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 2021-08-01 to 2025-08-01.)
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 o360
Clinical dimensions along the non-fluent variant primary progressive aphasia spectrum319
Impaired ribosome-associated quality control of C9orf72 arginine-rich dipeptide-repeat proteins316
Thalamostriatal disconnection underpins long-term seizure freedom in frontal lobe epilepsy surgery179
Correction to: Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders178
Methodological drawbacks in the alleged association between foetal sonographic anomalies and autism173
Proust and his neurologists: the challenge of functional disorders170
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy169
Genetically identical twin-pair difference models support the amyloid cascade hypothesis168
Source-sink connectivity: a novel interictal EEG marker for seizure localization163
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features158
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes153
3T MRI of rapid brain activity changes driven by subcallosal cingulate deep brain stimulation152
Optogenetic stimulation of the superior colliculus suppresses genetic absence seizures152
Brain repair mechanisms after cell therapy for stroke148
The axon initial segment as a source of neuropathic pain146
Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study142
Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1135
‘Seeding’ the idea of early diagnostics in synucleinopathies133
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder132
Deep brain stimulation: a tale of two targets … and closing the loop131
Peripherin is a biomarker of axonal damage in Guillain-Barré syndrome: a pathophysiological annotation128
Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation124
We’re all in this together: a rejoinder to Masud Husain’s (rant) editorial124
Distinct subcellular autophagy impairments in induced neurons from patients with Huntington's disease123
Somatic variants of MAP3K3 are sufficient to cause cerebral and spinal cord cavernous malformations123
Lesion correlates of impaired acoustic-phonetic perception after unilateral left hemisphere stroke119
ActivatingRAC1variants in the switch II region cause a developmental syndrome and alter neuronal morphology118
The vascular contribution of apolipoprotein E to Alzheimer’s disease116
Brain cholesterol and Alzheimer's disease: challenges and opportunities in probe and drug development111
Associations between accelerated forgetting, amyloid deposition and brain atrophy in older adults110
From bugs to brain: unravelling the GABA signalling networks in the brain–gut–microbiome axis106
‘Hippocampal innate inflammatory gliosis only’ in pharmacoresistant temporal lobe epilepsy106
The use of optical coherence tomography in neurology: a review103
Cerebral amyloid angiopathy interacts with neuritic amyloid plaques to promote tau and cognitive decline101
Diffusion MRI tracks cortical microstructural changes during the early stages of Alzheimer’s disease100
Speech and language markers of neurodegeneration: a call for global equity95
The inferior fronto-occipital fasciculus: bridging phylogeny, ontogeny and functional anatomy90
Dysfunction of the magnocellular subdivision of the visual thalamus in developmental dyslexia89
Imaging protein aggregates in the serum and cerebrospinal fluid in Parkinson’s disease87
Trigeminal nerve microstructure is linked with neuroinflammation and brainstem activity in migraine86
18F-MK-6240 tau-PET in genetic frontotemporal dementia86
Dysregulated cortical excitability and tau phosphorylation in a β3 integrin mouse model of autism86
Mapping the peripheral immune landscape of Parkinson’s disease patients with single-cell sequencing86
Correction to: New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy85
Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups85
Hitching a ride on exosomes: a new approach for the delivery of siRNA-mediated therapies85
A data-driven study of Alzheimer's disease related amyloid and tau pathology progression85
Multiple sclerosis in Denmark (1950–2023): mean age, sex distribution, incidence and prevalence84
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia81
Reply: Unblinding in the lecanemab trial in Alzheimer’s disease81
Clinically relevant mitochondrial-targeted therapy improves chronic outcomes after traumatic brain injury81
Demystifying interictal discharges and seizure initiation in focal epilepsy81
Multimodal mapping of regional brain vulnerability to focal cortical dysplasia79
The three deceits of bureaucracy79
Intravenous delivery of adeno-associated viral gene therapy in feline GM1 gangliosidosis79
Integrative genomics reveals pathogenic mediator of valproate-induced neurodevelopmental disability79
Extra-cranial cholinergic lesions in dementia with Lewy bodies78
Cytotoxic T cells and plasma cells dominate early in temporal lobe epilepsy with GAD antibodies77
Evolutionary perspectives on mRNA signatures of neurodegeneration-related brain remodelling77
New mechanistic insights into hereditary spastic paraplegias77
GGC repeat expansions in NOTCH2NLC cause uN2CpolyG cerebral amyloid angiopathy76
Functional network reorganization precedes apathy in Parkinson’s disease: a neural marker of risk?76
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 4075
The low dimensionality of post-stroke cognitive deficits: it’s the lesion anatomy!75
Multiple lines of evidence for disruption of nuclear lamina and nucleoporins in FUS amyotrophic lateral sclerosis74
Preclinical type 2 diabetes mellitus subtypes: new insights into diabetes, depression and dementia74
Multicentre analysis of seizure outcome predicted by removal of high-frequency oscillations73
How COVID-19 affects microvessels in the brain73
Defective lipid signalling caused by mutations inPIK3C2Bunderlies focal epilepsy72
Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing72
Hippocampal synaptic failure is an early event in experimental parkinsonism with subtle cognitive deficit72
Extracellular vesicle biomarkers for complement dysfunction in schizophrenia72
Multifaceted nanoparticles: emerging mechanisms and therapies in neurodegenerative diseases72
Cross-seeding by prion protein inactivates TDP-4371
Clinical and MRI measures to identify non-acute MOG-antibody disease in adults70
A sensory neuron-specific long non-coding RNA reduces neuropathic pain by rescuing KCNN1 expression70
The spectrum of disease and tau pathology of nodding syndrome in Uganda69
Long-term neuropsychological trajectories in children with epilepsy: does surgery halt decline?68
Loss-of-function variants inMYCBP2cause neurobehavioural phenotypes and corpus callosum defects68
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder66
Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1–ADAM22/23 pathway66
Synaptic dysregulation in a mouse model of GRIN2D developmental and epileptic encephalopathy65
Midbrain cytotoxic T cells as a distinct neuropathological feature of progressive supranuclear palsy65
Novel insight into TRPV1-induced mitochondrial dysfunction in neuropathic pain65
Genome-wide association study of neuropathological features in Lewy body disease64
A generalizable data-driven model of atrophy heterogeneity and progression in memory clinic settings63
Disruption of DNA methylation underpins the neuroinflammation induced by targeted CNS radiotherapy63
BMP receptor blockade overcomes extrinsic inhibition of remyelination and restores neurovascular homeostasis63
The interictal suppression hypothesis is the dominant differentiator of seizure onset zones in focal epilepsy62
Structural covariance analysis for neurodegenerative and neuroinflammatory brain disorders62
The neuroethics of disorders of consciousness: a brief history of evolving ideas62
Integrative miRNA–mRNA profiling of human epidermis: unique signature of SCN9A painful neuropathy62
Periventricular remyelination failure in multiple sclerosis: a substrate for neurodegeneration60
Neural stem cell therapies for spinal cord injury repair: an update on recent preclinical and clinical advances60
Correction to: Blood–brain barrier opening of the default mode network in Alzheimer's disease with magnetic resonance-guided focused ultrasound59
Clinical features and prognostic factors in adults with brain abscess59
How modular are modules in visual cortex?58
Correction to: Sex-specific modulation of amyloid-β on tau phosphorylation underlies faster tangle accumulation in females58
Amyloid-β predominant Alzheimer’s disease neuropathologic change58
From shadows to spotlight: the evolution of migraine stigma since the 17th century58
