Brain

Papers
(The TQCC of Brain is 21. 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 2021-09-01 to 2025-09-01.)
ArticleCitations
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 o373
Clinical dimensions along the non-fluent variant primary progressive aphasia spectrum338
Correction to: Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders329
Methodological drawbacks in the alleged association between foetal sonographic anomalies and autism183
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy181
Genetically identical twin-pair difference models support the amyloid cascade hypothesis180
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features177
Optogenetic stimulation of the superior colliculus suppresses genetic absence seizures177
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes177
The axon initial segment as a source of neuropathic pain176
Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study170
Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1164
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder163
Deep brain stimulation: a tale of two targets … and closing the loop159
Trigeminal nerve microstructure is linked with neuroinflammation and brainstem activity in migraine153
Dysregulated cortical excitability and tau phosphorylation in a β3 integrin mouse model of autism151
Mapping the peripheral immune landscape of Parkinson’s disease patients with single-cell sequencing148
Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups147
We’re all in this together: a rejoinder to Masud Husain’s (rant) editorial138
Somatic variants of MAP3K3 are sufficient to cause cerebral and spinal cord cavernous malformations136
Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation136
Lesion correlates of impaired acoustic-phonetic perception after unilateral left hemisphere stroke134
Cerebral amyloid angiopathy interacts with neuritic amyloid plaques to promote tau and cognitive decline130
The inferior fronto-occipital fasciculus: bridging phylogeny, ontogeny and functional anatomy129
Thalamostriatal disconnection underpins long-term seizure freedom in frontal lobe epilepsy surgery128
3T MRI of rapid brain activity changes driven by subcallosal cingulate deep brain stimulation122
Speech and language markers of neurodegeneration: a call for global equity120
Impaired ribosome-associated quality control of C9orf72 arginine-rich dipeptide-repeat proteins120
Brain repair mechanisms after cell therapy for stroke118
‘Seeding’ the idea of early diagnostics in synucleinopathies113
A data-driven study of Alzheimer's disease related amyloid and tau pathology progression112
18F-MK-6240 tau-PET in genetic frontotemporal dementia104
Distinct subcellular autophagy impairments in induced neurons from patients with Huntington's disease104
From bugs to brain: unravelling the GABA signalling networks in the brain–gut–microbiome axis102
The use of optical coherence tomography in neurology: a review97
‘Hippocampal innate inflammatory gliosis only’ in pharmacoresistant temporal lobe epilepsy95
Associations between accelerated forgetting, amyloid deposition and brain atrophy in older adults94
Peripherin is a biomarker of axonal damage in Guillain-Barré syndrome: a pathophysiological annotation93
Source-sink connectivity: a novel interictal EEG marker for seizure localization92
The vascular contribution of apolipoprotein E to Alzheimer’s disease92
Diffusion MRI tracks cortical microstructural changes during the early stages of Alzheimer’s disease90
ActivatingRAC1variants in the switch II region cause a developmental syndrome and alter neuronal morphology89
Dysfunction of the magnocellular subdivision of the visual thalamus in developmental dyslexia88
Correction to: New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy87
Brain cholesterol and Alzheimer's disease: challenges and opportunities in probe and drug development87
Demystifying interictal discharges and seizure initiation in focal epilepsy86
Reply: Unblinding in the lecanemab trial in Alzheimer’s disease86
Hitching a ride on exosomes: a new approach for the delivery of siRNA-mediated therapies86
Multiple lines of evidence for disruption of nuclear lamina and nucleoporins in FUS amyotrophic lateral sclerosis85
Activation and sensitization of meningeal nociceptors by PACAP-38: implications for migraine headache85
