Results 161 to 170 of about 11,580,920 (364)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Background Myelin oligodendrocyte glycoprotein antibody‐associated disease (MOGAD) can radiographically mimic multiple sclerosis (MS) and neuromyelitis optica spectrum disorder (NMOSD). The disease hallmarks cortical lesion, central vein sign (CVS) and paramagnetic rim lesions identified in MS have not yet been comprehensively investigated in ...
Lei Su +19 more
wiley +1 more source
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
Clinical Commentaries on Certain Rare Forms of Disease Connected with Syphilis [PDF]
J. Ciaran Hutchinson
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Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To provide a comprehensive clinical and genetic characterization of individuals with arthrogryposis multiplex congenita (AMC), focusing on the distribution of genetic etiologies across the neuromuscular spectrum and comparing myogenic and neurogenic subtypes. Methods A total of 105 individuals with AMC were clinically and genetically
Florencia Pérez‐Vidarte +13 more
wiley +1 more source
Rare diseases bullet 6: Pulmonary alveolar proteinosis: clinical aspects and current concepts on pathogenesis [PDF]
, 2000 Pallav L. Shah
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Scurvy: A Rare Disease or a Rare Diagnosis?
Journal of Emergencies, Trauma, and ShockIntroduction: Scurvy, the disease state caused by ascorbic acid deficiency, was once an extremely common disease but is now thought to be a rare disease in postmodern societies. Physicians are not trained to consider scurvy as a possible diagnosis in patients at risk; rather, it is considered a rare diagnosis to add to a ...
openaire +3 more sources
Genetic Profile and Symptom Pattern Explain Variability of Deep Brain Stimulation Effect in Dystonia
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Bilateral globus pallidus pars interna deep brain stimulation (GPi‐DBS) is a recognized and effective treatment option for drug‐resistant dystonia patients. However, the clinical GPi‐DBS outcomes vary significantly. Herein, we explored the pre‐implant factors affecting GPi‐DBS effectiveness.
Mahboubeh Ahmadipour +6 more
wiley +1 more source
Nasal Septal Perforation: A Rare Extraintestinal Manifestation of Crohn's Disease [PDF]
, 2000 Mark D. Kriskovich +2 more
openalex +1 more source
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large‐Scale Exome Sequencing
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Dystonia is one of the most prevalent movement disorders, characterized by significant clinical and etiological heterogeneity. Despite considerable heritability (~25%), the etiology in most patients remains elusive. Moreover, understanding correlations between clinical manifestations and genetic variants has become increasingly ...
Mirja Thomsen +47 more
wiley +1 more source