Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation
Lam, Christina, Ferreira, Carlos, Krasnewich, Donna, Toro, Camilo, Latham, Lea, Zein, Wadih M., Lehky, Tanya, Brewer, Carmen, Baker, Eva H., Thurm, Audrey, Farmer, Cristan A., Rosenzweig, Sergio D., Lyons, Jonathan J., Schreiber, John M., Gropman, Andrea, Lingala, Shilpa, Ghany, Marc G., Solomon, Beth, Macnamara, Ellen, Davids, Mariska, Stratakis, Constantine A., Kimonis, Virginia, Gahl, William A., Wolfe, Lynne
Published in Genetics in medicine (01.02.2017)
Published in Genetics in medicine (01.02.2017)
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Oral cysteamine bitartrate and N-acetylcysteine for patients with infantile neuronal ceroid lipofuscinosis: a pilot study
Levin, Sondra W, MD, Baker, Eva H, PhD, Zein, Wadih M, MD, Zhang, Zhongjian, MD, Quezado, Zenaide M N, MD, Miao, Ning, MD, Gropman, Andrea, MD, Griffin, Kurt J, MD, Bianconi, Simona, MD, Chandra, Goutam, PhD, Khan, Omar I, MD, Caruso, Rafael C, MD, Liu, Aiyi, PhD, Mukherjee, Anil B, Dr
Published in Lancet neurology (01.08.2014)
Published in Lancet neurology (01.08.2014)
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Neurocognitive phenotype of isolated methylmalonic acidemia
O'Shea, Colin J, Sloan, Jennifer L, Wiggs, Edythe A, Pao, Maryland, Gropman, Andrea, Baker, Eva H, Manoli, Irini, Venditti, Charles P, Snow, Joseph
Published in Pediatrics (Evanston) (01.06.2012)
Published in Pediatrics (Evanston) (01.06.2012)
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Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors
Lam, Christina, Golas, Gretchen A., Davids, Mariska, Huizing, Marjan, Kane, Megan S., Krasnewich, Donna M., Malicdan, May Christine V., Adams, David R., Markello, Thomas C., Zein, Wadih M., Gropman, Andrea L., Lodish, Maya B., Stratakis, Constantine A., Maric, Irina, Rosenzweig, Sergio D., Baker, Eva H., Ferreira, Carlos R., Danylchuk, Noelle R., Kahler, Stephen, Garnica, Adolfo D., Bradley Schaefer, G., Boerkoel, Cornelius F., Gahl, William A., Wolfe, Lynne A.
Published in Molecular genetics and metabolism (01.06.2015)
Published in Molecular genetics and metabolism (01.06.2015)
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Long-Term Follow-Up of CD19-CAR T-Cell Therapy in Children and Young Adults With B-ALL
Shah, Nirali N, Lee, Daniel W, Yates, Bonnie, Yuan, Constance M, Shalabi, Haneen, Martin, Staci, Wolters, Pamela L, Steinberg, Seth M, Baker, Eva H, Delbrook, Cindy P, Stetler-Stevenson, Maryalice, Fry, Terry J, Stroncek, David F, Mackall, Crystal L
Published in Journal of clinical oncology (20.05.2021)
Published in Journal of clinical oncology (20.05.2021)
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Corpus Callosum Diffusion Tensor Imaging and Volume Measures Are Associated With Disease Severity in Pediatric Niemann-Pick Disease Type C1
Lee, Ryan, MD, Apkarian, Kalyna, BS, Jung, Eun Sol, MAc, Yanjanin, Nicole, MSN, Yoshida, Shoko, MD, Mori, Susumu, PhD, Park, Jina, BS, Gropman, Andrea, MD, Baker, Eva H., MD, PhD, Porter, Forbes D., MD, PhD
Published in Pediatric neurology (01.11.2014)
Published in Pediatric neurology (01.11.2014)
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Brain and behavior in 48, XXYY syndrome
Hanley, Alli P, Blumenthal, Jonathan D, Lee, Nancy Raitano, Baker, Eva H, Clasen, Liv S, Giedd, Jay N
Published in NeuroImage clinical (01.01.2015)
Published in NeuroImage clinical (01.01.2015)
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Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants
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, Can, Ngoc 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
Published in Genetics in medicine (01.10.2018)
Published in Genetics in medicine (01.10.2018)
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Long-term follow-up after lymphodepleting autologous haematopoietic cell transplantation for treatment-resistant systemic lupus erythematosus
Goklemez, Sencer, Hasni, Sarfaraz, Hakim, Frances T, Muraro, Paolo A, Pirsl, Filip, Rose, Jeremy, Memon, Sarfraz, Fowler, Daniel F, Steinberg, Seth M, Baker, Eva H, Panch, Sandya R, Gress, Ronald, Illei, Gabor G, Lipsky, Peter E, Pavletic, Steven Z
Published in Rheumatology (Oxford, England) (03.08.2022)
Published in Rheumatology (Oxford, England) (03.08.2022)
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Role of Diffusion Tensor Imaging in Prognostication and Treatment Monitoring in Niemann-Pick Disease Type C1
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
Published in Diseases (08.09.2016)
Published in Diseases (08.09.2016)
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Neurofilament light chain levels correlate with clinical measures in CLN3 disease
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.
