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Neurology|October 4, 2015
Tubers are neither static nor discrete: Evidence from serial diffusion tensor imagingJurriaan M Peters, Anna K Prohl, Xavier K Tomas-Fernandez, et al.
HGG Advances|October 24, 2022
Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndromeMichael S Breen, Xuanjia Fan, Tess Levy, et al.
Developmental Cell|June 6, 2025
AKT-mediated phosphorylation of TSC2 controls stimulus- and tissue-specific mTORC1 signaling and organ growthYann Cormerais, Samuel C Lapp, Krystle C Kalafut, et al.
Endokrynologia Polska|February 4, 2022
Higher rate of COVID-19 mortality in patients with type 1 than type 2 diabetes: a nationwide studyIbrahim Demirci, Cem Haymana, Ilker Tasci, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|July 24, 2023
Plasma Neurofilament Light Chain Is Elevated in Adaptor Protein Complex 4-Related Hereditary Spastic ParaplegiaJulian E Alecu, Afshin Saffari, Marvin Ziegler, et al.
Human Molecular Genetics|May 20, 2022
A randomized controlled trial of everolimus for neurocognitive symptoms in PTEN hamartoma tumor syndromeSiddharth Srivastava, Booil Jo, Bo Zhang, et al.
Annals of Clinical and Translational Neurology|July 30, 2019
White matter mean diffusivity correlates with myelination in tuberous sclerosis complexJurriaan M Peters, Robbert R Struyven, Anna K Prohl, et al.
Biorxiv : the Preprint Server for Biology|April 3, 2026
Postnatal gene restoration in succinic semialdehyde dehydrogenase deficiency (SSADHD) reveals phenotype reversibilityHenry H C Lee, Gabrielle McGinty, Amanda Liebhardt, et al.
Nature Medicine|June 28, 2024
AAV gene therapy for hereditary spastic paraplegia type 50: a phase 1 trial in a single patientJames J Dowling, Terry Pirovolakis, Keshini Devakandan, et al.
Neurobiology of Disease|December 18, 2023
ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterationsWardiya Afshar-Saber, Nicole A Teaney, Kellen D Winden, et al.
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