Neuropediatrics

Article	Citations
Whole Genome Methylation Profiling to Enhance Diagnostic Yield in Neurodevelopmental Disorders	36
Ocular Myasthenia: It's Worth a Second Look	27
Structural Changes in the Corticospinal Tract of the Contralesional Hemisphere following Perinatal Lesions	21
Minimally Invasive Epilepsy Surgery	18
Bilateral Foramina Parietalia Permagna – A Calvarial Defect Caused by Haploinsufficiency of the Msh Homeobox 2 Gene: A Case Report and Current Literature Review	17
A German Translation and Cross-Cultural Comparison of a Mobility Questionnaire (MobQues47) for Ambulant Children and Adolescents with Cerebral Palsy	16
Intravitreal Enzyme Replacement Therapy Slows Retinopathy in Late Infantile Ceroid Lipofuscinosis Type 2	13
Early Seizure Recurrence in Children Admitted for Nonfebrile Seizures in the Emergency Department: A Prospective Study	12
A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two Siblings	12
Risk Factors for Psychiatric Disorders in Pediatric Patients with Tuberous Sclerosis Complex	11
	10
PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives	9
Mutations in EPG5 Are Associated with a Wide Spectrum of Neurodevelopmental and Neurodegenerative Disorders	9
Characterization of Neonatal Seizures in a Large Well-defined Multicenter Cohort of a Tertiary Neonatology Center in Germany	9
Neonatal Rhabdomyolysis: A Case Report and Review of the Literature	9
Long-Term Comparative Efficacy and Safety of Risdiplam versus Nusinersen in Children with Type 1 Spinal Muscular Atrophy (SMA)	8
Examination of the Peripheral Nervous System in Children with Spinal Muscular Atrophy: A High-Resolution Ultrasound Study	8
Benefits of Repetitive Neuromuscular Magnetic Stimulation in Pediatric Posttraumatic Headache	8
Efficacy of Antiseizure Medications in Wolf–Hirschhorn Syndrome	7
Unmasking Complex Chromosomal Rearrangement Impacting CHD2 by Genome Sequencing and Optical Genome Mapping in Developmental and Epileptic Encephalopathy—DEE94	7
Melatonin Treatment of Circadian Rhythm Sleep-Wake Disorder in Obese Children Affects the Brain-Derived Neurotrophic Factor Level	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
Assessing the Quality of Life in Hydrocephalic Children: A Study from Tertiary Care Hospitals in Pakistan	6
Effect of Sole Height Adjustments for Leg Length Discrepancies on Gait Deviations and Asymmetries in Children with Unilateral Spastic Cerebral Palsy	6
Ketogenic Diet in Neonates with Drug-Resistant Epilepsy: Efficacy and Side Effects—A Single Center's Initial Experience	6

	6
Long-Term Follow-up of Children with Pre- and (Post) Pubertal MS	6
	6
	6
Association Between Rapid Progression, Early Mortality, and Imaging in Neonatal-Onset Alexander Disease	6
Childhood Stroke as a Challenging Complication in Severe Systemic Mycosis	6
Novel, Rare, and Underdetected: Antineuronal Antibodies in Pediatric Autoimmune Movement Disorders	6
Impairments of Balance and Sensory Integration in Children with Headache Disorders	5
Impact of a Nurse Care Coordinator on Time to Treatment in a Pediatric Multiple Sclerosis Clinic, a Retrospective Study	5
	5
Repetitive Head Movements: An Unusual Subcortical Myoclonus Presentation	5
Quality of Life in Children and Adolescents with Neurofibromatosis Type 1: A Single-Center Observational Study	5
Increased Number of Functional Tics Seen in Danish Adolescents during the COVID-19 Pandemic	5
Adolescent-Onset Epilepsy: Clinical Features and Predictive Factors for First-Year Seizure Freedom	5
