Brain

Papers
(The TQCC of Brain is 22. 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 2022-01-01 to 2026-01-01.)
ArticleCitations
Correction to: Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders396
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 o391
Methodological drawbacks in the alleged association between foetal sonographic anomalies and autism241
Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study210
‘Seeding’ the idea of early diagnostics in synucleinopathies209
PET-MRI biomarkers reveal efficacy of a novel NLRP3 inhibitor in Parkinson’s disease models205
In vivo self-assembled siRNAs ameliorate neurological pathology in TDP-43-associated neurodegenerative disease199
We’re all in this together: a rejoinder to Masud Husain’s (rant) editorial192
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder191
‘Hippocampal innate inflammatory gliosis only’ in pharmacoresistant temporal lobe epilepsy190
Clinical dimensions along the non-fluent variant primary progressive aphasia spectrum189
Impaired ribosome-associated quality control of C9orf72 arginine-rich dipeptide-repeat proteins176
Deep brain stimulation: a tale of two targets … and closing the loop172
The axon initial segment as a source of neuropathic pain167
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features153
Dysregulated cortical excitability and tau phosphorylation in a β3 integrin mouse model of autism147
Lesion correlates of impaired acoustic-phonetic perception after unilateral left hemisphere stroke147
Dysfunction of the magnocellular subdivision of the visual thalamus in developmental dyslexia145
Mapping the peripheral immune landscape of Parkinson’s disease patients with single-cell sequencing145
Global network and local vulnerabilities underlie brain atrophy across Parkinson’s disease stages144
Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1129
Thalamostriatal disconnection underpins long-term seizure freedom in frontal lobe epilepsy surgery129
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy128
Dopamine and the dynamics of subthalamic and leg muscle activities in parkinsonian stepping127
Apathy, effort-based decisions and brain integrity in Alzheimer’s and Parkinson’s diseases123
Associations between accelerated forgetting, amyloid deposition and brain atrophy in older adults121
Optogenetic stimulation of the superior colliculus suppresses genetic absence seizures119
Genetically identical twin-pair difference models support the amyloid cascade hypothesis116
Trigeminal nerve microstructure is linked with neuroinflammation and brainstem activity in migraine115
Somatic variants of MAP3K3 are sufficient to cause cerebral and spinal cord cavernous malformations111
The inferior fronto-occipital fasciculus: bridging phylogeny, ontogeny and functional anatomy111
Source-sink connectivity: a novel interictal EEG marker for seizure localization110
ActivatingRAC1variants in the switch II region cause a developmental syndrome and alter neuronal morphology106
The use of optical coherence tomography in neurology: a review106
A data-driven study of Alzheimer's disease related amyloid and tau pathology progression103
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes102
Brain cholesterol and Alzheimer's disease: challenges and opportunities in probe and drug development101
The vascular contribution of apolipoprotein E to Alzheimer’s disease100
Peripherin is a biomarker of axonal damage in Guillain-Barré syndrome: a pathophysiological annotation98
Cerebral amyloid angiopathy interacts with neuritic amyloid plaques to promote tau and cognitive decline97
From bugs to brain: unravelling the GABA signalling networks in the brain–gut–microbiome axis95
Speech and language markers of neurodegeneration: a call for global equity94
Brain repair mechanisms after cell therapy for stroke94
Correction to: New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy94
Diffusion MRI tracks cortical microstructural changes during the early stages of Alzheimer’s disease94
Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients93
Demystifying interictal discharges and seizure initiation in focal epilepsy92
Reply: Unblinding in the lecanemab trial in Alzheimer’s disease91
The spectrum of disease and tau pathology of nodding syndrome in Uganda90
The three deceits of bureaucracy89
Extra-cranial cholinergic lesions in dementia with Lewy bodies87
