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 2021-11-01 to 2025-11-01.)
ArticleCitations
Correction to: Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders399
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 o374
Methodological drawbacks in the alleged association between foetal sonographic anomalies and autism362
‘Seeding’ the idea of early diagnostics in synucleinopathies215
Trigeminal nerve microstructure is linked with neuroinflammation and brainstem activity in migraine196
PET-MRI biomarkers reveal efficacy of a novel NLRP3 inhibitor in Parkinson’s disease models194
Apathy, effort-based decisions and brain integrity in Alzheimer’s and Parkinson’s diseases192
Distinct subcellular autophagy impairments in induced neurons from patients with Huntington's disease187
Clinical dimensions along the non-fluent variant primary progressive aphasia spectrum183
Somatic variants of MAP3K3 are sufficient to cause cerebral and spinal cord cavernous malformations183
The vascular contribution of apolipoprotein E to Alzheimer’s disease182
Dysfunction of the magnocellular subdivision of the visual thalamus in developmental dyslexia177
Associations between accelerated forgetting, amyloid deposition and brain atrophy in older adults171
‘Hippocampal innate inflammatory gliosis only’ in pharmacoresistant temporal lobe epilepsy162
Brain repair mechanisms after cell therapy for stroke160
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes159
Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1146
Diffusion MRI tracks cortical microstructural changes during the early stages of Alzheimer’s disease144
Speech and language markers of neurodegeneration: a call for global equity140
Genetically identical twin-pair difference models support the amyloid cascade hypothesis140
Source-sink connectivity: a novel interictal EEG marker for seizure localization139
In vivo self-assembled siRNAs ameliorate neurological pathology in TDP-43-associated neurodegenerative disease136
The inferior fronto-occipital fasciculus: bridging phylogeny, ontogeny and functional anatomy136
Peripherin is a biomarker of axonal damage in Guillain-Barré syndrome: a pathophysiological annotation131
We’re all in this together: a rejoinder to Masud Husain’s (rant) editorial131
Impaired ribosome-associated quality control of C9orf72 arginine-rich dipeptide-repeat proteins130
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder122
Deep brain stimulation: a tale of two targets … and closing the loop120
The axon initial segment as a source of neuropathic pain118
Optogenetic stimulation of the superior colliculus suppresses genetic absence seizures114
Dysregulated cortical excitability and tau phosphorylation in a β3 integrin mouse model of autism111
Thalamostriatal disconnection underpins long-term seizure freedom in frontal lobe epilepsy surgery108
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy106
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features105
Lesion correlates of impaired acoustic-phonetic perception after unilateral left hemisphere stroke102
ActivatingRAC1variants in the switch II region cause a developmental syndrome and alter neuronal morphology102
From bugs to brain: unravelling the GABA signalling networks in the brain–gut–microbiome axis100
Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study100
Mapping the peripheral immune landscape of Parkinson’s disease patients with single-cell sequencing99
Brain cholesterol and Alzheimer's disease: challenges and opportunities in probe and drug development97
A data-driven study of Alzheimer's disease related amyloid and tau pathology progression94
Cerebral amyloid angiopathy interacts with neuritic amyloid plaques to promote tau and cognitive decline94
3T MRI of rapid brain activity changes driven by subcallosal cingulate deep brain stimulation94
The use of optical coherence tomography in neurology: a review93
Correction to: New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy93
Cytotoxic T cells and plasma cells dominate early in temporal lobe epilepsy with GAD antibodies92
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder90
Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients89
Activation and sensitization of meningeal nociceptors by PACAP-38: implications for migraine headache89
Demystifying interictal discharges and seizure initiation in focal epilepsy88