	5
Reply to Letter to the Editor: One Size Doesn't Fit All: Four Score in the Pediatric ICU	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
Intraventricular Application of Baclofen Using Navigated Frameless Stereotaxy: A Technical Note	4
Claude Syndrome in Childhood Associated with Probable Neuro-Behcet Disease	4
A Complex Structural Variation and a Nonsense Variant in trans Cause the VPS50-Related Disorder	4
Genetic Variants and Clinical Phenotyping in 39 Pediatric Patients with Neuropathic Pain	4
Anti-NMDA Autoimmune Encephalitis Post-COVID-19 Vaccination in a Pediatric Patient: A Case Report	4
Homozygous Frameshift Mutation in the ATP1A2 Gene Leading to Severe Pseudo-TORCH Syndrome	4
Seizures and Movement Disorders in Patients with CLN2 Disease Treated with Cerliponase Alfa in the Real-World Setting	4
	4
Weathering the Storm: Early Intervention for GAD65 Antibody-Mediated Encephalitis with Drug-Resistant Autoimmune Epilepsy	4
Feasibility of an Instrumented Gait Testing Protocol for Children after Mild Traumatic Brain Injury	4
Givinostat in DMD: Results of the EPIDYS Study with Particular Attention to NSAA	4
Advancing Precision Therapies in Neurogenetic Disorders and the Treatment of Medically Refractory Epilepsies	3
Colloid Cyst Causing Massive Headache Attacks	3
Precision Medicine in Angelman Syndrome	3
Elevated TNF-α Levels and CD4 Cell Counts in the Blood of Children with Tuberous Sclerosis Complex (TSC)-Related Refractory Epilepsy	3
Torticollis with Atlantoaxial Rotatory Subluxation in Children: A Clinical Review	3
Inequitable Racial and Ethnic Representation in Duchenne Muscular Dystrophy Clinical Trials	3
Post-authorization Safety Study (PASS) of Pediatric Patients Initiating Selumetinib Treatment for Symptomatic Inoperable Plexiform Neurofibromas (PNs) Associated with Neurofibromatosis Type 1 (NF1)	3
	3
Does Motor Function Differ According to the Site of Mutation in Duchenne Muscular Dystrophy?	3
	3
Type 1 Interferon Activation in Mitochondrial Disease: A Possible “New” Pathomechanism	3
Acute Unilateral Mydriasis in a Previously Healthy 10-Year-Old Girl: Differential Diagnoses	3
Reflex and Spontaneous Movements in Pediatric Patients with Brain Death	3
Nerve Ultrasound in Pediatric Polyneuropathies: A Systematic Review	3
Genetics and Inflammation: New Perspectives on Migraine in Childhood and Adolescence	2
Modeling Developmental and Epileptic Encephalopathies in Drosophila melanogaster as a Rapid In Vivo Assay System for Antiseizure Medication Response and Neurodevelopment	2
Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes	2
Empiric Antibiotic Therapy and Neurodevelopment Outcome of Very Low Birth Weight Infants	2
Safety and Efficacy of Intravenous Onasemnogene Abeparvovec in Patients with Spinal Muscular Atrophy: Interim Findings from the Phase 3 SMART Study	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
Excessive Laughter in RHOBTB2-Related Neurodevelopmental Disorder	2

Inheritance of Primary Headache in Children and Adolescents—A Scoping Review	2
Adrenocorticotropic Hormone versus Prednisolone for Infantile Epileptic Spasms Syndrome: A Systematic Review and Economic Evaluation	2
Tuberomammillary Fusion and Moya-Moya Vasculopathy Associated with PHACE Syndrome	2
Neonatal Medullary Venous Thrombosis and Hemorrhage from Protein C Deficiency	2
Eladocagene Exuparvovec Gene Therapy Increases Bayley-III Cognitive and Language Raw Scores in Patients with Aromatic ʟ-Amino Acid Decarboxylase Deficiency	2
