Results 111 to 120 of about 26,572 (220)
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 +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 +4 more
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Cost-effectiveness of DNA-diagnosis for four monogenic diseases [PDF]
, 1994 In this paper the costs and benefits associated with DNA-diagnosis of individuals who are at risk of a child with a monogenic disease and who seek genetic counselling because of their reproductive plans are predicted under various assumptions using a ...
Hout, B.A. (Ben) van +2 more
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Stem Cell ResearchCongenital 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 +4 more
doaj +1 more source
Glasgow Contributions to the Human Gene Mapping Project, 1959-1987 [PDF]
, 2015 No abstract ...
Ferguson-Smith, Malcolm
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Monitorização electrocardiográfica ambulatória na distrofia miotónica do Tipo 1 [PDF]
, 2007 A distrofia miotónica é uma doença multissistémica, sendo o envolvimento do coração a segunda causa de morte destes doentes. O atingimento do tecido de condução cardíaco é o mais frequente, caracteristicamente de forma variavelmente progressiva e ...
Cabral, Sofia +5 more
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Analyzing Pain Medication Use and Adherence in Patients with Myotonic Dystrophy and Facioscapulohumeral Dystrophy [PDF]
, 2015 Objectives: Myotonic dystrophy (DM) and facioscapulohumeral dystrophy (FSHD) are two of the most common muscular dystrophies in adults. It has been reported that patients with these two disorders may suffer from pain and inadequate pain management.
Fitzgerald, Bryan, Parkhill, Amy L.
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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 +4 more
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Searching for candidate genes for male infertility [PDF]
, 2003 Aim: We describe an approach to search for candidate genes for male infertility using the two human genome databases: the public University of California at Santa Cruz (UCSC) and private Celera databases which list known and predicted gene sequences and ...
Armes, JE +4 more
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