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 2021-12-01 to 2025-12-01.)
ArticleCitations
Correction to: Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders410
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 o385
Methodological drawbacks in the alleged association between foetal sonographic anomalies and autism376
‘Seeding’ the idea of early diagnostics in synucleinopathies228
Trigeminal nerve microstructure is linked with neuroinflammation and brainstem activity in migraine203
PET-MRI biomarkers reveal efficacy of a novel NLRP3 inhibitor in Parkinson’s disease models201
Apathy, effort-based decisions and brain integrity in Alzheimer’s and Parkinson’s diseases196
Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 1194
ActivatingRAC1variants in the switch II region cause a developmental syndrome and alter neuronal morphology189
Associations between accelerated forgetting, amyloid deposition and brain atrophy in older adults189
In vivo self-assembled siRNAs ameliorate neurological pathology in TDP-43-associated neurodegenerative disease185
Genetically identical twin-pair difference models support the amyloid cascade hypothesis185
We’re all in this together: a rejoinder to Masud Husain’s (rant) editorial178
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder171
Deep brain stimulation: a tale of two targets … and closing the loop166
Peripherin is a biomarker of axonal damage in Guillain-Barré syndrome: a pathophysiological annotation166
The axon initial segment as a source of neuropathic pain149
Optogenetic stimulation of the superior colliculus suppresses genetic absence seizures149
Dysregulated cortical excitability and tau phosphorylation in a β3 integrin mouse model of autism148
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy143
Lesion correlates of impaired acoustic-phonetic perception after unilateral left hemisphere stroke141
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features141
Mapping the peripheral immune landscape of Parkinson’s disease patients with single-cell sequencing140
Dysfunction of the magnocellular subdivision of the visual thalamus in developmental dyslexia137
Somatic variants of MAP3K3 are sufficient to cause cerebral and spinal cord cavernous malformations136
The vascular contribution of apolipoprotein E to Alzheimer’s disease136
Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study125
Global network and local vulnerabilities underlie brain atrophy across Parkinson’s disease stages124
Clinical dimensions along the non-fluent variant primary progressive aphasia spectrum124
The use of optical coherence tomography in neurology: a review117
The inferior fronto-occipital fasciculus: bridging phylogeny, ontogeny and functional anatomy115
Cerebral amyloid angiopathy interacts with neuritic amyloid plaques to promote tau and cognitive decline114
Thalamostriatal disconnection underpins long-term seizure freedom in frontal lobe epilepsy surgery112
Distinct subcellular autophagy impairments in induced neurons from patients with Huntington's disease109
Diffusion MRI tracks cortical microstructural changes during the early stages of Alzheimer’s disease108
Source-sink connectivity: a novel interictal EEG marker for seizure localization107
Speech and language markers of neurodegeneration: a call for global equity105
3T MRI of rapid brain activity changes driven by subcallosal cingulate deep brain stimulation103
A data-driven study of Alzheimer's disease related amyloid and tau pathology progression101
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes100
Brain cholesterol and Alzheimer's disease: challenges and opportunities in probe and drug development99
Impaired ribosome-associated quality control of C9orf72 arginine-rich dipeptide-repeat proteins99
‘Hippocampal innate inflammatory gliosis only’ in pharmacoresistant temporal lobe epilepsy98
Brain repair mechanisms after cell therapy for stroke96
From bugs to brain: unravelling the GABA signalling networks in the brain–gut–microbiome axis93
Correction to: New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy92
Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder91
Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients90
Demystifying interictal discharges and seizure initiation in focal epilepsy90
Structural covariance analysis for neurodegenerative and neuroinflammatory brain disorders89
