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 2021-04-01 to 2025-04-01.)
ArticleCitations
Erratum to: Cardiovascular brain impulses in Alzheimer’s disease324
Peripherin is a biomarker of axonal damage in Guillain-Barré syndrome: a pathophysiological annotation311
Corrigendum to: Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum300
Redefining diagnostic lesional status in temporal lobe epilepsy with artificial intelligence296
Erratum to: Reply: UQCRC1 variants in Parkinson’s disease: a large cohort study in Chinese mainland population262
Dysregulation of muscle cholesterol transport in amyotrophic lateral sclerosis259
Vessel size and clinical features in vasculitic neuropathy: dichotomy or continuum?175
Clinical-grade intranasal NGF fuels neurological and metabolic functions of Mecp2-deficient mice167
Raised intracranial pressure alters cortical vascular function and cephalic allodynia157
Stereo-EEG propagating source reconstruction identifies new surgical targets for epilepsy patients157
From bugs to brain: unravelling the GABA signalling networks in the brain–gut–microbiome axis150
The inferior fronto-occipital fasciculus: bridging phylogeny, ontogeny and functional anatomy148
CD21lo B cell subsets are recruited to the central nervous system in acute neuromyelitis optica147
Fetal malformations of cortical development: review and clinical guidance135
Distinctive clinical features in biopsy-proven nerve large-arteriole vasculitis and microvasculitis135
Machine learning reveals connections between preclinical type 2 diabetes subtypes and brain health134
Reply: Overstating harms can have consequences130
‘Seeding’ the idea of early diagnostics in synucleinopathies127
Corrigendum to: Comparative connectivity correlates of dystonic and essential tremor deep brain stimulation127
Diffusion MRI tracks cortical microstructural changes during the early stages of Alzheimer’s disease123
CNS manifestations in acute and chronic graft-versus-host disease122
NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia121
Speech and language markers of neurodegeneration: a call for global equity121
Pre-symptomatic spinal muscular atrophy: a proposed nosology118
Correction to: Variants in the SK2 channel gene (KCNN2) lead to dominant neurodevelopmental movement disorders115
Navigating the recurrent perplexity of prefrontal function115
Reducing the risks of nuclear war: the role of health professionals115
Predicting behavioural outcomes after stroke: from computational challenge towards individualized rehabilitation?113
Distinct neuroinflammatory signatures exist across genetic and sporadic amyotrophic lateral sclerosis cohorts111
Venglustat combined with imiglucerase for neurological disease in adults with Gaucher disease type 3: the LEAP trial110
Brain cholesterol and Alzheimer's disease: challenges and opportunities in probe and drug development110
Age at onset of genetic disease and genetic dependent stage: evidence from cases with SCN1A variants108
Recovered grasping performance after stroke depends on interhemispheric frontoparietal connectivity103
Distinct roles of mTORC2 in excitatory and inhibitory neurons in inflammatory and neuropathic pain103
Beyond crystal balls: multimodal prediction of early recovery of consciousness103
The effect of Lewy body (co-)pathology on the clinical and imaging phenotype of amnestic patients102
Notes on establishing fear conditioning as causal in the postural orthostatic tachycardia syndrome102
Corrigendum to: Monitoring the progression of Alzheimer's disease with τ-PET100
COP27 Climate Change Conference: urgent action needed for Africa and the world99
Transcriptomic and connectomic correlates of differential spatial patterning among gliomas98
Memantine: a novel treatment for children with developmental and epileptic encephalopathies98
A CAG repeat threshold for therapeutics targeting somatic instability in Huntington's disease96
Targeting enkephalins and pituitary adenylate cyclase-activating polypeptide (PACAP) in migraine96
Hippocampal excitation-inhibition balance underlies the 5-HT2C receptor in modulating depressive behaviours96
Correction to: Cytotoxic T cells and plasma cells dominate early in temporal lobe epilepsy with GAD antibodies96
Cognitive flexibility, OCD and the brain95
What plasma biomarkers tell us about hippocampal microstructural changes in Alzheimer’s disease93
