Works matching AU Bellen, Hugo J.


Results: 102
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    A Voltage-Gated Calcium Channel Regulates Lysosomal Fusion with Endosomes and Autophagosomes and Is Required for Neuronal Homeostasis.

    Published in:
    PLoS Biology, 2015, v. 13, n. 3, p. 1, doi. 10.1371/journal.pbio.1002103
    By:
    • Tian, Xuejun;
    • Gala, Upasana;
    • Zhang, Yongping;
    • Shang, Weina;
    • Nagarkar Jaiswal, Sonal;
    • di Ronza, Alberto;
    • Jaiswal, Manish;
    • Yamamoto, Shinya;
    • Sandoval, Hector;
    • Duraine, Lita;
    • Sardiello, Marco;
    • Sillitoe, Roy V.;
    • Venkatachalam, Kartik;
    • Fan, Hengyu;
    • Bellen, Hugo J.;
    • Tong, Chao
    Publication type:
    Article
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    Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans.

    Published in:
    PLoS Biology, 2012, v. 10, n. 3, p. 1, doi. 10.1371/journal.pbio.1001288
    By:
    • Bayat, Vafa;
    • Thiffault, Isabelle;
    • Jaiswal, Manish;
    • Tétreault, Martine;
    • Donti, Taraka;
    • Sasarman, Florin;
    • Bernard, Geneviève;
    • Demers-Lamarche, Julie;
    • Dicaire, Marie-Josée;
    • Mathieu, Jean;
    • Vanasse, Michel;
    • Bouchard, Jean-Pierre;
    • Rioux, Marie-France;
    • Lourenco, Charles M.;
    • Zhihong Li;
    • Haueter, Claire;
    • Shoubridge, Eric A.;
    • Graham, Brett H.;
    • Brais, Bernard;
    • Bellen, Hugo J.
    Publication type:
    Article
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    Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features.

    Published in:
    Human Molecular Genetics, 2021, v. 30, n. 14, p. 1283, doi. 10.1093/hmg/ddab110
    By:
    • Luo, Xi;
    • Schoch, Kelly;
    • Jangam, Sharayu V;
    • Bhavana, Venkata Hemanjani;
    • Graves, Hillary K;
    • Kansagra, Sujay;
    • Jasien, Joan M;
    • Stong, Nicholas;
    • Keren, Boris;
    • Mignot, Cyril;
    • Ravelli, Claudia;
    • Network, Undiagnosed Diseases;
    • Bellen, Hugo J;
    • Wangler, Michael F;
    • Shashi, Vandana;
    • Yamamoto, Shinya
    Publication type:
    Article
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    A Notch updated.

    Published in:
    Journal of Cell Biology, 2009, v. 184, n. 5, p. 621, doi. 10.1083/jcb.200811141
    By:
    • Tien, An-Chi;
    • Rajan, Akhila;
    • Bellen, Hugo J.
    Publication type:
    Article
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    Autolysosomal exocytosis of lipids protect neurons from ferroptosis.

    Published in:
    Journal of Cell Biology, 2023, v. 222, n. 6, p. 1, doi. 10.1083/jcb.202207130
    By:
    • Ralhan, Isha;
    • Jinlan Chang;
    • Moulton, Matthew J.;
    • Goodman, Lindsey D.;
    • Lee, Nathanael Y. J.;
    • Plummer, Greg;
    • Pasolli, H. Amalia;
    • Matthies, Doreen;
    • Bellen, Hugo J.;
    • Ioannou, Maria S.
    Publication type:
    Article
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    Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students.

    Published in:
    Journal of Genetic Counseling, 2019, v. 28, n. 2, p. 466, doi. 10.1002/jgc4.1094
    By:
    • Adams, David R.;
    • Aday, Aaron;
    • Alejandro, Mercedes E.;
    • Allard, Patrick;
    • Ashley, Euan A.;
    • Azamian, Mahshid S.;
    • Bacino, Carlos A.;
    • Baker, Eva;
    • Balasubramanyam, Ashok;
    • Barseghyan, Hayk;
    • Batzli, Gabriel F.;
    • Beggs, Alan H.;
    • Behnam, Babak;
    • Bellen, Hugo J.;
    • Bican, Anna;
    • Bick, David P.;
    • Birch, Camille L.;
    • Boone, Braden E.;
    • Bostwick, Bret L.;
    • Briere, Lauren C.
    Publication type:
    Article
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