Publications by authors named "Saima Kayani"

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First-in-human high dose AAV9 intrathecal gene therapy for paediatric CLN7 disease: a phase 1, open-label, single ascending dose, non-randomised clinical trial.
Benjamin M Greenberg, Berge Minassian, Souad Messahel, Veronica Bordes Edgar, Andrea Lowden, Saima N Kayani

EBioMedicine· November 2025

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SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype.
Saima Kayani, Victor Daescu, Hamza Dahshi, Souad Messahel, Kasey Woleban

Am J Med Genet A· April 2025

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Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills.
Saima Kayani, Veronica BordesEdgar, Andrea Lowden, Emily R Nettesheim, Hamza Dahshi

Orphanet J Rare Dis· December 2024

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Neurodevelopmental Disorder Caused by Deletion of , a lncRNA Gene.
Vijay S Ganesh, Kevin Riquin, Nicolas Chatron, Esther Yoon, Kay-Marie Lamar, Saima Kayani

N Engl J Med· October 2024

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Response to the letter by Josef Finsterer, MD, PhD.
Saima Kayani

Eur J Paediatr Neurol· July 2024

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Neuronal Ceroid Lipofuscinoses Type 7 (CLN7)- A Case Series Reporting Cross Sectional and Retrospective Clinical Data to Evaluate Validity of Standardized Tools to Assess Disease Progression, Quality of Life, and Adaptive Skills.
Saima Kayani, Veronica Bordes Edgar, Andrea Lowden, Emily R Nettesheim, Hamza Dahshi

Res Sq· June 2024

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Mitochondrial encephalopathies and myopathies: Our tertiary center's experience.
Can Ozlu, Souad Messahel, Berge Minassian, Saima Kayani

Eur J Paediatr Neurol· May 2024

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Novel syndromic neurodevelopmental disorder caused by deletion of , a long noncoding RNA.
Vijay S Ganesh, Kevin Riquin, Nicolas Chatron, Kay-Marie Lamar, Miriam C Aziz, Saima Kayani

medRxiv· February 2024

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Leigh syndrome global patient registry: uniting patients and researchers worldwide.
Sophia Zilber, Kasey Woleben, Simon C Johnson, Carolina Fischinger Moura de Souza, Danielle Boyce, Saima Kayani

Orphanet J Rare Dis· September 2023

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Combination of triheptanoin with the ketogenic diet in Glucose transporter type 1 deficiency (G1D).
Adrian Avila, Ignacio Málaga, Deepa Sirsi, Saima Kayani, Sharon Primeaux

Sci Rep· June 2023

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Natural History of SURF1 Deficiency: A Retrospective Chart Review.
Tuba Rashid Khan, Inka Leprince, Souad Messahel, Berge A Minassian, Saima Kayani

Pediatr Neurol· March 2023

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Cognitive and Interpersonal Factors Affecting Social Adjustment of University Students in Pakistan.
Saima Kayani, Niaz Muhammad Aajiz, Khisro Kaleem Raza, Sumaira Kayani, Michele Biasutti

Int J Environ Res Public Health· December 2022

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Long-term progression of retinal degeneration in a preclinical model of CLN7 Batten disease as a baseline for testing clinical therapeutics.
Ashley A Rowe, Xin Chen, Emily R Nettesheim, Yacine Issioui, Thomas Dong, Saima N Kayani

EBioMedicine· November 2022

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ECHS1 deficiency and its biochemical and clinical phenotype.
Can Ozlu, Priya Chelliah, Hamza Dahshi, Daniel Horton, Veronica B Edgar, Saima Kayani

Am J Med Genet A· October 2022

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Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome.
Margot A Cousin, Emma L Veale, Nikita R Dsouza, Swarnendu Tripathi, Robyn G Holden, Saima Kayani

Genome Med· June 2022

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Individual, Interpersonal, and Organizational Factors Affecting Physical Activity of School Adolescents in Pakistan.
Tayyaba Kiyani, Sumaira Kayani, Saima Kayani, Iffat Batool, Si Qi

Int J Environ Res Public Health· June 2021

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Physical Activity and Anxiety of Chinese University Students: Mediation of Self-System.
Sumaira Kayani, Tayyaba Kiyani, Saima Kayani, Tony Morris, Michele Biasutti

Int J Environ Res Public Health· April 2021

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Congenital disorders of glycosylation as an unusual cause of antithrombin deficiency and elevated thrombin generation.
Rida Hasan, Saima Kayani, Ayesha Zia

Pediatr Blood Cancer· February 2020

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De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-progressive Neurocognitive Syndrome.
Elizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, Mais O Hashem, Fajr A Aleisa, Saima Kayani

Am J Hum Genet· April 2019

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Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region.
McKenna Kelly, Meredith Park, Ivana Mihalek, Anne Rochtus, Marie Gramm, Saima Kayani

Epilepsia· March 2019

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De Novo Variants Disrupting the HX Repeat Motif of ATN1 Cause a Recognizable Non-Progressive Neurocognitive Syndrome.
Elizabeth E Palmer, Seungbeom Hong, Fatema Al Zahrani, Mais O Hashem, Fajr A Aleisa, Saima Kayani

Am J Hum Genet· March 2019

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The safety and tolerability of newer antiepileptic drugs in children and adolescents.
Saima Kayani, Deepa Sirsi

J Cent Nerv Syst Dis· May 2013

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Role of intravenous levetiracetam in acute seizure management of children.
Batool F Kirmani, Edwin D Crisp, Saima Kayani, Hasan Rajab

Pediatr Neurol· July 2009

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