OOIR: Observatory of International Research

Papers

(The TQCC of Neuropediatrics is 2. 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 2021-11-01 to 2025-11-01.)

Article	Citations
The Expected Efficacy of Sensory Afferent Electrostimulation on Hand Use Asymmetry in Children with Hemiparesis: An Accelerometer-Based Everyday Life Assessment	30
Menkes Disease: Clinical Presentation and Imaging Characteristics	19
Intravitreal Enzyme Replacement Therapy Slows Retinopathy in Late Infantile Ceroid Lipofuscinosis Type 2	17
Minimally Invasive Epilepsy Surgery	15
A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two Siblings	15
Benign Acute Childhood Myositis: Our Experience on Clinical Evaluation	14
Bilateral Foramina Parietalia Permagna – A Calvarial Defect Caused by Haploinsufficiency of the Msh Homeobox 2 Gene: A Case Report and Current Literature Review	14
Hypercapnia: An Added Culprit in Gray Matter Injury in Preterm Neonates	12
Early Seizure Recurrence in Children Admitted for Nonfebrile Seizures in the Emergency Department: A Prospective Study	10
Treatment of Plexiform Neurofibromas with MEK Inhibitors: First Results with a New Therapeutic Option	10
Melatonin Treatment of Circadian Rhythm Sleep-Wake Disorder in Obese Children Affects the Brain-Derived Neurotrophic Factor Level	9
Risk Factors for Psychiatric Disorders in Pediatric Patients with Tuberous Sclerosis Complex	9
PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives	8
Efficacy of Antiseizure Medications in Wolf–Hirschhorn Syndrome	8
Neonatal Rhabdomyolysis: A Case Report and Review of the Literature	8
Intracranial Sleep Spindles and High-Frequency Oscillations in Children with Focal Epilepsy and Developmental Delay	8
MOG Antibody Disease Presenting as Multiphasic Disseminated Encephalomyelitis	8
	8
Impact of a Nurse Care Coordinator on Time to Treatment in a Pediatric Multiple Sclerosis Clinic, a Retrospective Study	7
	7
Characterization of Neonatal Seizures in a Large Well-defined Multicenter Cohort of a Tertiary Neonatology Center in Germany	7
	7
Good Outcome of Resective Epilepsy Surgery in a 1-Year-Old Child with Drug-Resistant Focal Epilepsy with a Novel Pathogenic COL4A1 Mutation	7
Favorable Response to “Memantine” in a Child with GRIN2B Epileptic Encephalopathy	7
	7

