Brain

Papers
(The TQCC of Brain is 20. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2022-06-01 to 2026-06-01.)
ArticleCitations
Correction to: Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders450
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder319
Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1268
Source-sink connectivity: a novel interictal EEG marker for seizure localization234
Somatic variants of MAP3K3 are sufficient to cause cerebral and spinal cord cavernous malformations228
Peripherin is a biomarker of axonal damage in Guillain-Barré syndrome: a pathophysiological annotation223
We’re all in this together: a rejoinder to Masud Husain’s (rant) editorial213
Impaired ribosome-associated quality control of C9orf72 arginine-rich dipeptide-repeat proteins212
Methodological drawbacks in the alleged association between foetal sonographic anomalies and autism210
Reply: Is postural tachycardia syndrome a psychogenic disorder?; Notes on establishing fear conditioning as causal in the postural orthostatic tachycardia syndrome; Patients with POTS fear that data o207
Thalamic stereo EEG: a clinically justified extension of hypothesis-driven intracranial exploration193
Genetically identical twin-pair difference models support the amyloid cascade hypothesis189
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features180
In vivo self-assembled siRNAs ameliorate neurological pathology in TDP-43-associated neurodegenerative disease176
The inferior fronto-occipital fasciculus: bridging phylogeny, ontogeny and functional anatomy165
Cerebral amyloid angiopathy interacts with neuritic amyloid plaques to promote tau and cognitive decline162
Associations between accelerated forgetting, amyloid deposition and brain atrophy in older adults160
Global network and local vulnerabilities underlie brain atrophy across Parkinson’s disease stages159
Diffusion MRI tracks cortical microstructural changes during the early stages of Alzheimer’s disease153
Apathy, effort-based decisions and brain integrity in Alzheimer's and Parkinson's diseases153
‘Hippocampal innate inflammatory gliosis only’ in pharmacoresistant temporal lobe epilepsy151
Maternal microbiome-derived propionate regulates offspring myelination via histone lactylation144
Mapping the peripheral immune landscape of Parkinson’s disease patients with single-cell sequencing139
The vascular contribution of apolipoprotein E to Alzheimer’s disease135
A data-driven study of Alzheimer's disease related amyloid and tau pathology progression134
Dysfunction of the magnocellular subdivision of the visual thalamus in developmental dyslexia134
Dopamine and the dynamics of subthalamic and leg muscle activities in parkinsonian stepping129
Thalamostriatal disconnection underpins long-term seizure freedom in frontal lobe epilepsy surgery123
Optogenetic stimulation of the superior colliculus suppresses genetic absence seizures121
PET-MRI biomarkers reveal efficacy of a novel NLRP3 inhibitor in Parkinson’s disease models117
The RAB3A hot spot variant R83W causes spasticity as part of the ataxia-spasticity spectrum117
Deep brain stimulation: a tale of two targets … and closing the loop115
The use of optical coherence tomography in neurology: a review115
From bugs to brain: unravelling the GABA signalling networks in the brain–gut–microbiome axis113
Brain repair mechanisms after cell therapy for stroke111
Clinical dimensions along the non-fluent variant primary progressive aphasia spectrum108
Trigeminal nerve microstructure is linked with neuroinflammation and brainstem activity in migraine106
Lesion correlates of impaired acoustic-phonetic perception after unilateral left hemisphere stroke106
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes101
Brain cholesterol and Alzheimer's disease: challenges and opportunities in probe and drug development100
Dysregulated cortical excitability and tau phosphorylation in a β3 integrin mouse model of autism99
Speech and language markers of neurodegeneration: a call for global equity99
Integrative genomics reveals pathogenic mediator of valproate-induced neurodevelopmental disability98
Correction to: New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy98
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 4097
Cytotoxic T cells and plasma cells dominate early in temporal lobe epilepsy with GAD antibodies96
Demystifying interictal discharges and seizure initiation in focal epilepsy96
