The F.M. Kirby Neurobiology Center is fully committed to recruiting and supporting talented individuals and ensuring they all have a place in our research community.
April 2026
Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome.
Simon AJ, Picard N, d’Andrea V, Chang E, Leffler J, Centofante E, Taylor M, Bardi F, Cavicchiolo F, Hensch TK, Panzeri S, Chen C, Fagiolini M.
Ann Clin Transl Neurol. 2026 Apr;13(4):700-713. doi: 10.1002/acn3.70197. Epub 2025 Nov 19.PMID: 41261374
Diagnostic Utility of the ATG9A Ratio in AP-4-Associated Hereditary Spastic Paraplegia.
Agianda HAP, Kim HM, Battaglia N, Rong J, Tam A, Gonzalez Saez-Diez E, Boerkoel CF, Saffari A, Quiroz V, Schierbaum L, Zaman Z, Bernardi K, Ebrahimi-Fakhari D.
Ann Clin Transl Neurol. 2026 Apr;13(4):834-839. doi: 10.1002/acn3.70308. Epub 2026 Jan 5.PMID: 41491634
International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives.
Nou-Fontanet L, Ravelli C, Burglen L, Balsells Mejia S, Valls-Villalba A, Schiffels ER, Innocenti A, Villafuerte B, Salazar-Villacorta A, Quiroz V, Sariego Jamardo A, Bonato G, Díaz-Gomez A, Afenjar A, Vilain C, da Silva Möller PD, Garcia-Navas Nuñez D, Krygier M, Molnar MJ, Milanowski Ł, Õunap K, Pauni M, Vega P, Borie R, Villamil-Osorio M, Yilmaz S, Zádori D, Zawadzka M, Barakat TS, Neuens S, de Natera-de Benito D, Casas-Alba D, Soliani L, de Gusmao CM, Garone G, Specchio N, Carecchio M, Moreno JC, Magrinelli F, Bhatia KP, Ebrahimi-Fakhari D, Castiglioni C, Kurian MA, Carvalho JN, Pons R, Roze E, Doummar D, Ortigoza-Escobar JD.
Mov Disord. 2026 Apr;41(4):889-900. doi: 10.1002/mds.70187. Epub 2026 Jan 19.PMID: 41552915
Shim SW, Kim HW, Lee YK, Woolf CJ, Lee K, Oh SB.
Pain. 2026 Apr 1;167(4):952-961. doi: 10.1097/j.pain.0000000000003896. Epub 2026 Jan 15.PMID: 41553172
Calame DG, Wiener EK, Gavazzi F, Sevagamoorthy A, Pizzino A, Arnold K, Dominguez Gonzalez C, Jammihal T, Bennett M, Adang L, Woidill S, Whitehead MT, Vossough A, D’Aiello R, Takanohashi A, Lele J, Simons C, Rius R, Formaini E, Sullivan KE, Andzelm M, Ebrahimi-Fakhari D, Otten C, Wong S, Reynolds T, Schiffmann R, Wolf NI, Waisfisz Q, Niermeijer JM, DeMarzo D, Dawood M, Gandhi M, Levine JM, Chinn IK, Fisher K, Emrick L, Alam CA, Kaiyrzhanov R, Maroofian R, Houlden H, Jhangiani SN, Mehta HH, Muzny DM, Sedlazeck FJ, Posey JE, Lupski JR, Gibbs RA, Rajagopalan R, Vanderver A.
medRxiv [Preprint]. 2026 Apr 1:2026.03.27.26345228. doi: 10.64898/2026.03.27.26345228.PMID: 41959779
Energy stress activates AMPK to arrest mitochondria via phosphorylation of TRAK1.
Falk JE, Henke T, Gowrisankaran S, Wanderoy S, Basu H, Greally S, Steen J, Schwarz TL.
J Cell Biol. 2026 Apr 6;225(4):e202501023. doi: 10.1083/jcb.202501023. Epub 2026 Jan 30.PMID: 41615403
Scaling genomic reanalysis to unlock diagnoses and transform rare disease care.
Rockowitz S, Shao W, French C, Truong TK, Hagen J, McGonigle R, Geltzeiler A, Sheidley B, Smith L, D’Gama AM, Irons M, Chou J, Stoler J, Kritzer A, Rodan L, Shimamura A, Bodamer O, Sacharow S, Soul JS, Srivastava S, Kennedy AR, Abu-El-Haija A, Lai A, Olson H, Juusola J, Ryan E, Friedman B, Singh A, Li C, Mallik R, Strickland G, Prinzing G, Mo A, O’Donnell-Luria A, Bolton J, Boone PM, Brucker W, Duyzend M, Mahida S, Miller DT, Omorodion J, Petit J, Picker J, Poduri A, Carlston C, Wojcik MH, Sliz P, Chung WK.
