Results 251 to 260 of about 752,420 (346)

Maternal Sirolimus Treatment Reverses Cardiac Rhabdomyoma‐Induced Hydrops Fetalis in a Twin Gestation With Tuberous Sclerosis Complex

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardiac rhabdomyomas are often the presenting sign of tuberous sclerosis complex (TSC). Prior reports have shown that maternal sirolimus treatment can reduce rhabdomyomas. We used maternal sirolimus to reverse hydrops fetalis due to a massive cardiac rhabdomyoma in a twin gestation.
David M. Ritter, Kristin Schneider, Nkiru Ezeakudo, Darcy A. Krueger, Tomoyuki Mizuno, Timothy K. Knilans, David N. Franz   +6 more
wiley   +1 more source

Relevance of choroid plexus volumes in multiple sclerosis. [PDF]

Fluids Barriers CNS
Krieger B, Bellenberg B, Roenneke AK, Schneider R, Ladopoulos T, Abbas Z, Rust R, Schmitz-Hübsch T, Chien C, Gold R, Paul F, Lukas C.   +11 more
europepmc   +1 more source

Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo, Simona Petrucci, Giuliana Lentini, Marco Fabiani, Maria Piane, Francesco Pisani   +5 more
wiley   +1 more source

Validation of the Swedish Multiple Sclerosis registry for pediatric-onset multiple sclerosis. [PDF]

Mult Scler J Exp Transl Clin
Sandesjö F, Alping P, Fink K, Wickström R, Piehl F, Frisell T, McKay KA.   +6 more
europepmc   +1 more source

m6A Methylation‐Induced Autophagy Impairment by TFEB Regulation in SOD1‐G93A ALS Cell Model

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.
ABSTRACT We investigate the role of m6A RNA methylation in regulating transcription factor EB (TFEB) and its contribution to mitochondrial autophagy (mitophagy) dysfunction in amyotrophic lateral sclerosis (ALS). ALS cell models were used to analyse mitophagy markers and TFEB expression under METTL3 and TFEB modulation, using RT‐qPCR, Western blot ...
Di An, Yuhao Wu, Jingzhe Han, Pingping Fang, Yi Bu, Guang Ji, Jinliang Deng, Xueqin Song   +7 more
wiley   +1 more source

Infection, Relapses, and Pseudo-Relapses in Individuals With Multiple Sclerosis. [PDF]

Neurol Clin Pract
Salter A, Lancia S, Sharma M, Cutter GR, Fox RJ, Marrie RA.   +5 more
europepmc   +1 more source

Understanding the Housing and Support Experience of People With Complex Disability in Australia: A Qualitative Analysis of Submissions to the Disability Royal Commission

Australian Journal of Social Issues, EarlyView.
ABSTRACT In 2019, the Australian government established the Royal Commission into Violence, Abuse, Neglect and Exploitation of People with Disability (‘Disability Royal Commission’, DRC) to investigate widespread mistreatment of people with disability. Nearly 10,000 people with disability, their families and supporters engaged with the DRC.
Kate D'Cruz, Fiona Carey, Libby Witts, Jessie Spence, Peter Mulherin, Megan Topping, Di Winkler, Jacinta Douglas   +7 more
wiley   +1 more source

Thalamic Network Controllability Predicts Cognitive Impairment in Multiple Sclerosis. [PDF]

Hum Brain Mapp
Yang Y, Woollams A, Lipp I, Zhuo Z, Litwińczuk MC, Tomassini V, Liu Y, Trujillo-Barreto NJ, Muhlert N.   +8 more
europepmc   +1 more source

ATTEMPTS TO ISOLATE VIRUS FROM THE CEREBROSPINAL FLUID OF PATIENTS WITH MULTIPLE SCLEROSIS

, 1963
Halldór Thormar, Herdis von Magnus
openalex   +1 more source

Self‐Administered Taste Testing Without Water: Normative Data for the 53‐Item Waterless Empirical Taste Test (WETT)

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background According to the National Health and Nutrition Examination Survey (NHANES), more than 20 million Americans suffer from chronic taste problems. Unfortunately, quantitative testing is rarely performed, self‐reports are inaccurate, and “taste” is often confused with olfaction‐dependent flavors.
Richard L. Doty, Ryan Sharetts, Shima T. Moein   +2 more
wiley   +1 more source