Results 111 to 120 of about 26,826 (219)

Congenital Myotonic Dystrophy

Pediatric Neurology Briefs, 1987
Ten infants with congenital myotonic dystrophy admitted to the Dept Pediatrics and Neonatal Medicine, Royal Postgraduate Medical School, Hammersmith Hospital, London, 1982-86, were investigated by ultrasonography or CT brain scans between 1 day and 2 ...
J Gordon Millichap
doaj   +1 more source

Prevalence of myotonic dystrophy in Iceland [PDF]

, 2007
Neðst á síðunni er hægt er að nálgast greinina í heild sinni með því að smella á hlekkinn View/OpenOBJECTIVE: Epidemiologic studies of Myotonic Dystrophy (Dystrophic Myotony, DM) have shown variable regional prevalence from 0,46 to 189/105.
Gerður Leifsdóttir, Guðjón Jóhannesson, John Benedikz, Jón Jóhannes Jónsson, Sigurlaug Svein­björnsdóttir   +4 more
core  

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   +6 more sources

Treatment of sleep central apnea with non-invasive mechanical ventilation with 2 levels of positive pressure (bilevel) in a patient with myotonic dystrophy type 1 [PDF]

, 1906
We are reporting a case of a 29 year-old female with diagnosis of myotonic dystrophy type 1 (Steinert’s disease) with excessive daytime sleepiness, muscle fatigue, snoring, frequent arousals, non-restorative sleep, and witnessed apneas.
Akamine, Ricardo Tera, Grossklauss, Luís Fernando, Moreira, Gustavo Antonio, Pradella-Hallinan, Marcia, Chiéia, Marco Antônio, Mesquita, Denis, Bulle Oliveira, Acary Souza, Tufik, Sergio   +7 more
core   +2 more sources

Ubiquitination of MBNL1 Is Required for Its Cytoplasmic Localization and Function in Promoting Neurite Outgrowth

Cell Reports, 2018
Summary: The Muscleblind-like protein family (MBNL) plays an important role in regulating the transition between differentiation and pluripotency and in the pathogenesis of myotonic dystrophy type 1 (DM1), a CTG expansion disorder.
Pei-Ying Wang, Kuei-Ting Chang, Yu-Mei Lin, Ting-Yu Kuo, Guey-Shin Wang   +4 more
doaj   +1 more source

Myotonic Dystrophy: An Anaesthetic Dilemma

Indian Journal of Anaesthesia, 2009
Myotonic dystrophy (dystrophia myotonica, DM) is a chronic, slowly progressing, highly variable inherited multisystemic disease that can manifest at any age from birth to old age.
N Gupta, K N Saxena, Asish Kumar Panda, Raktima Anand, Anil Mishra   +4 more
doaj  

Generation of a lymphoblastoid-derived induced pluripotent stem cell line (CBRCULi015-A) from a patient with congenital myotonic dystrophy

Stem Cell Research
Congenital myotonic dystrophy (CDM) is a genetic disease caused by an abnormally long CTG repeat expansion in the DMPK gene, which generally increases in size following intergenerational transmission.
Thiéry De Serres-Bérard, Dominic Jauvin, Valérie Pouliot, Jack Puymirat, Mohamed Chahine   +4 more
doaj   +1 more source

Myotonic Dystrophy [PDF]

Proceedings of the Royal Society of Medicine, 1955
openaire   +2 more sources

CONGENITAL MYOTONIC DYSTROPHY – CASE REPORT

Zdravniški Vestnik, 2001
Background. Myotonic dystrophy is inherited as an autosomal dominant trait. It is characterized by myotonia, myopathy of voluntary and involuntary muscles, frontal baldness in men, cardiac conduction abnormalities, catharacts, intellectual deterioration ...
David Neubauer, Breda Šušteršič, Darja Paro Panjan, Borut Peterlin, Janez Zidar   +4 more
doaj  

Calcium activates SK channels in the intact human lens. [PDF]

, 2003
Collison, DJ, Duncan, G, Rhodes, JD
core   +1 more source