HGG Adv. 2026 Apr 9;7(2):100582. doi: 10.1016/j.xhgg.2026.100582. Epub 2026 Feb 18.PMID: 41715921
Minimal Mimics and Maps of Natural Light for Mammals.
Morquette P, Do MTH.
J Neurosci. 2026 Apr 10:e0180262026. doi: 10.1523/JNEUROSCI.0180-26.2026. Online ahead of print.PMID: 41963092
Osaki T, Delepine C, Osako Y, Kranz D, Levin A, Nelson C, Fagiolini M, Sur M.
Nat Commun. 2026 Apr 14. doi: 10.1038/s41467-026-71458-0. Online ahead of print.PMID: 41980938
Tiki2 restrains Wnt5a/Ror signaling to limit inflammation in acute kidney injury.
Yang C, Wang S, Zhang M, MacDonald BT, Wang Z, He X, Zeng R, Zhang X.
Commun Biol. 2026 Apr 14. doi: 10.1038/s42003-026-10053-x. Online ahead of print.PMID: 41981279
Domínguez-Carral J, Domínguez Cobo AM, Balsells S, Aguilar-Ros A, Chang CT, Ludlam WG, Yang K, Bernardi K, Chinigioli M, Salazar-Villacorta A, Di Pisa V, Lamagrande-Casanova N, González-Alguacil E, De la Casa-Fages B, Okumura A, Rodríguez J, Agarwal A, Muñoz-Chesta D, Reynoso-Osnayo C, Lin A, Tabarki B, Parvin J, Gallo AA, Forno A, Maass F, Montiel Blanco J, Nasif S, Jennions E, Ramón-Gómez JL, Verhelst H, Nieto Barceló JJ, Čokolić Petrović D, García Ruiz LV, van Riesen C, Rego Sousa P, Massaro Sanchez MDP, Khan HA, Hakami W, Friedman J, Espinoza-Quinteros I, Troncoso M, Garg D, Pauni M, Kurahashi H, Miranda-Herrero MC, Duat-Rodriguez A, Soliani L, Kurian MA, Schteinschnaider A, Srivastava S, Ebrahimi-Fakhari D, Martemyanov KA, Ortigoza-Escobar JD.
Ann Neurol. 2026 Apr 17. doi: 10.1002/ana.78213. Online ahead of print.PMID: 41992961
Lee HHC, Balter SR, Hodgson NW, Weisinger B, Shohami E, Doniger GM, Parabucki A, Segal Y, Hensch TK.
iScience. 2026 Jan 19;29(4):114731. doi: 10.1016/j.isci.2026.114731. eCollection 2026 Apr 17.PMID: 42006370
Movement Disorders in Aicardi-Goutières Syndrome and Response to Immunomodulation.
Gonzalez Saez-Diez E, Ferrer Socorro M, Yang K, Battaglia N, Zaman Z, Bennett M, Vanderver A, Lee PY, Henderson LA, Andzelm MM, Ebrahimi-Fakhari D.
Ann Clin Transl Neurol. 2026 Apr 25. doi: 10.1002/acn3.70407. Online ahead of print.PMID: 42033272
HIGH-FIDELITY backpropagation through primate foveal cones.
Wienbar SR, Bryman GS, Do MTH.
J Neurosci. 2026 Apr 28:e0085262026. doi: 10.1523/JNEUROSCI.0085-26.2026. Online ahead of print.PMID: 42049512
Zhao G, Sharma A, Tang J, Aleman M, Liang X, Miner L, Qi J, Xiang W, Tian F, Goldberg Y, He Z, Shen K, Peris L, L Schwarz T.
Proc Natl Acad Sci U S A. 2026 May 5;123(18):e2520684123. doi: 10.1073/pnas.2520684123. Epub 2026 Apr 27.PMID: 42044343
April 2026
Visual Recovery Reflects Cortical MeCP2 Sensitivity in Rett Syndrome. Simon AJ, Picard N, d'Andrea V, Chang E, Leffler J, Centofante E, Taylor M, Bardi F, Cavicchiolo F, Hensch TK, Panzeri S, Chen C, Fagiolini M.Ann Clin Transl Neurol. 2026 Apr;13(4):700-713. doi:...
March 2026
Spectrum of Movement Disorders in Early-Onset Hereditary Spastic Paraplegia: A Study of 428 Cases. Resch D, Alecu JE, Yang K, Quiroz V, Schierbaum L, Bernardi K, Zaman Z, Agianda HAP, Rong J, Battaglia N, Carty S, Tam A, Kieslich M, Santorelli FM, González-Salazar C,...
February 2026
Comprehensive Clinical Characteristics, Longitudinal Adaptive Functioning, and Electroencephalogram Activity in MAPK8IP3-Related Neurodevelopmental Disorder. Sudnawa KK, Geltzeiler A, Kanner CH, Zreibe K, Pini N, Tam C, Fee RJ, Calamia S, Callejo E, Sharples H,...
