OOIR: Observatory of International Research

Papers

(The TQCC of Neuropediatrics 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 2020-05-01 to 2024-05-01.)

Article	Citations
ADHD: Current Concepts and Treatments in Children and Adolescents	119
A Novel Hypomorphic CSF1R Gene Mutation in the Biallelic State Leading to Fatal Childhood Neurodegeneration	19
Whole-Exome Sequencing in NF1-Related West Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy	15
Recent Advances in the Diagnosis and Treatment of Neonatal Seizures	12
Longitudinally Extensive Transverse Myelitis (LETM) and Myopericarditis in a 7-Month-Old Child with SARs-CoV-2 Infection	10
Sandhoff Disease: Improvement of Gait by Acetyl-DL-Leucine: A Case Report	10
Treatment of Infantile Spasm Syndrome: Update from the Interdisciplinary Guideline Committee Coordinated by the German-Speaking Society of Neuropediatrics	9
Imaging in X-Linked Adrenoleukodystrophy	9
Next Generation Sequencing in Pediatric Epilepsy Using Customized Panels: Size Matters	8
Multicenter Experience with Nusinersen Application via an Intrathecal Port and Catheter System in Spinal Muscular Atrophy	8
Efficacy of Melatonin for Insomnia in Children with Autism Spectrum Disorder: A Meta-analysis	8
The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation	8
Visual Impairment and Functional Classification in Children with Cerebral Palsy	8
Improving Management of Infantile Spasms by Adopting Implementation Science	8
PPP2R5D-Related Neurodevelopmental Disorder or Developmental and Epileptic Encephalopathy?: A Novel Phenotypic Description and Review of Published Cases	8
Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy	7
Increased Number of Functional Tics Seen in Danish Adolescents during the COVID-19 Pandemic	7
Gross Motor Function in Children with Congenital Zika 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
Management of Neurological Emergencies in Children: An Updated Overview	7
Clinical Characteristics and Genotype–Phenotype Correlation in Children with KMT2E Gene-Related Neurodevelopmental Disorders: Report of Two New Cases and Review of Published Literature	7
Intrathecal Administration of Nusinersen in Pediatric SMA Patients with and without Spine Deformities: Experiences and Challenges over 3 Years in a Single Center	7
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
Apgar Score and Risk of Cerebral Palsy in Preterm Infants: A Population-Based Cohort Study	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

