Suchergebnis | Hamburg Open Science

Facetten

34 Einträge gefunden

Flexible endoscopic evaluation of swallowing in children with type 1 spinal muscular atrophy
2023 - Forschungsinformationssystem des UKE - frei zugänglich
CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients
2023 - Forschungsinformationssystem des UKE - frei zugänglich
Retrospective Pediatric Cohort Study Validates NEOS Score and Demonstrates Applicability in Children With Anti-NMDAR Encephalitis
2023 - Forschungsinformationssystem des UKE - frei zugänglich
Experiences of Health Care and Psychosocial Needs in Parents of Children with Spinal Muscular Atrophy
2023 - Forschungsinformationssystem des UKE - frei zugänglich
Health-Related Quality of Life and mental health of families with children and adolescents affected by rare diseases and high disease burden: the perspective of affected children and their siblings
2022 - Forschungsinformationssystem des UKE - frei zugänglich
Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study
2022 - Forschungsinformationssystem des UKE
CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders
2021 - Forschungsinformationssystem des UKE - frei zugänglich
The natural history of Canavan disease: 23 new cases and comparison with patients from literature
2021 - Forschungsinformationssystem des UKE - frei zugänglich
ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Development of the "Hamburg Best Practice Guidelines for ICV-Enzyme Replacement therapy (ERT) in CLN2 Disease" Based on 6 Years Treatment Experience in 48 Patients
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Intrathecal Administration of Nusinersen in Pediatric SMA Patients with and without Spine Deformities: Experiences and Challenges over 3 Years in a Single Center
2021 - Forschungsinformationssystem des UKE
MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency
2021 - Forschungsinformationssystem des UKE
Evaluation of two family-based intervention programs for children affected by rare disease and their families – research network (CARE-FAM-NET): study protocol for a rater-blinded, randomized, controlled, multicenter trial in a 2x2 factorial design
2020 - Forschungsinformationssystem des UKE
The impact of long-term ventilator-use on health-related quality of life and the mental health of children with neuromuscular diseases and their families: need for a revised perspective?
2020 - Forschungsinformationssystem des UKE
Quality of Life and Mental Health in Mothers and Fathers Caring for Children and Adolescents with Rare Diseases Requiring Long-Term Mechanical Ventilation
2020 - Forschungsinformationssystem des UKE
The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation
2020 - Forschungsinformationssystem des UKE
Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant
2019 - Forschungsinformationssystem des UKE
Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder
2018 - Forschungsinformationssystem des UKE

Aktive Facetten

Facetten

Zugriff

Einrichtung

Medientyp

Karte

Erscheinungsjahr

Autor/in

Sprache

Flexible endoscopic evaluation of swallowing in children with type 1 spinal muscular atrophy

CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients

Retrospective Pediatric Cohort Study Validates NEOS Score and Demonstrates Applicability in Children With Anti-NMDAR Encephalitis

Experiences of Health Care and Psychosocial Needs in Parents of Children with Spinal Muscular Atrophy

Health-Related Quality of Life and mental health of families with children and adolescents affected by rare diseases and high disease burden: the perspective of affected children and their siblings

Gene replacement therapy with onasemnogene abeparvovec in children with spinal muscular atrophy aged 24 months or younger and bodyweight up to 15 kg: an observational cohort study

CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders

The natural history of Canavan disease: 23 new cases and comparison with patients from literature

ANK3 related neurodevelopmental disorders: expanding the spectrum of heterozygous loss-of-function variants

Evaluation of putative CSF biomarkers in paediatric spinal muscular atrophy (SMA) patients before and during treatment with nusinersen

Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?

Development of the "Hamburg Best Practice Guidelines for ICV-Enzyme Replacement therapy (ERT) in CLN2 Disease" Based on 6 Years Treatment Experience in 48 Patients

Intrathecal Administration of Nusinersen in Pediatric SMA Patients with and without Spine Deformities: Experiences and Challenges over 3 Years in a Single Center

MCM complex members MCM3 and MCM7 are associated with a phenotypic spectrum from Meier-Gorlin syndrome to lipodystrophy and adrenal insufficiency

Evaluation of two family-based intervention programs for children affected by rare disease and their families – research network (CARE-FAM-NET): study protocol for a rater-blinded, randomized, controlled, multicenter trial in a 2x2 factorial design

The impact of long-term ventilator-use on health-related quality of life and the mental health of children with neuromuscular diseases and their families: need for a revised perspective?

Quality of Life and Mental Health in Mothers and Fathers Caring for Children and Adolescents with Rare Diseases Requiring Long-Term Mechanical Ventilation

The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation

Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder