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 2021-05-01 to 2025-05-01.)
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 o329
The axon initial segment as a source of neuropathic pain318
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features280
Distinct subcellular autophagy impairments in induced neurons from patients with Huntington's disease265
Clinical dimensions along the non-fluent variant primary progressive aphasia spectrum169
Impaired ribosome-associated quality control of C9orf72 arginine-rich dipeptide-repeat proteins160
Thalamostriatal disconnection underpins long-term seizure freedom in frontal lobe epilepsy surgery159
Correction to: Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders156
Methodological drawbacks in the alleged association between foetal sonographic anomalies and autism156
The efficacy and deficiency of contemporary treatment for spinal cord arteriovenous shunts150
Proust and his neurologists: the challenge of functional disorders144
‘Seeding’ the idea of early diagnostics in synucleinopathies142
Genetically identical twin-pair difference models support the amyloid cascade hypothesis140
Diffusion MRI tracks cortical microstructural changes during the early stages of Alzheimer’s disease140
Somatic variants of MAP3K3 are sufficient to cause cerebral and spinal cord cavernous malformations135
From bugs to brain: unravelling the GABA signalling networks in the brain–gut–microbiome axis132
3T MRI of rapid brain activity changes driven by subcallosal cingulate deep brain stimulation132
Dysregulated cortical excitability and tau phosphorylation in a β3 integrin mouse model of autism131
The inferior fronto-occipital fasciculus: bridging phylogeny, ontogeny and functional anatomy125
Optogenetic stimulation of the superior colliculus suppresses genetic absence seizures122
Lesion correlates of impaired acoustic-phonetic perception after unilateral left hemisphere stroke121
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder120
Peripherin is a biomarker of axonal damage in Guillain-Barré syndrome: a pathophysiological annotation119
Speech and language markers of neurodegeneration: a call for global equity118
Dysfunction of the magnocellular subdivision of the visual thalamus in developmental dyslexia118
Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study117
Imaging protein aggregates in the serum and cerebrospinal fluid in Parkinson’s disease115
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes111
Cerebral amyloid angiopathy interacts with neuritic amyloid plaques to promote tau and cognitive decline110
Genetic evaluation of dementia with Lewy bodies implicates distinct disease subgroups109
Deep brain stimulation: a tale of two targets … and closing the loop108
18F-MK-6240 tau-PET in genetic frontotemporal dementia108
Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1108
Brain repair mechanisms after cell therapy for stroke104
Biallelic FRA10AC1 variants cause a neurodevelopmental disorder with growth retardation101
Associations between accelerated forgetting, amyloid deposition and brain atrophy in older adults101
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy100
Source-sink connectivity: a novel interictal EEG marker for seizure localization100
Brain cholesterol and Alzheimer's disease: challenges and opportunities in probe and drug development98
A data-driven study of Alzheimer's disease related amyloid and tau pathology progression98
Trigeminal nerve microstructure is linked with neuroinflammation and brainstem activity in migraine97
ActivatingRAC1variants in the switch II region cause a developmental syndrome and alter neuronal morphology96
The use of optical coherence tomography in neurology: a review95
‘Hippocampal innate inflammatory gliosis only’ in pharmacoresistant temporal lobe epilepsy89
Correction to: New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy86
The vascular contribution of apolipoprotein E to Alzheimer’s disease86
Multicentre analysis of seizure outcome predicted by removal of high-frequency oscillations85
Genome-wide association study of neuropathological features in Lewy body disease84
Midbrain cytotoxic T cells as a distinct neuropathological feature of progressive supranuclear palsy83
The neuroethics of disorders of consciousness: a brief history of evolving ideas83