Delayed Neonatal Scalp Swelling: A Rare Case of Subaponeurotic Fluid Collection	2
Predictors Associated with Motor and Cognitive Impairment in Children with Corpus Callosum Malformation	2
Children with Vision Impairment	2
Spectrum of Disease Severity in Canavan Leukodystrophy	2
Difficulties in Emotion Regulation and Psychiatric Symptoms in Adolescents Diagnosed with Migraine: A Case-Control Study	2
Exploring Secondary Biotinidase Deficiency and Biotin Supplementation in PMM2-CDG	2
Expanding the Spectrum of NUBPL-Related Leukodystrophy	2
Population-Based Investigation of DMD Genotype and Neurodevelopmental Concerns in Duchenne Muscular Dystrophy	2
Divergent Presentation of GRIN2B Neurodevelopmental Disorder in Monozygotic Twins: Case Report with Unique Imaging Phenotypes	2
Impact of Anti-MOG Antibody in Diagnosis of Autoimmune Diseases of the Central Nervous System in Children: A Case Series	2
Effect of Nusinersen on Respiratory and Bulbar Function in Children with Spinal Muscular Atrophy: Correspondence	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
Novel GALC Deletion and Paradoxical Optic Nerve Hypertrophy in Severe Infantile Krabbe Disease	2
The Weeke Score Is an Easy-to-Teach and Reliable System for Hypoxic–Ischemic Encephalopathy Brain Magnetic Resonance Imaging Scoring	2
Regional White Matter Hypertrophy Follows Cerebral ABCD1 Gene Expression Pattern in Asymptomatic X-Linked Adrenoleukodystrophy	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
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
	2
Exploring Molecular Pathways Underlying Epilepsy Development in Intellectual Disability	2
Long-Term Outcome of Gene Therapy for MLD and Prospective Newborn Screening: The Tübingen Experience	2
Effects of GPi-DBS on Speech and Swallowing in Pediatric Patients with Dystonia	2
Communal Poverty Is a Significant Risk Factor for Neonatal Seizures	2
Roifman Syndrome Is a Rare but Important Differential Diagnosis in Patients Suspected to Have CDG Syndrome	2
	1
Pediatric Multiple Sclerosis—Experience of a Tertiary Care Center	1
MRI Imaging in 15 Children with Acute Flaccid Myelitis, Baseline and Follow-Up	1
STAC3-related myopathy: A Report of a Cohort of Seven Saudi Arabian Patients	1
Pain in Children and Adolescents with Cerebral Palsy: A Cross-sectional Survey Study	1
Electroclinical Features of Epilepsy in Kleefstra Syndrome	1
Early-Onset Dystonia and Visual Impairment Preceding Epileptic Encephalopathy Associated with PIGA Gene Mutation	1
Tazarotene and Bexarotene Show Efficacy as In Vitro Therapeutic Agents in Multiple Sulfatase Deficiency	1
Effects of Sodium Lactate Infusion in Two Girls with Glucose Transporter 1 Deficiency Syndrome	1
IgM Synthesis and MRZ Reaction Are Not Associated with Factors Predicting a Poor Prognosis in Pediatric MS	1
One Size Doesn't Fit All: Four Score in the Pediatric ICU	1
Hypomyelination of Early Myelinating Brain Structures	1
Adult Perspectives on the Long-term Impact of Neonatal Encephalopathy Due to Hypoxia-Ischemia	1
Epilepsy Surgery: Bridging the Gap with Minimally Invasive Techniques	1
Liquid Biopsy: Short-Cut to Identify Mosaic Causes of Hemihypertrophic Overgrowth	1
Early and Aggressive Treatment May Modify Anti-Hu Associated Encephalitis Prognosis	1
49th Annual Conference of the Society for Neuropediatrics	1
	1
Influence of Fingolimod Treatment on Disease Outcome and MRI Brain Volumes in Children with CLN 3	1
Ongoing Experiences with Repetitive Neuromuscular Magnetic Stimulation in Children and Adolescents with Headache Disorders	1
EBV and Concomitant Acute Motor and Sensory Axonal Neuropathy in a Healthy 15-Year-Old Female	1
Spasms and not Myoclonus in Subacute Sclerosing Panencephalitis. A Case Report and Review of the Literature	1
	1
Redness in a Squinted Eye: Is that a Clue?	1
Supratentorial Demyelinating Lesions Following Severe Acute Respiratory Syndrome Coronavirus-2 Infection: A Pediatric Case Report	1
Oculogyric Crisis and Criss-Cross Gait of GLUT1 Deficiency Syndrome	1
Association between Cognitive Abilities before the Age of 3 Years and Those at Least 1 Year Later in Children with Developmental Delay	1
	1
Anti-CD20 versus Dimethyl Fumarate as First-Line Treatment for Pediatric Multiple Sclerosis: A Retrospective Cohort Study	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
Psychomotor and Cognitive Outcome in Very Preterm Infants in Vorarlberg, Austria, 2007–2019	1
A Retrospective Analysis of Perinatal Stroke: Hemostasis Abnormalities, Neonatal Seizures, Epilepsy Recurrence, and 2-Year Neurological Outcome	1
MOG-Encephalitis is the Most Prevalent Autoimmune Encephalitis in Children: MERIN Study Data on Encephalitis	1
Biallelic Variants in OAS2 with Neurodevelopmental Disorders, Skeletal Dysplasia, and Immunodeficiency	1
Clinical Course May Be Independent from Neuroimaging in DEPDC-5-Related Epilepsy	1
Frequency and Spectrum of Psychiatric Symptoms in Children with NMDA-R Encephalitis	1
Amplitude-Integrated Electroencephalogram in Premature Infants: A Prospective Cohort Study	1
Metabolic Neuropathies in Children and Adolescents with LCHAD/MTP Deficiency: Insights from In Vivo Magnetic Resonance Neurography	1
	1
The Benefit of Genome Sequencing in Neurodevelopmental Disorders	1
Tracking Memory Function in Migraine: Preliminary Analyses in Adults	1
Pediatric Autoimmune Encephalitis: A Nationwide Study in Latvia	1
Thanks to Reviewers and Authors	1
Arterial Ischemic Stroke in Adolescents and Young Adults: Results of an European Cohort (GER-FR-NL)	1
A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism	1
Primary Headache Types and Quality of Life in Children with Epilepsy	1
Pulsatile Dexamethasone Therapy Reduces Epileptic Burden and Improves Sleep Physiology in Children with Genetic Drug-Resistant Epilepsy	1
Presence of a Positive MRZ Reaction Improves the Predictions of Multiple Sclerosis in Children with Optic Neuritis	1
Expanding SNX14-Associated Movement Disorders in a Genotype–Phenotype Spectrum	1
The Role of Calcitonin Gene-Related Peptide and Amylin in Pediatric Migraine	1

PDE10A Mutation as an Emerging Cause of Childhood-Onset Hyperkinetic Movement Disorders: A Review of All Published Cases	1
Comparative Analysis of Supratentorial Intraventricular Tumors in Adults and Pediatrics in a Developing Country: Clinicopathological Features, Surgical Management, and Outcomes	1
Sleep Macro- and Microstructure Is Altered in Children with Epilepsy	1
Efficacy of Melatonin for Insomnia in Children with Autism Spectrum Disorder: A Meta-analysis	1
Five Years Follow-up of Opsoclonus–Myoclonus–Ataxia Syndrome-Associated Neurogenic Tumors in Children	1
Konzept eines N of 1 Therapieprotokolls zur standardisierten Erfassung individueller Heilversuche bei Patienten mit genetischen Entwicklungsstörungen	1
Multiparametric Investigation of Network-Reorganization Promoted by Repetitive Neuromuscular Magnetic Stimulation Applied to the Anterior Tibial Muscle	1