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Journal Articles and Books
‹
9761 - 9780
from
808,254
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Schneider, P.; Mamudi, L.; Lezius, S.; Nickel, M.; Schwering, C.; Olfe, J.; Schulz, A.; Stute, F.:
Does Intraventricular Enzyme Replacement Therapy (ICV-ERT) with Cerliponase Alfa Affect Cardiac Function in Patients with CLN2 Disease?
Neuropediatrics; Issue S 01, 2024
Abstract
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Hecher, L.; Gorski-Alberts, E.; Begemann, M.; Herwig, J.; Lausberg, E.; Hillebrand, G.; Volk, A.; Kurth, I.; Kraft, F.; Kutsche, K.:
A Complex Structural Variation and a Nonsense Variant
in trans
Cause the
VPS50
-Related Disorder
Neuropediatrics; Issue S 01, 2024
Abstract
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Sigel, H.; Bredow, J.; Schön, G.; Bley, A.:
Analysis of Anthropometric Measurements in Children with Canavan Disease
Neuropediatrics; Issue S 01, 2024
Abstract
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Horn, S.; Sahm, F.; Sievers, P.; Hirsch, S.; Witt, O.; Van Tilburg, C.; Milde, T.; Jones, D.; Koch, A.; Capper, D.; Driever, P. Hernáiz:
RASopathy Spectrum Disorders Associated with Low-Grade Glioma Beyond Neurofibromatosis Type 1 in the German HIT-LOGGIC-Registry
Neuropediatrics; Issue S 01, 2024
Abstract
HTML
Licandro, S. Andrea; Consalvi, S.; Petrini, S.; Vandenborne, K.; Cazzaniga, S.; Fossati, G.; Schmitt, D.; Bettica, P.; Puri, P. L.; Rus, A. Aartsma:
Givinostat Effects on DMD Pathogenesis
Neuropediatrics; Issue S 01, 2024
Abstract
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Fazeli, W.; Frizzo, S.; Spar, B.; Dalby, K.; Patel, D.; Jacotin, H.; Souza, M.; Petrou, S.:
Significant Seizure Reduction in Pediatric Participants with Early-Onset SCN2A Developmental and Epileptic Encephalopathy Following Treatment with Elsunersen, a Novel Antisense Oligonucleotide: Findings from the EMBRAVE Study
Neuropediatrics; Issue S 01, 2024
Abstract
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Bernardi, K.; Decarolis, B.; Thiel, M.; Rostasy, K.; Keyvani, K.; Simon, T.; Richardson, T.; Koy, A.; Dafsari, H. S.:
Novel Clinical and Molecular Findings in Rare Histiocytotic Disorders May Mimic Inflammatory CNS Disorders
Neuropediatrics; Issue S 01, 2024
Abstract
HTML
Witzel, M.; Risch, A.; Auburger, M.; Kleinle, S.; Sadikovic, B.; Hallermayr, A.; Abicht, A.; Neuhann, T.:
Whole Genome Methylation Profiling to Enhance Diagnostic Yield in Neurodevelopmental Disorders
Neuropediatrics; Issue S 01, 2024
Abstract
HTML
Dafsari, H. S.; Deneubourg, C.; Singh, K.; Maroofian, R.; EPG5 consortium; Duchen, M.; Antebi, A.; Houlden, H.; Fanto, M.; Jungbluth, H.:
Mutations in EPG5 Are Associated with a Wide Spectrum of Neurodevelopmental and Neurodegenerative Disorders
Neuropediatrics; Issue S 01, 2024
Abstract
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Kuchling, J.; Koukou, G.; Bartels, F.; Cleaveland, B.; Panzer, A.; Gowert, T.; Naggar, I. El; Bertolini, A.; Rostasy, K.; Finke, C.:
Central Vein Sign (CVS) Is Highly Prevalent in Pediatric-Onset Multiple Sclerosis (POMS) Lesions: Real-World Data from Susceptibility-Weighted Imaging (SWI) at 1.5 Tesla
Neuropediatrics; Issue S 01, 2024
Abstract
HTML
Manssen, L.; Makowski, C.:
NCSE in a Child with Angelman Syndrome
Neuropediatrics; Issue S 01, 2024
Abstract
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Bredow, J.; Sigel, H.; Posern, C.; Santer, R.; Nagy, A.; Gronborg, S.; Eichler, F.; Murko, S.; Bley, A.:
Spectrum of Disease Severity in Canavan Leukodystrophy
Neuropediatrics; Issue S 01, 2024
Abstract
HTML
Makridis, K. L.; Töfflinger, E. V.; Heim, M.; Owald, D.; Kaindl, A. M.:
Modeling Developmental and Epileptic Encephalopathies in
Drosophila melanogaster
as a Rapid In Vivo Assay System for Antiseizure Medication Response and Neurodevelopment
Neuropediatrics; Issue S 01, 2024
Abstract
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Soga, Koichi; Yamaguchi, Mayumi; Fujiwara, Takeshi; Hayakawa, Fuki; Kusano, Yumi; Kobori, Ikuhiro; Tamano, Masaya:
Endoscopic biliary drainage using a narrow-diameter endoscope in a patient with obstructive jaundice and pancreatic cancer
Endoscopy; Issue S 01, 2024
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PDF (1259 kb)
Distelmaier, F.; Sezer, A.; Helm, C.; Waldmüller, S.; Seibt, A.; Gangfuß, A.; Kölbel, H.; Schara-Schmidt, U.; Yuksel, D.; Talim, B.; Mayatepek, E.; Nikolin, S.; Weis, J.; Roos, A.; Haack, T. B.:
Biallelic Truncating Variants in PACSIN3 Cause Childhood-Onset Myopathy with hyperCKaemia
Neuropediatrics; Issue S 01, 2024
Abstract
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Jung, E.; Kossorotoff, M.; Oechsle, A.-L.; Denier, C.; Dong, K. Tran; Ekker, M.; Olivieri, M.; Lieftüchter, V.; Heinen, F.; de Leeuw, F.-E.; Gerstl, L.:
Arterial Ischemic Stroke in Adolescents and Young Adults: Results of an European Cohort (GER-FR-NL)
Neuropediatrics; Issue S 01, 2024
Abstract
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Cramer, S. J.; Reindl, M.; Karenfort, M.; Schanda, K.; Schimmel, M.; Thiels, C.; Rostasy, K.; Wendel, E.-M.; Group, Biomarker Study:
Clinical Presentation of Children with Low-Titer MOGAD
Neuropediatrics; Issue S 01, 2024
Abstract
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Schönberg, N. K.; Lechner, M. F.; Wilke, J.; Peters, J. T.; Marinov, M.; Hörand, R.; Wagner, J.; Heinen, F.; Bonfert, M. V.:
Impairments of Balance and Sensory Integration in Children with Headache Disorders
Neuropediatrics; Issue S 01, 2024
Abstract
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Fretz, M.; Börner-Schröder, C.; van der Velde, M.; Wilschut, T.; Lense, S.; Pompignoli, J.; Marinov, M.; Schramm, S.; Sollmann, N.; Heinen, F.; van Rijn, H.; Bonfert, M.:
Tracking Memory Function in Migraine: Preliminary Analyses in Adults
Neuropediatrics; Issue S 01, 2024
Abstract
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Martakis, K.; Hahn, A.; Fields, T.; Strupp, M.; Bremova-Ertl, T.:
Long-Term Findings of
N
-Acetyl-L-leucine for Niemann–Pick Disease Type C
Neuropediatrics; Issue S 01, 2024
Abstract
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‹
9761 - 9780
from
808,254
›