CLN3 is required for the clearance of glycerophosphodiesters from lysosomes
Laqtom, Nouf N., Dong, Wentao, Medoh, Uche N., Cangelosi, Andrew L., Dharamdasani, Vimisha, Chan, Sze Ham, Kunchok, Tenzin, Lewis, Caroline A., Heinze, Ivonne, Tang, Rachel, Grimm, Christian, Dang Do, An N., Porter, Forbes D., Ori, Alessandro, Sabatini, David M., Abu-Remaileh, Monther
Published in Nature (London) (29.09.2022)
Published in Nature (London) (29.09.2022)
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Journal Article
Anesthesia outcomes in lysosomal disorders: CLN3 and GM1 gangliosidosis
Luckett, Amelia, Yousef, Muhammad, Tifft, Cynthia, Jenkins, Kisha, Smith, Andrew, Munoz, Andrea, Quimby, Rachel, Porter, Forbes D., Dang Do, An Ngoc
Published in American journal of medical genetics. Part A (01.03.2023)
Published in American journal of medical genetics. Part A (01.03.2023)
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Journal Article
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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Journal Article
Use of the Vineland‐3, a measure of adaptive functioning, in CLN3
Dang Do, An N., Thurm, Audrey E., Farmer, Cristan A., Soldatos, Ariane G., Chlebowski, Colby E., O'Reilly, Julie K., Porter, Forbes D.
Published in American journal of medical genetics. Part A (01.04.2022)
Published in American journal of medical genetics. Part A (01.04.2022)
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Journal Article
Six induced pluripotent stem cell lines from fibroblasts of individuals with CLN3-related conditions
Dwojak, Ewelina, O’Mard, Danielle, Zou, Jizhong, Wassif, Christopher A., Burkett, Sandra, Eckhaus, Michael, Rueda Faucz, Fabio, Padilla, Cameron, Villasmil, Rafael, Zheng, Wei, Dang Do, An N.
Published in Stem cell research (01.12.2024)
Published in Stem cell research (01.12.2024)
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Journal Article
Elevated oxysterol and N‐palmitoyl‐O‐phosphocholineserine levels in congenital disorders of glycosylation
Dang Do, An N., Chang, Irene J., Jiang, Xutian, Wolfe, Lynne A., Ng, Bobby G., Lam, Christina, Schnur, Rhonda E., Allis, Katrina, Hansikova, Hana, Ondruskova, Nina, O'Connor, Shawn D., Sanchez‐Valle, Amarilis, Vollo, Arve, Wang, Raymond Y., Wolfenson, Zoe, Perreault, John, Ory, Daniel S., Freeze, Hudson H., Merritt, J. Lawrence, Porter, Forbes D.
Published in Journal of inherited metabolic disease (01.03.2023)
Published in Journal of inherited metabolic disease (01.03.2023)
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Journal Article
Evaluation of age of death in Niemann-Pick disease, type C: Utility of disease support group websites to understand natural history
Bianconi, Simona E., Hammond, Dylan I., Farhat, Nicole Y., Dang Do, An, Jenkins, Kisha, Cougnoux, Antony, Martin, Kyle, Porter, Forbes D.
Published in Molecular genetics and metabolism (01.04.2019)
Published in Molecular genetics and metabolism (01.04.2019)
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Journal Article
Osteogenesis Imperfecta: The Impact of Genotype and Clinical Phenotype on Adiposity and Resting Energy Expenditure
Ballenger, Kaitlin L, Tugarinov, Nicol, Talvacchio, Sara K, Knue, Marianne M, Dang Do, An N, Ahlman, Mark A, Reynolds, James C, Yanovski, Jack A, Marini, Joan C
Published in The journal of clinical endocrinology and metabolism (01.01.2022)
Published in The journal of clinical endocrinology and metabolism (01.01.2022)
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Journal Article
Cerebrospinal Fluid Protein Biomarker Discovery in CLN3
Dang Do, An N., Sleat, David E., Campbell, Kiersten, Johnson, Nicholas L., Zheng, Haiyan, Wassif, Christopher A., Dale, Ryan K., Porter, Forbes D.
