OOIR: Observatory of International Research

Papers

(The TQCC of Brain & Development is 3. 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 2022-05-01 to 2026-05-01.)

Article	Citations
Potential of arterial spin labeling in elucidating the pathogenesis of the splenium of the corpus callosum and cerebellar dentate nucleus in encephalopathy	25
Interacting with AP1 complex mutated synergin gamma (SYNRG) reveals a novel coatopathy in the form of complicated hereditary spastic paraplegia	23
New Year’s greetings	22
Acknowledgments to Anonymous Reviewers in 2023	19
Differentiating early clinical features of Panayiotopoulos syndrome from acute encephalopathy	17
Neurological manifestations and clinical outcomes in pediatric Alexander disease: single-center cohort and identification of novel GFAP variants	15
Tendency and risk factors of acute pancreatitis in children with severe motor and intellectual disabilities: A single-center study	14
A case of spinal muscular atrophy type 0 treated with nusinersen without progression of early-onset scoliosis – possibility of preventing scoliosis with a rehabilitation program focusing on postural m	13
Current state of hemispherectomy and callosotomy for pediatric refractory epilepsy in Denmark	13
Electroencephalogram abnormalities in children presenting with language development delay	13
Intellectual disability and genotype-phenotype correlation between full-scale intelligence quotient and mutation characteristics in boys with dystrophinopathy	13
Associations between cerebrospinal fluid pressure levels, clinical features, and MRI abnormalities in pediatric idiopathic intracranial hypertension: A retrospective study	12
Surgery for intractable epilepsy after severe encephalopathy with reversible splenial lesion and new onset hippocampal lesion associated with parechovirus	11
Cover	11
Cover	10
Handgrip and finger flexion strength in children: A cross-sectional assessment of age-related normative data and application as a clinical functional marker in paediatric neuromuscular disorders	10
Thalamic aphasia associated with mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes: A case report	10
The first case of Al-Raqad syndrome in Japan is associated with a homozygous DCPS exonic variant resulting in aberrant splicing	9
Cover	9
Effects of foot intrinsic muscle dynamic stretching intervention on static balance, gait parameters and gross motor ability with hemiplegic cerebral palsy: a randomized controlled pilot study	9
Guillain-Barré syndrome in children – High occurrence of Miller Fisher syndrome in East Asian region	9
Evaluation of the neurofilament light chain as a biomarker in children with spinal muscular atrophy treated with nusinersen	9
Interaction with individuals with severe motor and intellectual disabilities and nurses' positive mental well-being	9
Hyperkalemic periodic paralysis associated with a novel missense variant located in the inner pore of Nav1.4	9
Reply to the letter regarding the article “the impact of intraventricular hemorrhage on brainstem auditory function in preterm babies”	9