Reply: Unblinding in the lecanemab trial in Alzheimer’s disease93
Synaptic dysregulation in a mouse model of GRIN2D developmental and epileptic encephalopathy91
Multiple sclerosis in Denmark (1950–2023): mean age, sex distribution, incidence and prevalence89
Natural experiment on neuroinflammatory disease incidence and infection links pre- and post-COVID-1987
Routes of precursors’ migration in remyelination86
The three deceits of bureaucracy85
How COVID-19 affects microvessels in the brain84
New mechanistic insights into hereditary spastic paraplegias83
Extra-cranial cholinergic lesions in dementia with Lewy bodies83
Functional network reorganization precedes apathy in Parkinson’s disease: a neural marker of risk?82
Loss-of-function variants inMYCBP2cause neurobehavioural phenotypes and corpus callosum defects82
Preclinical type 2 diabetes mellitus subtypes: new insights into diabetes, depression and dementia82
Distinct contribution of spinal neuropeptide Y and NPY1R neurons to morphine analgesia77
Structural covariance analysis for neurodegenerative and neuroinflammatory brain disorders77
Midbrain cytotoxic T cells as a distinct neuropathological feature of progressive supranuclear palsy77
From phenomena to phrasing: rethinking seizure classification through history76
Clinical and MRI measures to identify non-acute MOG-antibody disease in adults76
The low dimensionality of post-stroke cognitive deficits: it’s the lesion anatomy!76
Periventricular remyelination failure in multiple sclerosis: a substrate for neurodegeneration76
Evolutionary perspectives on mRNA signatures of neurodegeneration-related brain remodelling76
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia76
Multifaceted nanoparticles: emerging mechanisms and therapies in neurodegenerative diseases75
Disruption of DNA methylation underpins the neuroinflammation induced by targeted CNS radiotherapy73
Multiple lines of evidence for disruption of nuclear lamina and nucleoporins in FUS amyotrophic lateral sclerosis73
Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing73
Multimodal mapping of regional brain vulnerability to focal cortical dysplasia72
A sensory neuron-specific long non-coding RNA reduces neuropathic pain by rescuing KCNN1 expression71
Clinical features and prognostic factors in adults with brain abscess71
Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients71
Rigidity in Parkinson’s disease69
Genome-wide association study of neuropathological features in Lewy body disease68
Normalization of network activity in an epilepsy model with a constitutively active GABBR2 variant68
Treatment-resistant recurrent unipolar and bipolar depression: associative learning abnormalities68
The interictal suppression hypothesis is the dominant differentiator of seizure onset zones in focal epilepsy68
Plasma pTau 217/β-amyloid 1–42 ratio for enhanced accuracy and reduced uncertainty in detecting amyloid pathology68
Long-term neuropsychological trajectories in children with epilepsy: does surgery halt decline?68
Integrative miRNA–mRNA profiling of human epidermis: unique signature of SCN9A painful neuropathy67
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder67
That which we call cortisol awakening response, by any other word would smell as sweet66
Cortical cerebral microinfarcts spark cognitive decline66
GGC repeat expansions in NOTCH2NLC cause uN2CpolyG cerebral amyloid angiopathy65
Cross-seeding by prion protein inactivates TDP-4365
Defective lipid signalling caused by mutations inPIK3C2Bunderlies focal epilepsy64
Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1–ADAM22/23 pathway64
Extracellular vesicle biomarkers for complement dysfunction in schizophrenia64
A generalizable data-driven model of atrophy heterogeneity and progression in memory clinic settings63
Multicentre analysis of seizure outcome predicted by removal of high-frequency oscillations63
Is glymphatic clearance the secret to restorative sleep?63
Neural stem cell therapies for spinal cord injury repair: an update on recent preclinical and clinical advances63
How modular are modules in visual cortex?62
Novel insight into TRPV1-induced mitochondrial dysfunction in neuropathic pain62
Activation and sensitization of meningeal nociceptors by PACAP-38: implications for migraine headache62
Hippocampal synaptic failure is an early event in experimental parkinsonism with subtle cognitive deficit62
Correction to: Sex-specific modulation of amyloid-β on tau phosphorylation underlies faster tangle accumulation in females61
