Pre- and Post-therapy Assessment of Clinical Outcomes and White Matter Integrity in Autism Spectrum Disorder: Pilot Study

by Stephanie Saaybi, Stephanie Saaybi, Natally AlArab, Salem Hannoun, Salem Hannoun, Maritherese Saade, Rayyan Tutunji, Rayyan Tutunji, Carine Zeeni, Rolla Shbarou, Roula Hourani, Rose-Mary Boustany, Rose-Mary Boustany
Published 2019-08-01

Sex differences in gene expression with galactosylceramide treatment in Cln3Δex7/8 mice.

by Joelle Makoukji, Sally El-Sitt, Nadine J Makhoul, Jihane Soueid, Humam Kadara, Rose-Mary Boustany
Published 2020-01-01

Sex differences in gene expression with galactosylceramide treatment in Cln3Δex7/8 mice

by Joelle Makoukji, Sally El-Sitt, Nadine J. Makhoul, Jihane Soueid, Humam Kadara, Rose-Mary Boustany, Francisco J. Esteban
Published 2020-01-01

Developmental Comparison of Ceramide in Wild-Type and Cln3Δex7/8 Mouse Brains and Sera

by Sally El-Sitt, Jihane Soueid, Jamal Al Ali, Joelle Makoukji, Nadine J. Makhoul, Hayat Harati, Rose-Mary Boustany
Published 2019-02-01

Flupirtine derivatives as potential treatment for the neuronal ceroid lipofuscinoses

by Joelle Makoukji, Fadi Saadeh, Karl Albert Mansour, Sally El‐Sitt, Jamal Al Ali, Nihar Kinarivala, Paul C. Trippier, Rose‐Mary Boustany
Published 2018-09-01

Exogenous Flupirtine as Potential Treatment for CLN3 Disease

by Katia Maalouf, Joelle Makoukji, Sara Saab, Nadine J. Makhoul, Angelica V. Carmona, Nihar Kinarivala, Noël Ghanem, Paul C. Trippier, Rose-Mary Boustany
Published 2020-08-01

Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system.

by John F Staropoli, Larissa Haliw, Sunita Biswas, Lillian Garrett, Sabine M Hölter, Lore Becker, Sergej Skosyrski, Patricia Da Silva-Buttkus, Julia Calzada-Wack, Frauke Neff, Birgit Rathkolb, Jan Rozman, Anja Schrewe, Thure Adler, Oliver Puk, Minxuan Sun, Jack Favor, Ildikó Racz, Raffi Bekeredjian, Dirk H Busch, Jochen Graw, Martin Klingenspor, Thomas Klopstock, Eckhard Wolf, Wolfgang Wurst, Andreas Zimmer, Edith Lopez, Hayat Harati, Eric Hill, Daniela S Krause, Jolene Guide, Ella Dragileva, Evan Gale, Vanessa C Wheeler, Rose-Mary Boustany, Diane E Brown, Sylvie Breton, Klaus Ruether, Valérie Gailus-Durner, Helmut Fuchs, Martin Hrabě de Angelis, Susan L Cotman
Published 2012-01-01

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome

by Susanne Roosing, Matan Hofree, Sehyun Kim, Eric Scott, Brett Copeland, Marta Romani, Jennifer L Silhavy, Rasim O Rosti, Jana Schroth, Tommaso Mazza, Elide Miccinilli, Maha S Zaki, Kathryn J Swoboda, Joanne Milisa-Drautz, William B Dobyns, Mohamed A Mikati, Faruk İncecik, Matloob Azam, Renato Borgatti, Romina Romaniello, Rose-Mary Boustany, Carol L Clericuzio, Stefano D'Arrigo, Petter Strømme, Eugen Boltshauser, Franco Stanzial, Marisol Mirabelli-Badenier, Isabella Moroni, Enrico Bertini, Francesco Emma, Maja Steinlin, Friedhelm Hildebrandt, Colin A Johnson, Michael Freilinger, Keith K Vaux, Stacey B Gabriel, Pedro Aza-Blanc, Susanne Heynen-Genel, Trey Ideker, Brian D Dynlacht, Ji Eun Lee, Enza Maria Valente, Joon Kim, Joseph G Gleeson
Published 2015-05-01