A preclinical trial of sialic acid metabolites on distal myopathy with rimmed vacuoles/ hereditary inclusion body myopathy, a sugar-deficient myopathy: a review

by May Christine V. Malicdan, Satoru Noguchi, Ichizo Nishino
Published 2010-03-01

Automated Digital Quantification of Pulmonary Fibrosis in Human Histopathology Specimens

by Lauren C. Testa, Yvon Jule, Linnea Lundh, Karine Bertotti, Melissa A. Merideth, Kevin J. O'Brien, Steven D. Nathan, Drew C. Venuto, Souheil El-Chemaly, May Christine V. Malicdan, May Christine V. Malicdan, Bernadette R. Gochuico
Published 2021-06-01

Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report

by Joshi Stephen, Sheela Nampoothiri, K. P. Vinayan, Dhanya Yesodharan, Preetha Remesh, William A. Gahl, May Christine V. Malicdan
Published 2018-05-01

Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.

by Kazunari Momma, Satoru Noguchi, May Christine V Malicdan, Yukiko K Hayashi, Narihiro Minami, Keiko Kamakura, Ikuya Nonaka, Ichizo Nishino
Published 2012-01-01

Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

by Bradley Power, Carlos R. Ferreira, Dong Chen, Wadih M. Zein, Kevin J. O’Brien, Wendy J. Introne, Joshi Stephen, William A. Gahl, Marjan Huizing, May Christine V. Malicdan, David R. Adams, Bernadette R. Gochuico
Published 2019-02-01

Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.

by Prashant Sharma, Marie Reichert, Yan Lu, Thomas C Markello, David R Adams, Peter J Steinbach, Brie K Fuqua, Xenia Parisi, Stephen G Kaler, Christopher D Vulpe, Gregory J Anderson, William A Gahl, May Christine V Malicdan
Published 2019-05-01

Cellular and molecular defects in a patient with Hermansky-Pudlak syndrome type 5.

by Joshi Stephen, Tadafumi Yokoyama, Nathanial J Tolman, Kevin J O'Brien, Elena-Raluca Nicoli, Brian P Brooks, Laryssa Huryn, Steven A Titus, David R Adams, Dong Chen, William A Gahl, Bernadette R Gochuico, May Christine V Malicdan
Published 2017-01-01

Correction: ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.

by Yihan Zhang, Haigen Huang, Gexin Zhao, Tadafumi Yokoyama, Hugo Vega, Yan Huang, Raman Sood, Kevin Bishop, Valerie Maduro, John Accardi, Camilo Toro, Cornelius F Boerkoel, Karen Lyons, William A Gahl, Xiaohong Duan, May Christine V Malicdan, Shuo Lin
Published 2017-02-01

ATP6V1H Deficiency Impairs Bone Development through Activation of MMP9 and MMP13.

by Yihan Zhang, Haigen Huang, Gexin Zhao, Tadafumi Yokoyama, Hugo Vega, Yan Huang, Raman Sood, Kevin Bishop, Valerie Maduro, John Accardi, Camilo Toro, Cornelius F Boerkoel, Karen Lyons, William A Gahl, Xiaohong Duan, May Christine V Malicdan, Shuo Lin
Published 2017-02-01

Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

by Chong Li, Jennifer M. Brazill, Sha Liu, Christofer Bello, Yi Zhu, Marie Morimoto, Lauren Cascio, Rini Pauly, Zoraida Diaz-Perez, May Christine V. Malicdan, Hongbo Wang, Luigi Boccuto, Charles E. Schwartz, William A. Gahl, Cornelius F. Boerkoel, R. Grace Zhai
Published 2017-11-01

Publisher Correction: Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome

by Chong Li, Jennifer M. Brazill, Sha Liu, Christofer Bello, Yi Zhu, Marie Morimoto, Lauren Cascio, Rini Pauly, Zoraida Diaz-Perez, May Christine V. Malicdan, Hongbo Wang, Luigi Boccuto, Charles E. Schwartz, William A. Gahl, Cornelius F. Boerkoel, R. Grace Zhai
Published 2018-01-01

CB1R and iNOS are distinct players promoting pulmonary fibrosis in Hermansky–Pudlak syndrome

by Resat Cinar, Joshua K. Park, Charles N. Zawatsky, Nathan J. Coffey, Steven P. Bodine, Jasmina Abdalla, Tadafumi Yokoyama, Tony Jourdan, Lindsey Jay, Mei Xing G. Zuo, Kevin J. O'Brien, Junfeng Huang, Ken Mackie, Asaf Alimardanov, Malliga R. Iyer, William A. Gahl, George Kunos, Bernadette R. Gochuico, May Christine V. Malicdan
Published 2021-07-01

Correction: yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.

by Bernardo Blanco-Sánchez, Aurélie Clément, Sarah J Stednitz, Jennifer Kyle, Judy L Peirce, Marcie McFadden, Jeremy Wegner, Jennifer B Phillips, Ellen Macnamara, Yan Huang, David R Adams, Camilo Toro, William A Gahl, May Christine V Malicdan, Cynthia J Tifft, Erika M Zink, Kent J Bloodsworth, Kelly G Stratton, Undiagnosed Diseases Network, David M Koeller, Thomas O Metz, Philip Washbourne, Monte Westerfield
Published 2020-10-01

yippee like 3 (ypel3) is a novel gene required for myelinating and perineurial glia development.

by Bernardo Blanco-Sánchez, Aurélie Clément, Sara J Stednitz, Jennifer Kyle, Judy L Peirce, Marcie McFadden, Jeremy Wegner, Jennifer B Phillips, Ellen Macnamara, Yan Huang, David R Adams, Camilo Toro, William A Gahl, May Christine V Malicdan, Cynthia J Tifft, Erika M Zink, Kent J Bloodsworth, Kelly G Stratton, Undiagnosed Diseases Network, David M Koeller, Thomas O Metz, Philip Washbourne, Monte Westerfield
Published 2020-06-01

Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience

by Timothy Gall, Timothy Gall, Elise Valkanas, Christofer Bello, Thomas Markello, Christopher Adams, William P. Bone, Alexander J. Brandt, Jennifer M. Brazill, Lynn Carmichael, Mariska Davids, Joie Davis, Zoraida Diaz-Perez, David Draper, David Draper, Jeremy Elson, Elise D. Flynn, Rena Godfrey, Catherine Groden, Cheng-Kang Hsieh, Roxanne Fischer, Gretchen A. Golas, Jessica Guzman, Yan Huang, Megan S. Kane, Elizabeth Lee, Chong Li, Amanda E. Links, Valerie Maduro, May Christine V. Malicdan, Fayeza S. Malik, Michele Nehrebecky, Joun Park, Paul Pemberton, Katherine Schaffer, Dimitre Simeonov, Murat Sincan, Damian Smedley, Zaheer Valivullah, Colleen Wahl, Nicole Washington, Lynne A. Wolfe, Lynne A. Wolfe, Karen Xu, Yi Zhu, William A. Gahl, William A. Gahl, Cynthia J. Tifft, Cynthia J. Tifft, Camillo Toro, David R. Adams, David R. Adams, Miao He, Miao He, Peter N. Robinson, Melissa A. Haendel, R. Grace Zhai, Cornelius F. Boerkoel
Published 2017-05-01