Ketogenic Diet in Neonates with Drug-Resistant Epilepsy: Efficacy and Side Effects—A Single Center's Initial Experience	7
Assessing the Quality of Life in Hydrocephalic Children: A Study from Tertiary Care Hospitals in Pakistan	6
	6
Adolescent-Onset Epilepsy: Clinical Features and Predictive Factors for First-Year Seizure Freedom	6
Quality of Life in Children and Adolescents with Neurofibromatosis Type 1: A Single-Center Observational Study	6
	6
Increased Number of Functional Tics Seen in Danish Adolescents during the COVID-19 Pandemic	6
A Novel PEX13 Variant Causes Zellweger Spectrum Disorder with Mild/Intermediate Phenotype and Cystic Leukoencephalopathy	6
Recurrent Blistering Skin Lesions and Reversible Monocular Abducens Paralysis in a Patient with CD59 Deficiency	6
Claude Syndrome in Childhood Associated with Probable Neuro-Behcet Disease	5
Anti-NMDA Autoimmune Encephalitis Post-COVID-19 Vaccination in a Pediatric Patient: A Case Report	5
Genetic Variants and Clinical Phenotyping in 39 Pediatric Patients with Neuropathic Pain	5
Nerve ultrasound in pediatric polyneuropathies: a systematic review	5
Potentially Life-Threatening Interaction between Opioids and Intrathecal Baclofen in Individuals with a Childhood-Onset Neurological Disorder: A Case Series and Review of the Literature	5
	5
Intraventricular Application of Baclofen Using Navigated Frameless Stereotaxy: A Technical Note	5
Reflex and Spontaneous Movements in Pediatric Patients with Brain Death	4
Seroprevalence of MOG and AQP4 Antibodies and Outcomes in an Indian Cohort of Pediatric Acquired Demyelinating Syndromes	4
What Goals and Needs do Adolescents and Young Adults Identify for Rehabilitation After Traumatic Brain Injury? A Quantitative Online Survey	4
Does Motor Function Differ According to the Site of Mutation in Duchenne Muscular Dystrophy?	4
Case Report (+Video): Glycine Receptor Antibody-Associated Autoimmune Encephalitis in a 16-Year-Old Male	4
Inequitable Racial and Ethnic Representation in Duchenne Muscular Dystrophy Clinical Trials	4
Colloid Cyst Causing Massive Headache Attacks	4
A Child Presenting with a Glasgow Coma Scale Score of 13: Mild or Moderate Traumatic Brain Injury? A Narrative Review	4
	4
	4
Somatic KRASG12V-Variant as a Driver for Localized Hypertrophic Neuropathy Mimicking Plexiform Neurofibroma	4
Precision Medicine in Angelman Syndrome	4
Predictors Associated with Motor and Cognitive Impairment in Children with Corpus Callosum Malformation	4
From Theory to Action: Raising Awareness for Brain Health Through the #BrainHealthChallenge2025	4
Torticollis with Atlantoaxial Rotatory Subluxation in Children: A Clinical Review	4
Advancing Precision Therapies in Neurogenetic Disorders and the Treatment of Medically Refractory Epilepsies	4
Two Siblings Showing a Mild Phenotype of Joubert Syndrome with a Specific CEP290 Variant	4
Genetics and Inflammation: New Perspectives on Migraine in Childhood and Adolescence	3
Quivering Chin Syndrome	3
Myopathies in Early Infancy: An Overview and a Case of Early Onset Anti-NXP2-Positive Juvenile Dermatomyositis	3
Neonatal Medullary Venous Thrombosis and Hemorrhage from Protein C Deficiency	3
Effect of Nusinersen on Respiratory and Bulbar Function in Children with Spinal Muscular Atrophy: Correspondence	3
Empiric Antibiotic Therapy and Neurodevelopment Outcome of Very Low Birth Weight Infants	3
“Warm-Up”-Like Phenomen in Andersen–Tawil-Syndrome: A Case Report and Comparative Analysis to Myotonica Congenita	3
Tuberomammillary Fusion and Moya-Moya Vasculopathy Associated with PHACE Syndrome	3
Delayed Neonatal Scalp Swelling: A Rare Case of Subaponeurotic Fluid Collection	3
Exploring Secondary Biotinidase Deficiency and Biotin Supplementation in PMM2-CDG	3
Impact of Anti-MOG Antibody in Diagnosis of Autoimmune Diseases of the Central Nervous System in Children: A Case Series	3
Difficulties in Emotion Regulation and Psychiatric Symptoms in Adolescents Diagnosed with Migraine: A Case-Control Study	3
Children with Vision Impairment	3
Test–Retest Reliability and Construct Validity of the German Translation of the Gait Outcome Assessment List (GOAL) Questionnaire for Children with Ambulatory Cerebral Palsy	3
Understanding Astrocyte Reactivity in Perinatal White Matter Injury and Its Role in Disease Pathophysiology	3
Communal Poverty Is a Significant Risk Factor for Neonatal Seizures	3
Inheritance of Primary Headache in Children and Adolescents—A Scoping Review	3

