• Publications
  • Influence
Saccadic slowing in myotonic dystrophy and CTG repeat expansion
Abstract Recent studies have shown that the severity of the several clinical symptoms of myotonic dystrophy (DM) is closely related to the size of a CTG triplet repeat in the gene encoding myotoninExpand
Phenylbutazone induces expression of MBNL1 and suppresses formation of MBNL1-CUG RNA foci in a mouse model of myotonic dystrophy
Myotonic dystrophy type 1 (DM1) is caused by abnormal expansion of CTG repeats in the 3′ untranslated region of the DMPK gene. Expanded CTG repeats are transcribed into RNA and make an aggregate withExpand
New mutation of the Na channel in the severe form of potassium‐aggravated myotonia
Myotonia manifests in several hereditary diseases, including hyperkalemic periodic paralysis (HyperPP), paramyotonia congenita (PMC), and potassium‐aggravated myotonia (PAM). These are allelicExpand
Abnormal calcium metabolism in myotonic dystrophy as shown by the Ellsworth-Howard test and its relation to CTG triplet repeat length
Abstract Myotonic dystrophy (DM) is an autosomal dominant disorder characterized by peculiar clinical features. Its molecular basis is the unstable expansion of a CTG triplet repeat in the geneExpand
LDB3 splicing abnormalities are specific to skeletal muscles of patients with myotonic dystrophy type 1 and alter its PKC binding affinity
Myotonic dystrophy type 1 (DM1) is caused by transcription of CUG repeat RNA, which causes sequestration of muscleblind-like 1 (MBNL1) and upregulation of CUG triplet repeat RNA-binding proteinExpand
Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy
Myotonic dystrophy type 1 (DM1) is an RNA gain-of-function disorder in which abnormally expanded CTG repeats of DMPK sequestrate a splicing trans-factor MBNL1 and upregulate another splicingExpand
Macroglossia in advanced amyotrophic lateral sclerosis
Introduction: An enlarged tongue (macroglossia) has been reported in advanced‐stage patients with amyotrophic lateral sclerosis (ALS). Methods: In this study we examined the prevalence ofExpand
A Case Report of Proliferative Myositis of Bilateral Sternocleidomastoid Muscles.
A case of prolif erative myositis of the bilateral sternocleidomastoid muscle in a 64-year old woman is reported. The patient visited our clinic, complaining of a sore throat and cervical pain, withExpand
New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1)
Myotonic dystrophy (DM; OMIM 160900, also known as dystrophia myotonica, myotonia atrophica and Steinert disease) is an autosomal dominant myotonic myopathy associated with abnormalities of otherExpand
(CTG)n expansions in various tissues from a myotonic dystrophy patient