Dysregulation of WNT/WG signaling in neurological diseases and its potential relevance to NEDAMSS-associated brain pathology.
Disease
Role of WNT/WG signaling
Key references
Implications for NEDAMSS
Alzheimer’s disease (AD)
Promotes synaptic plasticity, neuronal survival, neurogenesis, and BBB integrity; suppresses amyloid-β and tau pathology. Dysregulation accelerates synaptic loss and neurodegeneration.
Provides a mechanistic basis for WNT-linked dopaminergic vulnerability in NEDAMSS, potentially explaining dystonia, tremor, and Parkinsonian features.
Neuropsychiatric disorders (NSD)
WNT pathway dysregulation is associated with schizophrenia, bipolar disorder, and others, affecting cortical development and higher-order brain function.
BBB: blood-brain barrier; NEDAMSS: Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech, and Seizures; WNT/WG: Wingless-related integration site.
Declarations
Acknowledgments
The authors acknowledge the support of the Tough Genes Foundation (Petersburg, MI, USA). As our first scientific contribution on behalf of the Foundation, this review reflects our commitment to advancing understanding of NEDAMSS and informing future diagnostic and therapeutic efforts. We also acknowledge the foundational contributions of Dr. Manoj Pandey’s previous laboratory in the Division of Human Genetics at Cincinnati Children’s Hospital Medical Center (Cincinnati, OH, USA). We thank Vian Pandey for assistance with manuscript editing and express our gratitude to the patients and families whose experiences continue to guide progress in this ultra-rare disorder.
Author contributions
MJSC: Writing—original draft. AFM: Data curation, Formal analysis. MKP: Conceptualization, Methodology, Supervision, Resources, Writing—original draft, Writing—review & editing, Data curation, Visualization, Project administration. All authors reviewed and approved the final manuscript and agreed to its submission.
Conflicts of interest
The authors declare that there are no competing interests.
Open Exploration maintains a neutral stance on jurisdictional claims in published institutional affiliations and maps. All opinions expressed in this article are the personal views of the author(s) and do not represent the stance of the editorial team or the publisher.
References
Sinha Ray S, Dutta D, Dennys C, Powers S, Roussel F, Lisowski P, et al. Mechanisms of IRF2BPL-related disorders and identification of a potential therapeutic strategy.Cell Rep. 2022;41:111751. [DOI] [PubMed]
Bauersachs D, Bomholtz L, Del Rey Mateos S, Kühn R, Lisowski P. Novel human neurodevelopmental and neurodegenerative disease associated with IRF2BPL gene variants-mechanisms and therapeutic avenues.Front Neurosci. 2024;18:1426177. [DOI] [PubMed] [PMC]
Ramalho-Oliveira R, Oliveira-Vieira B, Viola JPB. IRF2BP2: A new player in the regulation of cell homeostasis.J Leukoc Biol. 2019;106:717–23. [DOI] [PubMed]
Pastor TP, Peixoto BC, Viola JPB. The Transcriptional Co-factor IRF2BP2: A New Player in Tumor Development and Microenvironment.Front Cell Dev Biol. 2021;9:655307. [DOI] [PubMed] [PMC]
Barysch SV, Stankovic-Valentin N, Miedema T, Karaca S, Doppel J, Nait Achour T, et al. Transient deSUMOylation of IRF2BP proteins controls early transcription in EGFR signaling.EMBO Rep. 2021;22:e49651. [DOI] [PubMed] [PMC]