Pediatric Autoimmune Encephalitis: A Nationwide Study in Latvia	2
The Role of the Three-Dimensional Edge-Enhancing Gradient Echo Sequence at 3T MRI in the Detection of Focal Cortical Dysplasia: A Technical Case Report and Literature Review	2
A Case Report of an Infant with De Barsy Syndrome with Intractable Seizures and Severe Gastro-Esophageal Reflux	2
Epg5 Links Proteotoxic Stress Due to Defective Autophagic Clearance and Epileptogenesis in Drosophila and Vici Syndrome Patients	2
	2
Psychomotor and Cognitive Outcome in Very Preterm Infants in Vorarlberg, Austria, 2007–2019	2
MOG-Encephalitis is the Most Prevalent Autoimmune Encephalitis in Children: MERIN Study Data on Encephalitis	2
Atypical Hemifacial Spasm and Myoclonus Related to AIFM1 Variant	2
Adrenocorticotropic Hormone versus Prednisolone for Infantile Epileptic Spasms Syndrome: A Systematic Review and Economic Evaluation	2
	2
EEG Changes Prior to Onset of Epilepsy: A Potential Early Biomarker to Monitor Disease Progression in CLN3 Disease	2
Early-Onset Dystonia and Visual Impairment Preceding Epileptic Encephalopathy Associated with PIGA Gene Mutation	2
A Contactless Motion Tracking Pipeline to Quantify Upper Limb Movements of Children with Spastic Hemiparesis	2
Epilepsy and Sleep in the ATR-X Syndrome	2
Pediatric Multiple Sclerosis—Experience of a Tertiary Care Center	2
Efficacy Outcomes from a Phase 3, Randomised, Double-Blind, Placebo-Controlled Study of Fremanezumab for the Preventive Treatment of Episodic Migraine in Children and Adolescents	2
Efficacy and Safety of Trofinetide for the Treatment of Rett Syndrome: Results from the Pivotal Phase 3 LAVENDER Study	2
Expanding the Spectrum of NUBPL-Related Leukodystrophy	2
Efficacy of Melatonin for Insomnia in Children with Autism Spectrum Disorder: A Meta-analysis	2
Corrigendum: Neonatal Rhabdomyolysis: A Case Report and Review of the Literature	2
Introducing a New Editor-in-Chief and Thanks to Reviewers and Authors	2
Association between Cognitive Abilities before the Age of 3 Years and Those at Least 1 Year Later in Children with Developmental Delay	2
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease	2
How Postural Patterns Change After a Concussion: A Spectral Analysis Approach to Postural Control in Pediatric Patients Throughout Their Recovery from Mild Traumatic Brain Injury	2
STAC3-related myopathy: A Report of a Cohort of Seven Saudi Arabian Patients	2
Aphasia and a Dual-Stream Language Model in a 4-Year-Old Female with Landau–Kleffner Syndrome	2
Spasms and not Myoclonus in Subacute Sclerosing Panencephalitis. A Case Report and Review of the Literature	2
Neurodegeneration and Early Infantile Epilepsy Associated with ITPA Variants: A Case Series and Review of Literature	2
Redness in a Squinted Eye: Is that a Clue?	2
A Rare Complication on the Spot: Tumor-Associated Hemorrhages in Pediatric LGG	2
Unusual Magnetic Resonance Imaging Findings in 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency	2
Early and Aggressive Treatment May Modify Anti-Hu Associated Encephalitis Prognosis	2
Case Report: Deficiency of Adenosine Deaminase 2 (DADA2) as a Cause of Brainstem Stroke in a 3-Year-Old Girl and the Importance of Early Fast-Track Genetic Diagnostics to Influence Therapy	2
Divergent Presentation of GRIN2B Neurodevelopmental Disorder in Monozygotic Twins: Case Report with Unique Imaging Phenotypes	2
PDE10A Mutation as an Emerging Cause of Childhood-Onset Hyperkinetic Movement Disorders: A Review of All Published Cases	2
Fluctuating Hyperkinesia and Epileptic Seizures in a Child: Syndrome Spectrum or Two Entities?: An Unsolved Case of an Encephalopathy	2
Palliative GPi-DBS for Severe Dystonia in SCN2A-Related Developmental and Epileptic Encephalopathy	2