Results 71 to 80 of about 15,859 (215)

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, Caltagirone, Carlo, Cercignani, Mara, Giacanelli, Manlio, Mancini, Matteo, Masciullo, Marcella, Mastropasqua, Chiara, Meola, Giovanni, Petrucci, Antonio, Serra, Laura, Silvestri, Gabriella, Spanò, Barbara, Torso, Mario   +12 more
core   +11 more sources

Glasgow Contributions to the Human Gene Mapping Project, 1959-1987 [PDF]

, 2015
No abstract ...
Ferguson-Smith, Malcolm
core  

Quantitative methods to monitor RNA biomarkers in myotonic dystrophy [PDF]

, 2018
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are human neuromuscular disorders associated with mutations of simple repetitive sequences in afected genes.
A Ketley, A Mankodi, A Mankodi, A Perfetti, AE Gudde, AO Nygren, BJ Hindson, CL Liquori, E Eldering, J Liu, JD Brook, JF Huggett, JF Huggett, JP Schouten, K Klonowska, KL Taneja, LJ Sznajder, M DeJesus-Hernandez, M Goodwin, M Marcinkowska-Swojak, M Marcinkowska-Swojak, M Nakamori, M Rozanska, M Wojciechowska, M Wojciechowska, M Wojciechowska, MG Hamshere, P Kozlowski, R Batra, RA White 3rd, RB Siboni   +30 more
core   +1 more source

The Myotonic Plot Thickens: Electrical Myotonia in Antimuscle-Specific Kinase Myasthenia Gravis

Case Reports in Neurological Medicine, 2015
Electrical myotonia is known to occur in a number of inherited and acquired disorders including myotonic dystrophies, channelopathies, and metabolic, toxic, and inflammatory myopathies.
Marcus Magnussen, Ioannis Karakis, Taylor B. Harrison   +2 more
doaj   +1 more source

Regression of lumbar disk herniation

Неврология, нейропсихиатрия, психосоматика, 2015
Compression of the spinal nerve root, giving rise to pain and sensory and motor disorders in the area of its innervation is the most vivid manifestation of herniated intervertebral disk.
G. Yu Evzikov, A. I. Isaikin, A. V. Kavelina, E. V. Shashkova, N. N. Alipbekov   +4 more
doaj   +1 more source

Serum Neurofilament Light Chain: A Marker of Nervous System Damage in Myopathies

Frontiers in Neuroscience, 2021
Purpose: Neurofilament light chain in serum (sNfL) has been suggested as a biomarker for the assessment of neuroaxonal damage. Since NfL are not expressed in muscle, elevated sNfL in patients with primary myopathies suggest additional nervous system ...
Annika Saak, Pascal Benkert, Katja Akgün, Eline Willemse, Jens Kuhle, Tjalf Ziemssen, Sandra Jackson, Jochen Schaefer   +7 more
doaj   +1 more source

DNA repair in the trinucleotide repeat disorders [PDF]

, 2017
Background Inherited diseases caused by unstable repeated DNA sequences are rare, but together represent a substantial cause of morbidity. Trinucleotide repeat disorders are severe, usually life-shortening, neurological disorders caused by nucleotide ...
Houlden, Henry, Jones, Lesley, Tabrizi, Sarah J.   +2 more
core   +2 more sources

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, Lucie Barateau, Fabio Pizza, Giuseppe Plazzi, Yves Dauvilliers   +4 more
wiley   +1 more source

Calcitriol increases MBNL1 expression and alleviates myotonic dystrophy phenotypes in HSALR mouse models

Journal of Translational Medicine, 2022
Background Myotonic dystrophy type 1 (DM1), one of the most common forms of adult-onset muscular dystrophy, is caused by abnormally expanded CTG repeats in the 3′ untranslated region of the DMPK gene.
Kun Huang, Dan-Dan Wang, Wen-Bao Hu, Wei-Qian Zeng, Xia Xu, Qiu-Xiang Li, Fang-Fang Bi, Huan Yang, Jian Qiu   +8 more
doaj   +1 more source

Biomechanics of foetal movement. [PDF]

, 2015
© 2015, AO Research Institute. All rights reserved.Foetal movements commence at seven weeks of gestation, with the foetal movement repertoire including twitches, whole body movements, stretches, isolated limb movements, breathing movements, head and neck
Nowlan, NC
core   +2 more sources