JC virus spread is potentiated by glial replication and demyelination-linked glial proliferation57
Impaired value-based decision-making in Parkinson’s disease apathy57
Early onset hereditary neuronopathies: an update on non-5qmotor neuron diseases57
Nigrostriatal tau pathology in parkinsonism and Parkinson’s disease56
Failure of C9orf72 sense repeat-targeting antisense oligonucleotides: lessons learned and the path forward56
The human subthalamic nucleus transiently inhibits active attentional processes56
Plasma VEGFA and PGF impact longitudinal tau and cognition in preclinical Alzheimer’s disease56
Human lesions and animal studies link the claustrum to perception, salience, sleep and pain56
Anatomo-functional basis of emotional and motor resonance elicited by facial expressions55
Corrigendum to: Imaging protein aggregates in the serum and cerebrospinal fluid in Parkinson’s disease54
Sorting out Parkinson’s disease: one cell at a time54
Correction to: Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders54
UNC13B and focal epilepsy54
Startle responses in Duchenne muscular dystrophy: a novel biomarker of brain dystrophin deficiency54
A novel eye-movement impairment in multiple sclerosis indicating widespread cortical damage54
A journey towards the pot of gold53
Untangling white matter fibre changes in Alzheimer's disease and small vessel disease53
Reply: The correlation of behavioural deficits post-stroke: a trivial issue?53
In silico versus functional characterization of genetic variants: lessons from muscle channelopathies53
Neuromelanin as a nidus for neurodegeneration52
A passive and objective measure of recognition memory in Alzheimer’s disease using Fastball memory assessment52
Reply: Do we need new MRI criteria for the diagnosis of radiologically isolated syndrome?52
Wheelchair use in genetically confirmed FSHD1 from a large cohort study in Chinese population52
Delineation of functionally essential protein regions for 242 neurodevelopmental genes52
Reply: Lecanemab: turning point, or status quo? An ethics perspective52
Random forest: random results or meaningful insights for patients with facioscapulohumeral muscular dystrophy?52
Neural basis of speech and grammar symptoms in non-fluent variant primary progressive aphasia spectrum51
Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome51
Effort avoidance as a core mechanism of apathy in frontotemporal dementia51
Motor neuron TDP-43 proteinopathy in progressive supranuclear palsy and corticobasal degeneration51
Sleep and seizure risk in epilepsy: bed and wake times are more important than sleep duration51
Endosomal 2Cl−/H+ exchangers regulate neuronal excitability by tuning Kv7/KCNQ channel density51
Occludin modulates HIV and ischaemic stroke response via mitochondrial antiviral signalling pathway50
Multicompartmental models and diffusion abnormalities in paediatric mild traumatic brain injury50
The lysosomal β-glucocerebrosidase strikes mitochondria: implications for Parkinson’s therapeutics50
Interferon-γ controls aquaporin 4-specific Th17 and B cells in neuromyelitis optica spectrum disorder50
Misdirected yet intact TREX1 exonuclease activity causes human cerebral and systemic small vessel disease49
Imaging chronic active lesions in multiple sclerosis: a consensus statement49
Genetic variability in sporadic amyotrophic lateral sclerosis49
Widespread white matter oedema in subacute COVID-19 patients with neurological symptoms49
Age-related and amyloid-beta-independent tau deposition and its downstream effects49
How patients with multiple sclerosis acquire disability49
Large-scale rare variant burden testing in Parkinson's disease49
White matter connections within the central sulcus subserving the somato-cognitive action network48
Recovery from aphasia in the first year after stroke48
Basal forebrain integrity, cholinergic innervation and cognition in idiopathic Parkinson’s disease48
Characterizing proteomic and transcriptomic features of missense variants in amyotrophic lateral sclerosis genes48
Cdc42GAP deficiency contributes to the Alzheimer’s disease phenotype48
Common and distinct fronto-striatal volumetric changes in heroin and cocaine use disorders48
CGRP signalling in migraine: time to look downstream?48
Motor compensation in Parkinson’s disease: an empirical challenge with clinical implications47