Refractory status epilepticus with fever due to mumps vaccine-induced encephalitis caused secondary encephalopathy mimicking acute encephalopathy with biphasic seizures and late reduced diffusion	9
Video game exposure in children with epilepsy: EEG and clinical findings	9
Examination of brain morphology and perinatal background factors associated with characteristics of early infantile spontaneous movements	8
Cover	8
Cover	8
Clinical features and prognostic factors of group B Streptococcus Meningitis in infants	8
Intrauterine twin environment and genetic factors subliminally affecting general movements in preterm infants	8
Two-year efficacy of lacosamide as adjunctive therapy for generalized tonic-clonic seizures in patients with juvenile myoclonic epilepsy	8
Contents	8
Announcements	8
A novel splice site CUL3 variant in a patient with neurodevelopmental delay	7
Cover	7
Contents	7
Integrating optical and behavioral measures in fNIRS visual search studies	7
Cover	7
Glucose instability and outcomes of neonates with hypoxic ischemic encephalopathy undergoing therapeutic hypothermia	7
Finger movement functions remain in the ipsilesional hemisphere and compensation by the contralesional hemisphere might not be expected after hemispherotomy -pre- and post-hemispherotomy evaluations i	7
Contents	7
Contents	7
Clinical, biochemical and genetic characteristics and long-term follow-up of five patients with malonyl-CoA decarboxylase deficiency	7
Long-term efficacy of intrathecal cyclodextrin in patients with Niemann-Pick disease type C	7
Contents	7
Efficacy and safety of buccal midazolam for seizures outside the hospital: Real-world clinical experience	7
Japanese guidelines for treatment of pediatric status epilepticus – 2023	6
A retrospective study on post-operative recovery of daily living activity after total corpus callosotomy	6
Contents	6
Skeletal anomaly and opisthotonus in early-onset epileptic encephalopathy with KCNQ2 abnormality	6
Serum 25(OH)D and vitamin K1 levels in patients with severe motor and intellectual disability: A Japanese single-center experience	6
The most severe form of LMNA-associated congenital muscular dystrophy	6
Contents	6
Senescence markers in peripheral blood mononuclear cells in pediatric drug-resistant epilepsy	6
Prevalent MLC1 mutation causing autosomal recessive megalencephalic leukoencephalopathy in consanguineous Palestinian families	6
Cover	6
Validity and prognostic utility of clinical assessment scale for autoimmune encephalitis (CASE) score in children with autoimmune encephalitis	6
A novel pathogenic compound heterozygous variant in C12orf57 gene in a child with Temtamy syndrome presenting with overlapping phenotypic features of Kabuki-like syndrome	5
Developmental changes in prefrontal cortex activation in children with or without autism spectrum traits on near-infrared spectroscopy	5
An atypical case of macrocephaly and severe intellectual disability associated with a missense variant in the guanine nucleotide exchange factor-1 domain of TRIO	5
Transcutaneous auricular vagus nerve stimulation therapy in patients with cognitively preserved structural focal epilepsy: A case series report	5
An exploratory study to identify neonatal arterial ischemic stroke: A single-center study	5
Developmental and epileptic encephalopathy in a young Italian woman with a de novo missense variant in the CLCN4 gene: A case report	5
A female case of L1 syndrome that may have developed due to skewed X inactivation	5
Epidemiological study on pediatric-onset dystonia in Japan: A questionnaire-based survey	5
Clinical characteristics and radiological features of tubulinopathy: A single-center retrospective study in Japan	5
Longitudinal study for the early detection of autism in children with very preterm birth	5
Levetiracetam for pediatric migraine prophylaxis: A narrative review	5
Pediatric anti-neutral glycosphingolipid antibodies-positive encephalomyeloradiculoneuropathy presenting with prominent brain demyelination	5
A case of epilepsy with myoclonic atonic seizures caused by SLC6A1 gene mutation due to balanced chromosomal translocation	5
Integrating whole-genome sequencing and transcriptomic findings in the diagnosis and management of Coffin-Siris syndrome	5
Characteristics of ADHD subtypes in Japanese children and the association with obesity based on BMI-SD score	5
Reply to the “letter to the editor: ‘Prevalence and management of gastrointestinal complications of Duchenne muscular dystrophy: A retrospective cohort study’”	5