Published in Journal of proteome research (07.07.2023)
Published in Journal of proteome research (07.07.2023)
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Journal Article
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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Journal Article
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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Journal Article
Spontaneously regressing brain lesions in Smith–Lemli–Opitz syndrome
Dang Do, An N., Baker, Eva H., Warren, Katherine E., Bianconi, Simona E., Porter, Forbes D.
Published in American journal of medical genetics. Part A (01.02.2018)
Published in American journal of medical genetics. Part A (01.02.2018)
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Journal Article
Pulmonary function and structure abnormalities in children and young adults with osteogenesis imperfecta point to intrinsic and extrinsic lung abnormalities
Gochuico, Bernadette R, Hossain, Mahin, Talvacchio, Sara K, Zuo, Mei Xing G, Barton, Mark, Dang Do, An Ngoc, Marini, Joan C
Published in Journal of medical genetics (01.11.2023)
Published in Journal of medical genetics (01.11.2023)
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Journal Article
Elevated amyloid beta peptides and total tau in cerebrospinal fluid in individuals with Creatine transporter deficiency
Rahhal, Samar, Farmer, Cristan, Thurm, Audrey, Wassif, Christopher A., Cawley, Niamh X., Perreault, John, Dang Do, An, Bianconi, Simona, Hannah-Shmouni, Fady, Guthrie, Whitney, Cubit, Laura S., Miller, Judith S., Sutton, V. Reid, Koeberl, Dwight, Porter, Forbes D.
Published in Molecular genetics and metabolism reports (01.12.2023)
Published in Molecular genetics and metabolism reports (01.12.2023)
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Journal Article
Characterizing upper limb function in the context of activities of daily living in CLN3 disease
Hildenbrand, Hanna, Wickstrom, Jordan, Parks, Rebecca, Zampieri, Cris, Nguyen, Thuy‐Tien, Thurm, Audrey, Jenkins, Kisha, Alter, Katharine E., Matsubara, Jesse, Hammond, Dylan, Soldatos, Ariane, Porter, Forbes D., Dang Do, An N.
Published in American journal of medical genetics. Part A (01.05.2021)
Published in American journal of medical genetics. Part A (01.05.2021)
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Journal Article
Research and publication trends in hospital medicine
Do, An N. Dang, Munchhof, Amy M., Terry, Colin, Emmett, Thomas, Kara, Areeba
Published in Journal of hospital medicine (01.03.2014)
Published in Journal of hospital medicine (01.03.2014)
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Journal Article
Trends in Socioeconomic Inequalities in Full Vaccination Coverage among Vietnamese Children aged 12-23 Months, 2000-2014: Evidence for Mitigating Disparities in Vaccination
Vo, Hoang-Long, Huynh, Le-Thai-Bao, Anh, Hao Nguyen Si, Do, Dang-An, Doan, Thi-Ngoc-Ha, Nguyen, Thi-Huyen-Trang, Nguyen Van, Huy
Published in Vaccines (Basel) (18.11.2019)
Published in Vaccines (Basel) (18.11.2019)
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Journal Article
Longitudinal growth curves for children with classical osteogenesis imperfecta (types III and IV) caused by structural pathogenic variants in type I collagen
Barber, Lauren A., Abbott, Craig, Nakhate, Vihang, Do, An N. Dang, Blissett, Angela R., Marini, Joan C.
Published in Genetics in medicine (01.05.2019)
Published in Genetics in medicine (01.05.2019)
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Journal Article
Elevated cerebrospinal fluid ubiquitin C-terminal hydrolase-L1 levels correlate with phenotypic severity and therapeutic response in Niemann-Pick disease, type C1
Cawley, Niamh X., Giddens, Spencer, Farhat, Nicole M., Luke, Rachel A., Scott, Katelin E.J., Mohamed, Hibaaq O., Dang Do, An, Berry-Kravis, Elizabeth, Cologna, Stephanie M., Liu, Fang, Porter, Forbes D.
Published in Molecular genetics and metabolism (01.11.2023)
Published in Molecular genetics and metabolism (01.11.2023)
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Journal Article