The Movement Disorder Spectrum of ATP1A3-Related Disorders: Cross-Sectional Analysis and Video Archive of 88 Patients movementdisorders.onlinelibrary.wiley.com/doi/10.1002/... #hvhebron #neuroped
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Biallelic SUPT4H1 Variants Cause a Multisystem Neurodevelopmental Disorder Associated with Disrupted Transcription www.sciencedirect.com/science/arti... #hvhebron #gen #neuroped #rad [Text complet]
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Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B -Related Marbach-Schaaf Neurodevelopmental Syndrome: A Case Series onlinelibrary.wiley.com/doi/10.1111/... #hvhebron #gen #neuroped [Text complet]
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Reply to: “Unravelling the Complexity of VPS16 Splicing: Clinical Implications and Unresolved Questions” movementdisorders.onlinelibrary.wiley.com/doi/epdf/10.... #hvhebron #neuroped
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285th ENMC international workshop: SMN-associated neurodevelopmental disorder: type 1 spinal muscular atrophy and the brain, 31st January - 2nd February 2025, Hoofddorp, The Netherlands www.nmd-journal.com/article/S096... #hvhebron #neuroped
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Type 0 Spinal Muscular Atrophy Detected by Prenatal Exome Sequencing: Towards a Recognizable Fetal Phenotype obgyn.onlinelibrary.wiley.com/doi/10.1002/... #hvhebron #gen #obstetriciahvh #neuroped #rad
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Trastornos paroxísticos no epilépticos en la edad pediátrica www.pediatriaintegral.es/publicacion-... #hvhebron #neuroped
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Intrathecal onasemnogene abeparvovec for treatment-experienced patients with spinal muscular atrophy: a phase 3b, open-label trial www.nature.com/articles/s41... #hvhebron #neuroped [Text complet]
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Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies
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Manejo multidisciplinar de la miopatía miotubular ligada al cromosoma X en España y Portugal: un análisis de una serie de casos www.sciencedirect.com/science/arti... #hvhebron #neuroped [Text complet]
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Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B-Related Marbach-Schaaf Neurodevelopmental Syndrome: A Case Series onlinelibrary.wiley.com/doi/10.1111/... #hvhebron #gen #neuroped [Text complet]
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Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses www.nature.com/articles/s41... #hvhebron #neuroped [Text complet]
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Non-neurological, non skeletal outcomes after hematopoietic stem and progenitor cell-gene therapy -OTL-203- for Hurler syndrome www.sciencedirect.com/science/arti... #hvhebron #ohp #neuroped
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Deep Brain Stimulation in Children and Adolescents with ε-Sarcoglycan Myoclonus Dystonia Causes a Sustained Improvement in Motor Functionality and Quality of Life movementdisorders.onlinelibrary.wiley.com/doi/10.1002/... #hvhebron #neuroped [Text complet]
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Long-Term Evaluation of Givinostat in Duchenne Muscular Dystrophy, and Natural History Comparisons onlinelibrary.wiley.com/doi/10.1002/... #hvhebron #neuroped [Text complet]
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Case Report: Hypoinsulinaemic Hypoketotic Hypoglycaemia Due to an Activating Variant in AKT2 jcrpe.org/articles/cas... #hvhebron #neuroped #endoped #gen
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Entropy, Irreversibility, and Time-Series Deep Learning of Kinematic and Kinetic Data for Gait Classification in Children with Cerebral Palsy, Idiopathic Toe Walking, and Hereditary Spastic Paraplegia www.mdpi.com/1424-8220/25... #hvhebron #neuroped [Text complet]
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Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trial www.sciencedirect.com/science/arti... #hvhebron #neuroped
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Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy academic.oup.com/brain/advanc... #hvhebron #gen #neuroped
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Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale www.sciencedirect.com/science/arti... #hvhebron #neuroped [Text complet]
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Acute flaccid myelitis in Europe between 2016 and 2023: indicating the need for better registration www.eurosurveillance.org/content/10.2... #hvhebron #micro #neuroped [Text complet]
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Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci www.nature.com/articles/s41... #hvhebron #neuroped
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Awareness of bone strength in patients with neuromuscular disorders: ERN EURO-NMD clinician survey and European patient survey www.sciencedirect.com/science/arti... #hvhebron #neuroped [Text complet]
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OBSCN undergoes extensive alternative splicing during human cardiac and skeletal muscle development skeletalmusclejournal.biomedcentral.com/articles/10.... #hvhebron #neuroped #obstetriciahvh [Text complet]
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Asymmetric Myocardial Involvement as an Early Indicator of Cardiac Dysfunction in Pediatric Dystrophinopathies: A Study on Cardiac Magnetic Resonance (CMR) Parametric Mappings link.springer.com/article/10.1... #hvhebron #cardioped #neuroped [Text complet]
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IAPRD new consensus classification of myoclonus www.sciencedirect.com/science/arti... #hvhebron #neuroped
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RNA methyltransferase SPOUT1/CENP-32 links mitotic spindle organization with the neurodevelopmental disorder SpADMiSS www.nature.com/articles/s41... #hvhebron #neuroped [Text complet]
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Historia natural de la distonía mioclónica asociada a variantes de SGCE en niños y adolescentes onlinelibrary.wiley.com/doi/10.1111/... #hvhebron #neuroped
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