Regarding the impact of maternal dyslipidemia on infant neurodevelopment	5
Characterizing visual processing deficits in cerebral adrenoleukodystrophy	5
Reply to “Understanding cancer risk in severe motor and intellectual disabilities: The role of external influences”	5
Childhood epilepsy in Cameroon: Clinical patterns, predictive factors, and educational impact at a tertiary hospital	5
Association between left precuneus functional connectivity and early neurodevelopment in preterm infants	5
Effect of cannabidiol as a neuroprotective agent on neurodevelopmental impairment in rats with neonatal hypoxia	5
Effects of therapeutic instrumental music performance on upper limb motor function of children with cerebral palsy: A systematic review	5
Two differential cavities in syringomyelia of pediatric Chiari I malformation presenting with unilateral foot drop	5
Current care practices for patients with Duchenne muscular dystrophy in China	5
Editorial Board	5
Cover	5
Prediction and assessment of acute encephalopathy syndromes immediately after febrile status epilepticus	5
Endocrinological study of low-dose adrenocorticotropic hormone therapy without tapering in infantile epileptic spasms syndrome	5
Erratum regarding previously published articles	5
Reply to: “A case of spinal muscular atrophy type 0 treated with nusinersen without progression of early-onset scoliosis”	5
Questionnaire survey on sleep habits of 3-year-old children in Asahikawa City: Comparison between 2005 and 2020	4
Reply to “Levacetylleucine a game changer for Niemann-Pick disease type-C”	4
Clinical and genetic features of congenital myasthenic syndrome due to the muscle acetylcholine receptor genes	4
Comment on “Survival motor neuron protein is the optimal biomarker for evaluating the risdiplam treatment”	4
The first case of hemorrhagic shock and encephalopathy syndrome with fulminant hypercytokinemia associated with pediatric COVID-19	4
Spontaneous and reflex movements after diagnosis of clinical brain death: A lesson from acute encephalopathy	4
Efficacy, safety, and tolerability of adjunctive perampanel in the treatment of pediatric patients aged 4–18 years with epilepsy: A single-center, retrospective, observational real-world study	4
Development and future prospects of exon-skipping therapy for Duchenne muscular dystrophy	4
Natural history of timed rise from floor in young individuals with Duchenne muscular dystrophy: A single-center retrospective study	4
Evaluation of perinatal arterial ischemic stroke patients: Underlying etiologic factors and long-term prognosis	4
National study on pediatric acute encephalopathy in Japan (April 2020 to October 2023): Insights from the third study	4
Diagnostic advances in the etiology of cytotoxic lesions of the corpus callosum (CLOCC): epilepsy relationship and ADC radiomics perspective	4
Case report of a rare purine synthesis disorder due to 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase (AICAR) deficiency	4
Announcements	4
Alleviating stress and perceived stigma in parents after febrile seizure in their children	4
Contents	4
Verification of the ability of the new MRI classification system to predict neurodevelopmental outcome in very low-birth-weight infants	4
Treatable and preventable causes of inborn errors of metabolism: Cohort of neurotransmitter disorders in children from India	4
Contents	4
Etiology-specific diagnosis of cytotoxic lesions of the corpus callosum (CLOCC) in a single-center pediatric cohort: diagnostic challenges and outcome characteristics	4
Blood coagulation dynamics during adrenocorticotropic hormone therapy in pediatric patients with infantile spasms	4
MR vessel wall enhancement in a pediatric focal cerebral arteriopathy	4
Age-related variations in opening pressure in lumbar puncture: Implications for its interpretation in children	4
A patient presenting with chapeau de gendarme and three phase-ictal EEG pattern: Suggesting a focus in the interhemispheric fissure	3
The global research hotspots and future trends of infantile epileptic spasms syndrome: A bibliometric analysis of trends and themes	3
Use of lacosamide for focal epilepsy in a child with kidney failure undergoing peritoneal dialysis	3
Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1	3
A dilemma in pediatric migraine: Headache or school performance? – A comparison of topiramate and flunarizine	3
A pediatric case of autoimmune glial fibrillary acidic protein astrocytopathy with unique brain imaging patterns and increased cytokines/chemokines	3
Treating neurodegenerative disease: Nusinersen and other therapeutic strategies for improved motor function	3
The clinical spectrum associated with ATP1A2 variants in Chinese pediatric patients	3
A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies	3
Human herpesvirus 6 and non-human herpesvirus 6 limbic encephalitis in children with allogeneic stem cell transplantation: A case series	3
Cover	3
Early infantile spontaneous movement in very low birthweight infants is associated with sensory characteristics at the corrected age of 3 years	3
Editorial Board	3
Chaperone therapy: Stabilization and enhancement of endogenous and exogenous lysosomal enzymes	3
Febrile seizure in children with COVID-19 during the Omicron variant-predominant era: A single-center study	3
Reply to “Navigating the dilemma in pediatric migraine: Beyond a dichotomy toward personalized, long-term care”	3
Cover	3
Nusinersen induces detectable changes in compound motor action potential response in spinal muscular atrophy type 1 patients with severe impairment of motor function	3
Cover	3
Relationship between cerebrospinal fluid cytokines/chemokines and clinical impact of myelin oligodendrocyte glycoprotein antibody-associated disorders in children	3
Navigating the dilemma in pediatric migraine: Beyond a dichotomy toward personalized, long-term care	3
Repeated neonatal Needle-pricking stimulation alter neurodevelopment in adolescent rats	3
Reply to the letter “Regarding investigation of prognostic factors for HHV 6/7-associated acute encephalopathy”	3
A scoping review of functional near-infrared spectroscopy studies of reading development in children aged 6–12	3
Adrenoleukodystrophy: Current understanding of disease mechanisms, diagnosis, and therapeutic advances–a recent review	3
Contents	3
Evaluation of cerebrospinal fluid biomarkers in pediatric patients with spinal muscular atrophy	3
Looks can be deceiving: An appraisal of Sturge weber syndrome type III case series	3