1. Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. (August 2018) Authors: Machol, Keren; Jankovic, Joseph; Vijayakumar, Dhanya; Burrage, Lindsay C.; Jain, Mahim; Lewis, Richard A.; Fuller, Gregory N.; Xu, Mingchu; Penas-Prado, Marta; Gule-Monroe, Maria K.; Rosenfeld, Jill A.; Chen, Rui; Eng, Christine M.; Yang, Yaping; Lee, Brendan H.; Moretti, Paolo M.; Dhar, Shweta U... Journal: Neurology Issue: Volume 4:Number 4(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Chediak-Higashi syndrome: A review of the past, present, and future. (2020) Authors: Sharma, Prashant; Nicoli, Elena-Raluca; Serra-Vinardell, Jenny; Morimoto, Marie; Toro, Camilo; Malicdan, May Christine V.; Introne, Wendy J. Journal: Drug discovery today Issue: Volume 31(2020) Page Start: 31 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Chromatin changes in SMARCAL1 deficiency: A hypothesis for the gene expression alterations of Schimke immuno-osseous dysplasia. (1st November 2016) Authors: Morimoto, Marie; Choi, Kunho; Boerkoel, Cornelius F.; Cho, Kyoung Sang Journal: Nucleus Issue: Volume 7:Number 6(2016) Page Start: 560 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability. Issue 1 (December 2016) Authors: Maduro, Valerie; Pusey, Barbara; Cherukuri, Praveen; Atkins, Paul; du Souich, Christèle; Rupps, Rosemarie; Limbos, Marjolaine; Adams, David; Bhatt, Samarth; Eydoux, Patrice; Links, Amanda; Lehman, Anna; Malicdan, May; Mason, Christopher; Morimoto, Marie; Mullikin, James; Sear, Andrew; Van Karnebe... Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?. Issue 1 (December 2016) Authors: Morimoto, Marie; Myung, Clara; Beirnes, Kimberly; Choi, Kunho; Asakura, Yumi; Bokenkamp, Arend; Bonneau, Dominique; Brugnara, Milena; Charrow, Joel; Colin, Estelle; Davis, Amira; Deschenes, Georges; Gentile, Mattia; Giordano, Mario; Gormley, Andrew; Govender, Rajeshree; Joseph, Mark; Keller, Kory... Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Spermine synthase deficiency causes lysosomal dysfunction and oxidative stress in models of Snyder-Robinson syndrome. Issue 1 (December 2017) Authors: Li, Chong; Brazill, Jennifer; Liu, Sha; Bello, Christofer; Zhu, Yi; Morimoto, Marie; Cascio, Lauren; Pauly, Rini; Diaz-Perez, Zoraida; Malicdan, May; Wang, Hongbo; Boccuto, Luigi; Schwartz, Charles; Gahl, William; Boerkoel, Cornelius; Zhai, R. Grace Journal: Nature communications Issue: Volume 8:Issue 1(2017) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