Vanagunas T, Seiwert EU, Larsh TR, Marcogliese PC, Pena LDM. IRF2BPL-Related Disorder. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews®. Seattle: University of Washington; 1993. [PubMed]
Horovitz DDG, de Faria Domingues de Lima MA, Pires LC, Campos Araujo AQ, Vargas FR. Neurological Phenotypes of IRF2BPL Gene Variants: A Report of Four Novel Variants.J Cent Nerv Syst Dis. 2023;15:11795735231181467. [DOI] [PubMed] [PMC]
Shelkowitz E, Singh JK, Larson A, Elias ER. IRF2BPL gene mutation: Expanding on neurologic phenotypes.Am J Med Genet A. 2019;179:2263–71. [DOI] [PubMed]
Marcogliese PC, Shashi V, Spillmann RC, Stong N, Rosenfeld JA, Koenig MK, et al. IRF2BPL Is Associated with Neurological Phenotypes.Am J Hum Genet. 2018;103:245–60. [DOI] [PubMed] [PMC]
Tran Mau-Them F, Guibaud L, Duplomb L, Keren B, Lindstrom K, Marey I, et al. De novo truncating variants in the intronless IRF2BPL are responsible for developmental epileptic encephalopathy.Genet Med. 2019;21:1008–14. [DOI] [PubMed]
Qian XH, Liu XY, Zhu ZY, Wang SG, Song XX, Chen G, et al. Neurodevelopmental disorder caused by a truncating de novo variant of IRF2BPL.Seizure. 2021;84:47–52. [DOI] [PubMed]
Marcogliese PC, Dutta D, Ray SS, Dang NDP, Zuo Z, Wang Y, et al. Loss of IRF2BPL impairs neuronal maintenance through excess Wnt signaling.Sci Adv. 2022;8:eabl5613. [DOI] [PubMed] [PMC]
Pascual DM, Jebreili Rizi D, Kaur H, Marcogliese PC. Excess Wnt in neurological disease.Biochem J. 2025;482:601–18. [DOI] [PubMed] [PMC]
Mahdiannasser M, Rashidi-Nezhad A, Badv RS, Akrami SM. Exploring the genetic etiology of drug-resistant epilepsy: incorporation of exome sequencing into practice.Acta Neurol Belg. 2022;122:1457–68. [DOI] [PubMed]
Higashimori A, Dong Y, Zhang Y, Kang W, Nakatsu G, Ng SSM, et al. Forkhead Box F2 Suppresses Gastric Cancer through a Novel FOXF2-IRF2BPL-β-Catenin Signaling Axis.Cancer Res. 2018;78:1643–56. [DOI] [PubMed]
Heger S, Mastronardi C, Dissen GA, Lomniczi A, Cabrera R, Roth CL, et al. Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis.J Clin Invest. 2007;117:2145–54. [DOI] [PubMed] [PMC]
Li C, Li P. Enhanced at Puberty-1 (Eap1) Expression Critically Regulates the Onset of Puberty Independent of Hypothalamic Kiss1 Expression.Cell Physiol Biochem. 2017;43:1402–12. [DOI] [PubMed]
Mancini A, Howard SR, Cabrera CP, Barnes MR, David A, Wehkalampi K, et al. EAP1 regulation of GnRH promoter activity is important for human pubertal timing.Hum Mol Genet. 2019;28:1357–68. [DOI] [PubMed] [PMC]
von Bohlen Und Halbach O, Klausch M. The Neurotrophin System in the Postnatal Brain-An Introduction.Biology (Basel). 2024;13:558. [DOI] [PubMed] [PMC]
Pavlinkova G, Smolik O. NEUROD1: transcriptional and epigenetic regulator of human and mouse neuronal and endocrine cell lineage programs.Front Cell Dev Biol. 2024;12:1435546. [DOI] [PubMed] [PMC]
Li Q, Smith JT, Henry B, Rao A, Pereira A, Clarke IJ. Expression of genes for Kisspeptin (KISS1), Neurokinin B (TAC3), Prodynorphin (PDYN), and gonadotropin inhibitory hormone (RFRP) across natural puberty in ewes.Physiol Rep. 2020;8:e14399. [DOI] [PubMed] [PMC]
Ojeda SR, Dubay C, Lomniczi A, Kaidar G, Matagne V, Sandau US, et al. Gene networks and the neuroendocrine regulation of puberty.Mol Cell Endocrinol. 2010;324:3–11. [DOI] [PubMed] [PMC]