Preclinical type 2 diabetes mellitus subtypes: new insights into diabetes, depression and dementia86
New mechanistic insights into hereditary spastic paraplegias86
Disruption of DNA methylation underpins the neuroinflammation induced by targeted CNS radiotherapy84
Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1–ADAM22/23 pathway84
Normalization of network activity in an epilepsy model with a constitutively active GABBR2 variant84
Treatment-resistant recurrent unipolar and bipolar depression: associative learning abnormalities83
Functional network reorganization precedes apathy in Parkinson’s disease: a neural marker of risk?82
How COVID-19 affects microvessels in the brain82
Routes of precursors’ migration in remyelination82
Multiple sclerosis in Denmark (1950–2023): mean age, sex distribution, incidence and prevalence82
Multiple lines of evidence for disruption of nuclear lamina and nucleoporins in FUS amyotrophic lateral sclerosis82
Evolutionary perspectives on mRNA signatures of neurodegeneration-related brain remodelling81
Integrative miRNA–mRNA profiling of human epidermis: unique signature of SCN9A painful neuropathy79
Natural experiment on neuroinflammatory disease incidence and infection links pre- and post-COVID-1979
That which we call cortisol awakening response, by any other word would smell as sweet78
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia77
Cytotoxic T cells and plasma cells dominate early in temporal lobe epilepsy with GAD antibodies76
Activation and sensitization of meningeal nociceptors by PACAP-38: implications for migraine headache76
Genome-wide association study of neuropathological features in Lewy body disease76
The interictal suppression hypothesis is the dominant differentiator of seizure onset zones in focal epilepsy75
Is glymphatic clearance the secret to restorative sleep?75
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 4072
Multimodal mapping of regional brain vulnerability to focal cortical dysplasia72
Extracellular vesicle biomarkers for complement dysfunction in schizophrenia71
A generalizable data-driven model of atrophy heterogeneity and progression in memory clinic settings71
The low dimensionality of post-stroke cognitive deficits: it’s the lesion anatomy!69
Hippocampal synaptic failure is an early event in experimental parkinsonism with subtle cognitive deficit69
Periventricular remyelination failure in multiple sclerosis: a substrate for neurodegeneration69
Clinical and MRI measures to identify non-acute MOG-antibody disease in adults68
Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing68
Defective lipid signalling caused by mutations inPIK3C2Bunderlies focal epilepsy68
Integrative genomics reveals pathogenic mediator of valproate-induced neurodevelopmental disability68
Structural covariance analysis for neurodegenerative and neuroinflammatory brain disorders67
Multicentre analysis of seizure outcome predicted by removal of high-frequency oscillations67
A sensory neuron-specific long non-coding RNA reduces neuropathic pain by rescuing KCNN1 expression66
GGC repeat expansions in NOTCH2NLC cause uN2CpolyG cerebral amyloid angiopathy66
Multifaceted nanoparticles: emerging mechanisms and therapies in neurodegenerative diseases65
Clinical features and prognostic factors in adults with brain abscess65
Long-term neuropsychological trajectories in children with epilepsy: does surgery halt decline?64
Novel insight into TRPV1-induced mitochondrial dysfunction in neuropathic pain64
Synaptic dysregulation in a mouse model of GRIN2D developmental and epileptic encephalopathy64
Cross-seeding by prion protein inactivates TDP-4364
Cortical cerebral microinfarcts spark cognitive decline63
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder63
From shadows to spotlight: the evolution of migraine stigma since the 17th century62
Midbrain cytotoxic T cells as a distinct neuropathological feature of progressive supranuclear palsy62
How modular are modules in visual cortex?62
Neural stem cell therapies for spinal cord injury repair: an update on recent preclinical and clinical advances62
Loss-of-function variants inMYCBP2cause neurobehavioural phenotypes and corpus callosum defects62
Correction to: Sex-specific modulation of amyloid-β on tau phosphorylation underlies faster tangle accumulation in females61
