Neuropediatrics

Article	Citations
A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two Siblings	34
Whole Genome Methylation Profiling to Enhance Diagnostic Yield in Neurodevelopmental Disorders	26
Ocular Myasthenia: It's Worth a Second Look	21
Minimally Invasive Epilepsy Surgery	17
Structural Changes in the Corticospinal Tract of the Contralesional Hemisphere following Perinatal Lesions	17
Bilateral Foramina Parietalia Permagna – A Calvarial Defect Caused by Haploinsufficiency of the Msh Homeobox 2 Gene: A Case Report and Current Literature Review	15
A German Translation and Cross-Cultural Comparison of a Mobility Questionnaire (MobQues47) for Ambulant Children and Adolescents with Cerebral Palsy	13
Intravitreal Enzyme Replacement Therapy Slows Retinopathy in Late Infantile Ceroid Lipofuscinosis Type 2	12
Efficacy of Givinostat by Age (6–7 and >7 Years): A Post Hoc Analysis of EPIDYS	12
Pathogenic Variants in Autophagy-Tethering Factor EPG5 Drive Neurodegeneration through Mitochondrial Dysfunction and Innate Immune Activation	11
Early Seizure Recurrence in Children Admitted for Nonfebrile Seizures in the Emergency Department: A Prospective Study	10
Mutations in EPG5 Are Associated with a Wide Spectrum of Neurodevelopmental and Neurodegenerative Disorders	9
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PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives	9
Risk Factors for Psychiatric Disorders in Pediatric Patients with Tuberous Sclerosis Complex	9
Neonatal Rhabdomyolysis: A Case Report and Review of the Literature	8
Long-Term Comparative Efficacy and Safety of Risdiplam versus Nusinersen in Children with Type 1 Spinal Muscular Atrophy (SMA)	8
Characterization of Neonatal Seizures in a Large Well-defined Multicenter Cohort of a Tertiary Neonatology Center in Germany	8
Examination of the Peripheral Nervous System in Children with Spinal Muscular Atrophy: A High-Resolution Ultrasound Study	7
Ketogenic Diet in Neonates with Drug-Resistant Epilepsy: Efficacy and Side Effects—A Single Center's Initial Experience	7
Benefits of Repetitive Neuromuscular Magnetic Stimulation in Pediatric Posttraumatic Headache	7
Efficacy of Antiseizure Medications in Wolf–Hirschhorn Syndrome	7
Association Between Rapid Progression, Early Mortality, and Imaging in Neonatal-Onset Alexander Disease	6
Subacute Sclerosing Panencephalitis: Clinical, Radiological, and EEG Features of a Forgotten Disease	6
Good Outcome of Resective Epilepsy Surgery in a 1-Year-Old Child with Drug-Resistant Focal Epilepsy with a Novel Pathogenic COL4A1 Mutation	6

Melatonin Treatment of Circadian Rhythm Sleep-Wake Disorder in Obese Children Affects the Brain-Derived Neurotrophic Factor Level	6
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Open-Label Extension Analysis Shows Potential Delay in Age at Loss of Ambulation in Patients with Duchenne Muscular Dystrophy Treated with Givinostat	6
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Impact of a Nurse Care Coordinator on Time to Treatment in a Pediatric Multiple Sclerosis Clinic, a Retrospective Study	5
Impairments of Balance and Sensory Integration in Children with Headache Disorders	5
Childhood Stroke as a Challenging Complication in Severe Systemic Mycosis	5
Increased Number of Functional Tics Seen in Danish Adolescents during the COVID-19 Pandemic	5
Novel, Rare, and Underdetected: Antineuronal Antibodies in Pediatric Autoimmune Movement Disorders	5
Quality of Life in Children and Adolescents with Neurofibromatosis Type 1: A Single-Center Observational Study	5
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Long-Term Follow-up of Children with Pre- and (Post) Pubertal MS	5
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Effect of Sole Height Adjustments for Leg Length Discrepancies on Gait Deviations and Asymmetries in Children with Unilateral Spastic Cerebral Palsy	5
Assessing the Quality of Life in Hydrocephalic Children: A Study from Tertiary Care Hospitals in Pakistan	5