Hitching a ride on exosomes: a new approach for the delivery of siRNA-mediated therapies82
Multiple sclerosis in Denmark (1950–2023): mean age, sex distribution, incidence and prevalence80
A sensory neuron-specific long non-coding RNA reduces neuropathic pain by rescuing KCNN1 expression79
Loss-of-function variants inMYCBP2cause neurobehavioural phenotypes and corpus callosum defects79
How COVID-19 affects microvessels in the brain78
Synaptic dysregulation in a mouse model of GRIN2D developmental and epileptic encephalopathy78
Reply: Unblinding in the lecanemab trial in Alzheimer’s disease77
Defective lipid signalling caused by mutations inPIK3C2Bunderlies focal epilepsy76
Clinical and MRI measures to identify non-acute MOG-antibody disease in adults74
Clinical features and prognostic factors in adults with brain abscess74
Long-term neuropsychological trajectories in children with epilepsy: does surgery halt decline?74
Novel insight into TRPV1-induced mitochondrial dysfunction in neuropathic pain74
Periventricular remyelination failure in multiple sclerosis: a substrate for neurodegeneration73
The cost to see the Wizard: buy-ins and trade-offs in neurological rehabilitation72
Reply: From early limbic inflammation to long COVID sequelae72
The three deceits of bureaucracy71
Evolutionary perspectives on mRNA signatures of neurodegeneration-related brain remodelling71
Extra-cranial cholinergic lesions in dementia with Lewy bodies71
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia70
Cytotoxic T cells and plasma cells dominate early in temporal lobe epilepsy with GAD antibodies70
Demystifying interictal discharges and seizure initiation in focal epilepsy70
New mechanistic insights into hereditary spastic paraplegias69
GGC repeat expansions in NOTCH2NLC cause uN2CpolyG cerebral amyloid angiopathy69
Multiple lines of evidence for disruption of nuclear lamina and nucleoporins in FUS amyotrophic lateral sclerosis69
Functional network reorganization precedes apathy in Parkinson’s disease: a neural marker of risk?68
Integrative miRNA–mRNA profiling of human epidermis: unique signature of SCN9A painful neuropathy68
Extracellular vesicle biomarkers for complement dysfunction in schizophrenia68
The low dimensionality of post-stroke cognitive deficits: it’s the lesion anatomy!67
Integrative genomics reveals pathogenic mediator of valproate-induced neurodevelopmental disability67
BMP receptor blockade overcomes extrinsic inhibition of remyelination and restores neurovascular homeostasis67
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 4066
Human platelet lysate biotherapy for traumatic brain injury: preclinical assessment66
Preclinical type 2 diabetes mellitus subtypes: new insights into diabetes, depression and dementia66
Clinically relevant mitochondrial-targeted therapy improves chronic outcomes after traumatic brain injury66
Intravenous delivery of adeno-associated viral gene therapy in feline GM1 gangliosidosis65
Hippocampal synaptic failure is an early event in experimental parkinsonism with subtle cognitive deficit65
Multifaceted nanoparticles: emerging mechanisms and therapies in neurodegenerative diseases64
Cross-seeding by prion protein inactivates TDP-4364
A generalizable data-driven model of atrophy heterogeneity and progression in memory clinic settings64
Neural stem cell therapies for spinal cord injury repair: an update on recent preclinical and clinical advances63
Disruption of DNA methylation underpins the neuroinflammation induced by targeted CNS radiotherapy63
Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing63
The interictal suppression hypothesis is the dominant differentiator of seizure onset zones in focal epilepsy63
The spectrum of disease and tau pathology of nodding syndrome in Uganda63
Multimodal mapping of regional brain vulnerability to focal cortical dysplasia60
Survival of brain tumour patients with epilepsy60
Correction to: Blood–brain barrier opening of the default mode network in Alzheimer's disease with magnetic resonance-guided focused ultrasound60
The potential of serum neurofilament as biomarker for multiple sclerosis60
How modular are modules in visual cortex?59
Neural basis of speech and grammar symptoms in non-fluent variant primary progressive aphasia spectrum59
The lysosomal β-glucocerebrosidase strikes mitochondria: implications for Parkinson’s therapeutics59
Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome59
