International validation of meaningfulness of postural sway and gait to assess myeloneuropathy in adults with adrenoleukodystrophy
Yska, Hemmo A F, Turk, Bela R, Fatemi, Ali, Goodman, Jordan, Voermans, Marije, Amos, Dan, Amanat, Man, van de Stadt, Stephanie, Engelen, Marc, Smith-Fine, Amena, Keller, Jennifer
Published in Journal of inherited metabolic disease (25.05.2024)
Published in Journal of inherited metabolic disease (25.05.2024)
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Functional analysis of missense DARS2 variants in siblings with leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
Wongkittichote, Parith, Magistrati, Martina, Shimony, Joshua S., Smyser, Christopher D., Fatemi, Seyed Ali, Fine, Amena S., Bellacchio, Emanuele, Dallabona, Cristina, Shinawi, Marwan
Published in Molecular genetics and metabolism (01.08.2022)
Published in Molecular genetics and metabolism (01.08.2022)
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Journal Article
Neuronal ablation of mt-AspRS in mice induces immune pathway activation prior to severe and progressive cortical and behavioral disruption
Nemeth, Christina L., Tomlinson, Sophia N., Rosen, Melissa, O'Brien, Brett M., Larraza, Oscar, Jain, Mahim, Murray, Connor F., Marx, Joel S., Delannoy, Michael, Fine, Amena S., Wu, Dan, Trifunovic, Aleksandra, Fatemi, Ali
Published in Experimental neurology (01.04.2020)
Published in Experimental neurology (01.04.2020)
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Journal Article
Wearable sensors detect impaired gait and coordination in LBSL during remote assessments
Smith Fine, Amena, Kaufman, Miriam, Goodman, Jordan, Turk, Bela, Bastian, Amy, Lin, Doris, Fatemi, Ali, Keller, Jennifer
Published in Annals of clinical and translational neurology (01.04.2022)
Published in Annals of clinical and translational neurology (01.04.2022)
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Journal Article
Reduction in school individualized education program (IEP) services during the COVID-19 pandemic
Chen, Belinda, Rasmussen, Patrick, Legg, Mallory, Alexander, Nicole, Vedmurthy, Pooja, Asiedu, Akua, Bay, Mihee, Belcher, Harolyn, Burton, Vera Joanna, Conlon, Charles, Fine, Amena, Gill, Ryan, Lance, Eboni I., Lipkin, Paul, Wong, Joyce, Wilms Floet, Anna Maria, Doerrer, Sarah C., Glattfelder, Jennifer, Kordek, Amy, Pertman, Julie, Murray, Rachel, Zabel, T. Andrew, Comi, Anne M., Leppert, Mary L.
Published in Frontiers in rehabilitation sciences (26.09.2022)
Published in Frontiers in rehabilitation sciences (26.09.2022)
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Pandemic intake questionnaire to improve quality, effectiveness, and efficiency of outpatient neurologic and developmental care at the Kennedy Krieger institute during the COVID-19 pandemic
Vedmurthy, Pooja, Murray, Connor, Chen, Belinda, Asiedu, Akua, Baranano, Kristin, Bay, Mihee, Belcher, Harolyn, Burton, Vera, Conlon, Charles, Fine, Amena, Gill, Ryan, Harris, Jacqueline, Hart, Khaylynn, Inches, Shannon, Johnson, Jennifer, Lance, Eboni, Lipkin, Paul H., Menon, Deepa U., McIntyre, Tiffany, Rajaprakash, Meghna, Recio, Albert, Singer, Harvey S., Smegal, Lindsay, Smith-Hicks, Constance L., Vernon, Hilary, Wilms Floet, Anna Maria, Wong, Joyce, Yelin, Karina, Leppert, Mary L. O’Connor, Zabel, T. Andrew, Comi, Anne M.
Published in Frontiers in rehabilitation sciences (06.10.2022)
Published in Frontiers in rehabilitation sciences (06.10.2022)
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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
Kayumi, Sayaka, Pérez-Jurado, Luis A., Palomares, María, Rangu, Sneha, Sheppard, Sarah E., Chung, Wendy K., Kruer, Michael C., Kharbanda, Mira, Amor, David J., McGillivray, George, Cohen, Julie S., García-Miñaúr, Sixto, van Eyk, Clare L., Harper, Kelly, Jolly, Lachlan A., Webber, Dani L., Barnett, Christopher P., Santos-Simarro, Fernando, Pacio-Míguez, Marta, Pozo, Angela del, Bakhtiari, Somayeh, Deardorff, Matthew, Dubbs, Holly A., Izumi, Kosuke, Grand, Katheryn, Gray, Christopher, Mark, Paul R., Bhoj, Elizabeth J., Li, Dong, Ortiz-Gonzalez, Xilma R., Keena, Beth, Zackai, Elaine H., Goldberg, Ethan M., Perez de Nanclares, Guiomar, Pereda, Arrate, Llano-Rivas, Isabel, Arroyo, Ignacio, Fernández-Cuesta, María Ángeles, Thauvin-Robinet, Christel, Faivre, Laurence, Garde, Aurore, Mazel, Benoit, Bruel, Ange-Line, Tress, Michael L., Brilstra, Eva, Fine, Amena Smith, Crompton, Kylie E., Stegmann, Alexander P.A., Sinnema, Margje, Stevens, Servi C.J., Nicolai, Joost, Lesca, Gaetan, Lion-François, Laurence, Haye, Damien, Chatron, Nicolas, Piton, Amelie, Nizon, Mathilde, Cogne, Benjamin, Srivastava, Siddharth, Bassetti, Jennifer, Muss, Candace, Gripp, Karen W., Procopio, Rebecca A., Millan, Francisca, Morrow, Michelle M., Assaf, Melissa, Moreno-De-Luca, Andres, Joss, Shelagh, Hamilton, Mark J., Bertoli, Marta, Foulds, Nicola, McKee, Shane, MacLennan, Alastair H., Gecz, Jozef, Corbett, Mark A.
Published in Genetics in medicine (01.11.2022)
Published in Genetics in medicine (01.11.2022)
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Journal Article
Mutations in DARS2 result in global dysregulation of mRNA metabolism and splicing
Guang, Shiqi, O'Brien, Brett, Fine, Amena Smith, Ying, Mingyao, Fatemi, Ali, Nemeth, Christina
Published in Research square (27.02.2023)
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Published in Research square (27.02.2023)
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