Published in Genetics in medicine (01.04.2021)
Published in Genetics in medicine (01.04.2021)
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GM1 gangliosidosis type II: Results of a 10-year prospective study
D’Souza, Precilla, Farmer, Cristan, Johnston, Jean M., Han, Sangwoo T., Adams, David, Hartman, Adam L., Zein, Wadih, Huryn, Laryssa A., Solomon, Beth, King, Kelly, Jordan, Christopher P., Myles, Jennifer, Nicoli, Elena-Raluca, Rothermel, Caroline E., Mojica Algarin, Yoliann, Huang, Reyna, Quimby, Rachel, Zainab, Mosufa, Bowden, Sarah, Crowell, Anna, Buckley, Ashura, Brewer, Carmen, Regier, Debra S., Brooks, Brian P., Acosta, Maria T., Baker, Eva H., Vézina, Gilbert, Thurm, Audrey, Tifft, Cynthia J.
Published in Genetics in medicine (01.07.2024)
Published in Genetics in medicine (01.07.2024)
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Brain proton MR spectroscopy measurements in CLN3 disease
Dang Do, An N., Baker, Eva H., Farmer, Cristan A., Soldatos, Ariane G., Thurm, Audrey E., Porter, Forbes D.
Published in Molecular genetics and metabolism (01.05.2023)
Published in Molecular genetics and metabolism (01.05.2023)
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Late diagnosis and atypical brain imaging of Aicardi–Goutières syndrome: are we failing to diagnose Aicardi–Goutières syndrome‐2?
Svingen, Leah, Goheen, Mitchell, Godfrey, Rena, Wahl, Colleen, Baker, Eva H, Gahl, William A, Malicdan, May Christine V, Toro, Camilo
Published in Developmental medicine and child neurology (01.12.2017)
Published in Developmental medicine and child neurology (01.12.2017)
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Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome
Soldatos, Ariane, Nutman, Thomas B, Johnson, Tory, Dowell, Scott F, Sejvar, James J, Wilson, Michael R, DeRisi, Joseph L, Inati, Sara K, Groden, Catherine, Evans, Colleen, O’Connell, Elise M, Toliva, Bernard Opar, Aceng, Jane R, Aryek-Kwe, Josephine, Toro, Camilo, Stratakis, Constantine A, Buckler, A Gretchen, Cantilena, Cathy, Palmore, Tara N, Thurm, Audrey, Baker, Eva H, Chang, Richard, Fauni, Harper, Adams, David, Macnamara, Ellen F, Lau, C Christopher, Malicdan, May Christine V, Pusey-Swerdzewski, Barbara, Downing, Robert, Bunga, Sudhir, Thomas, Jerry D, Gahl, William A, Nath, Avindra
Published in Brain (London, England : 1878) (01.03.2023)
Published in Brain (London, England : 1878) (01.03.2023)
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Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients
Nicoli, Elena-Raluca, Huebecker, Mylene, Han, Sangwoo T., Garcia, Karolyn, Munasinghe, Jeeva, Lizak, Martin, Latour, Yvonne, Yoon, Robin, Glase, Brianna, Tyrlik, Michal, Peiravi, Morteza, Springer, Danielle, Baker, Eva H., Priestman, David, Sidhu, Rohini, Kell, Pamela, Jiang, Xuntian, Kolstad, Josephine, Kuhn, Anna Luisa, Shazeeb, Mohammed Salman, Acosta, Maria T., Proia, Richard L., Platt, Frances M., Tifft, Cynthia J.
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Seizure phenotype in CLN3 disease and its relation to other neurologic outcome measures
Abdennadher, Myriam, Inati, Sara, Soldatos, Ariane, Norato, Gina, Baker, Eva H., Thurm, Audrey, Bartolini, Luca, Masvekar, Ruturaj, Theodore, William, Bielekova, Bibiana, Porter, Forbes D., Dang Do, An N.
Published in Journal of inherited metabolic disease (01.07.2021)
Published in Journal of inherited metabolic disease (01.07.2021)
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Neoadjuvant chemotherapy of locally advanced breast cancer: predicting response with in vivo (1)H MR spectroscopy--a pilot study at 4 T
Meisamy, Sina, Bolan, Patrick J, Baker, Eva H, Bliss, Robin L, Gulbahce, Evin, Everson, Lenore I, Nelson, Michael T, Emory, Tim H, Tuttle, Todd M, Yee, Douglas, Garwood, Michael
Published in Radiology (01.11.2004)
Published in Radiology (01.11.2004)
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