Zobrazeno 1 - 10
of 94
pro vyhledávání: '"Rose‐Mary Boustany"'
Publikováno v:
Translational Psychiatry, Vol 13, Iss 1, Pp 1-11 (2023)
Abstract The landscape of autism spectrum disorder (ASD) in Lebanon is unique because of high rates of consanguinity, shared ancestry, and increased remote consanguinity. ASD prevalence in Lebanon is 1 in 68 with a male-to-female ratio of 2:1. This s
Externí odkaz:
https://doaj.org/article/0ee1a6e77bec47a8bb3e09750c17cf9f
Autor:
Joelle Makoukji, Sally El-Sitt, Nadine J Makhoul, Jihane Soueid, Humam Kadara, Rose-Mary Boustany
Publikováno v:
PLoS ONE, Vol 15, Iss 10, p e0239537 (2020)
BackgroundCLN3 disease is caused by mutations in the CLN3 gene. The purpose of this study is to discern global expression patterns reflecting therapeutic targets in CLN3 disease.MethodsDifferential gene expression in vehicle-exposed mouse brain was d
Externí odkaz:
https://doaj.org/article/846361f0c7914ccdb0167d0d732e4d68
Autor:
Joelle Makoukji, Fadi Saadeh, Karl Albert Mansour, Sally El‐Sitt, Jamal Al Ali, Nihar Kinarivala, Paul C. Trippier, Rose‐Mary Boustany
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 5, Iss 9, Pp 1089-1103 (2018)
Abstract Objective Neuronal Ceroid Lipofuscinoses (NCL) are fatal inherited neurodegenerative diseases with established neuronal cell death and increased ceramide levels in brain, hence, a need for disease‐modifying drug candidates, with potential
Externí odkaz:
https://doaj.org/article/e661f20a7f5146d8aa6824cfbddc37a8
Autor:
Stephanie Saaybi, Natally AlArab, Salem Hannoun, Maritherese Saade, Rayyan Tutunji, Carine Zeeni, Rolla Shbarou, Roula Hourani, Rose-Mary Boustany
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
Objective: This pilot study aims to identify white matter (WM) tract abnormalities in Autism Spectrum Disorders (ASD) toddlers and pre-schoolers by Diffusion Tensor Imaging (DTI), and to correlate imaging findings with clinical improvement after earl
Externí odkaz:
https://doaj.org/article/e84a0393a5d64ea5aba51c3340f1b869
Autor:
Sally El-Sitt, Jihane Soueid, Jamal Al Ali, Joelle Makoukji, Nadine J. Makhoul, Hayat Harati, Rose-Mary Boustany
Publikováno v:
Frontiers in Neurology, Vol 10 (2019)
CLN3 disease is a neurodevelopmental disease leading to early visual failure, motor decline, and death. CLN3 pathogenesis has been linked to dysregulation of ceramide, a key intracellular messenger impacting various biological functions. Ceramide is
Externí odkaz:
https://doaj.org/article/be0752e88674435ea5eeae9829ab80f5
Autor:
Katia Maalouf, Joelle Makoukji, Sara Saab, Nadine J. Makhoul, Angelica V. Carmona, Nihar Kinarivala, Noël Ghanem, Paul C. Trippier, Rose-Mary Boustany
Publikováno v:
Cells, Vol 9, Iss 8, p 1872 (2020)
CLN3 disease is a fatal neurodegenerative disorder affecting children. Hallmarks include brain atrophy, accelerated neuronal apoptosis, and ceramide elevation. Treatment regimens are supportive, highlighting the importance of novel, disease-modifying
Externí odkaz:
https://doaj.org/article/a2bef69d6b734d34b5e6c96c27a64668
Autor:
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
Publikováno v:
eLife, Vol 4 (2015)
Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis development. We performed a high-content genome-wide small interfering RNA (siRNA) screen to i
Externí odkaz:
https://doaj.org/article/c3d923b71f264930947bb9ecf4abf7f9
Autor:
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
Publikováno v:
PLoS ONE, Vol 7, Iss 6, p e38310 (2012)
Cln3(Δex7/8) mice harbor the most common genetic defect causing juvenile neuronal ceroid lipofuscinosis (JNCL), an autosomal recessive disease involving seizures, visual, motor and cognitive decline, and premature death. Here, to more thoroughly inv
Externí odkaz:
https://doaj.org/article/1d1ada78800e44e893b4656b106c2943
Autor:
Nadine J. Makhoul, Zahi Wehbi, Dalia El Hadi, Baha Noureddine, Rose-Mary Boustany, Christiane Al-Haddad
Publikováno v:
Ophthalmic Genetics. 44:234-245
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::40df7c395cd8f3cad0973298fb081fa4
https://doi.org/10.1080/13816810.2023.2189949
https://doi.org/10.1080/13816810.2023.2189949
Autor:
Arndt Rolfs, Nadia Al-Hashmi, Omid Paknia, Ana Westenberger, Moenaldeen AlSayed, Christian Beetz, Najim Ameziane, Peter Bauer, Krishna Kumar Kandaswamy, Ruslan Al-Ali, Volha Skrahina, Rose-Mary Boustany, Zuhair N. Al-Hassnan, Fuad Al Mutairi, Majid Alfadhel
Publikováno v:
Movement Disorders
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::59c4c3a9f2b4ea52a1625572059fb04d
http://europepmc.org/articles/PMC8248088
http://europepmc.org/articles/PMC8248088