A case report of a patient with primary familial brain calcification with a PDGFRB genetic variant

por Al Ali, Jamal, Yang, Jessica, Phillips, Matthew S., Fink, Joseph, Mastrianni, James, Seibert, Kaitlin
Publicado 2023

Developmental Comparison of Ceramide in Wild-Type and Cln3(Δex7/8) Mouse Brains and Sera

por El-Sitt, Sally, Soueid, Jihane, Al Ali, Jamal, Makoukji, Joelle, Makhoul, Nadine J., Harati, Hayat, Boustany, Rose-Mary
Publicado 2019

Flupirtine derivatives as potential treatment for the neuronal ceroid lipofuscinoses

por Makoukji, Joelle, Saadeh, Fadi, Mansour, Karl Albert, El‐Sitt, Sally, Al Ali, Jamal, Kinarivala, Nihar, Trippier, Paul C., Boustany, Rose‐Mary
Publicado 2018

TAF1 Transcripts and Neurofilament Light Chain as Biomarkers for X‐linked Dystonia‐Parkinsonism

por Al Ali, Jamal, Vaine, Christine A., Shah, Shivangi, Campion, Lindsey, Hakoum, Ahmad, Supnet, Melanie L., Acuña, Patrick, Aldykiewicz, Gabrielle, Multhaupt‐Buell, Trisha, Ganza, Niecy G.M., Lagarde, John B.B., De Guzman, Jan K., Go, Criscely, Currall, Benjamin, Trombetta, Bianca, Webb, Pia K., Talkowski, Michael, Arnold, Steven E., Cheah, Pike S., Ito, Naoto, Sharma, Nutan, Bragg, D. Cristopher, Ozelius, Laurie, Breakefield, Xandra O.
Publicado 2020