Development of a novel tau propagation mouse model endogenously expressing 3 and 4 repeat tau isoforms47
Is it time to rename hereditary cases of cerebral palsy?47
Morc2a variants cause hydroxyl radical-mediated neuropathy and are rescued by restoring GHKL ATPase47
Cul-4 inhibition rescues spastin levels and reduces defects in hereditary spastic paraplegia models47
Bridging the gaps between JCV infection models and human disease46
Correction to: Bidirectional gut-to-brain and brain-to-gut propagation of synucleinopathy in non-human primates46
Biomarker evidence of neurodegeneration in mid-life former rugby players45
Motor network gamma oscillations in chronic home recordings predict dyskinesia in Parkinson’s disease45
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations45
Anterior optic pathway pathology in CNS demyelinating diseases45
Emotional bias modification weakens game-related compulsivity and reshapes frontostriatal pathways45
The ageing central nervous system in multiple sclerosis: the imaging perspective44
Four dimensions of naturalistic language production in aphasia after stroke44
The visual cortex in the blind but not the auditory cortex in the deaf becomes multiple-demand regions44
Thalamic stereo-EEG in epilepsy surgery: where do we stand?44
Tiam1 is part of a novel mechanism for morphine tolerance and hyperalgesia44
Stimulation of frontal pathways disrupts hand muscle control during object manipulation44
Shedding light on a novel circuit within primary motor cortex as a target for neuromodulation44
Localizing epileptogenic tissues in epilepsy: are we losing (the) focus?43
PTPA variants and the risk for Parkinson’s disease in diverse ancestry populations43
Imbalanced basal ganglia connectivity is associated with motor deficits and apathy in Huntington’s disease43
In vitro ictogenesis is stochastic at the single neuron level43
Synaptic and cognitive impairment associated with L444P heterozygous glucocerebrosidase mutation43
Broad activation of the Parkin pathway induces synaptic mitochondrial deficits in early tauopathy43
Alzheimer proteopathic tau seeds are biochemically a forme fruste of mature paired helical filaments43
Decomposing MRI phenotypic heterogeneity in epilepsy: a step towards personalized classification42
Cervical lymph nodes and ovarian teratomas as germinal centres in NMDA receptor-antibody encephalitis42
Amyloid-β-activated microglia can induce compound proteinopathies42
Smarter adaptive platform clinical trials in neurology42
Interleukin-17B is a new biomarker of human muscle regeneration in dystrophinopathies41
The functional role of the precuneus41
Diffusely abnormal white matter converts to T2 lesion volume in the absence of MRI-detectable acute inflammation41
Brain accumulation of lactosylceramide characterizes GALC deficiency in a zebrafish model of Krabbe disease41
Seeding, maturation and propagation of amyloid β-peptide aggregates in Alzheimer’s disease41
C-terminal TMEM106B fragments in human brain correlate with disease-associated TMEM106B haplotypes41
Understanding brain calcification via N-terminal acetylation at the Golgi apparatus41
The basal forebrain cholinergic system as target for cell replacement therapy in Parkinson’s disease41
Resting-state EEG reveals four subphenotypes of amyotrophic lateral sclerosis41
Interpretable surface-based detection of focal cortical dysplasias: a Multi-centre Epilepsy Lesion Detection study41
Reply: An epigenetic basis for genetic anticipation in facioscapulohumeral muscular dystrophy type 140
One transgene, two myopathies: an MTM1 ‘cross gene therapy’ for BIN1 deficiency?40
Chasing MOG antibodies down … assays and lumbar punctures40
Ockham’s razor, not a barber’s weapon but a writer’s tool40
Corrigendum to: Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG340
The BS variant of C4 protects against age-related loss of white matter microstructural integrity40
Reply: Methodological drawbacks in the alleged association between foetal sonographic anomalies and autism40
Reply: The challenge of assessing invasive biomarkers for epilepsy surgery and To plan efficacious epilepsy surgery40
Right temporal degeneration and socioemotional semantics: semantic behavioural variant frontotemporal dementia40
TGFβ4 alleviates the phenotype of Charcot–Marie–Tooth disease type 1A40
Poor statistical reporting in a spinal cord injury clinical trial40