Tanaka T, Chung HL. Exploiting fly models to investigate rare human neurological disorders.Neural Regen Res. 2025;20:21–8. [DOI] [PubMed] [PMC]
Iwama K, Kato M, Uchiyama Y, Sakamoto M, Miyamoto R, Izumi Y, et al. Clinical and genetic spectrum of patients with IRF2BPL syndrome.J Hum Genet. 2025;70:181–8. [DOI] [PubMed]
Alatrash S, Street D, O’Driscoll M, Samra AD. Late-Onset Ataxia, Chorea, Cognitive Impairment, and Insomnia: Expanding the Phenotype of IRF2BPL-Related Disease.J Mov Disord. 2025;18:274–6. [DOI] [PubMed] [PMC]
Heide S, Davoine CS, Cunha P, Scherer-Gagou C, Keren B, Stevanin G, et al. IRF2BPL Causes Mild Intellectual Disability Followed by Late-Onset Ataxia.Neurol Genet. 2023;9:e200096. [DOI] [PubMed] [PMC]
Costa C, Oliver KL, Calvello C, Cameron JM, Imperatore V, Tonelli L, et al. IRF2BPL: A new genotype for progressive myoclonus epilepsies.Epilepsia. 2023;64:e164–9. [DOI] [PubMed]
Gardella E, Michelucci R, Christensen HM, Fenger CD, Reale C, Riguzzi P, et al. IRF2BPL as a novel causative gene for progressive myoclonus epilepsy.Epilepsia. 2023;64:e170–6. [DOI] [PubMed]
Venkateswaran S, Michaud J, Ito Y, Geraghty M, Lewis EC, Ellezam B, et al. IRF2BPL-Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLA.Mov Disord. 2024;39:2102–9. [DOI] [PubMed]
Wang Y, Ke Z, Li Y, Qiu M, Liu J, Yang Z, et al. De novo variants of IRF2BPL result in developmental epileptic disorder.Orphanet J Rare Dis. 2024;19:121. [DOI] [PubMed] [PMC]
Pisano S, Melis M, Figorilli M, Polizzi L, Rocchi L, Giglio S, et al. Neurological phenomenology of the IRF2BPL mutation syndrome: Analysis of a new case and systematic review of the literature.Seizure. 2022;99:12–5. [DOI] [PubMed]
Ganos C, Zittel S, Hidding U, Funke C, Biskup S, Bhatia KP. IRF2BPL mutations cause autosomal dominant dystonia with anarthria, slow saccades and seizures.Parkinsonism Relat Disord. 2019;68:57–9. [DOI] [PubMed]
Lou X, Li W, Pang M, Wang Y, Zhu X, Geng J. Clinical characterization of IRF2BPL mutation: Case series and review of the literature.Medicine (Baltimore). 2025;104:e41078. [DOI] [PubMed] [PMC]
Kristiansen K, Vernal DL, Hulgaard DR. Expanding the phenotype of NEDAMSS with a psychiatric perspective: analysis of a new case, and a systematic review of the literature.Eur Child Adolesc Psychiatry. 2025;34:835–52. [DOI] [PubMed]
Mascalchi M. MRI CNS Atrophy Pattern and the Etiologies of Progressive Ataxias.Tomography. 2022;8:423–37. [DOI] [PubMed] [PMC]
Poretti A, Blaser SI, Lequin MH, Fatemi A, Meoded A, Northington FJ, et al. Neonatal neuroimaging findings in inborn errors of metabolism.J Magn Reson Imaging. 2013;37:294–312. [DOI] [PubMed] [PMC]
Keener AB. Whole-genome sequencing susses out rare diseases.Nature. 2025;[Epub ahead of print]. [DOI] [PubMed]
Liu Y, Yang Y, Lin Y, Wei B, Hu X, Xu L, et al. N6-methyladenosine-modified circRNA RERE modulates osteoarthritis by regulating β-catenin ubiquitination and degradation.Cell Prolif. 2023;56:e13297. [DOI] [PubMed] [PMC]
Tapia-Rojas C, Inestrosa NC. Wnt signaling loss accelerates the appearance of neuropathological hallmarks of Alzheimer’s disease in J20-APP transgenic and wild-type mice.J Neurochem. 2018;144:443–65. [DOI] [PubMed]
Garner B, Ooi L. Wnt is here! Could Wnt signalling be promoted to protect against Alzheimer disease?J Neurochem. 2018;144:356–9. [DOI] [PubMed]
