Leigh syndrome global patient registry: uniting patients and researchers worldwide
Zilber, Sophia, Woleben, Kasey, Johnson, Simon C, de Souza, Carolina Fischinger Moura, Boyce, Danielle, Freiert, Kevin, Boggs, Courtney, Messahel, Souad, Burnworth, Melinda J, Afolabi, Titilola M, Kayani, Saima
Published in Orphanet journal of rare diseases (04.09.2023)
Published in Orphanet journal of rare diseases (04.09.2023)
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Journal Article
Combination of triheptanoin with the ketogenic diet in Glucose transporter type 1 deficiency (G1D)
Avila, Adrian, Málaga, Ignacio, Sirsi, Deepa, Kayani, Saima, Primeaux, Sharon, Kathote, Gauri A., Jakkamsetti, Vikram, Kallem, Raja Reddy, Putnam, William C., Park, Jason Y., Shinnar, Shlomo, Pascual, Juan M.
Published in Scientific reports (02.06.2023)
Published in Scientific reports (02.06.2023)
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Journal Article
Long-term progression of retinal degeneration in a preclinical model of CLN7 Batten disease as a baseline for testing clinical therapeutics
Rowe, Ashley A., Chen, Xin, Nettesheim, Emily R., Issioui, Yacine, Dong, Thomas, Hu, Yuhui, Messahel, Souad, Kayani, Saima N., Gray, Steven J., Wert, Katherine J.
Published in EBioMedicine (01.11.2022)
Published in EBioMedicine (01.11.2022)
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Journal Article
Role of Intravenous Levetiracetam in Acute Seizure Management of Children
Kirmani, Batool F., MD, Crisp, Edwin D., MD, Kayani, Saima, MD, Rajab, Hasan, PhD
Published in Pediatric neurology (01.07.2009)
Published in Pediatric neurology (01.07.2009)
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Journal Article
The Safety and Tolerability of Newer Antiepileptic Drugs in Children and Adolescents
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Journal Article
Book Review
Mitochondrial encephalopathies and myopathies: Our tertiary center's experience
Ozlu, Can, Messahel, Souad, Minassian, Berge, Kayani, Saima
Published in European journal of paediatric neurology (01.05.2024)
Published in European journal of paediatric neurology (01.05.2024)
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Journal Article
Physical Activity and Anxiety of Chinese University Students: Mediation of Self-System
Kayani, Sumaira, Kiyani, Tayyaba, Kayani, Saima, Morris, Tony, Biasutti, Michele, Wang, Jin
Published in International journal of environmental research and public health (22.04.2021)
Published in International journal of environmental research and public health (22.04.2021)
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Journal Article
Natural History of SURF1 Deficiency: A Retrospective Chart Review
Khan, Tuba Rashid, Leprince, Inka, Messahel, Souad, Minassian, Berge A., Kayani, Saima
Published in Pediatric neurology (01.03.2023)
Published in Pediatric neurology (01.03.2023)
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Journal Article
Individual, Interpersonal, and Organizational Factors Affecting Physical Activity of School Adolescents in Pakistan
Kiyani, Tayyaba, Kayani, Sumaira, Kayani, Saima, Batool, Iffat, Qi, Si, Biasutti, Michele
Published in International journal of environmental research and public health (30.06.2021)
Published in International journal of environmental research and public health (30.06.2021)
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Journal Article
Preliminary safety data of a phase 1 first in-human clinical trial support the use of high dose intrathecal AAV9/CLN7 for the treatment of patients with CLN7 disease
Kayani, Saima, Chen, Xin, Messahel, Souad, Edgar, Veronica, Iannaccone, Susan, Gray, Steven, Minassian, Berge, Greenberg, Benjamin
Published in Molecular genetics and metabolism (01.02.2022)
Published in Molecular genetics and metabolism (01.02.2022)
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Journal Article
ECHS1 deficiency and its biochemical and clinical phenotype
Ozlu, Can, Chelliah, Priya, Dahshi, Hamza, Horton, Daniel, Edgar, Veronica B., Messahel, Souad, Kayani, Saima
Published in American journal of medical genetics. Part A (01.10.2022)
Published in American journal of medical genetics. Part A (01.10.2022)
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Journal Article
Cognitive and Interpersonal Factors Affecting Social Adjustment of University Students in Pakistan
Kayani, Saima, Aajiz, Niaz Muhammad, Raza, Khisro Kaleem, Kayani, Sumaira, Biasutti, Michele
Published in International journal of environmental research and public health (30.12.2022)
Published in International journal of environmental research and public health (30.12.2022)
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Journal Article
Interpersonal Factors Affecting Adolescents’ Career Exploration in PAKISTAN
Kayani, Sumaira, Kayani, Humaira, Raza, Khisro Kaleem, Kayani, Saima, Li, Weijian, Biasutti, Michele
Published in Sustainability (01.07.2022)
Published in Sustainability (01.07.2022)
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Journal Article
Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate–binding region
Kelly, McKenna, Park, Meredith, Mihalek, Ivana, Pérez‐Palma, Eduardo, Anselm, Irina, Briere, Lauren C., High, Frances A., Sweetser, David A., Allard, Patrick, Ashley, Euan A., Bacino, Carlos A., Baker, Eva, Barseghyan, Hayk, Batzli, Gabriel F., Behnam, Babak, Bellen, Hugo J., Bernstein, Jonathan A., Bican, Anna, Bostwick, Bret L., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Clark, Gary D., Colley, Heather A., Cooper, Cynthia M., Davids, Mariska, Dell’Angelica, Esteban C., Dorrani, Naghmeh, Douine, Emilie D., Emrick, Lisa T., Fairbrother, Laura, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Friedman, Noah D., Gahl, William A., Gourdine, Jean‐Philippe F., Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hom, Jason, Howerton, Ellen M., Jamal, Fariha, Jiang, Yong‐hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Koeller, David M., Kohane, Isaac S., Koziura, Mary, Lalani, Seema R., Lazar, Jozef, Levy, Shawn E., Lincoln, Sharyn A., Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martínez‐Agosto, Julian A., May, Thomas, Morimoto, Marie, Mulvihill, John J., Murphy, Jennifer L., Nelson, Stan F., Newman, John H., Novacic, Donna, Orange, Jordan S., Potocki, Lorraine, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Sampson, Jacinda B., Samson, Susan L., Schoch, Kelly, Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Spillmann, Rebecca C., Stong, Nicholas, Sullivan, Jennifer A., Waggott, Daryl M., Walsh, Chris A., Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Worthey, Elizabeth A., Yoon, Amanda J., Zastrow, Diane B.
Published in Epilepsia (Copenhagen) (01.03.2019)
Published in Epilepsia (Copenhagen) (01.03.2019)
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Journal Article