Results 161 to 170 of about 2,414,789 (346)
De Novo Variant in the RPL27 Gene in a Second Infant with Diamond-Blackfan Anemia
Case Reports in HematologyWe describe a 10-month-old female with Diamond-Blackfan anemia (DBA) who presented with macrocytic anemia and reticulocytopenia. Whole exome sequencing revealed a de novo intronic variant in RPL27 (NM_000988.3:c.-2-1G > A p.?) previously reported in one ...
Joshua Glass +3 more
doaj +1 more source
Inhibition of Classical and Alternative Complement Pathway by Ravulizumab and Eculizumab
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To explore the feasibility of classical (CH50) and alternative (AH50) complement pathway activity as potential biomarkers for treatment guidance and monitoring during therapy with ravulizumab in patients with generalized myasthenia gravis (gMG) and compare these to therapeutic drug monitoring under eculizumab.
Lea Gerischer +14 more
wiley +1 more source
Communications BiologyCeramides are lipids that play vital roles in complex lipid synthesis, membrane function, and cell signaling. Disrupted ceramide homeostasis is implicated in cell-death and several neurologic diseases.
John J. McInnis +8 more
doaj +1 more source
Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Familial dysautonomia (FD) is a hereditary neurodevelopmental disorder caused by aberrant splicing of the ELP1 gene, leading to a tissue‐specific reduction in ELP1 protein expression. Preclinical models indicate that increasing ELP1 levels can mitigate disease manifestations.
Alejandra González‐Duarte +13 more
wiley +1 more source
Multivariable clinical-genetic model for predicting dyskinesia in early-onset Parkinson’s disease
Translational Neurodegeneration, 2021 Yong-Ping Chen +11 more
doaj +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Peripheral neuropathies contribute to patient disability but may be diagnosed late or missed altogether due to late referral, limitation of current diagnostic methods and lack of specialized testing facilities. To address this clinical gap, we developed NeuropathAI, an interpretable deep learning–based multiclass classification ...
Chaima Ben Rabah +7 more
wiley +1 more source
How many zebras are there, and where are they hiding in medical literature? A literature review of publications on rare diseases [PDF]
, 2019 José L. Walewski +2 more
openalex +1 more source
A Case Report on Rare Disease - Pemphigus Foliaceus [PDF]
, 2020 Manohar Reddy YV
openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Myasthenia gravis (MG) is a rare disorder characterized by fluctuating muscle weakness with potential life‐threatening crises. Timely interventions may be delayed by limited access to care and fragmented documentation. Our objective was to develop predictive algorithms for MG deterioration using multimodal telemedicine data ...
Maike Stein +7 more
wiley +1 more source
12. Rare Diseases and Congenital Heart Diseases: A Call for Genetic Insight [PDF]
Hande Kaymakçalan Çelebiler
openalex +1 more source