Palomer E, Buechler J, Salinas PC. Wnt Signaling Deregulation in the Aging and Alzheimer's Brain.Front Cell Neurosci. 2019;13:227. [DOI] [PubMed] [PMC]
Narvaes RF, Furini CRG. Role of Wnt signaling in synaptic plasticity and memory.Neurobiol Learn Mem. 2022;187:107558. [DOI] [PubMed]
Caracci MO, Ávila ME, De Ferrari GV. Synaptic Wnt/GSK3β Signaling Hub in Autism.Neural Plast. 2016;2016:9603751. [DOI] [PubMed] [PMC]
Caracci MO, Avila ME, Espinoza-Cavieres FA, López HR, Ugarte GD, De Ferrari GV. Wnt/β-Catenin-Dependent Transcription in Autism Spectrum Disorders.Front Mol Neurosci. 2021;14:764756. [DOI] [PubMed] [PMC]
Bou Najm D, Alame S, Takash Chamoun W. Unraveling the Role of Wnt Signaling Pathway in the Pathogenesis of Autism Spectrum Disorder (ASD): A Systematic Review.Mol Neurobiol. 2025;62:4971–92. [DOI] [PubMed]
Park G, Jang WE, Kim S, Gonzales EL, Ji J, Choi S, et al. Dysregulation of the Wnt/β-catenin signaling pathway via Rnf146 upregulation in a VPA-induced mouse model of autism spectrum disorder.Exp Mol Med. 2023;55:1783–94. [DOI] [PubMed] [PMC]
Vallée A, Vallée JN, Lecarpentier Y. PPARγ agonists: potential treatment for autism spectrum disorder by inhibiting the canonical WNT/β-catenin pathway.Mol Psychiatry. 2019;24:643–52. [DOI] [PubMed]
L’Episcopo F, Tirolo C, Testa N, Caniglia S, Morale MC, Serapide MF, et al. Wnt/β-catenin signaling is required to rescue midbrain dopaminergic progenitors and promote neurorepair in ageing mouse model of Parkinson’s disease.Stem Cells. 2014;32:2147–63. [DOI] [PubMed] [PMC]
L’Episcopo F, Tirolo C, Caniglia S, Testa N, Morale MC, Serapide MF, et al. Targeting Wnt signaling at the neuroimmune interface for dopaminergic neuroprotection/repair in Parkinson’s disease.J Mol Cell Biol. 2014;6:13–26. [DOI] [PubMed] [PMC]
Panaccione I, Napoletano F, Forte AM, Kotzalidis GD, Del Casale A, Rapinesi C, et al. Neurodevelopment in schizophrenia: the role of the wnt pathways.Curr Neuropharmacol. 2013;11:535–58. [DOI] [PubMed] [PMC]
Hoseth EZ, Krull F, Dieset I, Mørch RH, Hope S, Gardsjord ES, et al. Exploring the Wnt signaling pathway in schizophrenia and bipolar disorder.Transl Psychiatry. 2018;8:55. [DOI] [PubMed] [PMC]
Manafzadeh F, Baradaran B, Noor Azar SG, Javidi Aghdam K, Dabbaghipour R, Shayannia A, et al. Expression study of Wnt/β-catenin signaling pathway associated lncRNAs in schizophrenia.Ann Gen Psychiatry. 2025;24:4. [DOI] [PubMed] [PMC]
Hussaini SMQ, Choi CI, Cho CH, Kim HJ, Jun H, Jang MH. Wnt signaling in neuropsychiatric disorders: ties with adult hippocampal neurogenesis and behavior.Neurosci Biobehav Rev. 2014;47:369–83. [DOI] [PubMed] [PMC]
Zhang W, Xiao D, Mao Q, Xia H. Role of neuroinflammation in neurodegeneration development.Signal Transduct Target Ther. 2023;8:267. [DOI] [PubMed] [PMC]
Manoj Kumar P. Complement Inhibition Expands the Therapeutic Window of Amyloid-β Immunotherapy in Alzheimer’s Disease.Discovery Med. 2025;37:1409–15. [DOI]
Pandey MK. The Role of Alpha-Synuclein Autoantibodies in the Induction of Brain Inflammation and Neurodegeneration in Aged Humans.Front Aging Neurosci. 2022;14:902191. [DOI] [PubMed] [PMC]
Hatton SL, Pandey MK. Fat and Protein Combat Triggers Immunological Weapons of Innate and Adaptive Immune Systems to Launch Neuroinflammation in Parkinson’s Disease.Int J Mol Sci. 2022;23:1089. [DOI] [PubMed] [PMC]
Magnusen AF, Hatton SL, Rani R, Pandey MK. Genetic Defects and Pro-inflammatory Cytokines in Parkinson’s Disease.Front Neurol. 2021;12:636139. [DOI] [PubMed] [PMC]
Magnusen D, Nyamajenjere T, Rapien J, Mckay M, Magnusen A, Pandey M. Dendritic cells, CD4+ T cells, and α synuclein triangle fuels neuroinflammation in Parkinson’s disease (P3.053).Neurology. 2018;90:P3.053. [DOI]
Su R, Zhou T. Alpha-Synuclein Induced Immune Cells Activation and Associated Therapy in Parkinson’s Disease.Front Aging Neurosci. 2021;13:769506. [DOI] [PubMed] [PMC]
Currais A, Fischer W, Maher P, Schubert D. Intraneuronal protein aggregation as a trigger for inflammation and neurodegeneration in the aging brain.FASEB J. 2017;31:5–10. [DOI] [PubMed] [PMC]
Ciryam P, Tartaglia GG, Morimoto RI, Dobson CM, Vendruscolo M. Widespread aggregation and neurodegenerative diseases are associated with supersaturated proteins.Cell Rep. 2013;5:781–90. [DOI] [PubMed] [PMC]
García-González P, Cabral-Miranda F, Hetz C, Osorio F. Interplay Between the Unfolded Protein Response and Immune Function in the Development of Neurodegenerative Diseases.Front Immunol. 2018;9:2541. [DOI] [PubMed] [PMC]
Koszła O, Sołek P. Misfolding and aggregation in neurodegenerative diseases: protein quality control machinery as potential therapeutic clearance pathways.Cell Commun Signal. 2024;22:421. [DOI] [PubMed] [PMC]
Dimoula K, Papagiannakis N, Maniati M, Stefanis L, Emmanouilidou E. Aggregated α-synuclein in erythrocytes as a potential biomarker for idiopathic Parkinson’s Disease.Parkinsonism Relat Disord. 2025;133:107321. [DOI] [PubMed]
Srinivasan E, Chandrasekhar G, Chandrasekar P, Anbarasu K, Vickram AS, Karunakaran R, et al. Alpha-Synuclein Aggregation in Parkinson’s Disease.Front Med (Lausanne). 2021;8:736978. [DOI] [PubMed] [PMC]
Mehra S, Sahay S, Maji SK. α-Synuclein misfolding and aggregation: Implications in Parkinson’s disease pathogenesis.Biochim Biophys Acta Proteins Proteom. 2019;1867:890–908. [DOI] [PubMed]
Bloom GS. Amyloid-β and tau: the trigger and bullet in Alzheimer disease pathogenesis.JAMA Neurol. 2014;71:505–8. [DOI] [PubMed] [PMC]
He Z, Guo JL, McBride JD, Narasimhan S, Kim H, Changolkar L, et al. Amyloid-β plaques enhance Alzheimer’s brain tau-seeded pathologies by facilitating neuritic plaque tau aggregation.Nat Med. 2018;24:29–38. [DOI] [PubMed] [PMC]
Wong YC, Krainc D. α-synuclein toxicity in neurodegeneration: mechanism and therapeutic strategies.Nat Med. 2017;23:1–13. [DOI] [PubMed] [PMC]
Vilkaite G, Vogel J, Mattsson-Carlgren N. Integrating amyloid and tau imaging with proteomics and genomics in Alzheimer’s disease.Cell Rep Med. 2024;5:101735. [DOI] [PubMed] [PMC]
Villemagne VL, Doré V, Burnham SC, Masters CL, Rowe CC. Imaging tau and amyloid-β proteinopathies in Alzheimer disease and other conditions.Nat Rev Neurol. 2018;14:225–36. [DOI] [PubMed]
Chinnathambi S, Adithyan A, Chandrashekar M, Rangappa N. Tau and Amyloid beta causes microglial activation in Alzheimer’s disease.Adv Clin Chem. 2025;128:83–107. [DOI] [PubMed]
Franzmeier N, Roemer-Cassiano SN, Bernhardt AM, Dehsarvi A, Dewenter A, Steward A, et al. Alpha synuclein co-pathology is associated with accelerated amyloid-driven tau accumulation in Alzheimer’s disease.Mol Neurodegener. 2025;20:31. [DOI] [PubMed] [PMC]
Pandey MK. Exploring Pro-Inflammatory Immunological Mediators: Unraveling the Mechanisms of Neuroinflammation in Lysosomal Storage Diseases.Biomedicines. 2023;11:1067. [DOI] [PubMed] [PMC]