The spectrum of disease and tau pathology of nodding syndrome in Uganda89
Reply: Unblinding in the lecanemab trial in Alzheimer’s disease89
Cortical cerebral microinfarcts spark cognitive decline89
Evolutionary perspectives on mRNA signatures of neurodegeneration-related brain remodelling88
Normalization of network activity in an epilepsy model with a constitutively active GABBR2 variant88
Midbrain cytotoxic T cells as a distinct neuropathological feature of progressive supranuclear palsy87
That which we call cortisol awakening response, by any other word would smell as sweet86
The three deceits of bureaucracy84
Extra-cranial cholinergic lesions in dementia with Lewy bodies84
New mechanistic insights into hereditary spastic paraplegias83
Disruption of DNA methylation underpins the neuroinflammation induced by targeted CNS radiotherapy81
Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1–ADAM22/23 pathway81
Preclinical type 2 diabetes mellitus subtypes: new insights into diabetes, depression and dementia81
Treatment-resistant recurrent unipolar and bipolar depression: associative learning abnormalities81
Functional network reorganization precedes apathy in Parkinson’s disease: a neural marker of risk?80
How COVID-19 affects microvessels in the brain80
Activation and sensitization of meningeal nociceptors by PACAP-38: implications for migraine headache79
Integrative genomics reveals pathogenic mediator of valproate-induced neurodevelopmental disability79
Integrative miRNA–mRNA profiling of human epidermis: unique signature of SCN9A painful neuropathy78
The interictal suppression hypothesis is the dominant differentiator of seizure onset zones in focal epilepsy78
Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia78
Hippocampal synaptic failure is an early event in experimental parkinsonism with subtle cognitive deficit77
Multiple sclerosis in Denmark (1950–2023): mean age, sex distribution, incidence and prevalence77
Cross-seeding by prion protein inactivates TDP-4376
Loss-of-function variants inMYCBP2cause neurobehavioural phenotypes and corpus callosum defects76
Clinically relevant mitochondrial-targeted therapy improves chronic outcomes after traumatic brain injury75
Periventricular remyelination failure in multiple sclerosis: a substrate for neurodegeneration74
GGC repeat expansions in NOTCH2NLC cause uN2CpolyG cerebral amyloid angiopathy74
Routes of precursors’ migration in remyelination72
Multiple lines of evidence for disruption of nuclear lamina and nucleoporins in FUS amyotrophic lateral sclerosis72
The low dimensionality of post-stroke cognitive deficits: it’s the lesion anatomy!72
Genome-wide association study of neuropathological features in Lewy body disease71
Clinical and MRI measures to identify non-acute MOG-antibody disease in adults70
Clinical features and prognostic factors in adults with brain abscess68
A generalizable data-driven model of atrophy heterogeneity and progression in memory clinic settings68
Multifaceted nanoparticles: emerging mechanisms and therapies in neurodegenerative diseases68
Deciphering the impact of coding and non-coding SCN1A gene variants on RNA splicing68
Multicentre analysis of seizure outcome predicted by removal of high-frequency oscillations67
Synaptic dysregulation in a mouse model of GRIN2D developmental and epileptic encephalopathy67
Multimodal mapping of regional brain vulnerability to focal cortical dysplasia66
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 4066
Long-term neuropsychological trajectories in children with epilepsy: does surgery halt decline?65
Extracellular vesicle biomarkers for complement dysfunction in schizophrenia65
Cytotoxic T cells and plasma cells dominate early in temporal lobe epilepsy with GAD antibodies64
Defective lipid signalling caused by mutations inPIK3C2Bunderlies focal epilepsy64
A sensory neuron-specific long non-coding RNA reduces neuropathic pain by rescuing KCNN1 expression64
How modular are modules in visual cortex?63
Novel insight into TRPV1-induced mitochondrial dysfunction in neuropathic pain63
From shadows to spotlight: the evolution of migraine stigma since the 17th century63
Neural stem cell therapies for spinal cord injury repair: an update on recent preclinical and clinical advances63