Defective lipid signalling caused by mutations inPIK3C2Bunderlies focal epilepsy84
Structural covariance analysis for neurodegenerative and neuroinflammatory brain disorders84
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia83
Integrative miRNA–mRNA profiling of human epidermis: unique signature of SCN9A painful neuropathy81
Clinical features and prognostic factors in adults with brain abscess81
Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients81
Hippocampal synaptic failure is an early event in experimental parkinsonism with subtle cognitive deficit79
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 4079
Multicentre analysis of seizure outcome predicted by removal of high-frequency oscillations79
Loss-of-function variants inMYCBP2cause neurobehavioural phenotypes and corpus callosum defects78
Clinical and MRI measures to identify non-acute MOG-antibody disease in adults78
Long-term neuropsychological trajectories in children with epilepsy: does surgery halt decline?78
Extra-cranial cholinergic lesions in dementia with Lewy bodies77
The three deceits of bureaucracy77
Evolutionary perspectives on mRNA signatures of neurodegeneration-related brain remodelling76
Cytotoxic T cells and plasma cells dominate early in temporal lobe epilepsy with GAD antibodies76
GGC repeat expansions in NOTCH2NLC cause uN2CpolyG cerebral amyloid angiopathy75
New mechanistic insights into hereditary spastic paraplegias75
Functional network reorganization precedes apathy in Parkinson’s disease: a neural marker of risk?74
Preclinical type 2 diabetes mellitus subtypes: new insights into diabetes, depression and dementia73
The interictal suppression hypothesis is the dominant differentiator of seizure onset zones in focal epilepsy73
The low dimensionality of post-stroke cognitive deficits: it’s the lesion anatomy!73
The spectrum of disease and tau pathology of nodding syndrome in Uganda71
Periventricular remyelination failure in multiple sclerosis: a substrate for neurodegeneration71
Midbrain cytotoxic T cells as a distinct neuropathological feature of progressive supranuclear palsy71
Genome-wide association study of neuropathological features in Lewy body disease71
Disruption of DNA methylation underpins the neuroinflammation induced by targeted CNS radiotherapy70
Multiple sclerosis in Denmark (1950–2023): mean age, sex distribution, incidence and prevalence69
Treatment resistant recurrent unipolar and bipolar depression: associative learning abnormalities69
How COVID-19 affects microvessels in the brain68
Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing68
Cross-seeding by prion protein inactivates TDP-4366
Synaptic dysregulation in a mouse model of GRIN2D developmental and epileptic encephalopathy65
Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1–ADAM22/23 pathway65
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder65
Multifaceted nanoparticles: emerging mechanisms and therapies in neurodegenerative diseases65
Multimodal mapping of regional brain vulnerability to focal cortical dysplasia64
A generalizable data-driven model of atrophy heterogeneity and progression in memory clinic settings64
Extracellular vesicle biomarkers for complement dysfunction in schizophrenia64
Novel insight into TRPV1-induced mitochondrial dysfunction in neuropathic pain63
Integrative genomics reveals pathogenic mediator of valproate-induced neurodevelopmental disability63
Clinically relevant mitochondrial-targeted therapy improves chronic outcomes after traumatic brain injury62
Neural stem cell therapies for spinal cord injury repair: an update on recent preclinical and clinical advances61
How modular are modules in visual cortex?61
A sensory neuron-specific long non-coding RNA reduces neuropathic pain by rescuing KCNN1 expression61
Correction to: Blood–brain barrier opening of the default mode network in Alzheimer's disease with magnetic resonance-guided focused ultrasound61
From shadows to spotlight: the evolution of migraine stigma since the 17th century60
Correction to: Sex-specific modulation of amyloid-β on tau phosphorylation underlies faster tangle accumulation in females60
Correction to: Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders58
Untangling white matter fibre changes in Alzheimer's disease and small vessel disease58
A novel eye-movement impairment in multiple sclerosis indicating widespread cortical damage58