Correction to: Multimodal mapping of regional brain vulnerability to focal cortical dysplasia86
Engram and ecphory: the performing pianist and retrieval of memory86
A novel MLIP truncating variant in an 80-year-old patient with late-onset progressive weakness85
Double vision84
Time to treat the climate and nature crisis as one indivisible global health emergency84
Correction to: Where have prions been all our lives?83
Should concepts of brain functions be based on psychology or anatomy? An echo from Kurt Goldstein83
Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes82
Magnetic resonance reveals mitochondrial dysfunction and muscle remodelling in spinal muscular atrophy81
Mutation in senataxin alters the mechanism of R-loop resolution in amyotrophic lateral sclerosis 479
Preventing neurodegenerative disease79
Serotonergic dysfunction impairs locomotor coordination in spinal muscular atrophy77
RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity76
Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema76
Spatiotemporal dynamics between interictal epileptiform discharges and ripples during associative memory processing75
Erratum to: Complete sequencing of expanded SAMD12 repeats by long-read sequencing and Cas9-mediated enrichment75
Somatosensory awareness in the parietal operculum74
Ventromedial prefrontal cortex lesions disrupt learning to reward others74
Clinical and genetic landscape of optic atrophy in 826 families: insights from 50 nuclear genes74
Modulating inhibitory synaptic plasticity to restore basal ganglia dynamics in Parkinson’s disease72
Trigeminal nerve microstructure is linked with neuroinflammation and brainstem activity in migraine72
Distinct neuronal circuits mediate cortical hyperexcitability in amyotrophic lateral sclerosis72
18F-MK-6240 tau-PET in genetic frontotemporal dementia71
Neuropsychiatric disorders following SARS-CoV-2 infection70
One step closer towards personalized epilepsy management69
Assessment and prediction of glioblastoma therapy response: challenges and opportunities69
Inhibiting mitochondrial fission rescues degeneration in hereditary spastic paraplegia neurons69
Neurophysiological mechanisms of deep brain stimulation across spatiotemporal resolutions68
Translating genetic and functional data into clinical practice: a series of 223 families with myotonia68
Lesion correlates of impaired acoustic-phonetic perception after unilateral left hemisphere stroke68
Lesions to both somatic and affective pain pathways lead to decreased salience network connectivity67
The impact of integrated brain molecular PET measures on DLB cognitive phenotype and clinical course67
Wittgenstein, neurology, and neuroscience67
Running up that pill for amyotrophic lateral sclerosis66
Impaired ribosome-associated quality control of C9orf72 arginine-rich dipeptide-repeat proteins66
Glycolysis regulates neuronal excitability via lactate receptor, HCA1R65
Using in vivo functional and structural connectivity to predict chronic stroke aphasia deficits65
The etymology of ‘neurology’, redux: early use of the term by Jean Riolan the Younger (1610)65
Reward insensitivity is associated with dopaminergic deficit in rapid eye movement sleep behaviour disorder65
Cancer meets neuroscience: the association between glioma occurrence and intrinsic brain features64
Thalamostriatal disconnection underpins long-term seizure freedom in frontal lobe epilepsy surgery63
Complex genetic variants and novel phenotypes in hereditary peripheral neuropathies63
Quantitative approaches to guide epilepsy surgery from intracranial EEG63
Proust and his neurologists: the challenge of functional disorders62
Brain microstructural and metabolic alterations detected in vivo at onset of the first demyelinating event62
Choroid plexus mis-splicing and altered cerebrospinal fluid composition in myotonic dystrophy type 162
An in vivo Caenorhabditis elegans model for therapeutic research in human prion diseases62
Where is the speech production area? Evidence from direct cortical electrical stimulation mapping61
Genetic risk factor clustering within and across neurodegenerative diseases61
From a different angle: 50 years of cerebral computed tomography61
Functional protection in J20/VLW mice: a model of non-demented with Alzheimer’s disease neuropathology61
Lesion location and lesion creation affect outcomes after focused ultrasound thalamotomy61
