Pattern Dystrophy of the Macula in a Case of Steinert Disease
Case Reports in Ophthalmology, 2013 Introduction: Myotonic dystrophies are typically associated with ocular complications like ptosis, weakness of the ocular muscle and cataracts, but also with less recognized retinal changes.
Filipe Esteves +4 more
doaj +1 more source
Quality of life and subjective symptom impact in Japanese patients with myotonic dystrophy type 1
BMC Neurology, 2022 Background Although functional impairment in patients with myotonic dystrophy is an important determinant of the quality of life (QoL), patients’ subjective evaluation of their symptoms may also affect their QoL.
Haruo Fujino +6 more
doaj +1 more source
Loss of muscleblind-like 1 results in cardiac pathology and persistence of embryonic splice isoforms. [PDF]
, 2015 Cardiac dysfunction is a prominent cause of mortality in myotonic dystrophy I (DM1), a disease where expanded CUG repeats bind and disable the muscleblind-like family of splice regulators.
Choi, Jongkyu +8 more
core
C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins [PDF]
, 2014 An expanded GGGGCC repeat in C9orf72 is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis. A fundamental question is whether toxicity is driven by the repeat RNA itself and/or by dipeptide repeat proteins ...
Cabecinha, M +19 more
core +1 more source
Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS
Frontiers in Cellular Neuroscience, 2017 Myotonic dystrophies are multisystemic diseases characterized not only by muscle and heart dysfunction but also by CNS alteration. They are now recognized as brain diseases affecting newborns and children for myotonic dystrophy type 1 and adults for both
Genevieve Gourdon +2 more
doaj +1 more source
Cellular and molecular mechanisms underlying muscular dystrophy [PDF]
, 2014 The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have ...
Kunkel, Louis M., Rahimov, Fedik
core +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
Disease Models & Mechanisms, 2021 First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms, helping early-career researchers promote themselves alongside their papers.
doaj +1 more source
Brain connectomics' modification to clarify motor and nonmotor features of myotonic dystrophy type 1 [PDF]
, 2016 The adult form of myotonic dystrophy type 1 (DM1) presents with paradoxical inconsistencies between severity of brain damage, relative preservation of cognition, and failure in everyday life.
Bozzali, Marco +12 more
core +6 more sources
Evolution of Prime Editing: Enhancing Efficiency and Expanding Capacity
Advanced Science, Volume 13, Issue 16, 18 March 2026.Most rare diseases are caused by genetic mutations. Prime editing (PE) has emerged as a versatile tool capable of inducing diverse mutations without generating DNA double‐strand breaks. Despite its significant clinical potential, PE faces limitations in terms of efficiency and scalability.
Jihyeon Yu +5 more
wiley +1 more source