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Biorxiv : the Preprint Server for Biology|March 31, 2025
Phenotypic analysis of 11,125 trio exomes in neurodevelopmental disordersShiva Ganesan, Sarah M Ruggiero, Shridhar Parthasarathy, et al.
American Journal of Physiology. Cell Physiology|February 4, 2011
Modulation of sarcoplasmic reticulum Ca2+ release in skeletal muscle expressing ryanodine receptor impaired in regulation by calmodulin and S100A1Naohiro Yamaguchi, Benjamin L Prosser, Farshid Ghassemi, et al.
Epilepsia|July 27, 2023
A quality improvement initiative to improve folic acid supplementation counseling for adolescent females with epilepsySara E Molisani, Darshana Parikh, Marissa DiGiovine, et al.
Epilepsia Open|January 10, 2023
A disease concept model for STXBP1-related disordersKatie R Sullivan, Sarah M Ruggiero, Julie Xian, et al.
Science Signaling|August 9, 2012
Microtubules underlie dysfunction in duchenne muscular dystrophyRamzi J Khairallah, Guoli Shi, Francesca Sbrana, et al.
JACC. Basic to Translational Science|October 4, 2023
An Unbiased Screen Identified the Hsp70-BAG3 Complex as a Regulator of Myosin-Binding Protein C3Andrea D Thompson, Marcus J Wagner, Juliani Rodriguez, et al.
Developmental Cell|May 21, 2019
Mechanosensing by the Lamina Protects against Nuclear Rupture, DNA Damage, and Cell-Cycle ArrestSangkyun Cho, Manasvita Vashisth, Amal Abbas, et al.
EMBO Molecular Medicine|November 29, 2015
Simultaneous impairment of neuronal and metabolic function of mutated gephyrin in a patient with epileptic encephalopathyBorislav Dejanovic, Tania Djémié, Nora Grünewald, et al.
Epilepsia|April 14, 2010
Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic regionConstanze Reutlinger, Ingo Helbig, Barbara Gawelczyk, et al.
Annals of Clinical and Translational Neurology|July 16, 2020
Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndromeIngo Helbig, Giulia Barcia, Manuela Pendziwiat, et al.
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