Alfaidi M, Barker RA, Kuan WL. An update on immune-based alpha-synuclein trials in Parkinson’s disease.J Neurol. 2024;272:21. [DOI] [PubMed] [PMC]
Castonguay AM, Gravel C, Lévesque M. Treating Parkinson’s Disease with Antibodies: Previous Studies and Future Directions.J Parkinsons Dis. 2021;11:71–92. [DOI] [PubMed] [PMC]
Sims JR, Zimmer JA, Evans CD, Lu M, Ardayfio P, Sparks J, et al.; TRAILBLAZER-ALZ 2 Investigators. Donanemab in Early Symptomatic Alzheimer Disease: The TRAILBLAZER-ALZ 2 Randomized Clinical Trial.JAMA. 2023;330:512–27. [DOI] [PubMed] [PMC]
Budd Haeberlein B, Aisen PS, Barkhof F, Chalkias S, Chen T, Cohen S, et al. Two Randomized Phase 3 Studies of Aducanumab in Early Alzheimer’s Disease.J Prev Alzheimers Dis. 2022;9:197–210. [DOI] [PubMed]
Mintun MA, Lo AC, Duggan Evans C, Wessels AM, Ardayfio PA, Andersen SW, et al. Donanemab in Early Alzheimer’s Disease.N Engl J Med. 2021;384:1691–704. [DOI] [PubMed]
van Dyck CH, Swanson CJ, Aisen P, Bateman RJ, Chen C, Gee M, et al. Lecanemab in Early Alzheimer’s Disease.N Engl J Med. 2023;388:9–21. [DOI] [PubMed]
Vitek GE, Decourt B, Sabbagh MN. Lecanemab (BAN2401): an anti-beta-amyloid monoclonal antibody for the treatment of Alzheimer disease.Expert Opin Investig Drugs. 2023;32:89–94. [DOI] [PubMed] [PMC]
Schofield DJ, Irving L, Calo L, Bogstedt A, Rees G, Nuccitelli A, et al. Preclinical development of a high affinity α-synuclein antibody, MEDI1341, that can enter the brain, sequester extracellular α-synuclein and attenuate α-synuclein spreading in vivo.Neurobiol Dis. 2019;132:104582. [DOI] [PubMed]
Buur L, Wiedemann J, Larsen F, Ben Alaya-Fourati F, Kallunki P, Ditlevsen DK, et al. Randomized Phase I Trial of the α-Synuclein Antibody Lu AF82422.Mov Disord. 2024;39:936–44. [DOI] [PubMed]
Pagano G, Taylor KI, Anzures Cabrera J, Simuni T, Marek K, Postuma RB, et al.; Prasinezumab Study Group. Prasinezumab slows motor progression in rapidly progressing early-stage Parkinson’s disease.Nat Med. 2024;30:1096–103. [DOI] [PubMed] [PMC]
Weihofen A, Liu Y, Arndt JW, Huy C, Quan C, Smith BA, et al. Development of an aggregate-selective, human-derived α-synuclein antibody BIIB054 that ameliorates disease phenotypes in Parkinson’s disease models.Neurobiol Dis. 2019;124:276–88. [DOI] [PubMed]
Brys M, Fanning L, Hung S, Ellenbogen A, Penner N, Yang M, et al. Randomized phase I clinical trial of anti-α-synuclein antibody BIIB054.Mov Disord. 2019;34:1154–63. [DOI] [PubMed] [PMC]
Lindström V, Fagerqvist T, Nordström E, Eriksson F, Lord A, Tucker S, et al. Immunotherapy targeting α-synuclein protofibrils reduced pathology in (Thy-1)-h[A30P] α-synuclein mice.Neurobiol Dis. 2014;69:134–43. [DOI] [PubMed]
Cummings J, Osse AML, Cammann D, Powell J, Chen J. Anti-Amyloid Monoclonal Antibodies for the Treatment of Alzheimer’s Disease.BioDrugs. 2024;38:5–22. [DOI] [PubMed] [PMC]
Yang F, Li H, Dai Y, Zhang R, Zhang JT. IRF2BPL gene variants with dystonia: one new Chinese case report.BMC Neurol. 2023;23:32. [DOI] [PubMed] [PMC]
Sainio MT, Aaltio J, Hyttinen V, Kortelainen M, Ojanen S, Paetau A, et al. Effectiveness of clinical exome sequencing in adult patients with difficult-to-diagnose neurological disorders.Acta Neurol Scand. 2022;145:63–72. [DOI] [PubMed]
