Masanobu Kinoshita

A patient with myotonic dystrophy type 1 (DM 1) accompanied by laryngeal and renal cell carcinomas had a small CTG triplet repeat expansion but no somatic instability in normal tissues.

Thr1313Met mutation in skeletal muscle sodium channels in a Japanese family with paramyotonia congenita.

[Severe hypocalcemia compatible with idiopathic hypoparathyroidism associated with psoriasis vulgaris].

Eye movement disorders in myotonic dystrophy type 1.

New mutation of the Na channel in the severe form of potassium-aggravated myotonia.

Four parameters increase the sensitivity and specificity of the exon array analysis and disclose 25 novel aberrantly spliced exons in myotonic dystrophy.

A case of water intoxication with prolonged hyponatremia caused by excessive water drinking and secondary SIADH.

LDB3 splicing abnormalities are specific to skeletal muscles of patients with myotonic dystrophy type 1 and alter its PKC binding affinity.

Macroglossia in advanced amyotrophic lateral sclerosis.

Phenylbutazone induces expression of MBNL1 and suppresses formation of MBNL1-CUG RNA foci in a mouse model of myotonic dystrophy.

Analysis of resting salivation rate in patients with amyotrophic lateral sclerosis using tracheostomy invasive ventilation.