New insights into the genetics of stuttering60
Speak, memory: on cognitive reserve and brain resilience59
Clinical dimensions along the non-fluent variant primary progressive aphasia spectrum59
Erratum to: The Developing Human Connectome Project: typical and disrupted perinatal functional connectivity59
Pathogenic mechanisms underlying SLC6A1 variant-mediated neurodevelopmental disorders59
Predicting neurological recovery after traumatic spinal cord injury by time-resolved analysis of monocyte subsets59
Blocking an epitope of misfolded SOD1 ameliorates disease phenotype in a model of amyotrophic lateral sclerosis59
The multifaceted role of neurofilament light chain protein: emerging opportunities in primary psychiatric conditions58
Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder58
Reversal of behavioural phenotype by the cannabinoid-like compound VSN16R in fragile X syndrome mice58
Computational neuroscience: a grand unifying theory?57
Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 557
Sleep and future cognitive decline57
Clinical and genetic spectra of 1550 index patients with hereditary spastic paraplegia56
Increased expression of SLC25A1/CIC causes an autistic-like phenotype with altered neuron morphology56
Maf1 loss regulates spinogenesis and attenuates cognitive impairment in Alzheimer’s disease55
The efficacy and deficiency of contemporary treatment for spinal cord arteriovenous shunts55
Gut microbiome correlates with plasma lipids in amyotrophic lateral sclerosis55
Normative brain mapping of interictal intracranial EEG to localize epileptogenic tissue54
Early life predictors of late life cerebral small vessel disease in four prospective cohort studies54
Sleep and longitudinal cognitive performance in preclinical and early symptomatic Alzheimer’s disease54
c-Abl phosphorylation primes PARIS for neurodegeneration53
Neuroinflammation is highest in areas of disease progression in semantic dementia53
Impaired cholinergic integrity of the colon and pancreas in dementia with Lewy bodies52
The axon initial segment as a source of neuropathic pain52
Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation52
A robust brain signature region approach for episodic memory performance in older adults52
Anoctamin-5 related muscle disease: clinical and genetic findings in a large European cohort52
Topographic divergence of atypical cortical asymmetry and atrophy patterns in temporal lobe epilepsy52
Physick to Physiology52
Neuropathic pain correlates with worsening cognition in people with human immunodeficiency virus51
Deep brain stimulation: a tale of two targets … and closing the loop51
Towards therapeutic non-invasive electrical modulation of brain circuits in Parkinson’s disease50
Ataxia with giant axonopathy in Acbd5-deficient mice halted by adeno-associated virus gene therapy50
Distinct subcellular autophagy impairments in induced neurons from patients with Huntington's disease50
Nav1.2 channel mutations preventing fast inactivation lead to SCN2A encephalopathy49
Quantitative susceptibility mapping at 7 T in COVID-19: brainstem effects and outcome associations49
The effect of Huntington’s disease on cognitive and physical motivation49
Reply: UNC13B and focal epilepsy49
Reply: A call for caution: ‘stop that’ sentiments threaten tic research, healthcare and advocacy progress49
Epigenetic and integrative cross-omics analyses of cerebral white matter hyperintensities on MRI48
Peripheral tau as a biomarker for neurodegenerative diseases: is life on Earth, life on Mars?48
A cell autonomous regulator of neuronal excitability modulates tau in Alzheimer’s disease vulnerable neurons48
Structural (dys)connectivity associates with cholinergic cell density in Alzheimer’s disease48
Vitamin D did not reduce multiple sclerosis disease activity after a clinically isolated syndrome48
A new type of blood–brain barrier aminoacidopathy underlies metabolic microcephaly associated with SLC1A4 mutations47
Multi-ancestry GWAS reveals excitotoxicity associated with outcome after ischaemic stroke47
When brain size matters: novel insights into brain volume control47
Mapping interictal discharges using intracranial EEG-fMRI to predict postsurgical outcomes47
SORD-deficient rats develop a motor-predominant peripheral neuropathy unveiling novel pathophysiological insights47
Biallelic ADAM22 pathogenic variants cause progressive encephalopathy and infantile-onset refractory epilepsy46