Hitching a ride on exosomes: a new approach for the delivery of siRNA-mediated therapies88
Reply: Unblinding in the lecanemab trial in Alzheimer’s disease87
That which we call cortisol awakening response, by any other word would smell as sweet87
The three deceits of bureaucracy86
Extra-cranial cholinergic lesions in dementia with Lewy bodies85
New mechanistic insights into hereditary spastic paraplegias84
Preclinical type 2 diabetes mellitus subtypes: new insights into diabetes, depression and dementia83
Disruption of DNA methylation underpins the neuroinflammation induced by targeted CNS radiotherapy81
The spectrum of disease and tau pathology of nodding syndrome in Uganda80
Multiple sclerosis in Denmark (1950–2023): mean age, sex distribution, incidence and prevalence80
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 4080
Defective lipid signalling caused by mutations inPIK3C2Bunderlies focal epilepsy80
Evolutionary perspectives on mRNA signatures of neurodegeneration-related brain remodelling79
Multiple lines of evidence for disruption of nuclear lamina and nucleoporins in FUS amyotrophic lateral sclerosis79
Normalization of network activity in an epilepsy model with a constitutively active GABBR2 variant79
Midbrain cytotoxic T cells as a distinct neuropathological feature of progressive supranuclear palsy77
Synaptic dysregulation in a mouse model of GRIN2D developmental and epileptic encephalopathy77
Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1–ADAM22/23 pathway76
Treatment-resistant recurrent unipolar and bipolar depression: associative learning abnormalities75
Cortical cerebral microinfarcts spark cognitive decline75
Functional network reorganization precedes apathy in Parkinson’s disease: a neural marker of risk?74
Clinically relevant mitochondrial-targeted therapy improves chronic outcomes after traumatic brain injury74
How COVID-19 affects microvessels in the brain74
Multifaceted nanoparticles: emerging mechanisms and therapies in neurodegenerative diseases74
Integrative genomics reveals pathogenic mediator of valproate-induced neurodevelopmental disability73
Novel insight into TRPV1-induced mitochondrial dysfunction in neuropathic pain73
Loss-of-function variants inMYCBP2cause neurobehavioural phenotypes and corpus callosum defects73
Clinical and MRI measures to identify non-acute MOG-antibody disease in adults73
Integrative miRNA–mRNA profiling of human epidermis: unique signature of SCN9A painful neuropathy73
Cross-seeding by prion protein inactivates TDP-4372
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia71
Clinical features and prognostic factors in adults with brain abscess70
Extracellular vesicle biomarkers for complement dysfunction in schizophrenia70
Periventricular remyelination failure in multiple sclerosis: a substrate for neurodegeneration68
Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing67
Multicentre analysis of seizure outcome predicted by removal of high-frequency oscillations67
The low dimensionality of post-stroke cognitive deficits: it’s the lesion anatomy!66
Neural stem cell therapies for spinal cord injury repair: an update on recent preclinical and clinical advances66
A sensory neuron-specific long non-coding RNA reduces neuropathic pain by rescuing KCNN1 expression65
Long-term neuropsychological trajectories in children with epilepsy: does surgery halt decline?65
Multimodal mapping of regional brain vulnerability to focal cortical dysplasia65
GGC repeat expansions in NOTCH2NLC cause uN2CpolyG cerebral amyloid angiopathy65
Hippocampal synaptic failure is an early event in experimental parkinsonism with subtle cognitive deficit64
The interictal suppression hypothesis is the dominant differentiator of seizure onset zones in focal epilepsy64
A generalizable data-driven model of atrophy heterogeneity and progression in memory clinic settings63
Genome-wide association study of neuropathological features in Lewy body disease63
Structural covariance analysis for neurodegenerative and neuroinflammatory brain disorders62
From shadows to spotlight: the evolution of migraine stigma since the 17th century61
How modular are modules in visual cortex?61
Correction to: Sex-specific modulation of amyloid-β on tau phosphorylation underlies faster tangle accumulation in females61
