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 2020-11-01 to 2024-11-01.)

Article	Citations
Recent Advances in the Diagnosis and Treatment of Neonatal Seizures	15
Treatment of Infantile Spasm Syndrome: Update from the Interdisciplinary Guideline Committee Coordinated by the German-Speaking Society of Neuropediatrics	15
Imaging in X-Linked Adrenoleukodystrophy	11
Increased Number of Functional Tics Seen in Danish Adolescents during the COVID-19 Pandemic	11
Efficacy of Melatonin for Insomnia in Children with Autism Spectrum Disorder: A Meta-analysis	10
Longitudinally Extensive Transverse Myelitis (LETM) and Myopericarditis in a 7-Month-Old Child with SARs-CoV-2 Infection	10
Visual Impairment and Functional Classification in Children with Cerebral Palsy	10
Progressive Leukodystrophy-Like Demyelinating Syndromes with MOG-Antibodies in Children: A Rare Under-Recognized Phenotype	10
Neonatal Hypoxic–Ischemic Encephalopathy: Perspectives of Neuroprotective and Neuroregenerative Treatments	9
Intrathecal Administration of Nusinersen in Pediatric SMA Patients with and without Spine Deformities: Experiences and Challenges over 3 Years in a Single Center	9
Management of Neurological Emergencies in Children: An Updated Overview	9
Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants	9
Apgar Score and Risk of Cerebral Palsy in Preterm Infants: A Population-Based Cohort Study	8
PPP2R5D-Related Neurodevelopmental Disorder or Developmental and Epileptic Encephalopathy?: A Novel Phenotypic Description and Review of Published Cases	8
Vitamin B12 Deficiency and West Syndrome: An Uncommon but Preventable Cause of Neurological Disorder. Report on Three Cases, One of Them with Late Onset during Vitamin B12 Treatment	7
Specific Cognitive Changes due to Hippocalcin Alterations? A Novel Familial Homozygous Hippocalcin Variant Associated with Inherited Dystonia and Altered Cognition	7
Test–Retest Reliability and Construct Validity of the German Translation of the Gait Outcome Assessment List (GOAL) Questionnaire for Children with Ambulatory Cerebral Palsy	7
Headache in Children and Adolescents: The Association between Screen Time and Headache within a Clinical Headache Population	7
Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy	7
Hepatic Involvement in Aicardi-Goutières Syndrome	7
Possible Role of High-Dose Barbiturates and Early Administration of Parenteral Ketogenic Diet for Reducing Development of Chronic Epilepsy in Febrile Infection-Related Epilepsy Syndrome: A Case Report	7
Impact of Tourette Syndrome on Education	7
Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative Disorder	7
Quality of Life and Its Association with Level of Functioning in Young Children with Cerebral Palsy	6
Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency: Cause of Hypoglycemia-Induced Seizure and Death	6

Treatment of Plexiform Neurofibromas with MEK Inhibitors: First Results with a New Therapeutic Option	6
Elective and Emergency Deep Brain Stimulation in Refractory Pediatric Monogenetic Movement Disorders Presenting with Dystonia: Current Practice Illustrated by Two Cases	6
Is Botox Right for Me: When to Assess the Efficacy of the Botox Injection for Chronic Migraine in Pediatric Population	6
Rate of Anti-NMDA Receptor Encephalitis in Ovarian Teratomas	6
Clinical Features and Outcomes of Streptococcus pneumoniae Meningitis in Children: A Retrospective Analysis of 26 Cases in China	6
Asparagine Synthetase Deficiency with Intracranial Hemorrhage Can Mimic Molybdenum Cofactor Deficiency	6
A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia	6
Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) Deficiency	6
Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease	6
Sleep Disorder: An Overlooked Manifestation of Glucose Transporter Type-1 Deficiency Syndrome	5
Neurodevelopmental Profile in Children Affected by Ocular Albinism	5
Progressive Clinical and Neuroradiological Findings in a Child with BCL11B Missense Mutation: Expanding the Phenotypic Spectrum of Related Disorder	5
Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant	5
Recurrent Ataxia and Dystonia with Anti-Neurochondrin Autoantibodies	5
Moyamoya Syndrome in an Infant with Aicardi–Goutières and Williams Syndromes: A Case Report	5
Clinical Outcome Data of Children Treated with Cannabis-Based Medicinal Products for Treatment Resistant Epilepsy—Analysis from the UK Medical Cannabis Registry	5
Mechanical Thrombectomy for Acute Stroke in a 2-Month-Old Patient and Review of the Literature in Infancy	4
Hydrocephalus Revisited: New Insights into Dynamics of Neurofluids on Macro- and Microscales	4
Melatonin Treatment of Circadian Rhythm Sleep-Wake Disorder in Obese Children Affects the Brain-Derived Neurotrophic Factor Level	4
TSC1 as a Novel Gene for Sleep-Related Hypermotor Epilepsy: A Child with a Mild Phenotype of Tuberous Sclerosis	4
Two Missense CACNA1A Variants in a Single Family with Variable Neurobehavioral, Cerebellar, Epileptic, and Oculomotor Features	4
Outcome Analysis of Severe Hyperbilirubinemia in Neonates Undergoing Exchange Transfusion	4
Spectrum, Evolution, and Clinical Relationship of Magnetic Resonance Imaging in 31 Children with Febrile Infection-Related Epilepsy Syndrome	4
Favorable Response to “Memantine” in a Child with GRIN2B Epileptic Encephalopathy	4
Outbreak of Enterovirus Infection with Neurological Presentations in a Pediatric Population in Northern Spain: A Clinical Observational Study	4
Post-CMV Guillain-Barré Syndrome with Anti-GM2 Antibodies: Two Cases and a Review of the Literature	4
Detection of Global Brain Injury Using Point-of-Care Neonatal MRI Scanner	4
Percutaneous Endoscopic Gastrostomy Feeding in Children with Cerebral Palsy	4
Neuropsychological Phenotypes of Pediatric Anti-Myelin Oligodendrocyte Glycoprotein Associated Disorders: A Case Series	4
Differences in Tic Severity Among Adolescent Girls and Boys with Tourette Syndrome During the Pandemic	4
Exposure and Response Prevention for Children and Adolescents with Tourette Syndrome Delivered via Web-Based Videoconference versus Face-to-Face Method	4
Make Bayley III Scores Comparable between United States and German Norms—Development of Conversion Equations	4
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease	4
Benign Acute Childhood Myositis: Our Experience on Clinical Evaluation	4
Lumbar Puncture Opening Pressure in Patients with Spinal Muscular Atrophy	4
Anti-GFAP Antibody-Associated Hypertrophic Pachymeningitis	4
The Impact of “Fear of Falling” on Physical Performance, Balance, and Ambulation in Duchenne Muscular Dystrophy	3
Neurodegeneration and Early Infantile Epilepsy Associated with ITPA Variants: A Case Series and Review of Literature	3
Incidental Pediatric High-Flow Nongalenic Giant Pial Arteriovenous Fistula	3
Parents' Perspectives on Diagnosis and Decision-Making regarding Ventilator Support in Children with SMA Type 1	3
PredictMed: A Machine Learning Model for Identifying Risk Factors of Neuromuscular Hip Dysplasia: A Multicenter Descriptive Study	3
The Effect of Nusinersen Therapy on Laboratory Parameters of Patients with Spinal Muscular Atrophy	3
Efficacy, Retention Rate, and Influencing Factors of Ketogenic Diet Therapy in Children with Refractory Epilepsy: A Retrospective Study	3
A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two Siblings	3
Tonic Tics in Gilles de la Tourette Syndrome	3
Clinical Significance of Diffusion Tensor Imaging in Metachromatic Leukodystrophy	3
Treatment of Mitochondrial Phenylalanyl-tRNa-Synthetase Deficiency (FARS2) with Oral Phenylalanine	3
Atypical Hemifacial Spasm and Myoclonus Related to AIFM1 Variant	3
The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS	3
Clinico-Radiological Correlation in 26 Egyptian Children with Glutaric Acidemia Type 1	3

Mapping the Current Research on Mindfulness Interventions for Individuals with Cerebral Palsy: A Scoping Review	3
Clinical Conundrums When Integrating the QbTest into a Standard ADHD Assessment of Children and Young People	3
How to Detect Isolated PEX10-Related Cerebellar Ataxia?	3