Enhancing cognitive performance prediction by white matter hyperintensity connectivity assessment46
The anatomy of melancholy revisited after 400 years46
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features46
Clinical and genetic spectrum of 355 Chinese children with epilepsy: a trio-sequencing-based study46
Functional variant rs2270363 on 16p13.3 confers schizophrenia risk by regulating NMRAL146
Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder45
A mutation in the PRKAR1B gene drives pathological mechanisms of neurodegeneration across species45
A new Essay competition for Brain45
ATP1A3 dysfunction causes motor hyperexcitability and afterhyperpolarization loss in a dystonia model45
Late-onset temporal lobe epilepsy: insights from brain atrophy and Alzheimer’s disease biomarkers45
Trigeminal microvascular decompression for short-lasting unilateral neuralgiform headache attacks45
Low-intensity ultrasound ameliorates brain organoid integration and rescues microcephaly deficits45
Astroglial reactivity is a key modulator of Alzheimer’s disease pathological progression45
Forecasting stroke-like episodes and outcomes in mitochondrial disease44
Dysfunction of the magnocellular subdivision of the visual thalamus in developmental dyslexia44
The vascular contribution of apolipoprotein E to Alzheimer’s disease44
Contribution of B cells to cortical damage in multiple sclerosis44
Ash1l loss-of-function results in structural birth defects and altered cortical development44
Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome44
Recurrent de novo mutations in CLDN5 induce an anion-selective blood–brain barrier and alternating hemiplegia44
Aqp4 stop codon readthrough facilitates amyloid-β clearance from the brain43
Grey matter ageing-related tau astrogliopathy: associations with brain pathologies and cognitive decline43
Conserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes43
Exploring the impact of somatic variant burden on seizures in focal cortical dysplasia43
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 o43
‘Hippocampal innate inflammatory gliosis only’ in pharmacoresistant temporal lobe epilepsy43
Shared patterns of glial transcriptional dysregulation link Huntington’s disease and schizophrenia42
Sex differences in Alzheimer’s disease risk: are immune responses the key?42
Enhanced behavioural and neural sensitivity to punishments in chronic pain and fatigue42
MNK1/2 contributes to periorbital hypersensitivity and hyperalgesic priming in preclinical migraine models42
2023 Brain essay competition results42
Age at onset mediates genetic impact on disease severity in facioscapulohumeral muscular dystrophy42
Dopamine neuron dysfunction and loss in the PrknR275W mouse model of juvenile parkinsonism42
Predictive precision medicine efforts for voltage-gated sodium channel genetic variants42
Molecular pathology and biomarker of progression in Alzheimer’s disease41
Le Bal des Folles41
Deciphering the physiopathology of neurodevelopmental disorders using brain organoids41
Methodological drawbacks in the alleged association between foetal sonographic anomalies and autism41
Connecting dementia risk loci to the CSF proteome identifies pathophysiological leads for dementia41
The expanding clinical and genetic spectrum of DYNC1H1-related disorders41
Reply: Is it time to rename hereditary cases of cerebral palsy?41
Proteomic clusters underlie heterogeneity in preclinical Alzheimer’s disease progression40
Disruption of the blood–brain barrier in 22q11.2 deletion syndrome40
TwoRFC1splicing variants in CANVAS40
Location, location, location: myelin repair and proximity to ventricular CSF in multiple sclerosis40
Lesion network mapping predicts post-stroke behavioural deficits and improves localization40
Guillain-Barré syndrome, SARS-CoV-2 and molecular mimicry40
Novel gene–intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy40
Towards in vivo PET imaging of primary age-related tauopathy40
Glucocorticoid-driven mitochondrial damage stimulates Tau pathology40
The impact of phosphorylated PTEN at threonine 366 on cortical connectivity and behaviour39
In-depth mass-spectrometry reveals phospho-RAB12 as a blood biomarker of G2019S LRRK2-driven Parkinson’s disease39
Altered synaptic connectivity in anin vitrohuman model of STXBP1 encephalopathy39