Failure of C9orf72 sense repeat-targeting antisense oligonucleotides: lessons learned and the path forward58
Widespread white matter oedema in subacute COVID-19 patients with neurological symptoms58
From shadows to spotlight: the evolution of migraine stigma since the 17th century58
Amyloid-β predominant Alzheimer’s disease neuropathologic change58
Age-related and amyloid-beta-independent tau deposition and its downstream effects56
Genetic variability in sporadic amyotrophic lateral sclerosis56
Human lesions and animal studies link the claustrum to perception, salience, sleep and pain56
A passive and objective measure of recognition memory in Alzheimer’s disease using Fastball memory assessment55
Imaging chronic active lesions in multiple sclerosis: a consensus statement55
Anatomo-functional basis of emotional and motor resonance elicited by facial expressions55
Startle responses in Duchenne muscular dystrophy: a novel biomarker of brain dystrophin deficiency55
Interferon-γ controls aquaporin 4-specific Th17 and B cells in neuromyelitis optica spectrum disorder55
JC virus spread is potentiated by glial replication and demyelination-linked glial proliferation53
Plasma VEGFA and PGF impact longitudinal tau and cognition in preclinical Alzheimer’s disease53
Intracranial pressure spikes trigger spreading depolarizations53
Impaired value-based decision-making in Parkinson’s disease apathy53
Motor neuron TDP-43 proteinopathy in progressive supranuclear palsy and corticobasal degeneration52
Common and distinct fronto-striatal volumetric changes in heroin and cocaine use disorders52
Sleep and seizure risk in epilepsy: bed and wake times are more important than sleep duration52
Recovery from aphasia in the first year after stroke52
White matter connections within the central sulcus subserving the somato-cognitive action network52
The human subthalamic nucleus transiently inhibits active attentional processes52
A novel eye-movement impairment in multiple sclerosis indicating widespread cortical damage51
Correction to: Expanded clinical phenotype spectrum correlates with variant function in SCN2A-related disorders51
Corrigendum to: Imaging protein aggregates in the serum and cerebrospinal fluid in Parkinson’s disease51
UNC13B and focal epilepsy50
Multicompartmental models and diffusion abnormalities in paediatric mild traumatic brain injury50
Sorting out Parkinson’s disease: one cell at a time50
Untangling white matter fibre changes in Alzheimer's disease and small vessel disease49
A journey towards the pot of gold49
Reply: Do we need new MRI criteria for the diagnosis of radiologically isolated syndrome?49
In silico versus functional characterization of genetic variants: lessons from muscle channelopathies49
Neuromelanin as a nidus for neurodegeneration49
Reply: The correlation of behavioural deficits post-stroke: a trivial issue?49
Delineation of functionally essential protein regions for 242 neurodevelopmental genes49
Wheelchair use in genetically confirmed FSHD1 from a large cohort study in Chinese population48
Reply: Lecanemab: turning point, or status quo? An ethics perspective48
Pallido-putaminal connectivity predicts outcomes of deep brain stimulation for cervical dystonia47
Early onset hereditary neuronopathies: an update on non-5qmotor neuron diseases47
Random forest: random results or meaningful insights for patients with facioscapulohumeral muscular dystrophy?47
Basal forebrain integrity, cholinergic innervation and cognition in idiopathic Parkinson’s disease46
Cdc42GAP deficiency contributes to the Alzheimer’s disease phenotype46
Nigrostriatal tau pathology in parkinsonism and Parkinson’s disease46
How patients with multiple sclerosis acquire disability46
Tiam1 is part of a novel mechanism for morphine tolerance and hyperalgesia46
Microglial activation and blood–brain barrier permeability in cerebral small vessel disease46
Stimulation of frontal pathways disrupts hand muscle control during object manipulation46
Effort avoidance as a core mechanism of apathy in frontotemporal dementia46
Large-scale rare variant burden testing in Parkinson's disease46
CGRP signalling in migraine: time to look downstream?46
Characterizing proteomic and transcriptomic features of missense variants in amyotrophic lateral sclerosis genes46
Morc2a variants cause hydroxyl radical-mediated neuropathy and are rescued by restoring GHKL ATPase45