Reply to Letter to the Editor: One Size Doesn't Fit All: Four Score in the Pediatric ICU	5
Repetitive head movements: an unusual subcortical myoclonus presentation	4
Adolescent-Onset Epilepsy: Clinical Features and Predictive Factors for First-Year Seizure Freedom	4
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Anti-NMDA Autoimmune Encephalitis Post-COVID-19 Vaccination in a Pediatric Patient: A Case Report	4
Weathering the Storm: Early Intervention for GAD65 Antibody-Mediated Encephalitis with Drug-Resistant Autoimmune Epilepsy	4
From Data to Decision: Development and Open Multi-Center Validation of an AI-Enabled Decision Support System for Pediatric Epilepsy Diagnosis and Treatment	4
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	4
Genetic Variants and Clinical Phenotyping in 39 Pediatric Patients with Neuropathic Pain	4
Nerve Ultrasound in Pediatric Polyneuropathies: A Systematic Review	4
Givinostat in DMD: Results of the EPIDYS Study with Particular Attention to NSAA	4
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Claude Syndrome in Childhood Associated with Probable Neuro-Behcet Disease	4
Intraventricular Application of Baclofen Using Navigated Frameless Stereotaxy: A Technical Note	4
Does Motor Function Differ According to the Site of Mutation in Duchenne Muscular Dystrophy?	4
Post-authorization Safety Study (PASS) of Pediatric Patients Initiating Selumetinib Treatment for Symptomatic Inoperable Plexiform Neurofibromas (PNs) Associated with Neurofibromatosis Type 1 (NF1)	3
Elevated TNF-α Levels and CD4 Cell Counts in the Blood of Children with Tuberous Sclerosis Complex (TSC)-Related Refractory Epilepsy	3
A Complex Structural Variation and a Nonsense Variant in trans Cause the VPS50-Related Disorder	3
Paramagnetic Rim Lesions in Pediatric-Onset Multiple Sclerosis at 1.5 Tesla: A Susceptibility-Weighted Imaging Study	3
Two Siblings Showing a Mild Phenotype of Joubert Syndrome with a Specific CEP290 Variant	3
Acute Unilateral Mydriasis in a Previously Healthy 10-Year-Old Girl: Differential Diagnoses	3
Feasibility of an Instrumented Gait Testing Protocol for Children after Mild Traumatic Brain Injury	3
Seizures and Movement Disorders in Patients with CLN2 Disease Treated with Cerliponase Alfa in the Real-World Setting	3
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Type 1 Interferon Activation in Mitochondrial Disease: A Possible “New” Pathomechanism	3
Advancing Precision Therapies in Neurogenetic Disorders and the Treatment of Medically Refractory Epilepsies	3
Homozygous Frameshift Mutation in the ATP1A2 Gene Leading to Severe Pseudo-TORCH Syndrome	3
Torticollis with Atlantoaxial Rotatory Subluxation in Children: A Clinical Review	3
Progressive Neurodegeneration in DYNC1H1-Related Neuromuscular Disorders	2
Modeling Developmental and Epileptic Encephalopathies in Drosophila melanogaster as a Rapid In Vivo Assay System for Antiseizure Medication Response and Neurodevelopment	2
Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis Mimicking Relapse after FLAIR Hyperintense Lesions in Anti-MOG-Antibody Associated Encephalitis with Seizures (FLAMES)	2
Regional White Matter Hypertrophy Follows Cerebral ABCD1 Gene Expression Pattern in Asymptomatic X-Linked Adrenoleukodystrophy	2
Colloid Cyst Causing Massive Headache Attacks	2
Exploring Molecular Pathways Underlying Epilepsy Development in Intellectual Disability	2
Inequitable Racial and Ethnic Representation in Duchenne Muscular Dystrophy Clinical Trials	2

Long-Term Outcome of Gene Therapy for MLD and Prospective Newborn Screening: The Tübingen Experience	2
Neonatal Medullary Venous Thrombosis and Hemorrhage from Protein C Deficiency	2
Population-Based Investigation of DMD Genotype and Neurodevelopmental Concerns in Duchenne Muscular Dystrophy	2
A Novel Digital Biomarker on the Impact of Glucose Fluctuations on Nerve Conduction Velocity in Pediatric T1D	2