Correction to: Blood–brain barrier opening of the default mode network in Alzheimer's disease with magnetic resonance-guided focused ultrasound61
Neural basis of speech and grammar symptoms in non-fluent variant primary progressive aphasia spectrum60
Correction to: Remyelination of chronic demyelinated lesions with directly induced neural stem cells60
Decoding inflammatory pathways in spinal muscular atrophy: implications for next-generation therapies60
White matter connections within the central sulcus subserving the somato-cognitive action network60
Correction to: Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders59
Endosomal 2Cl−/H+ exchangers regulate neuronal excitability by tuning Kv7/KCNQ channel density59
Widespread white matter oedema in subacute COVID-19 patients with neurological symptoms59
A journey towards the pot of gold58
Untangling white matter fibre changes in Alzheimer's disease and small vessel disease58
Sorting out Parkinson’s disease: one cell at a time58
UNC13B and focal epilepsy57
Reply: The correlation of behavioural deficits post-stroke: a trivial issue?57
Estimating the time course of biomarker changes in Alzheimer’s disease57
Neuromelanin as a nidus for neurodegeneration57
In silico versus functional characterization of genetic variants: lessons from muscle channelopathies57
Reply: Lecanemab: turning point, or status quo? An ethics perspective57
Reply: Do we need new MRI criteria for the diagnosis of radiologically isolated syndrome?57
Occludin modulates HIV and ischaemic stroke response via mitochondrial antiviral signalling pathway56
Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome56
Multicompartmental models and diffusion abnormalities in paediatric mild traumatic brain injury56
Human lesions and animal studies link the claustrum to perception, salience, sleep and pain55
Sleep and seizure risk in epilepsy: bed and wake times are more important than sleep duration55
Startle responses in Duchenne muscular dystrophy: a novel biomarker of brain dystrophin deficiency55
Imaging chronic active lesions in multiple sclerosis: a consensus statement55
Cdc42GAP deficiency contributes to the Alzheimer’s disease phenotype55
Basal forebrain integrity, cholinergic innervation and cognition in idiopathic Parkinson’s disease55
The human subthalamic nucleus transiently inhibits active attentional processes55
The lysosomal β-glucocerebrosidase strikes mitochondria: implications for Parkinson’s therapeutics54
Age-related and amyloid-beta-independent tau deposition and its downstream effects54
Anatomo-functional basis of emotional and motor resonance elicited by facial expressions54
Effort avoidance as a core mechanism of apathy in frontotemporal dementia54
Recovery from aphasia in the first year after stroke54
Reduced striatal dopamine transmission as a transdiagnostic substrate of psychomotor retardation53
Role of CD5 signalling for pro-inflammatory Th17 response in multiple sclerosis53
Distinct cerebellar networks underpin clinical improvement in adolescent Tourette disorder53
Amyloid-β predominant Alzheimer’s disease neuropathologic change53
JC virus spread is potentiated by glial replication and demyelination-linked glial proliferation53
A novel eye-movement impairment in multiple sclerosis indicating widespread cortical damage53
Wheelchair use in genetically confirmed FSHD1 from a large cohort study in Chinese population53
Impaired value-based decision-making in Parkinson’s disease apathy52
Failure of C9orf72 sense repeat-targeting antisense oligonucleotides: lessons learned and the path forward52
How patients with multiple sclerosis acquire disability52
Early onset hereditary neuronopathies: an update on non-5qmotor neuron diseases52
Nigrostriatal tau pathology in parkinsonism and Parkinson’s disease52
Delineation of functionally essential protein regions for 242 neurodevelopmental genes50
Genetic variability in sporadic amyotrophic lateral sclerosis50
Motor neuron TDP-43 proteinopathy in progressive supranuclear palsy and corticobasal degeneration50
Interferon-γ controls aquaporin 4-specific Th17 and B cells in neuromyelitis optica spectrum disorder50
Large-scale rare variant burden testing in Parkinson's disease50
Plasma VEGFA and PGF impact longitudinal tau and cognition in preclinical Alzheimer’s disease50
Misdirected yet intact TREX1 exonuclease activity causes human cerebral and systemic small vessel disease49