From shadows to spotlight: the evolution of migraine stigma since the 17th century61
Correction to: Blood–brain barrier opening of the default mode network in Alzheimer's disease with magnetic resonance-guided focused ultrasound60
Correction to: Remyelination of chronic demyelinated lesions with directly induced neural stem cells60
A novel eye-movement impairment in multiple sclerosis indicating widespread cortical damage59
Multicompartmental models and diffusion abnormalities in paediatric mild traumatic brain injury59
Widespread white matter oedema in subacute COVID-19 patients with neurological symptoms58
Large-scale rare variant burden testing in Parkinson's disease58
Failure of C9orf72 sense repeat-targeting antisense oligonucleotides: lessons learned and the path forward58
The use of animals in neuroscience research58
Reply: Do we need new MRI criteria for the diagnosis of radiologically isolated syndrome?57
Untangling white matter fibre changes in Alzheimer's disease and small vessel disease57
Endosomal 2Cl−/H+ exchangers regulate neuronal excitability by tuning Kv7/KCNQ channel density57
Neuromelanin as a nidus for neurodegeneration57
Correction to: Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders57
Reply: The correlation of behavioural deficits post-stroke: a trivial issue?57
A journey towards the pot of gold57
Occludin modulates HIV and ischaemic stroke response via the mitochondrial antiviral signalling pathway56
Role of CD5 signalling for pro-inflammatory Th17 response in multiple sclerosis56
Reduced striatal dopamine transmission as a transdiagnostic substrate of psychomotor retardation56
JC virus spread is potentiated by glial replication and demyelination-linked glial proliferation56
Reply: Lecanemab: turning point, or status quo? An ethics perspective55
Distinct cerebellar networks underpin clinical improvement in adolescent Tourette disorder55
Sleep and seizure risk in epilepsy: bed and wake times are more important than sleep duration55
Common and distinct fronto-striatal volumetric changes in heroin and cocaine use disorders55
Anatomo-functional basis of emotional and motor resonance elicited by facial expressions55
The human subthalamic nucleus transiently inhibits active attentional processes54
White matter connections within the central sulcus subserving the somato-cognitive action network54
Effort avoidance as a core mechanism of apathy in frontotemporal dementia54
In silico versus functional characterization of genetic variants: lessons from muscle channelopathies54
Interferon-γ controls aquaporin 4-specific Th17 and B cells in neuromyelitis optica spectrum disorder54
The lysosomal β-glucocerebrosidase strikes mitochondria: implications for Parkinson’s therapeutics53
Age-related and amyloid-beta-independent tau deposition and its downstream effects53
Early onset hereditary neuronopathies: an update on non-5qmotor neuron diseases53
Estimating the time course of biomarker changes in Alzheimer’s disease53
Plasma VEGFA and PGF impact longitudinal tau and cognition in preclinical Alzheimer’s disease53
Cdc42GAP deficiency contributes to the Alzheimer’s disease phenotype52
Impaired value-based decision-making in Parkinson’s disease apathy52
Basal forebrain integrity, cholinergic innervation and cognition in idiopathic Parkinson’s disease52
Delineation of functionally essential protein regions for 242 neurodevelopmental genes52
Decoding inflammatory pathways in spinal muscular atrophy: implications for next-generation therapies52
Amyloid-β predominant Alzheimer’s disease neuropathologic change52
Neural basis of speech and grammar symptoms in non-fluent variant primary progressive aphasia spectrum52
Imaging chronic active lesions in multiple sclerosis: a consensus statement51
Nigrostriatal tau pathology in parkinsonism and Parkinson’s disease51
Misdirected yet intact TREX1 exonuclease activity causes human cerebral and systemic small vessel disease51
Genetic variability in sporadic amyotrophic lateral sclerosis51
Is it time to rename hereditary cases of cerebral palsy?51
Localizing epileptogenic tissues in epilepsy: are we losing (the) focus?50
A foothold in detection of limbic-predominant age-related TDP-43 encephalopathy50
Interleukin-17B is a new biomarker of human muscle regeneration in dystrophinopathies50
Tiam1 is part of a novel mechanism for morphine tolerance and hyperalgesia50
