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 CFagiolini 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 

Peripheral nerve transection predominantly drives sympathetic nerve sprouting in mouse dorsal root ganglia.

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 

PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.

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 JSchwarz 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

Early differential impact of MeCP2 mutations on functional networks in Rett syndrome patient-derived human cortical organoids.

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 

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 Apr 17. doi: 10.1002/ana.78213. Online ahead of print.PMID: 41992961

Frequency-specific electromagnetic modulation of brain redox state precedes cortical activity in stroke recovery.

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

Kinetochore proteins control microtubule dynamics in postmitotic neurons to regulate the formation of dendritic spines.

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