Arterial Ischemic Stroke—Peculiarities of Clinical Presentation and Risk Factors in Indian Children	3
Neuroimaging Spectrum of Severe Hypernatremia in Infants with Neurological Manifestations	3
Epilepsy in Nicolaides–Baraitser Syndrome: Review of Literature and Report of 25 Patients Focusing on Treatment Aspects	3
Childhood Stroke: Long-Term Outcomes and Health-Related Quality of Life with a Special Focus on the Development of Epilepsy	3
The Utility of Early Brain MRI for Patients with Neurofibromatosis Type 1 and Optic Pathway Glioma: A Long-Term Follow-Up in a Tertiary Referral Hospital	3
Nicotinamide Riboside for Ataxia Telangiectasia: A Report of an Early Treated Individual	3
Ketogenic Diet for KARS-Related Mitochondrial Dysfunction and Progressive Leukodystrophy	3
Characterization of Neuropsychological Outcomes in a Cohort of Pediatric Patients with Moyamoya Arteriopathy	2
Long-Term Visual and Neurodevelopmental Outcomes in Two Children with Congenital Nystagmus Secondary to Methadone Exposure In utero	2
A Case of ECHS1 Deficiency with Severe Encephalopathy and Status Epilepticus after a Propofol Sedation: Case Report	2
Effects of Sodium Lactate Infusion in Two Girls with Glucose Transporter 1 Deficiency Syndrome	2
Obstructive Hydrocephalus Presenting with Bobble-Head Doll Syndrome	2
A Novel Homozygous PDE 10A Variant Leading to Infantile-Onset Hyperkinesia	2
Early-Onset Dystonia and Visual Impairment Preceding Epileptic Encephalopathy Associated with PIGA Gene Mutation	2
Yield of Brain Magnetic Resonance Imaging in Epilepsy Diagnosis from 1998 to 2020: A Large Retrospective Cohort Study	2
Claude Syndrome in Childhood Associated with Probable Neuro-Behcet Disease	2
Cerebral Toxocariasis as a Cause of Epilepsy: A Pediatric Case	2
Clinical Findings on Chromosome 1 Copy Number Variations	2
Exposure and Response Prevention: Evaluation of Tic Severity Over Time for Children and Adolescents with Tourette Syndrome and Chronic Tic Disorders	2
“Leukodystrophy-Like” Phenotype in Anti-MOG Antibody-Associated Disorders	2
Use of Sodium Channel Blockers in the Thr226Met Pathologic Variant of SCN1A: A Case Report	2
Autoimmune Encephalitis with Autoantibodies to NMDAR1 following Herpes Encephalitis in Children and Adolescents	2
Kidney Stones in Epileptic Children Receiving Ketogenic Diet: Frequency and Risk Factors	2
Acute Corticosteroid Responsive Meningoencephalitis with Cerebral Vasculitis after COVID-19 Infection in a Thirteen-Year-Old	2
Recurrent Isolated Sixth Nerve Palsy in Childhood—Review on a Rare Phenomenon	2
Alternating Hemiplegia of Childhood in a Child Harboring a Novel TBC1D24 Mutation: Case Report and Literature Review	2
Pediatric Multiple Sclerosis—Experience of a Tertiary Care Center	2
ACOX1 Gain-of-Function Variant in Two German Pediatric Patients, in One Case Mimicking Autoimmune Inflammatory Disease	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
Extremely Preterm Birth and Its Consequences—The ELGAN Study	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
Validity and Reliability of the German Version of the CP QOL-Child and CP QOL-Teen Questionnaire	2
Successful Rituximab Therapy for Pediatric Antiphospholipid-Related Chorea: A Case Report and Review of the Literature	2
Haploinsufficiency of PRRT2 Leading to Familial Hemiplegic Migraine in Chromosome 16p11.2 Deletion Syndrome	2
Cranial Ultrasound Is an Important Tool in the Recognition of Life-Threatening Infratentorial Hemorrhage in Newborns	2
Another Piece of the Puzzle of Anomalous Connectivity in Joubert's Syndrome	2
Decreased Cognitive Function in Danish Children with Epilepsy	2
High Incidence of Hippocampal Abnormalities in Pediatric Patients with Congenital Cytomegalovirus Infection	2
Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families	2
The Incidence of Intraventricular Hemorrhage in Low-Birth-Weight Infants: Assessment by Magnetic Resonance Imaging	2
Cerebrospinal Fluid Concentrations of Neurotransmitters in a Greek Pediatric Reference Population	2