Understanding brain calcification via N-terminal acetylation at the Golgi apparatus49
Correction to: Bidirectional gut-to-brain and brain-to-gut propagation of synucleinopathy in non-human primates49
Bridging the gaps between JCV infection models and human disease49
Shedding light on a novel circuit within primary motor cortex as a target for neuromodulation49
The ‘secret connections’ of the brain: a connectomic reserve for neuroplasticity?48
The visual cortex in the blind but not the auditory cortex in the deaf becomes multiple-demand regions48
Four dimensions of naturalistic language production in aphasia after stroke48
Surgical white matter disruption leads to downstream atrophy in the non-resected human brain48
Biomarker evidence of neurodegeneration in mid-life former rugby players47
Sleep circuit modulation: from animal models to human translation47
USP25 in genetic generalized epilepsy: a gene under scrutiny47
Cul-4 inhibition rescues spastin levels and reduces defects in hereditary spastic paraplegia models47
Synaptic and cognitive impairment associated with L444P heterozygous glucocerebrosidase mutation47
Precision dynamics of predictive coding in functional neurological disorder47
Motor compensation in Parkinson’s disease: an empirical challenge with clinical implications47
CGRP signalling in migraine: time to look downstream?46
Thalamic stereo-EEG in epilepsy surgery: where do we stand?46
HDAC6 regulates BACE1 stability and NLRP3 inflammasome activation in Alzheimer’s disease46
Clinical and biochemical characterization of amyotrophic lateral sclerosis in a CHCHD10 R15L family46
Brain accumulation of lactosylceramide characterizes GALC deficiency in a zebrafish model of Krabbe disease46
Alzheimer proteopathic tau seeds are biochemically a forme fruste of mature paired helical filaments45
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations45
Elucidating the nociceptive role of CGRP in migraine headache45
Imaging progenitor cell differentiation during central nervous system remyelination using an MRI gene reporter45
Comparative transcriptomics reveal molecular convergence and divergence in parkinsonian disorders45
Satellite glial GLRX3 drives ageing-biased neuropathic pain via HMGB144
Characterizing proteomic and transcriptomic features of missense variants in amyotrophic lateral sclerosis genes44
Machine learning model based on plasma proteomics for the identification of Parkinson’s disease44
Emotional bias modification weakens game-related compulsivity and reshapes frontostriatal pathways44
The basal forebrain cholinergic system as target for cell replacement therapy in Parkinson’s disease44
Interpretable surface-based detection of focal cortical dysplasias: a Multi-centre Epilepsy Lesion Detection study43
PTPA variants and the risk for Parkinson’s disease in diverse ancestry populations43
Morc2a variants cause hydroxyl radical-mediated neuropathy and are rescued by restoring GHKL ATPase43
Targeting glutamatergic pathways: genetic insights into comorbid neurodevelopmental disorders43
C-terminal TMEM106B fragments in human brain correlate with disease-associated TMEM106B haplotypes43
Seeding, maturation and propagation of amyloid β-peptide aggregates in Alzheimer’s disease43
Ageing and remyelination failure in people with multiple sclerosis43
Amyloid-β-activated microglia can induce compound proteinopathies43
Multimodal multicentre investigation of diagnostic and prognostic markers in disorders of consciousness43
The functional role of the precuneus43
Is SORL1 a common genetic target across neurodegenerative diseases? A multi-ancestry biobank study42
Plasma biomarkers in chronic single moderate/severe traumatic brain injury42
Reply: Putative benefits of vitamin D supplements in multiple sclerosis out of reach due to sample size42
The ageing central nervous system in multiple sclerosis: the imaging perspective42
Motor network gamma oscillations in chronic home recordings predict dyskinesia in Parkinson’s disease42
Chasing MOG antibodies down … assays and lumbar punctures42
Right temporal degeneration and socioemotional semantics: semantic behavioural variant frontotemporal dementia42
Medial temporal lobe structural changes when Down syndrome and Alzheimer’s disease collide42
Reply: Methodological drawbacks in the alleged association between foetal sonographic anomalies and autism42
One transgene, two myopathies: an MTM1 ‘cross gene therapy’ for BIN1 deficiency?41
TGFβ4 alleviates the phenotype of Charcot–Marie–Tooth disease type 1A41
