Results 181 to 190 of about 883,016 (338)

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, Lucy Norcliffe‐Kaufmann, Maria Luisa Cotrina, Zenith Khan, Kaia Dalamo, Patricio Millar Vernetti, Matthew Lawless, Elisabetta Morini, Monica Salani, Marla Weetall, Jana Narasimhan, Agostino G. Rocha, Susan A. Slaugenhaupt, Horacio Kaufmann   +13 more
wiley   +1 more source

Advances in research on congenital and hereditary intestinal diseases: From molecular mechanisms to precision medicine. [PDF]

Intractable Rare Dis Res
Yang L, Wang Y, Yuan L, Tang W.
europepmc   +1 more source

Prediction of Myasthenia Gravis Worsening: A Machine Learning Algorithm Using Wearables and Patient‐Reported Measures

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, Haoqi Sun, Sophie Lehnerer, Lea Gerischer, Maximilian Mönch, Christian Meisel, Andreas Meisel, Pushpa Narayanaswami   +7 more
wiley   +1 more source

Implications of gut microbiota-mediated epigenetic modifications in intestinal diseases. [PDF]

Gut Microbes
Zhang Q, Liu Y, Li Y, Bai G, Pang J, Wu M, Li J, Zhao X, Xia Y.   +8 more
europepmc   +1 more source

A Review of Colonoscopy in Intestinal Diseases. [PDF]

Diagnostics (Basel), 2023
Hong SM, Baek DH.
europepmc   +1 more source

Changes in intestinal mucosal barrier function in patients with liver diseases: effect of glutamine intervention

, 2009
Huai‐Yu Song, Jianrong Yang
openalex   +1 more source

Intestinal invagination secondary to intestinal adenocarcinoma in coeliac disease [PDF]

, 2015
Cem Şahin, Burak Özşeker, Tamer Sağıroğlu, Neşat Çullu   +3 more
openalex   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Meteorological factors, air pollution, and hospitalization rates of intestinal diseases. [PDF]

Medicine (Baltimore)
Wang J, Wang F, Li X, Li D, Liu Y, Li J, Liu Z, Liu J, Tang L.   +8 more
europepmc   +1 more source

Twinning as a risk factor for neonatal acute intestinal diseases: a case-control study. [PDF]

Front Pediatr, 2023
Peila C, Spada E, Riboldi L, Capitanio M, Pellegrino F, Coscia A.   +5 more
europepmc   +1 more source