Diffusely abnormal white matter converts to T2 lesion volume in the absence of MRI-detectable acute inflammation45
Synaptic and cognitive impairment associated with L444P heterozygous glucocerebrosidase mutation45
Decomposing MRI phenotypic heterogeneity in epilepsy: a step towards personalized classification45
Smarter adaptive platform clinical trials in neurology45
Localizing epileptogenic tissues in epilepsy: are we losing (the) focus?45
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations44
PTPA variants and the risk for Parkinson’s disease in diverse ancestry populations44
Interleukin-17B is a new biomarker of human muscle regeneration in dystrophinopathies44
Correction to: Bidirectional gut-to-brain and brain-to-gut propagation of synucleinopathy in non-human primates44
The visual cortex in the blind but not the auditory cortex in the deaf becomes multiple-demand regions44
Erratum to: Reply: Broca’s area: why was neurosurgery neglected for so long when seeking to re-establish the scientific truth? and Where is the speech production area? Evidence from direct cort44
Is it time to rename hereditary cases of cerebral palsy?44
Corrigendum to: Formation and immunomodulatory function of meningeal B cell aggregates in progressive CNS autoimmunity44
Motor compensation in Parkinson’s disease: an empirical challenge with clinical implications44
Development of a novel tau propagation mouse model endogenously expressing 3 and 4 repeat tau isoforms43
Four dimensions of naturalistic language production in aphasia after stroke43
Broad activation of the Parkin pathway induces synaptic mitochondrial deficits in early tauopathy43
The basal forebrain cholinergic system as target for cell replacement therapy in Parkinson’s disease43
Seeding, maturation and propagation of amyloid β-peptide aggregates in Alzheimer’s disease42
Thalamic stereo-EEG in epilepsy surgery: where do we stand?42
The ageing central nervous system in multiple sclerosis: the imaging perspective42
Resting-state EEG reveals four subphenotypes of amyotrophic lateral sclerosis42
Imbalanced basal ganglia connectivity is associated with motor deficits and apathy in Huntington’s disease42
Shedding light on a novel circuit within primary motor cortex as a target for neuromodulation42
Motor network gamma oscillations in chronic home recordings predict dyskinesia in Parkinson’s disease41
Emotional bias modification weakens game-related compulsivity and reshapes frontostriatal pathways41
Three-dimensional mapping of neurofibrillary tangle burden in the human medial temporal lobe41
Cul-4 inhibition rescues spastin levels and reduces defects in hereditary spastic paraplegia models41
Cervical lymph nodes and ovarian teratomas as germinal centres in NMDA receptor-antibody encephalitis40
Anterior optic pathway pathology in CNS demyelinating diseases40
Amyloid-β-activated microglia can induce compound proteinopathies40
The functional role of the precuneus40
In vitro ictogenesis is stochastic at the single neuron level40
Alzheimer proteopathic tau seeds are biochemically a forme fruste of mature paired helical filaments40
Brain accumulation of lactosylceramide characterizes GALC deficiency in a zebrafish model of Krabbe disease40
Interpretable surface-based detection of focal cortical dysplasias: a Multi-centre Epilepsy Lesion Detection study40
Right temporal degeneration and socioemotional semantics: semantic behavioural variant frontotemporal dementia40
Bridging the gaps between JCV infection models and human disease40
One transgene, two myopathies: an MTM1 ‘cross gene therapy’ for BIN1 deficiency?39
Neurophysiological consequences of synapse loss in progressive supranuclear palsy39
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability39
Corrigendum to: Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG339
TGFβ4 alleviates the phenotype of Charcot–Marie–Tooth disease type 1A39
C-terminal TMEM106B fragments in human brain correlate with disease-associated TMEM106B haplotypes39
Chasing MOG antibodies down … assays and lumbar punctures38
Uncovering the distinct macro-scale anatomy of dysexecutive and behavioural degenerative diseases38
Reply: Looking beyond indirect lesion network mapping of prosopagnosia: direct measures required38
The BS variant of C4 protects against age-related loss of white matter microstructural integrity38
