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Intercellular Signaling Peptides and Proteins / Haploinsufficiency / Neuronal Ceroid-Lipofuscinoses Limits: Animals / Humans Language: En Journal: Sci Transl Med Journal subject: CIENCIA / MEDICINA Year: 2017 Type: Article Affiliation country: United States