Bridging the gaps between JCV infection models and human disease49
Common and distinct fronto-striatal volumetric changes in heroin and cocaine use disorders49
Correction to: Bidirectional gut-to-brain and brain-to-gut propagation of synucleinopathy in non-human primates49
Is it time to rename hereditary cases of cerebral palsy?49
Shedding light on a novel circuit within primary motor cortex as a target for neuromodulation49
Cul-4 inhibition rescues spastin levels and reduces defects in hereditary spastic paraplegia models48
Synaptic and cognitive impairment associated with L444P heterozygous glucocerebrosidase mutation48
Surgical white matter disruption leads to downstream atrophy in the non-resected human brain48
The visual cortex in the blind but not the auditory cortex in the deaf becomes multiple-demand regions48
Thalamic stereo-EEG in epilepsy surgery: where do we stand?47
Biomarker evidence of neurodegeneration in mid-life former rugby players47
USP25 in genetic generalized epilepsy: a gene under scrutiny47
Brain accumulation of lactosylceramide characterizes GALC deficiency in a zebrafish model of Krabbe disease47
CGRP signalling in migraine: time to look downstream?47
Amyloid-β-activated microglia can induce compound proteinopathies47
A foothold in detection of limbic-predominant age-related TDP-43 encephalopathy47
Anterior optic pathway pathology in CNS demyelinating diseases47
Morc2a variants cause hydroxyl radical-mediated neuropathy and are rescued by restoring GHKL ATPase47
Smarter adaptive platform clinical trials in neurology47
Interleukin-17B is a new biomarker of human muscle regeneration in dystrophinopathies47
Characterizing proteomic and transcriptomic features of missense variants in amyotrophic lateral sclerosis genes47
Four dimensions of naturalistic language production in aphasia after stroke46
Localizing epileptogenic tissues in epilepsy: are we losing (the) focus?46
Motor network gamma oscillations in chronic home recordings predict dyskinesia in Parkinson’s disease46
Ageing and remyelination failure in people with multiple sclerosis46
Tiam1 is part of a novel mechanism for morphine tolerance and hyperalgesia46
The ageing central nervous system in multiple sclerosis: the imaging perspective46
Seeding, maturation and propagation of amyloid β-peptide aggregates in Alzheimer’s disease46
Broad activation of the Parkin pathway induces synaptic mitochondrial deficits in early tauopathy46
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations45
Cervical lymph nodes and ovarian teratomas as germinal centres in NMDA receptor-antibody encephalitis45
Alzheimer proteopathic tau seeds are biochemically a forme fruste of mature paired helical filaments45
C-terminal TMEM106B fragments in human brain correlate with disease-associated TMEM106B haplotypes45
Understanding brain calcification via N-terminal acetylation at the Golgi apparatus45
The basal forebrain cholinergic system as target for cell replacement therapy in Parkinson’s disease45
PTPA variants and the risk for Parkinson’s disease in diverse ancestry populations45
Interpretable surface-based detection of focal cortical dysplasias: a Multi-centre Epilepsy Lesion Detection study45
Right temporal degeneration and socioemotional semantics: semantic behavioural variant frontotemporal dementia45
Emotional bias modification weakens game-related compulsivity and reshapes frontostriatal pathways45
Reply: The challenge of assessing invasive biomarkers for epilepsy surgery and To plan efficacious epilepsy surgery44
Medial temporal lobe structural changes when Down syndrome and Alzheimer’s disease collide44
Of networked lesions and lesioned networks44
The functional role of the precuneus44
Plasma biomarkers in chronic single moderate/severe traumatic brain injury44
Motor compensation in Parkinson’s disease: an empirical challenge with clinical implications44
Poor statistical reporting in a spinal cord injury clinical trial43
One transgene, two myopathies: an MTM1 ‘cross gene therapy’ for BIN1 deficiency?43
Ockham’s razor, not a barber’s weapon but a writer’s tool43
Reply: Putative benefits of vitamin D supplements in multiple sclerosis out of reach due to sample size43
Multimodal layer modelling reveals in vivo pathology in amyotrophic lateral sclerosis43
Chasing MOG antibodies down … assays and lumbar punctures43