Correction to: Sex-specific modulation of amyloid-β on tau phosphorylation underlies faster tangle accumulation in females62
Correction to: Remyelination of chronic demyelinated lesions with directly induced neural stem cells61
Misdirected yet intact TREX1 exonuclease activity causes human cerebral and systemic small vessel disease61
Correction to: Blood–brain barrier opening of the default mode network in Alzheimer's disease with magnetic resonance-guided focused ultrasound61
Wheelchair use in genetically confirmed FSHD1 from a large cohort study in Chinese population60
Decoding inflammatory pathways in spinal muscular atrophy: implications for next-generation therapies60
Neural basis of speech and grammar symptoms in non-fluent variant primary progressive aphasia spectrum60
White matter connections within the central sulcus subserving the somato-cognitive action network60
A novel eye-movement impairment in multiple sclerosis indicating widespread cortical damage60
Role of CD5 signalling for pro-inflammatory Th17 response in multiple sclerosis60
Reduced striatal dopamine transmission as a transdiagnostic substrate of psychomotor retardation59
Sorting out Parkinson’s disease: one cell at a time58
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 journey towards the pot of gold57
Reply: The correlation of behavioural deficits post-stroke: a trivial issue?57
Neuromelanin as a nidus for neurodegeneration57
Delineation of functionally essential protein regions for 242 neurodevelopmental genes57
Reply: Do we need new MRI criteria for the diagnosis of radiologically isolated syndrome?57
Reply: Lecanemab: turning point, or status quo? An ethics perspective56
Repeat conformation heterogeneity in cerebellar ataxia, neuropathy, vestibular areflexia syndrome56
UNC13B and focal epilepsy56
Estimating the time course of biomarker changes in Alzheimer’s disease56
In silico versus functional characterization of genetic variants: lessons from muscle channelopathies56
Endosomal 2Cl−/H+ exchangers regulate neuronal excitability by tuning Kv7/KCNQ channel density55
Distinct cerebellar networks underpin clinical improvement in adolescent Tourette disorder55
Impaired value-based decision-making in Parkinson’s disease apathy55
Early onset hereditary neuronopathies: an update on non-5qmotor neuron diseases55
Cdc42GAP deficiency contributes to the Alzheimer’s disease phenotype55
Sleep and seizure risk in epilepsy: bed and wake times are more important than sleep duration55
JC virus spread is potentiated by glial replication and demyelination-linked glial proliferation55
Common and distinct fronto-striatal volumetric changes in heroin and cocaine use disorders55
Large-scale rare variant burden testing in Parkinson's disease55
Human lesions and animal studies link the claustrum to perception, salience, sleep and pain54
Startle responses in Duchenne muscular dystrophy: a novel biomarker of brain dystrophin deficiency54
Age-related and amyloid-beta-independent tau deposition and its downstream effects53
Basal forebrain integrity, cholinergic innervation and cognition in idiopathic Parkinson’s disease53
Motor neuron TDP-43 proteinopathy in progressive supranuclear palsy and corticobasal degeneration53
Failure of C9orf72 sense repeat-targeting antisense oligonucleotides: lessons learned and the path forward53
The lysosomal β-glucocerebrosidase strikes mitochondria: implications for Parkinson’s therapeutics52
Anatomo-functional basis of emotional and motor resonance elicited by facial expressions52
Widespread white matter oedema in subacute COVID-19 patients with neurological symptoms52
Nigrostriatal tau pathology in parkinsonism and Parkinson’s disease52
Imaging chronic active lesions in multiple sclerosis: a consensus statement52
Recovery from aphasia in the first year after stroke52
Effort avoidance as a core mechanism of apathy in frontotemporal dementia52
The human subthalamic nucleus transiently inhibits active attentional processes52
Occludin modulates HIV and ischaemic stroke response via mitochondrial antiviral signalling pathway52
Multicompartmental models and diffusion abnormalities in paediatric mild traumatic brain injury52
Interferon-γ controls aquaporin 4-specific Th17 and B cells in neuromyelitis optica spectrum disorder52
Bridging the gaps between JCV infection models and human disease51
Amyloid-β predominant Alzheimer’s disease neuropathologic change51
