Results 81 to 90 of about 11,146 (222)
The FEBS Journal, EarlyView.Plant‐type pentatricopeptide repeat proteins capable of C‐to‐U RNA editing perform faithfully when expressed in a new heterologous system, the yeast Saccharomyces cerevisiae. They were tested with constitutive and inducible expression and with a set of different solubility tags. PPR56, PPR65, and PPR78 from P.
Shyam Ramanathan +4 more
wiley +1 more source
Myotonic dystrophy-2: Unusual phenotype due to a small CCTG-expansion
Balkan Journal of Medical Genetics, 2018 Myotonic dystrophy type 2 (MD2) is a multisystem disease, predominantly affecting the proximal limb muscles, eyes, endocrine organs, heart and intestines. Longterm asymptomatic creatine kinase (hyper-CKemia) of more than 20 years duration, in association
Finsterer J +4 more
doaj +1 more source
Narcolepsy and rapid eye movement sleep
Journal of Sleep Research, Volume 34, Issue 2, April 2025.Summary Since the first description of narcolepsy at the end of the 19th Century, great progress has been made. The disease is nowadays distinguished as narcolepsy type 1 and type 2. In the 1960s, the discovery of rapid eye movement sleep at sleep onset led to improved understanding of core sleep‐related disease symptoms of the disease (excessive ...
Francesco Biscarini +4 more
wiley +1 more source
The Importance of Clinical Acumen for Prenatal Diagnosis in an Increasingly Technological World
Prenatal Diagnosis, EarlyView.
Teresa N. Sparks, Lyn S. Chitty
wiley +1 more source
Journal of Sleep Research, EarlyView.ABSTRACT Multiple sclerosis is frequently associated with sleep disorders. This study aimed to evaluate subjective and objective sleep parameters in de novo relapsing–remitting multiple sclerosis patients compared to healthy controls and to explore correlations with cerebrospinal fluid cytokines.
A. Romigi +10 more
wiley +1 more source
Senolytics and exercise: Dual modalities for rejuvenating muscle
The Journal of Physiology, EarlyView.Abstract figure legend The role of senolytics on the heart and skeletal muscle. Senescent cell burden increases with ageing, disuse and disease. The senolytics dasatinib+quercetin (D+Q), navitoclax and fisetin, as well as exercise, eliminate senescent cells, reducing senescent cell burden and their senescence‐associated secretory phenotype (SASP ...
Zeynep Elif Yesilyurt‐Dirican +4 more
wiley +1 more source
Electrophysiological evaluation in myotonic dystrophy: correlation with CTG length expansion
Arquivos de Neuro-Psiquiatria, 2001 In myotonic dystrophy (MD), disease severity has been correlated with expansion of CTG repeats in chromosome 19. The aims of this study were to evaluate efficacy of electromyography in the diagnosis of MD, access the frequency and the characteristics of ...
Pfeilsticker Beatriz Helena Miranda +2 more
doaj
Technologies for engineering repetitive DNA
Quantitative Biology, Volume 14, Issue 3, September 2026.Abstract Repetitive DNA, a fundamental architectural element of genomes, is widespread across organisms and comprises about 54% of the human genome. With advances in long‐read sequencing and bioinformatics approaches, highly repetitive sequences can now be characterized in depth.
Shuting Ma, Yali Cui, Yi Wu
wiley +1 more source
A practical approach to the patient presenting with dropped head [PDF]
, 2016 Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions that can be divided into those with neuromuscular weakness of neck ...
Demicoli, Marija, Marsh, Eleanor A.
core +1 more source