SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
Amyotrophic Lateral Sclerosis Prevalence Projection in 2040: A Less Rare Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To project ALS prevalence across multiple countries through 2040, accounting for both population aging and increased survival. Methods Data from the Piemonte and Valle d'Aosta ALS register (PARALS) was used to estimate the trends in incidence and prevalence from 2005 to 2019. Survival trends over this period were also assessed.
Rosario Vasta +18 more
wiley +1 more source
Nocturnal hypoxia in motor neuron disease is not predicted by standard respiratory function tests [PDF]
, 2006 Jennica M. Winhammar +5 more
openalex +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Aims This study aimed to explore the relationship between stress‐induced hyperglycemia (SIH) and in‐hospital medical complications in patients with acute stroke. Methods We enrolled 865,765 patients with acute stroke from the Chinese Stroke Center Alliance cohort.
Xintong Song +6 more
wiley +1 more source
One-Year Outcomes in Patients Who Survived COVID-19-Related Acute Respiratory Distress Syndrome (ARDS): Pulmonary Function Tests (PFTs), Oxygen Requirement, and Quality of Life (QoL) [PDF]
, 2023 Rami Arfoosh +6 more
openalex +1 more source
Nationwide Survey of Atopic Myelitis and Plexin D1‐Immunoglobulin G‐Related Pain
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To elucidate the features of plexin D1‐immunoglobulin (Ig)G‐associated neuropathic pain and its relationship to atopic myelitis (AM) in a nationwide Japanese survey. Methods A preliminary survey questionnaire was sent to 1574 selected departments (neurology and pediatrics/pediatric neurology) to explore the numbers of AM and plexin ...
Jun‐ichi Kira +10 more
wiley +1 more source
Türk Kardiyoloji Derneği Arşivi, 2014 Objectives: In this study, we evaluated the correlation between severity of deformity and cardiopulmonary function with regards to echocardiographic and spirometric findings.
Alper Hazım Gürsu +4 more
doaj +1 more source
T1 and T2-Weighted Magnetic Resonance Imaging of Respiratory Skeletal Muscles Correlates with Pulmonary Function Testing in Patients with Duchenne Muscular Dystrophy [PDF]
, 2021 Jacob A. Kaslow +3 more
openalex +1 more source
Subjective (CAT, MMRC) versus objective (PFT, 6MWD, SPO2) assessment in stable COPD patients [PDF]
Introduction:Chronic obstructive pulmonary disease (COPD) is a prevalent respiratory disease that leads to morbidity and mortality in the world. The excess of investigation has shown that this illness is not confined only to the respiratory system ...
بیوک آقازاده, کاترین +3 more
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Insights Into the Antigenic Repertoire of Unclassified Synaptic Antibodies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective We sought to characterize the sixth most common finding in our neuroimmunological laboratory practice (tissue assay‐observed unclassified neural antibodies [UNAs]), combining protein microarray and phage immunoprecipitation sequencing (PhIP‐Seq). Methods Patient specimens (258; 133 serums; 125 CSF) meeting UNA criteria were profiled;
Michael Gilligan +22 more
wiley +1 more source