Plasma VEGFA and PGF impact longitudinal tau and cognition in preclinical Alzheimer’s disease51
Is it time to rename hereditary cases of cerebral palsy?51
How patients with multiple sclerosis acquire disability51
Motor compensation in Parkinson’s disease: an empirical challenge with clinical implications51
Genetic variability in sporadic amyotrophic lateral sclerosis51
Tiam1 is part of a novel mechanism for morphine tolerance and hyperalgesia50
Correction to: Bidirectional gut-to-brain and brain-to-gut propagation of synucleinopathy in non-human primates50
Morc2a variants cause hydroxyl radical-mediated neuropathy and are rescued by restoring GHKL ATPase50
Shedding light on a novel circuit within primary motor cortex as a target for neuromodulation50
The visual cortex in the blind but not the auditory cortex in the deaf becomes multiple-demand regions50
Amyloid-β-activated microglia can induce compound proteinopathies49
Understanding brain calcification via N-terminal acetylation at the Golgi apparatus49
CGRP signalling in migraine: time to look downstream?49
Localizing epileptogenic tissues in epilepsy: are we losing (the) focus?49
Surgical white matter disruption leads to downstream atrophy in the non-resected human brain49
Thalamic stereo-EEG in epilepsy surgery: where do we stand?48
Biomarker evidence of neurodegeneration in mid-life former rugby players47
Four dimensions of naturalistic language production in aphasia after stroke47
Smarter adaptive platform clinical trials in neurology47
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations47
Ageing and remyelination failure in people with multiple sclerosis47
USP25 in genetic generalized epilepsy: a gene under scrutiny47
The basal forebrain cholinergic system as target for cell replacement therapy in Parkinson’s disease47
Characterizing proteomic and transcriptomic features of missense variants in amyotrophic lateral sclerosis genes46
Motor network gamma oscillations in chronic home recordings predict dyskinesia in Parkinson’s disease46
C-terminal TMEM106B fragments in human brain correlate with disease-associated TMEM106B haplotypes46
Brain accumulation of lactosylceramide characterizes GALC deficiency in a zebrafish model of Krabbe disease46
A foothold in detection of limbic-predominant age-related TDP-43 encephalopathy46
Anterior optic pathway pathology in CNS demyelinating diseases46
Cul-4 inhibition rescues spastin levels and reduces defects in hereditary spastic paraplegia models46
Interleukin-17B is a new biomarker of human muscle regeneration in dystrophinopathies46
Broad activation of the Parkin pathway induces synaptic mitochondrial deficits in early tauopathy46
PTPA variants and the risk for Parkinson’s disease in diverse ancestry populations45
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
Synaptic and cognitive impairment associated with L444P heterozygous glucocerebrosidase mutation45
Right temporal degeneration and socioemotional semantics: semantic behavioural variant frontotemporal dementia45
Diffusely abnormal white matter converts to T2 lesion volume in the absence of MRI-detectable acute inflammation45
Interpretable surface-based detection of focal cortical dysplasias: a Multi-centre Epilepsy Lesion Detection study45
Of networked lesions and lesioned networks44
Reply: Methodological drawbacks in the alleged association between foetal sonographic anomalies and autism44
Reply: Putative benefits of vitamin D supplements in multiple sclerosis out of reach due to sample size44
Emotional bias modification weakens game-related compulsivity and reshapes frontostriatal pathways44
The ageing central nervous system in multiple sclerosis: the imaging perspective44
Poor statistical reporting in a spinal cord injury clinical trial44
Reply: The challenge of assessing invasive biomarkers for epilepsy surgery and To plan efficacious epilepsy surgery44
TGFβ4 alleviates the phenotype of Charcot–Marie–Tooth disease type 1A44
Seeding, maturation and propagation of amyloid β-peptide aggregates in Alzheimer’s disease44
Medial temporal lobe structural changes when Down syndrome and Alzheimer’s disease collide44
Chasing MOG antibodies down … assays and lumbar punctures44
Ockham’s razor, not a barber’s weapon but a writer’s tool44
Plasma biomarkers in chronic single moderate/severe traumatic brain injury44