Misdirected yet intact TREX1 exonuclease activity causes human cerebral and systemic small vessel disease60
Endosomal 2Cl−/H+ exchangers regulate neuronal excitability by tuning Kv7/KCNQ channel density60
Occludin modulates HIV and ischaemic stroke response via mitochondrial antiviral signalling pathway60
Correction to: Remyelination of chronic demyelinated lesions with directly induced neural stem cells60
Correction to: Blood–brain barrier opening of the default mode network in Alzheimer's disease with magnetic resonance-guided focused ultrasound60
Distinct cerebellar networks underpin clinical improvement in adolescent Tourette disorder60
Role of CD5 signalling for pro-inflammatory Th17 response in multiple sclerosis59
Amyloid-β predominant Alzheimer’s disease neuropathologic change58
White matter connections within the central sulcus subserving the somato-cognitive action network58
Neural basis of speech and grammar symptoms in non-fluent variant primary progressive aphasia spectrum58
Decoding inflammatory pathways in spinal muscular atrophy: implications for next-generation therapies57
Age-related and amyloid-beta-independent tau deposition and its downstream effects57
Motor neuron TDP-43 proteinopathy in progressive supranuclear palsy and corticobasal degeneration57
A novel eye-movement impairment in multiple sclerosis indicating widespread cortical damage57
Genetic variability in sporadic amyotrophic lateral sclerosis57
Imaging chronic active lesions in multiple sclerosis: a consensus statement56
JC virus spread is potentiated by glial replication and demyelination-linked glial proliferation56
Sorting out Parkinson’s disease: one cell at a time56
Impaired value-based decision-making in Parkinson’s disease apathy56
Correction to: Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders56
Reduced striatal dopamine transmission as a transdiagnostic substrate of psychomotor retardation56
Untangling white matter fibre changes in Alzheimer's disease and small vessel disease56
Reply: Do we need new MRI criteria for the diagnosis of radiologically isolated syndrome?55
Neuromelanin as a nidus for neurodegeneration55
A journey towards the pot of gold55
Wheelchair use in genetically confirmed FSHD1 from a large cohort study in Chinese population54
Plasma VEGFA and PGF impact longitudinal tau and cognition in preclinical Alzheimer’s disease54
Reply: The correlation of behavioural deficits post-stroke: a trivial issue?54
UNC13B and focal epilepsy54
Common and distinct fronto-striatal volumetric changes in heroin and cocaine use disorders54
Delineation of functionally essential protein regions for 242 neurodevelopmental genes54
In silico versus functional characterization of genetic variants: lessons from muscle channelopathies54
Reply: Lecanemab: turning point, or status quo? An ethics perspective54
Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome52
Widespread white matter oedema in subacute COVID-19 patients with neurological symptoms52
Multicompartmental models and diffusion abnormalities in paediatric mild traumatic brain injury52
Large-scale rare variant burden testing in Parkinson's disease52
The human subthalamic nucleus transiently inhibits active attentional processes52
Early onset hereditary neuronopathies: an update on non-5qmotor neuron diseases52
Sleep and seizure risk in epilepsy: bed and wake times are more important than sleep duration52
Basal forebrain integrity, cholinergic innervation and cognition in idiopathic Parkinson’s disease51
Anatomo-functional basis of emotional and motor resonance elicited by facial expressions51
How patients with multiple sclerosis acquire disability51
Failure of C9orf72 sense repeat-targeting antisense oligonucleotides: lessons learned and the path forward51
Cdc42GAP deficiency contributes to the Alzheimer’s disease phenotype50
Effort avoidance as a core mechanism of apathy in frontotemporal dementia50
Startle responses in Duchenne muscular dystrophy: a novel biomarker of brain dystrophin deficiency50
The lysosomal β-glucocerebrosidase strikes mitochondria: implications for Parkinson’s therapeutics50
Nigrostriatal tau pathology in parkinsonism and Parkinson’s disease49
Characterizing proteomic and transcriptomic features of missense variants in amyotrophic lateral sclerosis genes49
Interferon-γ controls aquaporin 4-specific Th17 and B cells in neuromyelitis optica spectrum disorder49
