Brain Branched-Chain Amino Acids in Maple Syrup Urine Disease: Implications for Neurological Disorders

por Xu, Jing, Jakher, Youseff, Ahrens-Nicklas, Rebecca C.
Publicado 2020

Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification

por Schlotawa, Lars, Adang, Laura A., Radhakrishnan, Karthikeyan, Ahrens-Nicklas, Rebecca C.
Publicado 2020

Rapid and definitive treatment of phenylketonuria in variant-humanized mice with corrective editing

por Brooks, Dominique L., Carrasco, Manuel J., Qu, Ping, Peranteau, William H., Ahrens-Nicklas, Rebecca C., Musunuru, Kiran, Alameh, Mohamad-Gabriel, Wang, Xiao
Publicado 2023

Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement

por Degnan, Andrew J., Ho-Fung, Victor M., Ahrens-Nicklas, Rebecca C., Barrera, Christian A., Serai, Suraj D., Wang, Dah-Jyuu, Ficicioglu, Can
Publicado 2019

Characterizing asparagine synthetase deficiency variants in lymphoblastoid cell lines

por Staklinski, Stephen J., Chang, Mario C., Ahrens‐Nicklas, Rebecca C., Kaur, Shagun, Stefanatos, Arianna K., Dudenhausen, Elizabeth E., Merritt, Matthew E., Kilberg, Michael S.
Publicado 2023

The Importance of Succinylacetone: Tyrosinemia Type I Presenting with Hyperinsulinism and Multiorgan Failure Following Normal Newborn Screening

por Priestley, Jessica R. C., Alharbi, Hana, Callahan, Katharine Press, Guzman, Herodes, Payan-Walters, Irma, Smith, Ligia, Ficicioglu, Can, Ganetzky, Rebecca D., Ahrens-Nicklas, Rebecca C.
Publicado 2020

Postnatal Arx transcriptional activity regulates functional properties of PV interneurons

por Joseph, Donald J., Von Deimling, Markus, Hasegawa, Yuiko, Cristancho, Ana G., Ahrens-Nicklas, Rebecca C., Rogers, Stephanie L., Risbud, Rashmi, McCoy, Almedia J., Marsh, Eric D.
Publicado 2020

Newborn Screening for Pompe Disease: Pennsylvania Experience

por Ficicioglu, Can, Ahrens-Nicklas, Rebecca C., Barch, Joshua, Cuddapah, Sanmati R., DiBoscio, Brenda S., DiPerna, James C., Gordon, Patricia L., Henderson, Nadene, Menello, Caitlin, Luongo, Nicole, Ortiz, Damara, Xiao, Rui
Publicado 2020

Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1

por Ahrens-Nicklas, Rebecca C., Umanah, George K.E., Sondheimer, Neal, Deardorff, Matthew A., Wilkens, Alisha B., Conlin, Laura K., Santani, Avni B., Nesbitt, Addie, Juulsola, Jane, Ma, Erica, Dawson, Ted M., Dawson, Valina L., Marsh, Eric D.
Publicado 2017

Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania

por Priestley, Jessica R. C., Adang, Laura A., Drewes Williams, Sarah, Lichter-Konecki, Uta, Menello, Caitlin, Engelhardt, Nicole M., DiPerna, James C., DiBoscio, Brenda, Ahrens-Nicklas, Rebecca C., Edmondson, Andrew C., Reynoso Santos, Francis Jeshira, Ficicioglu, Can
Publicado 2022

Disruption of cardiac thin filament assembly arising from a mutation in LMOD2: A novel mechanism of neonatal dilated cardiomyopathy

por Ahrens-Nicklas, Rebecca C., Pappas, Christopher T., Farman, Gerrie P., Mayfield, Rachel M., Larrinaga, Tania M., Medne, Livija, Ritter, Alyssa, Krantz, Ian D., Murali, Chaya, Lin, Kimberly Y., Berger, Justin H., Yum, Sabrina W., Carreon, Chrystalle Katte, Gregorio, Carol C.
Publicado 2019

Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra‐rare disease

por Adang, Laura A., Schlotawa, Lars, Groeschel, Samuel, Kehrer, Christiane, Harzer, Klaus, Staretz‐Chacham, Orna, Silva, Thiago Oliveira, Schwartz, Ida Vanessa D., Gärtner, Jutta, De Castro, Mauricio, Costin, Carrie, Montgomery, Esperanza Font, Dierks, Thomas, Radhakrishnan, Karthikeyan, Ahrens‐Nicklas, Rebecca C.
Publicado 2020

High density SNP array and reanalysis of genome sequencing uncovers CNVs associated with neurodevelopmental disorders in KOLF2.1J iPSCs

por Gracia-Diaz, Carolina, Perdomo, Jonathan E., Khan, Munir E., Disanza, Brianna, Cajka, Gregory G., Lei, Sunyimeng, Gagne, Alyssa, Maguire, Jean Ann, Roule, Thomas, Shalem, Ophir, Bhoj, Elizabeth J., Ahrens-Nicklas, Rebecca C., French, Deborah, Goldberg, Ethan M., Wang, Kai, Glessner, Joseph, Akizu, Naiara
Publicado 2023

Stimulation of entorhinal cortex-dentate gyrus circuitry is antidepressive

por Yun, Sanghee, Reynolds, Ryan P., Petrof, Iraklis, White, Alicia, Rivera, Phillip D., Segev, Amir, Gibson, Adam D., Suarez, Maiko, Desalle, Matthew J., Ito, Naoki, Mukherjee, Shibani, Richardson, Devon R., Kang, Catherine E., Ahrens-Nicklas, Rebecca C., Soler, Ivan, Chetkovich, Dane M., Kourrich, Saïd, Coulter, Douglas A., Eisch, Amelia J.
Publicado 2018

Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency

por Schlotawa, Lars, Tyka, Karolina, Kettwig, Matthias, Ahrens‐Nicklas, Rebecca C, Baud, Matthias, Berulava, Tea, Brunetti‐Pierri, Nicola, Gagne, Alyssa, Herbst, Zackary M, Maguire, Jean A, Monfregola, Jlenia, Pena, Tonatiuh, Radhakrishnan, Karthikeyan, Schröder, Sophie, Waxman, Elisa A, Ballabio, Andrea, Dierks, Thomas, Fischer, André, French, Deborah L, Gelb, Michael H, Gärtner, Jutta
Publicado 2023