F.M. Kirby Neurobiology Center

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.

Kirby Center News: Publications

July 2026

Targeting Gi/o-coupled GPCRs to inhibit nociceptors: Insights from the serotonin receptor Htr1b and triptans.
Peng J, Sanchez BT, Chirila AM, Zeng X, DeLisle MM, Qi L, Xiao JY, Lezgiyeva K, Low SA, Woolf CJ, Sharma N, Ginty DD. Cell Rep Med. 2026 Jul 30:102949. doi: 10.1016/j.xcrm.2026.102949. Online ahead of print.PMID: 42532046 

Combination Intrathecal Pharmacotherapy for Refractory Status Dystonicus in Dyskinetic Cerebral Palsy.
Papoff F, Bernardi K, Buxton K, Cook S, Northam W, Stone S, Berde C, Ebrahimi-Fakhari D, Yang K. Mov Disord Clin Pract. 2026 Jul 29:10.1002/mdc3.70753. doi: 10.1002/mdc3.70753. Online ahead of print.PMID: 42527375 No abstract available.

 Outcomes of Bilateral Globus Pallidus Internus Deep Brain Stimulation in GNAO1-Related Disorder: An International Multicenter Experience.
Bernardi K, Rong J, Northam WT, Kamińska M, Hasegawa H, Domínguez-Carral J, Vogt LM, Dijk JM, Beudel M, Chauvet-Piat E, Seng EC, Poulen G, Mahant N, Garone G, Pauni M, Rodríguez J, Munoz-Chesta D, Jones HF, De la Casa-Fages B, Miranda-Herrero MC, Jennions E, Lim WK, Zea Vera A, Mohammad S, Schuurman R, van de Pol LA, Roubertie A, Ibrahim GM, Gorodetsky C, Thiel M, Koy A, Ortigoza-Escobar JD, Lin JP, Lumsden DE, Ebrahimi-Fakhari D, Yang K. Ann Neurol. 2026 Jul 27. doi: 10.1002/ana.78310. Online ahead of print.PMID: 42505019

 KIF1A-Associated Neurological Disorder (KAND): Spectrum of Movement and Motor Disorders in a Cohort of 51 Patients.
Bernardi K, Ribeiro G, Battaglia N, Waxler J, Tam A, Rong J, Saez-Diez EG, Cameron C, Ferrer-Socorro M, Zaman Z, Agianda HAP, Quiroz V, Yang K, Chung WK, Ebrahimi-Fakhari D. Mov Disord. 2026 Jul 25. doi: 10.1002/mds.70420. Online ahead of print.PMID: 42500835

 From Infancy to Early School Age: Longitudinal Developmental Outcomes and Autism Diagnostic Stability in Tuberous Sclerosis Complex.
Capal JK, Ritter DM, Horn PS, Currans K, Kent B, Pearson DA, Mansour R, O’Kelley SE, Sahin M, Bebin EM, Rajaraman R, Porter BE, Northrup H, Krueger DA; TACERN Study Group; RDCRN Study Group. Pediatr Neurol. 2026 Jul 24;183:1-9. doi: 10.1016/j.pediatrneurol.2026.07.001. Online ahead of print.PMID: 42497524

 CRISPR/Cas9 loss-of-function screen in a neuronal model of AP-4 deficiency identifies ATG9A trafficking modulators.
Ziegler M, Günter C, Alecu JE, Xue X, Kim HM, Saffari A, Davies AK, Sahin MEbrahimi-Fakhari D. JCI Insight. 2026 May 19;11(14):e202204. doi: 10.1172/jci.insight.202204. eCollection 2026 Jul 22.PMID: 42154535 

Genetic Counselor Utilization Across Non-Genetics Departments for Neurodevelopmental Disorders.
Cole JJ, Cohen JS, Sahin M, Srivastava S, Campbell CA. medRxiv [Preprint]. 2026 Jul 21:2026.07.20.26358492. doi: 10.64898/2026.07.20.26358492. PMID: 42539083 

 Progressive Parkinsonism in PPP2R5D-Related Neurodevelopmental Disorder.
Bernardi K, Gonzalez Saez-Diez E, Rong J, Ay B, Merchant S, Yang K, Ebrahimi-Fakhari D. Ann Clin Transl Neurol. 2026 Jul 17:10.1002/acn3.70492. doi: 10.1002/acn3.70492. Online ahead of print.PMID: 42467642 

 Following Severe Pediatric Malaria, Epilepsy Screening Is Needed Even Among Children Without Coma: Findings From a Prospective Cohort Study.
Patel AA, Nishat S, Joshi RB, Mwanza S, Kasolo J, Masempela A, Musakanya T, Mwale T, Nambeye V, Nyirongo R, Tembo RG, O’Brien N, Seydel KB, Cortina C, Zhang B, Mazumdar M, Rotenberg A, Birbeck GL. J Cent Nerv Syst Dis. 2026 Jul 10;18:11795735261467520. doi: 10.1177/11795735261467520. eCollection 2026.PMID: 42436689 