Plasma biomarkers in chronic single moderate/severe traumatic brain injury39
Motivational and cognitive predictors of apathy after subthalamic nucleus stimulation in Parkinson’s disease39
Of networked lesions and lesioned networks39
Neurophysiological consequences of synapse loss in progressive supranuclear palsy39
Great science does not communicate itself: but who should and how?39
Reply: Putative benefits of vitamin D supplements in multiple sclerosis out of reach due to sample size39
Role of pattern recognition receptors in chemotherapy-induced neuropathic pain39
Direct electrical brain stimulation of human memory: lessons learnt and future perspectives38
Neurovascular injury with complement activation and inflammation in COVID-1938
Uncovering the distinct macro-scale anatomy of dysexecutive and behavioural degenerative diseases38
Dopamine and deep brain stimulation accelerate the neural dynamics of volitional action in Parkinson's disease38
Intra-putaminal muscarinic receptor agonist infusion induces a dystonic phenotype in non-human primate38
Myelination potential and injury susceptibility of grey versus white matter human oligodendrocytes38
An extended amygdala circuit at the core of long-term post-sepsis psychiatric disorders38
Functional connectivity drives stroke recovery: shifting the paradigm from correlation to causation38
Spreading depolarizations in ischaemia after subarachnoid haemorrhage, a diagnostic phase III study38
Limitation of life sustaining therapy in disorders of consciousness: ethics and practice38
Increase of HCN current in SOD1-associated amyotrophic lateral sclerosis37
Genome-wide epistasis analysis reveals significant epistatic signals associated with Parkinson’s disease risk37
Noradrenergic alterations in Parkinson’s disease: a combined 11C-yohimbine PET/neuromelanin MRI study37
Dynamic reorganization of task-related network interactions in post-stroke aphasia recovery37
Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort37
Efficacy of MEDI0618, a pH-dependent monoclonal antibody targeting PAR2, in preclinical models of migraine37
Mitochondrial dynamics and bioenergetics in Alzheimer’s induced pluripotent stem cell-derived neurons37
Ligand-free mitochondria-localized mutant AR-induced cytotoxicity in spinal bulbar muscular atrophy37
Medial temporal lobe structural changes when Down syndrome and Alzheimer’s disease collide37
The Wernicke conundrum revisited: evidence from connectome-based lesion-symptom mapping37
Clinical features and prognostic factors in adults with viral meningitis37
Clinicopathological correlates in the frontotemporal lobar degeneration–motor neuron disease spectrum37
Interaction of motor behaviour, cortical oscillations and deep brain stimulation in Parkinson’s disease37
Nifuroxazide rescues the deleterious effects due to CHCHD10-associated MICOS defects in disease models37
Reply: Neural substrates of the link between dual-task gait and dementia: an intermediary step in which direction?37
Brainstem cavernous malformations: observation, microsurgical resection or stereotactic radiosurgery37
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability36
Defining repetitive behaviours in frontotemporal dementia36
Heterozygous PRKN mutations are common but do not increase the risk of Parkinson’s disease36
Seronegative autoimmune encephalitis: clinical characteristics and factors associated with outcomes36
Predictors of functional outcomes in patients with facioscapulohumeral muscular dystrophy36
Phenoconversion in pure autonomic failure: a multicentre prospective longitudinal cohort study36
The importance of offering early genetic testing in everyone with amyotrophic lateral sclerosis36
Genome-wide contribution of common short-tandem repeats to Parkinson’s disease genetic risk35
Bobby Fischer and the delusions of a king of logic35
Expedited epilepsy surgery prior to drug resistance in children: a frontier worth crossing?35
Multimodal layer modelling reveals in vivo pathology in amyotrophic lateral sclerosis35
Can immunological imprinting drive neurological dysfunction in long COVID?35
Mitochondrial damage is associated with an early immune response in inclusion body myositis35
Correction to: TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia35
Reply: Poor statistical reporting in a spinal cord injury clinical trial35
0.071438074111938