Results 81 to 90 of about 1,270,049 (189)

From molecular convergence to clinical divergence: Comparative pathogenic mechanisms and therapeutic trajectories in C9orf72-ALS/FTD and myotonic dystrophy

Neurobiology of Disease
Short tandem repeat expansions in C9orf72, DMPK, and CNBP genes cause amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD) and myotonic dystrophy types 1 and 2 (DM1/DM2), respectively.
Claudia Alberti, Valeria Parente, Stefania Corti, Valeria Ada Sansone   +3 more
doaj   +1 more source

Multiple pilomatricomas in the setting of myotonic dystrophy [PDF]

, 2016
The association between multiple pilomatricomasand the autosomal dominant neurodegenerativedisorder myotonic dystrophy has been described inthe literature.
Park, Joyce H, Terushkin, Vitaly, Soter, Nicholas A, Leger, Marie, Brinster, Nooshin   +4 more
core   +1 more source

Hypothyroidism unmasking proximal myotonic myopathy

, 2000
No specific diagnostic test is available to identify patients with proximal myotonic myopathy and to distinguish them from common disorders causing similar complaints.
R. C. Griggs, V. Sansone, R. T. Moxley III   +2 more
core   +1 more source

Sleep disorders in myotonic dystrophy type 2: a controlled polysomnographic study and self-reported questionnaires

, 2014
There is a paucity of data available regarding the occurrence of sleep disorders in myotonic dystrophy type 2 (DM2). In this study the sleep-wake cycle and daytime sleepiness were investigated in DM2 patients and compared with results from healthy ...
MERCURI, NICOLA BIAGIO, Massa, R, C. Terracciano, PLACIDI, FABIO, R. Massa, M. Albanese, A. Petrucci, Romigi, A, MARCIANI, MARIA GRAZIA, Mercuri, N, A. Romigi, M. G. Marciani, B. Di Gioia, Vitrani, G, Petrucci, A, F. Izzi, Liguori, C, Di Gioia, B, Placidi, F, Izzi, F, F. Placidi, N. B. Mercuri, C. Liguori, Terracciano, C, MASSA, ROBERTO, Albanese, M, G. Vitrani, Marciani, M   +27 more
core   +1 more source

Clinical characteristics of pseudodystonia

Chinese Journal of Contemporary Neurology and Neurosurgery
Objective To summarize the clinical characteristics of pseudodystonia, analyze its types that mimic dystonia, pathophysiological mechanisms, etiology, treatment and prognosis.
ZHANG Wei-wei, WANG Bi-bo, CHEN Sheng, WU Yi-wen   +3 more
doaj   +1 more source

Skin features in myotonic dystrophy type 1: An observational study

, 2015
Poor data regarding skin involvement in Myotonic Dystrophy, also named Dystrophia Myotonica type 1, have been reported. This study aimed to investigate the prevalence and types of skin disorders in adult patients with Myotonic Dystrophy type 1.
CAMPANATI, Anna, OFFIDANI, ANNAMARIA, GANZETTI, GIULIA, K. Giuliodori, GIANNONI, MELANIA, A. Offidani, GIULIODORI, KATIA, L. Provinciali, BURATTI, LAURA, SILVESTRINI, Mauro, M. Silvestrini, A. Campanati, M. Giannoni, C. Cagnetti, G. Ganzetti, CAGNETTI, CLAUDIA, PROVINCIALI, LEANDRO, L. Buratti   +17 more
core   +1 more source

Dystrophia myotonia type 1 with excessive daytime sleepiness: one case report

Chinese Journal of Contemporary Neurology and Neurosurgery, 2020
DOI：10.3969/j.issn.1672⁃6731.2020.07 ...
Rui-rui ZHANG, Sheng-hui WANG, Ying-ying BAI, Jie-wen ZHANG, Hong-ju ZHANG   +4 more
doaj  

Cognitive decline in Myotonic dystrophy type 1 (DM1)

, 2011
Background: Myotonic dystrophy type 1 (DM1) is a disorder associated with deficits in facial emotion recognition ability and social interaction skills 1, 2, 3.
C. Lindberg, L. Samuelsson, G. Meola, S. Winblad   +3 more
core   +2 more sources

Myotonic dystrophy as a potential killer

, 2009
A 19-year-old man suffered a cardiac arrest during a promenade with his friends. Cardiac resuscitation was started immediately. Anamnesis uncovered that the father as well as a cousin of the patient suffered from myotonic dystrophy (MD).
Joerg, Lucas, Rickli, Hans, Brenner, Roman   +2 more
core   +1 more source

Evaluating Biomechanical and Viscoelastic Properties of Masticatory Muscles in Temporomandibular Disorders: A Patient-Centric Approach Using MyotonPRO Measurements

Bioengineering
The temporomandibular joint (TMJ) is essential for chewing and speaking functions, as well as for making facial expressions. However, this joint can be affected by disorders, known as temporomandibular disorders (TMDs), induced by complex causes that ...
Daniele Della Posta, Ferdinando Paternostro, Nicola Costa, Jacopo J. V. Branca, Giulia Guarnieri, Annamaria Morelli, Alessandra Pacini, Gaetano Campi   +7 more
doaj   +1 more source