 Protocol to prepare inclusion complex-enhanced cannabinoid nano-micelles for behavioral pharmacology and in vivo neurophysiology in mice.
Feng J, Page J, Chung L, He Z, Wang KH. STAR Protoc. 2026 Jul 1;7(3):104650. doi: 10.1016/j.xpro.2026.104650. Online ahead of print.PMID: 42384494 

 Derivation of elephant induced pluripotent stem cells.
Appleton E, Korover N, Hong K, Ambriz-Peña X, Tanaka Y, Ashkenazy-Titelman A, Rasmussen-Ivey C, Rodríguez-Caycedo C, Bhide K, Bai H, Queiroz A, Nelson JW, Rathod G, Morgan M, Mastracci A, Nelson TM, Knox G, McNutt B, Malviya N, Zhang K, Kowalczyk A, Bow A, McLendon B, Slamecka J, Ryon K, Proszynski J, Houerbi N, Kleinman AS, Poon CL, Kiso W, James M, Park IH, Gray C, Pearson VR, Mason CE, Cantarel BL, Koehler KR, Shapiro B, Kehler J, Lamm B, Church G, Hysolli E. Nat Methods. 2026 Jul;23(7):1399-1410. doi: 10.1038/s41592-026-03136-4. Epub 2026 Jun 22.PMID: 42332088

 Astrocyte glucocorticoid receptor signalling restricts neuronal plasticity.
Gegenhuber B, Sonoda T, Traunmüller L, Davis CP, Koren SA, Griffith EC, Chen C, Greenberg ME. Nature. 2026 Jul;655(8125):1233-1241. doi: 10.1038/s41586-026-10512-9. Epub 2026 May 20.PMID: 42162428 

 Quantitative electroencephalographic measures during postmalarial epileptogenesis.
Joshi RB, Mwanza S, Zaveri HP, Kasolo J, Masempela A, Musakanya T, Mwale T, Nambeye V, Nyriongo R, Tembo RA, Cortina C, Zhang B, Birbeck GL, Rotenberg A, Patel AA. Epilepsia. 2026 Jul;67(7):3602-3611. doi: 10.1002/epi.70257. Epub 2026 May 7.PMID: 42095801 

A two-step temporal data augmentation and supervised learning framework for predicting autism diagnosis at 36 months in patients with tuberous sclerosis complex.
Zhang C, Wang R, Capal JK, Srivastava S, Filip-Dhima R, Bebin EM, Krueger DA, Northrup H, Wu JY, Warfield SK, Sahin M, Zhang B; TACERN Study Group. Comput Biol Med. 2026 Jul 1;210:111719. doi: 10.1016/j.compbiomed.2026.111719. Epub 2026 May 5.PMID: 42090945

 Longitudinal Phenotypic Trajectories in GNAO1-Related Disorders: Defining Disease Progression and Clinical Profiles.
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 Jul;100(1):154-170. doi: 10.1002/ana.78213. Epub 2026 Apr 17.PMID: 41992961 

 Psychosocial outcomes after targeted muscle reinnervation in patients with neuropathic pain.
Raasveld FV, Yu TH, Ho J, Gomez-Eslava B, Mayrhofer-Schmid M, Woolf CJ, Renthal W, Hao D, Valerio IL, Eberlin KR. Pain Med. 2026 Jul 1;27(7):814-827. doi: 10.1093/pm/pnag023.PMID: 41652895

 Childhood-Onset Cerebellar Ataxia from Homozygous XRCC1 c.1293G>C Variant.
Ribeiro G, Ferrer-Socorro M, Tam A, Rong J, Saez-Diez EG, Ebrahimi-Fakhari D, Yang K. Mov Disord Clin Pract. 2026 Jul;13(7):1776-1778. doi: 10.1002/mdc3.70551. Epub 2026 Feb 3.PMID: 41631675 

July 2026

Targeting Gi/o-coupled GPCRs to inhibit nociceptors: Insights from the serotonin receptor Htr1b and triptans.Peng J, Sanchez BT, Chirila AM, Zeng X, DeLisle MM, Qi L, Xiao JY, Lezgiyeva K, Low SA, Woolf CJ, Sharma N, Ginty DD. Cell Rep Med. 2026 Jul 30:102949. doi:...

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June 2026

Loss of SARM1 Improves Phenotypes in a Mouse Model of Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. Ndiaye PS, Paul S, Zhao G, Ding C, Pulst SM, Schwarz T. Neurol Genet. 2026 Jun 9;12(4):e200400. doi: 10.1212/NXG.0000000000200400. eCollection 2026 Aug....

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May 2026

DBSMatchMaker: Global Uptake and Insights from the First Year of a Collaborative Deep Brain Stimulation Platform. Rong J, Bernardi K, Ebrahimi-Fakhari D, Yang K. Mov Disord. 2026 May;41(5):1294-1298. doi: 10.1002/mds.70180. Epub 2026 Jan 8.PMID: 41503826  Bilateral...

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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:...

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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,...

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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,...

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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,...

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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...

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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...

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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...

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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....

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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...

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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...

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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....

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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...

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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...

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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...

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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....

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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...

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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...

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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...

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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...

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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...

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