Sorting out Parkinson’s disease: one cell at a time58
Corrigendum to: Imaging protein aggregates in the serum and cerebrospinal fluid in Parkinson’s disease58
JC virus spread is potentiated by glial replication and demyelination-linked glial proliferation58
A journey towards the pot of gold57
Reply: The correlation of behavioural deficits post-stroke: a trivial issue?57
Delineation of functionally essential protein regions for 242 neurodevelopmental genes56
Random forest: random results or meaningful insights for patients with facioscapulohumeral muscular dystrophy?56
Reply: Do we need new MRI criteria for the diagnosis of radiologically isolated syndrome?56
Reply: Lecanemab: turning point, or status quo? An ethics perspective56
Neuromelanin as a nidus for neurodegeneration56
Wheelchair use in genetically confirmed FSHD1 from a large cohort study in Chinese population55
Endosomal 2Cl−/H+ exchangers regulate neuronal excitability by tuning Kv7/KCNQ channel density55
Sleep and seizure risk in epilepsy: bed and wake times are more important than sleep duration55
Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome55
Multicompartmental models and diffusion abnormalities in paediatric mild traumatic brain injury54
White matter connections within the central sulcus subserving the somato-cognitive action network54
Amyloid-β predominant Alzheimer’s disease neuropathologic change54
Misdirected yet intact TREX1 exonuclease activity causes human cerebral and systemic small vessel disease54
Occludin modulates HIV and ischaemic stroke response via mitochondrial antiviral signalling pathway54
Early onset hereditary neuronopathies: an update on non-5qmotor neuron diseases54
Genetic variability in sporadic amyotrophic lateral sclerosis54
Anatomo-functional basis of emotional and motor resonance elicited by facial expressions53
Motor neuron TDP-43 proteinopathy in progressive supranuclear palsy and corticobasal degeneration53
Age-related and amyloid-beta-independent tau deposition and its downstream effects53
In silico versus functional characterization of genetic variants: lessons from muscle channelopathies53
Role of CD5 signalling for pro-inflammatory Th17 response in multiple sclerosis52
Large-scale rare variant burden testing in Parkinson's disease52
Plasma VEGFA and PGF impact longitudinal tau and cognition in preclinical Alzheimer’s disease52
Interferon-γ controls aquaporin 4-specific Th17 and B cells in neuromyelitis optica spectrum disorder51
Nigrostriatal tau pathology in parkinsonism and Parkinson’s disease51
Human lesions and animal studies link the claustrum to perception, salience, sleep and pain51
Basal forebrain integrity, cholinergic innervation and cognition in idiopathic Parkinson’s disease50
Startle responses in Duchenne muscular dystrophy: a novel biomarker of brain dystrophin deficiency50
Widespread white matter oedema in subacute COVID-19 patients with neurological symptoms50
A passive and objective measure of recognition memory in Alzheimer’s disease using Fastball memory assessment50
UNC13B and focal epilepsy50
Failure of C9orf72 sense repeat-targeting antisense oligonucleotides: lessons learned and the path forward49
The lysosomal β-glucocerebrosidase strikes mitochondria: implications for Parkinson’s therapeutics49
Common and distinct fronto-striatal volumetric changes in heroin and cocaine use disorders49
Recovery from aphasia in the first year after stroke49
The human subthalamic nucleus transiently inhibits active attentional processes49
Cdc42GAP deficiency contributes to the Alzheimer’s disease phenotype49
Imaging chronic active lesions in multiple sclerosis: a consensus statement48
Impaired value-based decision-making in Parkinson’s disease apathy48
Neural basis of speech and grammar symptoms in non-fluent variant primary progressive aphasia spectrum48
How patients with multiple sclerosis acquire disability48
Effort avoidance as a core mechanism of apathy in frontotemporal dementia47
Is it time to rename hereditary cases of cerebral palsy?47
Characterizing proteomic and transcriptomic features of missense variants in amyotrophic lateral sclerosis genes47
Motor compensation in Parkinson’s disease: an empirical challenge with clinical implications47
CGRP signalling in migraine: time to look downstream?47
Correction to: Bidirectional gut-to-brain and brain-to-gut propagation of synucleinopathy in non-human primates46
Cul-4 inhibition rescues spastin levels and reduces defects in hereditary spastic paraplegia models46
Development of a novel tau propagation mouse model endogenously expressing 3 and 4 repeat tau isoforms46
Emotional bias modification weakens game-related compulsivity and reshapes frontostriatal pathways45
Bridging the gaps between JCV infection models and human disease45
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations45
Seeding, maturation and propagation of amyloid β-peptide aggregates in Alzheimer’s disease45
Stimulation of frontal pathways disrupts hand muscle control during object manipulation45
C-terminal TMEM106B fragments in human brain correlate with disease-associated TMEM106B haplotypes45
The visual cortex in the blind but not the auditory cortex in the deaf becomes multiple-demand regions44
Amyloid-β-activated microglia can induce compound proteinopathies44
Tiam1 is part of a novel mechanism for morphine tolerance and hyperalgesia44
Decomposing MRI phenotypic heterogeneity in epilepsy: a step towards personalized classification44
Shedding light on a novel circuit within primary motor cortex as a target for neuromodulation44
Four dimensions of naturalistic language production in aphasia after stroke44
Biomarker evidence of neurodegeneration in mid-life former rugby players44
Localizing epileptogenic tissues in epilepsy: are we losing (the) focus?43
Morc2a variants cause hydroxyl radical-mediated neuropathy and are rescued by restoring GHKL ATPase43
Smarter adaptive platform clinical trials in neurology43
The basal forebrain cholinergic system as target for cell replacement therapy in Parkinson’s disease43
Diffusely abnormal white matter converts to T2 lesion volume in the absence of MRI-detectable acute inflammation43
PTPA variants and the risk for Parkinson’s disease in diverse ancestry populations43
Alzheimer proteopathic tau seeds are biochemically a forme fruste of mature paired helical filaments43
The functional role of the precuneus42
Broad activation of the Parkin pathway induces synaptic mitochondrial deficits in early tauopathy42
Synaptic and cognitive impairment associated with L444P heterozygous glucocerebrosidase mutation42
Motor network gamma oscillations in chronic home recordings predict dyskinesia in Parkinson’s disease42
Brain accumulation of lactosylceramide characterizes GALC deficiency in a zebrafish model of Krabbe disease42
Understanding brain calcification via N-terminal acetylation at the Golgi apparatus42
Interpretable surface-based detection of focal cortical dysplasias: a Multi-centre Epilepsy Lesion Detection study42
Thalamic stereo-EEG in epilepsy surgery: where do we stand?42
Cervical lymph nodes and ovarian teratomas as germinal centres in NMDA receptor-antibody encephalitis42
The ageing central nervous system in multiple sclerosis: the imaging perspective42
Right temporal degeneration and socioemotional semantics: semantic behavioural variant frontotemporal dementia41
Imbalanced basal ganglia connectivity is associated with motor deficits and apathy in Huntington’s disease41
Reply: The challenge of assessing invasive biomarkers for epilepsy surgery and To plan efficacious epilepsy surgery41
Resting-state EEG reveals four subphenotypes of amyotrophic lateral sclerosis41
Interleukin-17B is a new biomarker of human muscle regeneration in dystrophinopathies41
One transgene, two myopathies: an MTM1 ‘cross gene therapy’ for BIN1 deficiency?41
TGFβ4 alleviates the phenotype of Charcot–Marie–Tooth disease type 1A41
Anterior optic pathway pathology in CNS demyelinating diseases41
Corrigendum to: Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG341
Reply: An epigenetic basis for genetic anticipation in facioscapulohumeral muscular dystrophy type 141
Reply: Methodological drawbacks in the alleged association between foetal sonographic anomalies and autism40
Of networked lesions and lesioned networks40
Reply: Neural substrates of the link between dual-task gait and dementia: an intermediary step in which direction?40
Ockham’s razor, not a barber’s weapon but a writer’s tool40
Poor statistical reporting in a spinal cord injury clinical trial40
Plasma biomarkers in chronic single moderate/severe traumatic brain injury40
Chasing MOG antibodies down … assays and lumbar punctures40