Reply: Methodological drawbacks in the alleged association between foetal sonographic anomalies and autism38
Of networked lesions and lesioned networks38
Great science does not communicate itself: but who should and how?38
Poor statistical reporting in a spinal cord injury clinical trial38
Reply: The challenge of assessing invasive biomarkers for epilepsy surgery and To plan efficacious epilepsy surgery38
Ockham’s razor, not a barber’s weapon but a writer’s tool38
Plasma biomarkers in chronic single moderate/severe traumatic brain injury38
Reply: Putative benefits of vitamin D supplements in multiple sclerosis out of reach due to sample size38
Reply: An epigenetic basis for genetic anticipation in facioscapulohumeral muscular dystrophy type 138
Increase of HCN current in SOD1-associated amyotrophic lateral sclerosis37
Myelination potential and injury susceptibility of grey versus white matter human oligodendrocytes37
Nifuroxazide rescues the deleterious effects due to CHCHD10-associated MICOS defects in disease models37
An extended amygdala circuit at the core of long-term post-sepsis psychiatric disorders37
Efficacy of MEDI0618, a pH-dependent monoclonal antibody targeting PAR2, in preclinical models of migraine37
Interaction of motor behaviour, cortical oscillations and deep brain stimulation in Parkinson’s disease37
Mitochondrial dynamics and bioenergetics in Alzheimer’s induced pluripotent stem cell-derived neurons37
The Wernicke conundrum revisited: evidence from connectome-based lesion-symptom mapping36
Role of pattern recognition receptors in chemotherapy-induced neuropathic pain36
Heterozygous PRKN mutations are common but do not increase the risk of Parkinson’s disease36
Limitation of life sustaining therapy in disorders of consciousness: ethics and practice36
Spreading depolarizations in ischaemia after subarachnoid haemorrhage, a diagnostic phase III study36
Genome-wide contribution of common short-tandem repeats to Parkinson’s disease genetic risk36
Phenoconversion in pure autonomic failure: a multicentre prospective longitudinal cohort study36
Genome-wide epistasis analysis reveals significant epistatic signals associated with Parkinson’s disease risk36
The importance of offering early genetic testing in everyone with amyotrophic lateral sclerosis36
Predictors of functional outcomes in patients with facioscapulohumeral muscular dystrophy36
Ligand-free mitochondria-localized mutant AR-induced cytotoxicity in spinal bulbar muscular atrophy36
Dopamine and deep brain stimulation accelerate the neural dynamics of volitional action in Parkinson's disease36
Motivational and cognitive predictors of apathy after subthalamic nucleus stimulation in Parkinson’s disease35
Dynamic reorganization of task-related network interactions in post-stroke aphasia recovery35
Defining repetitive behaviours in frontotemporal dementia35
Biallelic mutations in RNF220 cause laminopathies featuring leukodystrophy, ataxia and deafness35
Neurovascular injury with complement activation and inflammation in COVID-1935
Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort35
Clinical features and prognostic factors in adults with viral meningitis35
Clinicopathological correlates in the frontotemporal lobar degeneration–motor neuron disease spectrum35
Multimodal layer modelling reveals in vivo pathology in amyotrophic lateral sclerosis35
Seronegative autoimmune encephalitis: clinical characteristics and factors associated with outcomes35
Common molecular mechanisms ofSLC6A1variant-mediated neurodevelopmental disorders in astrocytes and neurons35
Noradrenergic alterations in Parkinson’s disease: a combined 11C-yohimbine PET/neuromelanin MRI study35
Mitochondrial damage is associated with an early immune response in inclusion body myositis35
Expedited epilepsy surgery prior to drug resistance in children: a frontier worth crossing?34
Distal symmetric polyneuropathy in diabetes: a progressive disorder?34
Bobby Fischer and the delusions of a king of logic34
Reply: Poor statistical reporting in a spinal cord injury clinical trial34
An alternative therapeutic approach to haematopoetic stem cell transplantation in early cerebral adrenoleukodystrophy34
Correction to: TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia34
Blood–CSF barrier integrity in amyotrophic lateral sclerosis34
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