NfL as a Biomarker in Monitoring Pediatric MS Patients	2
Quivering Chin Syndrome	2
Urgent and Emergent Neurosurgery in Children with Tumor-Related Intracranial Hypertension and Cerebral Herniation: Clinical Outcome and Prognostic Factor Analysis	2
Predictors Associated with Motor and Cognitive Impairment in Children with Corpus Callosum Malformation	2
Genetics and Inflammation: New Perspectives on Migraine in Childhood and Adolescence	2
Safety and Efficacy of Intravenous Onasemnogene Abeparvovec in Patients with Spinal Muscular Atrophy: Interim Findings from the Phase 3 SMART Study	2
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Inheritance of Primary Headache in Children and Adolescents—A Scoping Review	2
Delayed Neonatal Scalp Swelling: A Rare Case of Subaponeurotic Fluid Collection	2
Exploring Secondary Biotinidase Deficiency and Biotin Supplementation in PMM2-CDG	2
Tailored Alternative: Seizure Recurrence Following Personalized Pulsed Dexamethasone Therapy in IESS	2
Difficulties in Emotion Regulation and Psychiatric Symptoms in Adolescents Diagnosed with Migraine: A Case-Control Study	2
Roifman Syndrome Is a Rare but Important Differential Diagnosis in Patients Suspected to Have CDG Syndrome	2
Tuberomammillary Fusion and Moya-Moya Vasculopathy Associated with PHACE Syndrome	2
Children with Vision Impairment	2
Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes	2
The Weeke Score Is an Easy-to-Teach and Reliable System for Hypoxic–Ischemic Encephalopathy Brain Magnetic Resonance Imaging Scoring	2
Reflex and Spontaneous Movements in Pediatric Patients with Brain Death	2
Seroprevalence of MOG and AQP4 Antibodies and Outcomes in an Indian Cohort of Pediatric Acquired Demyelinating Syndromes	2
Excessive Laughter in RHOBTB2-Related Neurodevelopmental Disorder	2
Precision Medicine in Angelman Syndrome	2
Impact of Anti-MOG Antibody in Diagnosis of Autoimmune Diseases of the Central Nervous System in Children: A Case Series	2
Novel GALC Deletion and Paradoxical Optic Nerve Hypertrophy in Severe Infantile Krabbe Disease	2
Communal Poverty Is a Significant Risk Factor for Neonatal Seizures	2
Effect of Nusinersen on Respiratory and Bulbar Function in Children with Spinal Muscular Atrophy: Correspondence	2
Effects of GPi-DBS on Speech and Swallowing in Pediatric Patients with Dystonia	2
Eladocagene Exuparvovec Gene Therapy Increases Bayley-III Cognitive and Language Raw Scores in Patients with Aromatic ʟ-Amino Acid Decarboxylase Deficiency	2
Spectrum of Disease Severity in Canavan Leukodystrophy	2
Pulsatile Dexamethasone Therapy Reduces Epileptic Burden and Improves Sleep Physiology in Children with Genetic Drug-Resistant Epilepsy	1
Ongoing Experiences with Repetitive Neuromuscular Magnetic Stimulation in Children and Adolescents with Headache Disorders	1
Metabolic Neuropathies in Children and Adolescents with LCHAD/MTP Deficiency: Insights from In Vivo Magnetic Resonance Neurography	1
The Role of Calcitonin Gene-Related Peptide and Amylin in Pediatric Migraine	1
One Size Doesn't Fit All: Four Score in the Pediatric ICU	1
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EASEE4YOU: A European Multicenter Study of Focal Cortex Stimulation for Adolescents with Drug-Resistant Focal Epilepsy	1
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Psychomotor and Cognitive Outcome in Very Preterm Infants in Vorarlberg, Austria, 2007–2019	1
Hypomyelination of Early Myelinating Brain Structures	1
Pediatric Multiple Sclerosis—Experience of a Tertiary Care Center	1
Introducing a New Editor-in-Chief and Thanks to Reviewers and Authors	1
Pediatric Arteriovenous Malformations of the Central Nervous System: A Single-Center Analysis of a Complex Disease	1
Early and Aggressive Treatment May Modify Anti-Hu Associated Encephalitis Prognosis	1
STAC3-related myopathy: A Report of a Cohort of Seven Saudi Arabian Patients	1
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	1