Reply: Neural substrates of the link between dual-task gait and dementia: an intermediary step in which direction?40
Nifuroxazide rescues the deleterious effects due to CHCHD10-associated MICOS defects in disease models40
Data-driven modelling of tau pathology reveals distinct progressive supranuclear palsy subtypes40
Myelination potential and injury susceptibility of grey versus white matter human oligodendrocytes40
The complexity of interpreting TSPO PET neuroimaging in first-episode psychosis40
Increase of HCN current in SOD1-associated amyotrophic lateral sclerosis40
Pure autonomic failure as an essential window into progression of synucleinopathies40
Genome-wide epistasis analysis reveals significant epistatic signals associated with Parkinson’s disease risk39
Expedited epilepsy surgery prior to drug resistance in children: a frontier worth crossing?39
Uncovering the distinct macro-scale anatomy of dysexecutive and behavioural degenerative diseases39
Reply: The challenge of assessing invasive biomarkers for epilepsy surgery and To plan efficacious epilepsy surgery39
Connectivity as a universal predictor of tau progression in atypical Alzheimer’s disease39
Noradrenergic alterations in Parkinson’s disease: a combined 11C-yohimbine PET/neuromelanin MRI study39
Neurophysiological consequences of synapse loss in progressive supranuclear palsy39
Great science does not communicate itself: but who should and how?39
Phenotypic individual clusters and metabolic tuber subtypes refine surgical strategy in tuberous sclerosis complex39
Reply: An epigenetic basis for genetic anticipation in facioscapulohumeral muscular dystrophy type 139
Brain essay competition winner on artificial general intelligence39
Brainstem cavernous malformations: observation, microsurgical resection or stereotactic radiosurgery39
Mitochondrial damage is associated with an early immune response in inclusion body myositis38
Multimodal layer modelling reveals in vivo pathology in amyotrophic lateral sclerosis38
Phenoconversion in pure autonomic failure: a multicentre prospective longitudinal cohort study38
Motivational and cognitive predictors of apathy after subthalamic nucleus stimulation in Parkinson’s disease38
Ligand-free mitochondria-localized mutant AR-induced cytotoxicity in spinal bulbar muscular atrophy38
Intra-putaminal muscarinic receptor agonist infusion induces a dystonic phenotype in non-human primates38
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability37
Sex-specific genetic drivers of memory, executive functioning and language in older adults37
Dynamic reorganization of task-related network interactions in post-stroke aphasia recovery37
Limitation of life sustaining therapy in disorders of consciousness: ethics and practice37
Direct electrical brain stimulation of human memory: lessons learnt and future perspectives37
Efficacy of MEDI0618, a pH-dependent monoclonal antibody targeting PAR2, in preclinical models of migraine37
Defining repetitive behaviours in frontotemporal dementia37
Clinicopathological correlates in the frontotemporal lobar degeneration–motor neuron disease spectrum37
Memory deficits of MDMA users are linked to cortical thinning related to 5-HT receptor densities37
Oxytocin receptor neurons in the paraventricular thalamus as a nexus for social behaviour and fear37
Dopamine and deep brain stimulation accelerate the neural dynamics of volitional action in Parkinson's disease37
Clinical features and prognostic factors in adults with viral meningitis37
Parkinson’s disease beyond the brain: erythrocyte α-synuclein transfer across the blood–brain barrier37
Mitochondrial dynamics and bioenergetics in Alzheimer’s induced pluripotent stem cell-derived neurons36
Cerebellar pathology contributes to neurodevelopmental deficits in spinal muscular atrophy36
The Wernicke conundrum revisited: evidence from connectome-based lesion-symptom mapping36
Role of pattern recognition receptors in chemotherapy-induced neuropathic pain36
Interaction of motor behaviour, cortical oscillations and deep brain stimulation in Parkinson’s disease36
Correction to: TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia36
Genome-wide contribution of common short-tandem repeats to Parkinson’s disease genetic risk36
Who am I?36
An alternative therapeutic approach to haematopoetic stem cell transplantation in early cerebral adrenoleukodystrophy36
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