Reply: Putative benefits of vitamin D supplements in multiple sclerosis out of reach due to sample size40
Direct electrical brain stimulation of human memory: lessons learnt and future perspectives40
Clinicopathological correlates in the frontotemporal lobar degeneration–motor neuron disease spectrum39
Myelination potential and injury susceptibility of grey versus white matter human oligodendrocytes39
Genome-wide epistasis analysis reveals significant epistatic signals associated with Parkinson’s disease risk39
Medial temporal lobe structural changes when Down syndrome and Alzheimer’s disease collide39
Interaction of motor behaviour, cortical oscillations and deep brain stimulation in Parkinson’s disease39
Uncovering the distinct macro-scale anatomy of dysexecutive and behavioural degenerative diseases39
Brainstem cavernous malformations: observation, microsurgical resection or stereotactic radiosurgery39
Efficacy of MEDI0618, a pH-dependent monoclonal antibody targeting PAR2, in preclinical models of migraine39
Noradrenergic alterations in Parkinson’s disease: a combined 11C-yohimbine PET/neuromelanin MRI study38
Motivational and cognitive predictors of apathy after subthalamic nucleus stimulation in Parkinson’s disease38
An extended amygdala circuit at the core of long-term post-sepsis psychiatric disorders38
Genome-wide contribution of common short-tandem repeats to Parkinson’s disease genetic risk38
Mitochondrial dynamics and bioenergetics in Alzheimer’s induced pluripotent stem cell-derived neurons38
Heterozygous PRKN mutations are common but do not increase the risk of Parkinson’s disease38
Great science does not communicate itself: but who should and how?38
Spreading depolarizations in ischaemia after subarachnoid haemorrhage, a diagnostic phase III study38
Phenoconversion in pure autonomic failure: a multicentre prospective longitudinal cohort study38
Nifuroxazide rescues the deleterious effects due to CHCHD10-associated MICOS defects in disease models38
The Wernicke conundrum revisited: evidence from connectome-based lesion-symptom mapping38
The importance of offering early genetic testing in everyone with amyotrophic lateral sclerosis38
Predictors of functional outcomes in patients with facioscapulohumeral muscular dystrophy38
Mitochondrial damage is associated with an early immune response in inclusion body myositis37
Defining repetitive behaviours in frontotemporal dementia37
Dopamine and deep brain stimulation accelerate the neural dynamics of volitional action in Parkinson's disease37
Intra-putaminal muscarinic receptor agonist infusion induces a dystonic phenotype in non-human primate37
Limitation of life sustaining therapy in disorders of consciousness: ethics and practice37
Ligand-free mitochondria-localized mutant AR-induced cytotoxicity in spinal bulbar muscular atrophy37
Multimodal layer modelling reveals in vivo pathology in amyotrophic lateral sclerosis37
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability37
Neurophysiological consequences of synapse loss in progressive supranuclear palsy37
Role of pattern recognition receptors in chemotherapy-induced neuropathic pain37
Correction to: TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia36
Dynamic reorganization of task-related network interactions in post-stroke aphasia recovery36
Seronegative autoimmune encephalitis: clinical characteristics and factors associated with outcomes36
Functional connectivity drives stroke recovery: shifting the paradigm from correlation to causation36
Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort36
Clinical features and prognostic factors in adults with viral meningitis36
Increase of HCN current in SOD1-associated amyotrophic lateral sclerosis36
Neurovascular injury with complement activation and inflammation in COVID-1936
Expedited epilepsy surgery prior to drug resistance in children: a frontier worth crossing?36
The risk of secondary progressive multiple sclerosis is geographically determined but modifiable35
Who am I?35
ILAE position on early surgery for drug sensitive lesional focal epilepsy35
The emerging field of non-invasive brain stimulation in Alzheimer’s disease35
CSF1R inhibition depletes brain macrophages and reduces brain virus burden in SIV-infected macaques35
Prognostic value of single-subject grey matter networks in early multiple sclerosis35
0.47271513938904