Evaluation of disease progression in INCL by MR spectroscopy

por Baker, Eva H, Levin, Sondra W, Zhang, Zhongjian, Mukherjee, Anil B
Publicado 2015

Brain and behavior in 48, XXYY syndrome

por Hanley, Alli P., Blumenthal, Jonathan D., Raitano Lee, Nancy, Baker, Eva H., Clasen, Liv S., Giedd, Jay N.
Publicado 2015

Brain morphological abnormalities in 49,XXXXY syndrome: A pediatric magnetic resonance imaging study()()

por Blumenthal, Jonathan D., Baker, Eva H., Lee, Nancy Raitano, Wade, Benjamin, Clasen, Liv S., Lenroot, Rhoshel K., Giedd, Jay N.
Publicado 2013

CNS manifestations in patients with telomere biology disorders

por Bhala, Sonia, Best, Ana F., Giri, Neelam, Alter, Blanche P., Pao, Maryland, Gropman, Andrea, Baker, Eva H., Savage, Sharon A.
Publicado 2019

Neurofilament Light Chain Levels Correlate with Clinical Measures in CLN3 Disease

por Dang Do, An N., Sinaii, Ninet, Masvekar, Ruturaj R., Baker, Eva H., Thurm, Audrey E., Soldatos, Ariane G., Bianconi, Simona E., Bielekova, Bibiana, Porter, Forbes D.
Publicado 2020

Role of Diffusion Tensor Imaging in Prognostication and Treatment Monitoring in Niemann-Pick Disease Type C1

por Lau, Meghann W., Lee, Ryan W., Miyamoto, Robin, Jung, Eun Sol, Yanjanin Farhat, Nicole, Yoshida, Shoko, Mori, Susumu, Gropman, Andrea, Baker, Eva H., Porter, Forbes D.
Publicado 2016

Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency

por Grunseich, Christopher, Schindler, Alice B., Chen, Ke-lian, Bakar, Dara, Mankodi, Ami, Traslavina, Ryan, Ray-Chaudhury, Abhik, Lehky, Tanya J., Baker, Eva H., Maragakis, Nicholas J., Tifft, Cynthia J., Fischbeck, Kenneth H.
Publicado 2015

Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants

por Johnston, Jennifer J., van der Smagt, Jasper J., Rosenfeld, Jill A., Pagnamenta, Alistair T., Alswaid, Abdulrahman, Baker, Eva H., Blair, Edward, Borck, Guntram, Brinkmann, Julia, Craigen, William, Dung, Vu Chi, Emrick, Lisa, Everman, David B., van Gassen, Koen L., Gulsuner, Suleyman, Harr, Margaret H., Jain, Mahim, Kuechler, Alma, Leppig, Kathleen A., McDonald-McGinn, Donna M., Ngoc, Can Thi Bich, Peleg, Amir, Roeder, Elizabeth R., Rogers, R. Curtis, Sagi-Dain, Lena, Sapp, Julie C., Schäffer, Alejandro A., Schanze, Denny, Stewart, Helen, Taylor, Jenny C., Verbeek, Nienke E., Walkiewicz, Magdalena A., Zackai, Elaine H., Zweier, Christiane, Zenker, Martin, Lee, Brendan, Biesecker, Leslie G.
Publicado 2018