Results 71 to 80 of about 26,826 (219)
The C9ORF72 mutation brings more answers and more questions. [PDF]
, 2013 The clinical, neuropsychiatric and neuroimaging features of patients who carry the important new C9ORF72 mutation are discussed in this special series of Alzheimer's Research & Therapy.
Miller, Bruce L
core +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
, 2007 We propose a simple model of pathologic microsatellite expansion, and describe an inherent self-repairing mechanism working against expansion. We prove that if the probabilities of elementary expansions and contractions are equal, microsatellite ...
Amos +48 more
core +1 more source
Social cognition in myotonic dystrophy type 1: Specific or secondary impairment? [PDF]
, 2018 Aims The cognitive profile of Myotonic Dystrophy type 1 (DM1) has been described in recent decades. Moreover, DM1 patients show lowered social engagement and difficulties in social-cognitive functions.
Aliri Lazcano, Jone +5 more
core +2 more sources
Journal of Medical Genetics, 2002 As with the second edition of this book, published back in 1989, this third edition is an excellent account of clinical and scientific aspects of myotonic dystrophy. The book is easy to read, sustaining this reviewer’s attention to scan the whole book in a single sitting, while subsequently being of value as a reference for closer consultation on ...
openaire +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
IDMC-6 - The Sixth International Myotonic Dystrophy Consortium Meeting
European Journal of Histochemistry, 2009 In 1992 three groups of investigators found that myotonic dystrophy of Steinert, classical myotonic dystrophy, now known as myotonic dystrophy type 1 (DM1), results from an unstable CTG repeat expansion in the non-coding 3’ region of serinethreonine ...
G Meola
doaj +1 more source
Glasgow Contributions to the Human Gene Mapping Project, 1959-1987 [PDF]
, 2015 No abstract ...
Ferguson-Smith, Malcolm
core
Tibialis anterior muscle needle biopsy and sensitive biomolecular methods: A useful tool in myotonic dystrophy type 1 [PDF]
, 2015 Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by a CTG repeat expansion in 3\u2019UTR of DMPK gene. This mutation causes accumulation of toxic RNA in nuclear foci leading to splicing misregulation of specific genes. In view of future
Cardani, Rosanna +9 more
core +3 more sources