Droplet digital PCR as a first-tier molecular diagnostic tool for focal cortical dysplasia type II39
Reply: Arcuate fasciculus’ middle and ventral temporal connections undercut by tract-tracing evidence39
Exploring the link between dystrophic microglia and the spread of Alzheimer's neuropathology39
The use of optical coherence tomography in neurology: a review38
Unravelling the origin of reward positivity: a human intracranial event-related brain potential study38
Dysregulation of protein SUMOylation networks in Huntington’s disease R6/2 mouse striatum38
Shh activation restores interneurons and cognitive function in newborns with intraventricular haemorrhage38
Inflammatory brain injury after severe viral infection is not unique to COVID-1938
Parallel in-depth analysis of repeat expansions in ataxia patients by long-read sequencing38
Distinct signatures of loss of consciousness in focal impaired awareness versus tonic-clonic seizures38
CCL2 blockade combined with PD-1/P-selectin immunomodulators impedes breast cancer brain metastasis38
Functional reconstruction of the basal ganglia neural circuit by human striatal neurons in hypoxic–ischaemic injured brain38
Sensory axonal neuropathy in RFC1-disease: tip of the iceberg of broad subclinical multisystemic neurodegeneration37
Correction to: INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH37
Synaptopathy: presynaptic convergence in frontotemporal dementia and amyotrophic lateral sclerosis37
On-demand low-frequency stimulation for seizure control: efficacy and behavioural implications37
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies37
Corrigendum to: UNC13B variants associated with partial epilepsy with favourable outcome37
Novel modelling approaches to elucidate the genetic architecture of resilience to Alzheimer's disease37
Somatic variants of MAP3K3 are sufficient to cause cerebral and spinal cord cavernous malformations37
Neuronal intranuclear inclusion disease in patients with adult-onset non-vascular leukoencephalopathy37
Are we entering the ‘Tau-lemaic’ era of Parkinson’s disease?37
Temporal lobe epilepsy with GAD antibodies: neurons killed by T cells not by complement membrane attack complex37
Correction to: Microbiota from Alzheimer's patients induce deficits in cognition and hippocampal neurogenesis37
Nuclear receptor PPARγ targets GPNMB to promote oligodendrocyte development and remyelination37
Brain repair mechanisms after cell therapy for stroke37
The most valuable player or the tombstone: is tau the correct target to treat Alzheimer’s disease?37
Lymphotoxin-alpha expression in the meninges causes lymphoid tissue formation and neurodegeneration37
Schizophrenia-associated changes in neuronal subpopulations in the human midbrain36
Loss of the neuronal kinase DCLK3 leads to anxiety-like behaviour and memory deficits36
Transthyretin attenuates TDP-43 proteinopathy by autophagy activation via ATF4 in FTLD-TDP36
Methylation of the 4q35 D4Z4 repeat defines disease status in facioscapulohumeral muscular dystrophy36
COVID-19 induces CNS cytokine expression and loss of hippocampal neurogenesis35
A brain atlas of axonal and synaptic delays based on modelling of cortico-cortical evoked potentials35
An epigenetic basis for genetic anticipation in facioscapulohumeral muscular dystrophy type 135
Post-acute blood biomarkers and disease progression in traumatic brain injury35
Identification of biopsychological trait markers in functional neurological disorders35
The multidimensional nature of aphasia recovery post-stroke35
Blockage of STAT3 during epileptogenesis prevents GABAergic loss and imprinting of the epileptic state35
CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability35
Spectrum of sublytic astrocytopathy in neuromyelitis optica35
3T MRI of rapid brain activity changes driven by subcallosal cingulate deep brain stimulation35
Single unit analysis and wide-field imaging reveal alterations in excitatory and inhibitory neurons in glioma35
Distinct brainstem to spinal cord noradrenergic pathways inversely regulate spinal neuronal activity35
Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy34
Caspase cleavage of gasdermin E causes neuronal pyroptosis in HIV-associated neurocognitive disorder34
Progression of clinical markers in prodromal Parkinson’s disease and dementia with Lewy bodies: a multicentre study34
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