The functional role of the precuneus44
Multimodal layer modelling reveals in vivo pathology in amyotrophic lateral sclerosis43
Increase of HCN current in SOD1-associated amyotrophic lateral sclerosis43
One transgene, two myopathies: an MTM1 ‘cross gene therapy’ for BIN1 deficiency?43
Defining repetitive behaviours in frontotemporal dementia43
Great science does not communicate itself: but who should and how?42
Mitochondrial dynamics and bioenergetics in Alzheimer’s induced pluripotent stem cell-derived neurons42
An extended amygdala circuit at the core of long-term post-sepsis psychiatric disorders42
Limitation of life sustaining therapy in disorders of consciousness: ethics and practice42
Reply: Neural substrates of the link between dual-task gait and dementia: an intermediary step in which direction?42
Analysing an allelic series of rare missense variants of CACNA1I in a Swedish schizophrenia cohort42
Ligand-free mitochondria-localized mutant AR-induced cytotoxicity in spinal bulbar muscular atrophy42
Efficacy of MEDI0618, a pH-dependent monoclonal antibody targeting PAR2, in preclinical models of migraine41
Dynamic reorganization of task-related network interactions in post-stroke aphasia recovery41
Reply: An epigenetic basis for genetic anticipation in facioscapulohumeral muscular dystrophy type 141
Nifuroxazide rescues the deleterious effects due to CHCHD10-associated MICOS defects in disease models41
Uncovering the distinct macro-scale anatomy of dysexecutive and behavioural degenerative diseases41
The importance of offering early genetic testing in everyone with amyotrophic lateral sclerosis40
Memory deficits of MDMA users are linked to cortical thinning related to 5-HT receptor densities40
Cerebellar pathology contributes to neurodevelopmental deficits in spinal muscular atrophy40
Direct electrical brain stimulation of human memory: lessons learnt and future perspectives40
Genome-wide epistasis analysis reveals significant epistatic signals associated with Parkinson’s disease risk40
Brainstem cavernous malformations: observation, microsurgical resection or stereotactic radiosurgery40
Myelination potential and injury susceptibility of grey versus white matter human oligodendrocytes40
Expedited epilepsy surgery prior to drug resistance in children: a frontier worth crossing?40
Mitochondrial damage is associated with an early immune response in inclusion body myositis39
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability39
Heterozygous PRKN mutations are common but do not increase the risk of Parkinson’s disease39
Motivational and cognitive predictors of apathy after subthalamic nucleus stimulation in Parkinson’s disease39
Clinicopathological correlates in the frontotemporal lobar degeneration–motor neuron disease spectrum39
Connectivity as a universal predictor of tau progression in atypical Alzheimer’s disease39
The Wernicke conundrum revisited: evidence from connectome-based lesion-symptom mapping39
Intra-putaminal muscarinic receptor agonist infusion induces a dystonic phenotype in non-human primates39
Noradrenergic alterations in Parkinson’s disease: a combined 11C-yohimbine PET/neuromelanin MRI study38
Functional connectivity drives stroke recovery: shifting the paradigm from correlation to causation38
Interaction of motor behaviour, cortical oscillations and deep brain stimulation in Parkinson’s disease38
Phenotypic individual clusters and metabolic tuber subtypes refine surgical strategy in tuberous sclerosis complex38
Neurophysiological consequences of synapse loss in progressive supranuclear palsy38
Genome-wide contribution of common short-tandem repeats to Parkinson’s disease genetic risk38
Spreading depolarizations in ischaemia after subarachnoid haemorrhage, a diagnostic phase III study38
Role of pattern recognition receptors in chemotherapy-induced neuropathic pain38
Seronegative autoimmune encephalitis: clinical characteristics and factors associated with outcomes38
Clinical features and prognostic factors in adults with viral meningitis38
Reply: Wheelchair use in genetically confirmed FSHD1 from a large cohort study in Chinese population37
Different factors underlie mild and severe forms of spinal muscular atrophy37
On the complex localization and phenomenology of pathological laughter and crying37
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