Reply: Methodological drawbacks in the alleged association between foetal sonographic anomalies and autism43
TGFβ4 alleviates the phenotype of Charcot–Marie–Tooth disease type 1A43
Myelination potential and injury susceptibility of grey versus white matter human oligodendrocytes42
Uncovering the distinct macro-scale anatomy of dysexecutive and behavioural degenerative diseases42
Efficacy of MEDI0618, a pH-dependent monoclonal antibody targeting PAR2, in preclinical models of migraine41
Brainstem cavernous malformations: observation, microsurgical resection or stereotactic radiosurgery41
Great science does not communicate itself: but who should and how?41
Reply: Neural substrates of the link between dual-task gait and dementia: an intermediary step in which direction?41
Intra-putaminal muscarinic receptor agonist infusion induces a dystonic phenotype in non-human primates41
Defining repetitive behaviours in frontotemporal dementia41
An extended amygdala circuit at the core of long-term post-sepsis psychiatric disorders41
Genome-wide epistasis analysis reveals significant epistatic signals associated with Parkinson’s disease risk41
Reply: An epigenetic basis for genetic anticipation in facioscapulohumeral muscular dystrophy type 141
Ligand-free mitochondria-localized mutant AR-induced cytotoxicity in spinal bulbar muscular atrophy41
Phenotypic individual clusters and metabolic tuber subtypes refine surgical strategy in tuberous sclerosis complex40
Interaction of motor behaviour, cortical oscillations and deep brain stimulation in Parkinson’s disease40
The importance of offering early genetic testing in everyone with amyotrophic lateral sclerosis40
Clinicopathological correlates in the frontotemporal lobar degeneration–motor neuron disease spectrum40
Cerebellar pathology contributes to neurodevelopmental deficits in spinal muscular atrophy40
Memory deficits of MDMA users are linked to cortical thinning related to 5-HT receptor densities40
Connectivity as a universal predictor of tau progression in atypical Alzheimer’s disease40
Spreading depolarizations in ischaemia after subarachnoid haemorrhage, a diagnostic phase III study40
Phenoconversion in pure autonomic failure: a multicentre prospective longitudinal cohort study39
Nifuroxazide rescues the deleterious effects due to CHCHD10-associated MICOS defects in disease models39
Neurovascular injury with complement activation and inflammation in COVID-1939
Limitation of life sustaining therapy in disorders of consciousness: ethics and practice39
Direct electrical brain stimulation of human memory: lessons learnt and future perspectives39
Mitochondrial damage is associated with an early immune response in inclusion body myositis39
Motivational and cognitive predictors of apathy after subthalamic nucleus stimulation in Parkinson’s disease39
Dynamic reorganization of task-related network interactions in post-stroke aphasia recovery39
Mitochondrial dynamics and bioenergetics in Alzheimer’s induced pluripotent stem cell-derived neurons39
Neurophysiological consequences of synapse loss in progressive supranuclear palsy39
Heterozygous PRKN mutations are common but do not increase the risk of Parkinson’s disease38
The Wernicke conundrum revisited: evidence from connectome-based lesion-symptom mapping38
Genome-wide contribution of common short-tandem repeats to Parkinson’s disease genetic risk38
Expedited epilepsy surgery prior to drug resistance in children: a frontier worth crossing?38
Dopamine and deep brain stimulation accelerate the neural dynamics of volitional action in Parkinson's disease38
Noradrenergic alterations in Parkinson’s disease: a combined 11C-yohimbine PET/neuromelanin MRI study38
Increase of HCN current in SOD1-associated amyotrophic lateral sclerosis38
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability38
Seronegative autoimmune encephalitis: clinical characteristics and factors associated with outcomes38
Different factors underlie mild and severe forms of spinal muscular atrophy37
Role of pattern recognition receptors in chemotherapy-induced neuropathic pain37
Reply: Wheelchair use in genetically confirmed FSHD1 from a large cohort study in Chinese population37
Clinical features and prognostic factors in adults with viral meningitis37
Correction to: TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia37
0.42636895179749