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Rare Research Report features summaries of recent scientific publications from the Rare Diseases Clinical Research Network, which is funded by the National Institutes of Health. The network includes 20 active...
mostra di più
Rare Research Report features summaries of recent scientific publications from the Rare Diseases Clinical Research Network, which is funded by the National Institutes of Health. The network includes 20 active consortia—teams of researchers, patients, and clinicians—each focused on a group of rare disorders. Join us for new episodes each month.
Learn more about the RDCRN: https://www.rarediseasesnetwork.org
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Learn more about the RDCRN: https://www.rarediseasesnetwork.org
Rare Research Report
Rare Research Report
BVMC: Measuring the Angiographic Compactness Score for Brain Arteriovenous Malformations in Children with Hereditary Hemorrhagic Telangiecta
26 LUG 2024 · New research from the Brain Vascular Malformation Consortium (BVMC). This summary is based on a paper published in the journal Child’s Nervous System on March 22, 2024, titled "Brain AVM compactness score in children with hereditary hemorrhagic telangiectasia."
Read the paper here: https://link.springer.com/article/10.1007/s00381-024-06366-z
Learn more about BVMC: https://bvmc.rarediseasesnetwork.org
DC: Exploring Factors and Mechanisms Underlying Differences Between Males and Females with Dystonia
26 LUG 2024 · New research from the Dystonia Coalition (DC). This summary is based on a paper published in the journal Movement Disorders Clinical Practice on May 22, 2024, titled "Sex Differences in Dystonia."
Read the paper here: https://movementdisorders.onlinelibrary.wiley.com/doi/10.1002/mdc3.14059
Learn more about DC: https://dc.rarediseasesnetwork.org
DC: Using Proteomics Methods to Identify Changes in Blood Plasma Proteins in Patients with Adult-Onset Focal Dystonias
26 LUG 2024 · New research from the Dystonia Coalition (DC). This summary is based on a paper published in the journal Annals of Neurology on April 5, 2024, titled "Blood-Based Proteomics for Adult-Onset Focal Dystonias."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/ana.26929
Learn more about DC: https://dc.rarediseasesnetwork.org
DSC: Examining the Function of the Blood-Brain Barrier in Tuberous Sclerosis Complex
26 LUG 2024 · New research from the Developmental Synaptopathies Consortium (DSC). This summary is based on a paper published in the Journal of Neurodevelopmental Disorders on May 23, 2024, titled "Rescue of impaired blood-brain barrier in tuberous sclerosis complex patient derived neurovascular unit."
Read the paper here: https://jneurodevdisorders.biomedcentral.com/articles/10.1186/s11689-024-09543-y
Learn more about DSC: https://dsc.rarediseasesnetwork.org
GDMCC: Describing the Latest Advancements in Primary Ciliary Dyskinesia
26 LUG 2024 · New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the journal Pediatrics on May 2, 2024, titled "Primary Ciliary Dyskinesia."
Read the paper here: https://publications.aap.org/pediatrics/article-abstract/153/6/e2023063064/197224/Primary-Ciliary-Dyskinesia?redirectedFrom=fulltext?autologincheck=redirected
Learn more about GDMCC: https://gdmcc.rarediseasesnetwork.org
GLIA-CTN: Assessing Balance and Gait in Adults with Adrenoleukodystrophy Using Wearable Sensors
26 LUG 2024 · New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the Journal of Inherited Metabolic Disease on May 25, 2024, titled "International validation of meaningfulness of postural sway and gait to assess myeloneuropathy in adults with adrenoleukodystrophy."
Read the paper here: https://onlinelibrary.wiley.com/doi/10.1002/jimd.12753
Learn more about GLIA-CTN: https://glia-ctn.rarediseasesnetwork.org
BVMC: Investigating the Formation of New Brain Vascular Malformations in Patients with Hereditary Hemorrhagic Telangiectasia
26 GIU 2024 · New research from the Brain Vascular Malformation Consortium (BVMC). This summary is based on a paper published in the journal Pediatric Neurology on March 22, 2024, titled "De Novo Brain Vascular Malformations in Hereditary Hemorrhagic Telangiectasia."
Read the paper here: https://www.pedneur.com/article/S0887-8994(24)00088-2/abstract
Learn more about BVMC: https://bvmc.rarediseasesnetwork.org
GDMCC: Investigating Clinical Outcomes of Children with Primary Ciliary Dyskinesia and Situs Ambiguus
26 GIU 2024 · New research from the Genetic Disorders of Mucociliary Clearance Consortium (GDMCC). This summary is based on a paper published in the CHEST Journal on December 9, 2023, titled "Situs Ambiguus Is Associated With Adverse Clinical Outcomes in Children With Primary Ciliary Dyskinesia."
Read the paper here: https://journal.chestnet.org/article/S0012-3692(23)05841-5/abstract
Learn more about GDMCC: https://gdmcc.rarediseasesnetwork.org
GLIA-CTN: Describing Patients with TBL1XR1-Related Disorder Using a Caregiver Survey
26 GIU 2024 · New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the Orphanet Journal of Rare Diseases on February 20, 2024, titled "The spectrum of neurological presentation in individuals affected by TBL1XR1 gene defects."
Read the paper here: https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03083-3
Learn more about GLIA-CTN: https://glia-ctn.rarediseasesnetwork.org
GLIA-CTN: Sharing a New Approach to Creating Longitudinal Natural History Studies for Rare Diseases
26 GIU 2024 · New research from the Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN). This summary is based on a paper published in the journal Molecular Genetics and Metabolism on March 18, 2024, titled "Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach."
Read the paper here: https://www.sciencedirect.com/science/article/abs/pii/S1096719224002683?via%3Dihub
Learn more about GLIA-CTN: https://glia-ctn.rarediseasesnetwork.org
Rare Research Report features summaries of recent scientific publications from the Rare Diseases Clinical Research Network, which is funded by the National Institutes of Health. The network includes 20 active...
mostra di più
Rare Research Report features summaries of recent scientific publications from the Rare Diseases Clinical Research Network, which is funded by the National Institutes of Health. The network includes 20 active consortia—teams of researchers, patients, and clinicians—each focused on a group of rare disorders. Join us for new episodes each month.
Learn more about the RDCRN: https://www.rarediseasesnetwork.org
mostra meno
Learn more about the RDCRN: https://www.rarediseasesnetwork.org
Informazioni
| Autore | RDCRN |
| Organizzazione | RDCRN |
| Categorie | Scienze |
| Sito | www.rarediseasesnetwork.org |
| rdcrn.edc@gmail.com |
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