Inherited Disorders of Neurotransmitters: Classification and Practical Approaches for Diagnosis and Treatment.
来源期刊:NeuropediatricsDOI:10.1055/s-0038-1673630
Trametinib Induces Neurofibroma Shrinkage and Enables Surgery.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1691830
Neonatal Seizures-Are We there Yet?
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1693149
Japanese Encephalitis Virus-Induced Anti-N-Methyl-D-Aspartate Receptor Encephalitis: A Case Report and Review of Literature.
来源期刊:NeuropediatricsDOI:10.1055/s-0038-1675607
Young Adult Motor, Sensory, and Cognitive Outcomes and Longitudinal Development after Very and Extremely Preterm Birth.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1688955
Cannabidiol Interacts Significantly with Everolimus-Report of a Patient with Tuberous Sclerosis Complex.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1695786
Opening New Horizons in the Treatment of Childhood Onset Leukodystrophies.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1685529
Diagnostic Considerations in Acute Disseminated Encephalomyelitis and the Interface with MOG Antibody
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1693152
Comparative Analysis of Cerebral Magnetic Resonance Imaging Changes in Nontreated Infantile, Juvenile and Adult Patients with Niemann-Pick Disease Type C.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1698451
Homozygous TANGO2 Single Nucleotide Variants Presenting with Additional Manifestations Resembling Alternating Hemiplegia of Childhood‐Expanding the Phenotype of a Recently Reported Condition
来源期刊:NeuropediatricsDOI:10.1055/s-0038-1677514
Using Artificial Intelligence to Identify Factors Associated with Autism Spectrum Disorder in Adolescents with Cerebral Palsy.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1685525
Bilateral Striatal Necrosis with Polyneuropathy with a Novel SLC25A19 (Mitochondrial Thiamine Pyrophosphate Carrier OMIMI*606521) Mutation: Treatable Thiamine Metabolic Disorder-A Report of Two Indian Cases.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1693148
EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1692129
Rotavirus-Induced Neonatal Epileptic Encephalopathy-A Disease Spectrum Illustrated by Monochorionic Twins.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1695712
Adenosine Kinase Deficiency: Report and Review
来源期刊:NeuropediatricsDOI:10.1055/s-0038-1676053
Childhood Dystonia-Parkinsonism Following Infantile Spasms-Clinical Clue to Diagnosis in Early Beta-Propeller Protein-Associated Neurodegeneration.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1696688
Congenital Lymphatic Malformation and Aortic Aneurysm in a Patient with TSC2 Mutation.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1694985
Symmetrical Thalamic Lesions in the Newborn: A Case Series.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1683864
Diagnostic Pathway to Nonsense Mutation Dystrophinopathy: A Tertiary‐Center, Retrospective Experience
来源期刊:NeuropediatricsDOI:10.1055/s-0038-1675626
Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-3400979
X-linked Charcot-Marie-Tooth Disease Presenting with Stuttering Stroke-like Symptoms.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1692982
Recurrent Myalgia since Early Infancy-Misleading Clinical Course in a Child with Carnitine Palmitoyltransferase-II Deficiency.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1694977
Early Retinal Findings Following Cooling in Neonatal Encephalopathy
来源期刊:NeuropediatricsDOI:10.1055/s-0038-1669425
Developmental Regression and Epilepsy of Infancy with Migrating Focal Seizures Caused by TBCD Mutation: A Case Report and Review of the Literature.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1698423
A Female Patient with Xq28 Microduplication Presenting with Myotubular Myopathy, Confirmed with a Custom-Designed X-array.
来源期刊:NeuropediatricsDOI:10.1055/s-0038-1676513
Tuberous Sclerosis Complex Associated Neuropsychiatric Disorders and Parental Stress: Findings from a National, Prospective TSC Surveillance Study.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1693042
Outcome of Nonketotic Hyperglycinemia in Lebanon: 14-Year Retrospective Review.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1692207
Two Cases of Pediatric AQP4-Antibody Positive Neuromyelitis Optica Spectrum Disorder Successfully Treated with Tocilizumab.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1684004
Assessing and Improving Documentation of Pediatric Brain Death Determination within an Electronic Health Record
来源期刊:NeuropediatricsDOI:10.1055/s-0038-1676661
Neuromuscular Involvement in Glycogen Storage Disease Type III in Fifty Tunisian Patients: Phenotype and Natural History in Young Patients
来源期刊:NeuropediatricsDOI:10.1055/s-0038-1669786
Muscle‐Specific Kinase Autoimmune Myasthenia Gravis: Report of a Pediatric Case and Literature Review
来源期刊:NeuropediatricsDOI:10.1055/s-0038-1676514
Neurodevelopmental Disorders and Array-Based Comparative Genomic Hybridization: Sensitivity and Specificity using a Criteria Checklist for Genetic Test Performance.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1685216
Unresponsive Wakefulness Syndrome in Children after Near‐Drowning: Long‐Term Outcome and Impact on the Families
来源期刊:NeuropediatricsDOI:10.1055/s-0038-1676544
A p.Arg499His Mutation in SPAST Is Associated with Infantile Onset Ascending Spastic Paralysis Complicated with Dysarthria and Anarthria.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1694973
Just Expect It: Compound Heterozygous Variants of POMT1 in a Consanguineous Family-The Role of Next Generation Sequencing in Neuromuscular Disorders.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1695787
Mycoplasma Pneumoniae and Antibodies against Galactocerebroside in a 9-Year-Old Boy with Encephalitis.
来源期刊:NeuropediatricsDOI:10.1055/s-0038-1676054
Decision-Making Regarding Ventilator Support in Children with SMA Type 1-A Cross-Sectional Survey among Physicians.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1694986
Early Treatment in Acute Severe Encephalopathy Caused by ATP1A2 Mutation of Familial Hemiplegic Migraine Type 2: Case Report and Literature Review.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-3400986
An Unusual Cause of Chronic Headache in an Adolescent Boy: A Case Report.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1694974
Abstracts of the 47th Annual Meeting of the SENP (Société Européenne de Neurologie Pédiatrique)-Paris, March 22-23, 2019.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1685144
Clinical Pathways in Neuro-Ophthalmology.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1684005
Saposin B-Deficient Metachromatic Leukodystrophy Mimicking Acute Flaccid Paralysis.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1692646
Cerebral Insufficiency Caused by Diazoxide in a Premature Neonate with Congenital Hyperinsulinism.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-3400975
Further Insights into Developmental Brain Malformations and Leukoencephalopathy Associated with 6p25.3 Deletion.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1698421
Factors Influencing Motor Outcome of Hippotherapy in Children with Cerebral Palsy.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1685526
Neonatal Herpes Simplex Virus-1 Recurrence with Central Nervous System Disease in Twins after Completion of a Six-Month Course of Suppressive Therapy: Case Report.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-3402011
Cranial Neuroimaging and Clinical Neuroanatomy.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1685215
Identification of Copy Number Variation by Array-CGH in Portuguese Children and Adolescents Diagnosed with Autism Spectrum Disorders.
来源期刊:NeuropediatricsDOI:10.1055/S-0039-1694797
Accuracy of Flash Glucose Monitoring in a Patient with Dravet Syndrome on a Ketogenic Diet.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-1697621
Unilateral Hearing Loss Due to Cochlear Nerve Involvement as Isolated Symptom of a Primary Medulloblastoma.
来源期刊:NeuropediatricsDOI:10.1055/s-0039-3399528