SMARCA2-Related Nicolaides–Baraitser Syndrome	1
Empiric Antibiotic Therapy and Neurodevelopment Outcome of Very Low Birth Weight Infants	1
Expanding SNX14-Associated Movement Disorders in a Genotype–Phenotype Spectrum	1
Frequency and Spectrum of Psychiatric Symptoms in Children with NMDA-R Encephalitis	1
Epilepsy Surgery: Bridging the Gap with Minimally Invasive Techniques	1
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	1
Comparative Analysis of Supratentorial Intraventricular Tumors in Adults and Pediatrics in a Developing Country: Clinicopathological Features, Surgical Management, and Outcomes	1
MOG-Encephalitis is the Most Prevalent Autoimmune Encephalitis in Children: MERIN Study Data on Encephalitis	1
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Health-Related Quality of Life and Mental Health After Pediatric Mild Traumatic Brain Injury	1
Effects of Sodium Lactate Infusion in Two Girls with Glucose Transporter 1 Deficiency Syndrome	1
The Value of Epigenetic Signatures as Key to Diagnosis in Neurodevelopmental Disorders	1
Early-Onset Dystonia and Visual Impairment Preceding Epileptic Encephalopathy Associated with PIGA Gene Mutation	1
Addressing Skin Adverse Events during Mirdametinib Treatment in Patients with Neurofibromatosis Type 1-Associated Plexiform Neurofibromas: Guidance from Experts on the Management of MEK Inhibitor-Asso	1
Liquid Biopsy: Short-Cut to Identify Mosaic Causes of Hemihypertrophic Overgrowth	1
Spasms and not Myoclonus in Subacute Sclerosing Panencephalitis. A Case Report and Review of the Literature	1
Corrigendum: Neonatal Rhabdomyolysis: A Case Report and Review of the Literature	1
Redness in a Squinted Eye: Is that a Clue?	1
Divergent Presentation of GRIN2B Neurodevelopmental Disorder in Monozygotic Twins: Case Report with Unique Imaging Phenotypes	1
Del-Zota Treatment Is Associated with Near Normalization of CK Levels and Improvements in Key Functional Outcomes at 1 Year in Participants with DMD44	1
Sleep Macro- and Microstructure Is Altered in Children with Epilepsy	1
The Benefit of Genome Sequencing in Neurodevelopmental Disorders	1
Amplitude-Integrated Electroencephalogram in Premature Infants: A Prospective Cohort Study	1
Efficacy of Melatonin for Insomnia in Children with Autism Spectrum Disorder: A Meta-analysis	1
Evaluation of an Online Patient Education Program for Children and Young People with ME/CFS and their Parents within the BAYNET FOR MECFS Study	1
Adult Perspectives on the Long-term Impact of Neonatal Encephalopathy Due to Hypoxia-Ischemia	1
Multiparametric Investigation of Network-Reorganization Promoted by Repetitive Neuromuscular Magnetic Stimulation Applied to the Anterior Tibial Muscle	1
PDE10A Mutation as an Emerging Cause of Childhood-Onset Hyperkinetic Movement Disorders: A Review of All Published Cases	1
Anti-CD20 versus Dimethyl Fumarate as First-Line Treatment for Pediatric Multiple Sclerosis: A Retrospective Cohort Study	1
Konzept eines N of 1 Therapieprotokolls zur standardisierten Erfassung individueller Heilversuche bei Patienten mit genetischen Entwicklungsstörungen	1
Association between Cognitive Abilities before the Age of 3 Years and Those at Least 1 Year Later in Children with Developmental Delay	1
Comparative Efficacy and Safety of Stiripentol, Cannabidiol, and Fenfluramine as First-Line Add-On Therapies for the Treatment of Seizures in Dravet Syndrome: A Network Meta-Analysis Study	1

Biallelic Variants in OAS2 with Neurodevelopmental Disorders, Skeletal Dysplasia, and Immunodeficiency	1
Pediatric Autoimmune Encephalitis: A Nationwide Study in Latvia	1
Expanding the Spectrum of NUBPL-Related Leukodystrophy	1
Arterial Ischemic Stroke in Adolescents and Young Adults: Results of an European Cohort (GER-FR-NL)	1
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Adrenocorticotropic Hormone versus Prednisolone for Infantile Epileptic Spasms Syndrome: A Systematic Review and Economic Evaluation	1