Progressive Leukodystrophy-Like Demyelinating Syndromes with MOG-Antibodies in Children: A Rare Under-Recognized Phenotype	6
Specific Cognitive Changes due to Hippocalcin Alterations? A Novel Familial Homozygous Hippocalcin Variant Associated with Inherited Dystonia and Altered Cognition	6
Thiamine Pyrophosphokinase Deficiency due to Mutations in the TPK1 Gene: A Rare, Treatable Neurodegenerative Disorder	6
Nonketotic Hyperglycinemia in Tunisia. Report upon a Series of 69 Patients	6
Postnatal Brain Growth Patterns in Pontocerebellar Hypoplasia	6
Clinical Features and Outcomes of Streptococcus pneumoniae Meningitis in Children: A Retrospective Analysis of 26 Cases in China	6
Hepatic Involvement in Aicardi-Goutières Syndrome	6
Neonatal Hypoxic–Ischemic Encephalopathy: Perspectives of Neuroprotective and Neuroregenerative Treatments	6
Atypical Presentation of Fulminating Subacute Sclerosing Panencephalitis: A Case Series	6
Three Individuals with PURA Syndrome in a Cohort of Patients with Neuromuscular Disease	6
Recurrent Ataxia and Dystonia with Anti-Neurochondrin Autoantibodies	5
Impact of Tourette Syndrome on Education	5
Quality of Life and Its Association with Level of Functioning in Young Children with Cerebral Palsy	5
Cytosolic Phosphoenolpyruvate Carboxykinase Deficiency: Cause of Hypoglycemia-Induced Seizure and Death	5
Early-Onset Vascular Leukoencephalopathy Caused by Bi-Allelic NOTCH3 Variants	5
Treatment of Plexiform Neurofibromas with MEK Inhibitors: First Results with a New Therapeutic Option	5
Headache in Children and Adolescents: The Association between Screen Time and Headache within a Clinical Headache Population	5
Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant	5
Neurodevelopmental Profile in Children Affected by Ocular Albinism	5
Severe Locked-In-Like Guillain–Barré's Syndrome: Dilemmas in Diagnosis and Treatment	5
Cardiac Myxoma as a Rare Cause of Pediatric Arterial Ischemic Stroke: Case Report and Literature Review	5
Asparagine Synthetase Deficiency with Intracranial Hemorrhage Can Mimic Molybdenum Cofactor Deficiency	5
Rate of Anti-NMDA Receptor Encephalitis in Ovarian Teratomas	5
Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant	4
Tonic Tics in Gilles de la Tourette Syndrome	4
A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia	4
Mechanical Thrombectomy for Acute Stroke in a 2-Month-Old Patient and Review of the Literature in Infancy	4
A Rare Presentation of Neurobrucellosis in a 6-Year-Old Pediatric Patient with Sagittal Sinus Thrombosis	4
Clinical and Genetic Aspects of Juvenile Onset Pompe Disease	4
Tolosa-Hunt Syndrome in Childhood and Adolescence: A Literature Review in the Last 10 Years	4
Two Missense CACNA1A Variants in a Single Family with Variable Neurobehavioral, Cerebellar, Epileptic, and Oculomotor Features	4
Lumbar Puncture Opening Pressure in Patients with Spinal Muscular Atrophy	4
Anti-GFAP Antibody-Associated Hypertrophic Pachymeningitis	4
Moyamoya Syndrome in an Infant with Aicardi–Goutières and Williams Syndromes: A Case Report	4
Clinical Outcome Data of Children Treated with Cannabis-Based Medicinal Products for Treatment Resistant Epilepsy—Analysis from the UK Medical Cannabis Registry	4
Benign Acute Childhood Myositis: Our Experience on Clinical Evaluation	4
Elective and Emergency Deep Brain Stimulation in Refractory Pediatric Monogenetic Movement Disorders Presenting with Dystonia: Current Practice Illustrated by Two Cases	4
Is Botox Right for Me: When to Assess the Efficacy of the Botox Injection for Chronic Migraine in Pediatric Population	4
Outbreak of Enterovirus Infection with Neurological Presentations in a Pediatric Population in Northern Spain: A Clinical Observational Study	4
Hydrocephalus Revisited: New Insights into Dynamics of Neurofluids on Macro- and Microscales	4
Paroxysmal Dyskinesias Revealing 3-Hydroxy-Isobutyryl-CoA Hydrolase (HIBCH) Deficiency	4
The Direct Costs of Dravet's Syndrome before and after Diagnosis Assessment	4
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
How to Detect Isolated PEX10-Related Cerebellar Ataxia?	3
Expanding Clinical Phenotype of TRAPPC12-Related Childhood Encephalopathy: Two Cases and Review of Literature	3
Percutaneous Endoscopic Gastrostomy Feeding in Children with Cerebral Palsy	3
Neuroimaging Spectrum of Severe Hypernatremia in Infants with Neurological Manifestations	3
Aicardi Syndrome: Key Fetal MRI Features and Prenatal Differential Diagnosis	3
Thiamine Treatment and Favorable Outcome in an Infant with Biallelic TPK1 Variants	3
The Impact of “Fear of Falling” on Physical Performance, Balance, and Ambulation in Duchenne Muscular Dystrophy	3

PredictMed: A Machine Learning Model for Identifying Risk Factors of Neuromuscular Hip Dysplasia: A Multicenter Descriptive Study	3
A Revisited Diagnosis of Collagen VI Related Muscular Dystrophy in a Patient with a Novel COL6A2 Variant and 21q22.3 Deletion	3
Effect of Long-Term Repeated Interval Rehabilitation on the Gross Motor Function Measure in Children with Cerebral Palsy	3
Clinical Conundrums When Integrating the QbTest into a Standard ADHD Assessment of Children and Young People	3
Arterial Ischemic Stroke—Peculiarities of Clinical Presentation and Risk Factors in Indian Children	3
Parents' Perspectives on Diagnosis and Decision-Making regarding Ventilator Support in Children with SMA Type 1	3
Make Bayley III Scores Comparable between United States and German Norms—Development of Conversion Equations	3
The outcome of 41 Late-Diagnosed Turkish GA-1 Patients: A Candidate for the Turkish NBS	3
Hyperkinetic Seizures with Ictal Fear as Localizing Ictal Signs in MRI-Negative Medial Frontal Lobe Epilepsy	3
Post-CMV Guillain-Barré Syndrome with Anti-GM2 Antibodies: Two Cases and a Review of the Literature	3
Neurodegeneration and Early Infantile Epilepsy Associated with ITPA Variants: A Case Series and Review of Literature	3
A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two Siblings	3
Progressive Clinical and Neuroradiological Findings in a Child with BCL11B Missense Mutation: Expanding the Phenotypic Spectrum of Related Disorder	3
Sleep Disorder: An Overlooked Manifestation of Glucose Transporter Type-1 Deficiency Syndrome	3
Neuropsychological Phenotypes of Pediatric Anti-Myelin Oligodendrocyte Glycoprotein Associated Disorders: A Case Series	3
Benign Convulsions with Mild Gastroenteritis—An Underestimated Phenomenon?	3
Risk Factors for Mortality among Newborns with Neonatal Seizures	3
Exposure and Response Prevention for Children and Adolescents with Tourette Syndrome Delivered via Web-Based Videoconference versus Face-to-Face Method	3
Incidental Pediatric High-Flow Nongalenic Giant Pial Arteriovenous Fistula	3