January 2026
Electroencephalogram (EEG) Spike Metrics Discriminate Impending Epileptic Spasms From Other Seizures in Children With Tuberous Sclerosis Complex: A Pilot Study. Brandon Bravo Bruinsma PJ, Hadjinicolaou A, Rajaraman RR, Hussain SA, Krueger DA, Sahin M, Northrup H,...
June to December 2025
ap4b1 -/zebrafish demonstrate morphological and motor abnormalities. Hum Mol Genet. Ebrahimi-Fakhari Lab. Limited transmission of mixed convergent signals at the mouse retinogeniculate synapse. Neuron. Chen Lab. Structural and functional basis of mechanosensitive...
January to May 2025
Harnessing the potential of human induced pluripotent stem cells, functional assays and machine learning for neurodevelopmental disorders. Front Neuroscience. Human Neuron Core. Phenotypic rescue via mTOR inhibition in neuron-specific Pten knockout mice reveals AKT...
July to December 2024
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. Genet Med. Engle Lab. Identification of novel neuroprotectants against vincristine-induced neurotoxicity in iPSC-derived neurons. Cell Mol Life Sci. Woolf Lab. Dopamine biases...
May & June 2024
Spinal projecting neurons in rostral ventromedial medulla co-regulate motor and sympathetic tone. Cell. Zhigang He Lab. The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome. Ann Clin Transl Neurol. Ebrahimi-Fakhari Lab....
March & April 2024
Neural and behavioural state switching during hippocampal dentate spikes. Nature. Farrell Lab. Presence of Copy Number Variants Associated With Esotropia in Patients With Exotropia. JAMA Ophthalmol. Engle & Whitman Labs. Comprehensive phenotypes of patients with...
January & February 2024
Quantitative profiling of posttranslational modifications of pathological tau via sarkosyl fractionation and mass spectrometry. Nature Protocols. Steen Lab. High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal...
November & December 2023
A transcriptomic taxonomy of mouse brain-wide spinal projecting neurons. Nature. Z. He Lab. Clinical Variants Paired with Phenotype: A Rich Resource for Brain Gene Curation. Genetics in Medicine. Chopra & Sahin Labs. The Multistable Melanopsins of Mammals....
September & October 2023
Synaptic BMAL1 phosphorylation controls circadian hippocampal plasticity. Science Advances. Lipton Lab. Shortened Motor Evoked Potential Latency in the Epileptic Hemisphere of Children With Focal Epilepsy. Journal of Clinical Neurophysiology. Rotenberg Lab. Behavioral...
July & August 2023
The projection-specific signals that establish functionally segregated dopaminergic synapses. Cell. Umemori Lab. Exposure of iPSC-derived human microglia to brain substrates enables the generation and manipulation of diverse transcriptional states in vitro. Nature...
May & June 2023
Noncoding variants alter GATA2 expression in rhombomere 4 motor neurons and cause dominant hereditary congenital facial paresis. Nature Genetics. Engle Lab. Defining diurnal fluctuations in mouse choroid plexus and CSF at high molecular, spatial, and temporal...
March & April 2023
A Preliminary Study of Mild Heat Stress on Inflammasome Activation in Murine Macrophages. Cells. Woolf Lab. Epilepsy Severity Is Associated With Head Circumference and Growth Rate in Infants With Tuberous Sclerosis Complex. Pediatric Neurology. Sahin Lab....
January & February 2023
CDKL5 sculpts functional callosal connectivity to promote cognitive flexibility. Molecular Psychiatry. Fagiolini & Umemori Labs. Common mouse models of tauopathy reflect early but not late human disease. Molecular Neurodegeneration. Steen Lab Cross-talk...
July – December 2022
Structured cerebellar connectivity supports resilient pattern separation. Nature. Lee Lab. DEPDC5-dependent mTORC1 signaling mechanisms are critical for the anti-seizure effects of acute fasting. Cell Reports. Sahin Lab. Core transcription programs controlling...
January – June 2022
Overlapping transcriptional programs promote survival and axonal regeneration of injured retinal ganglion cells. Neuron. Z. He Lab. Automated preclinical detection of mechanical pain hypersensitivity and analgesia. Pain. Woolf Lab. ASD/OCD-Linked Protocaherin-10...
November & December 2021
Posttranslational Modifications Mediate the Structural Diversity of Taupathy Strains. Cell. Steen Lab. Neuronal Loss of the Glutamate Transporter GLT-1 Promotes Excitotoxic Injury in the Hippocampus. Frontiers in Cellular Neuroscience. Rosenberg Lab. A multiparametric...
September & October 2021
Nuclear IMPDH Filaments in Human Gliomas. Journal of Neuropathology & Experimental Neurology. Engle Lab. Functional architecture of neural circuits for leg proprioception in Drosophila. Cell Press. Lee Lab. Retinal Ganglion Cell Axon Regeneration Requires...