Motor compensation in Parkinson’s disease: an empirical challenge with clinical implications49
Bridging the gaps between JCV infection models and human disease49
Recovery from aphasia in the first year after stroke49
Human lesions and animal studies link the claustrum to perception, salience, sleep and pain49
Is it time to rename hereditary cases of cerebral palsy?49
PTPA variants and the risk for Parkinson’s disease in diverse ancestry populations48
Tiam1 is part of a novel mechanism for morphine tolerance and hyperalgesia48
Surgical white matter disruption leads to downstream atrophy in the non-resected human brain48
Shedding light on a novel circuit within primary motor cortex as a target for neuromodulation48
The visual cortex in the blind but not the auditory cortex in the deaf becomes multiple-demand regions48
Correction to: Bidirectional gut-to-brain and brain-to-gut propagation of synucleinopathy in non-human primates48
CGRP signalling in migraine: time to look downstream?47
Interleukin-17B is a new biomarker of human muscle regeneration in dystrophinopathies47
Thalamic stereo-EEG in epilepsy surgery: where do we stand?47
Understanding brain calcification via N-terminal acetylation at the Golgi apparatus47
USP25 in genetic generalized epilepsy: a gene under scrutiny46
Smarter adaptive platform clinical trials in neurology46
Morc2a variants cause hydroxyl radical-mediated neuropathy and are rescued by restoring GHKL ATPase46
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations46
Biomarker evidence of neurodegeneration in mid-life former rugby players46
Motor network gamma oscillations in chronic home recordings predict dyskinesia in Parkinson’s disease46
Ageing and remyelination failure in people with multiple sclerosis46
Seeding, maturation and propagation of amyloid β-peptide aggregates in Alzheimer’s disease46
Brain accumulation of lactosylceramide characterizes GALC deficiency in a zebrafish model of Krabbe disease45
Synaptic and cognitive impairment associated with L444P heterozygous glucocerebrosidase mutation45
Emotional bias modification weakens game-related compulsivity and reshapes frontostriatal pathways45
The basal forebrain cholinergic system as target for cell replacement therapy in Parkinson’s disease45
Amyloid-β-activated microglia can induce compound proteinopathies45
Cul-4 inhibition rescues spastin levels and reduces defects in hereditary spastic paraplegia models45
Broad activation of the Parkin pathway induces synaptic mitochondrial deficits in early tauopathy45
Alzheimer proteopathic tau seeds are biochemically a forme fruste of mature paired helical filaments45
Localizing epileptogenic tissues in epilepsy: are we losing (the) focus?45
Diffusely abnormal white matter converts to T2 lesion volume in the absence of MRI-detectable acute inflammation45
Right temporal degeneration and socioemotional semantics: semantic behavioural variant frontotemporal dementia44
Interpretable surface-based detection of focal cortical dysplasias: a Multi-centre Epilepsy Lesion Detection study44
The ageing central nervous system in multiple sclerosis: the imaging perspective44
Resting-state EEG reveals four subphenotypes of amyotrophic lateral sclerosis44
The functional role of the precuneus44
Cervical lymph nodes and ovarian teratomas as germinal centres in NMDA receptor-antibody encephalitis44
Decomposing MRI phenotypic heterogeneity in epilepsy: a step towards personalized classification44
Four dimensions of naturalistic language production in aphasia after stroke44
C-terminal TMEM106B fragments in human brain correlate with disease-associated TMEM106B haplotypes44
Anterior optic pathway pathology in CNS demyelinating diseases44
Of networked lesions and lesioned networks43
Reply: The challenge of assessing invasive biomarkers for epilepsy surgery and To plan efficacious epilepsy surgery43
Medial temporal lobe structural changes when Down syndrome and Alzheimer’s disease collide43
Plasma biomarkers in chronic single moderate/severe traumatic brain injury43
Multimodal layer modelling reveals in vivo pathology in amyotrophic lateral sclerosis42
TGFβ4 alleviates the phenotype of Charcot–Marie–Tooth disease type 1A42
Poor statistical reporting in a spinal cord injury clinical trial42
Direct electrical brain stimulation of human memory: lessons learnt and future perspectives42
Reply: Putative benefits of vitamin D supplements in multiple sclerosis out of reach due to sample size42
Reply: Methodological drawbacks in the alleged association between foetal sonographic anomalies and autism42
Intra-putaminal muscarinic receptor agonist infusion induces a dystonic phenotype in non-human primate42
One transgene, two myopathies: an MTM1 ‘cross gene therapy’ for BIN1 deficiency?42
Ockham’s razor, not a barber’s weapon but a writer’s tool42
Chasing MOG antibodies down … assays and lumbar punctures42
Phenoconversion in pure autonomic failure: a multicentre prospective longitudinal cohort study41
Myelination potential and injury susceptibility of grey versus white matter human oligodendrocytes41
Noradrenergic alterations in Parkinson’s disease: a combined 11C-yohimbine PET/neuromelanin MRI study41
Ligand-free mitochondria-localized mutant AR-induced cytotoxicity in spinal bulbar muscular atrophy41
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
Interaction of motor behaviour, cortical oscillations and deep brain stimulation in Parkinson’s disease41
Defining repetitive behaviours in frontotemporal dementia41
Reply: Neural substrates of the link between dual-task gait and dementia: an intermediary step in which direction?41
Neurophysiological consequences of synapse loss in progressive supranuclear palsy41
The Wernicke conundrum revisited: evidence from connectome-based lesion-symptom mapping40
Clinicopathological correlates in the frontotemporal lobar degeneration–motor neuron disease spectrum40
Dopamine and deep brain stimulation accelerate the neural dynamics of volitional action in Parkinson's disease40
Role of pattern recognition receptors in chemotherapy-induced neuropathic pain40
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability40
Spreading depolarizations in ischaemia after subarachnoid haemorrhage, a diagnostic phase III study40
Mitochondrial damage is associated with an early immune response in inclusion body myositis40
Expedited epilepsy surgery prior to drug resistance in children: a frontier worth crossing?40
Nifuroxazide rescues the deleterious effects due to CHCHD10-associated MICOS defects in disease models39
Reply: An epigenetic basis for genetic anticipation in facioscapulohumeral muscular dystrophy type 139
Increase of HCN current in SOD1-associated amyotrophic lateral sclerosis39
Great science does not communicate itself: but who should and how?39
Clinical features and prognostic factors in adults with viral meningitis39
Efficacy of MEDI0618, a pH-dependent monoclonal antibody targeting PAR2, in preclinical models of migraine39
Seronegative autoimmune encephalitis: clinical characteristics and factors associated with outcomes39
Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort38
Brainstem cavernous malformations: observation, microsurgical resection or stereotactic radiosurgery38
Mitochondrial dynamics and bioenergetics in Alzheimer’s induced pluripotent stem cell-derived neurons38
Memory deficits of MDMA users are linked to cortical thinning related to 5-HT receptor densities38
The importance of offering early genetic testing in everyone with amyotrophic lateral sclerosis38
Limitation of life sustaining therapy in disorders of consciousness: ethics and practice38
Motivational and cognitive predictors of apathy after subthalamic nucleus stimulation in Parkinson’s disease38
Dynamic reorganization of task-related network interactions in post-stroke aphasia recovery38
Heterozygous PRKN mutations are common but do not increase the risk of Parkinson’s disease38
Connectivity as a universal predictor of tau progression in atypical Alzheimer’s disease38
Genome-wide contribution of common short-tandem repeats to Parkinson’s disease genetic risk38
Neurovascular injury with complement activation and inflammation in COVID-1937
Cerebellar pathology contributes to neurodevelopmental deficits in spinal muscular atrophy37
Functional connectivity drives stroke recovery: shifting the paradigm from correlation to causation37
Correction to: TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia37
Uncovering the distinct macro-scale anatomy of dysexecutive and behavioural degenerative diseases37
Functional implication for myelin regeneration in recovery from ischaemic stroke36
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