Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterised by
clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. The …

… Three patients with no mutation have undetectable levels of protein (J. Laporte, in preparation).
The causative MTM1 mutations were probably missed, although a less likely explanation …

Results Seventy-three (27 male/46 female patients) of the 200 patients with RP had at least
1 associated disease with potential dermatologic involvement or chronic dermatitis (Table 1). …

Background Cord-blood banks have increased the use of cord-blood transplantation in
patients with hematologic disorders. We have established a registry containing information on …

Adult patients with advanced non-Hodgkin's lymphoma in whom conventional chemotherapy
has failed are seldom cured thereafter. We studied 100 such patients with intermediate-…

X-linked recessive myotubular myopathy (MTM1) is characterized by severe hypotonia and
generalized muscle weakness, with impaired maturation of muscle fibres. We have restricted …

Typologies are well-established analytic tools in the social sciences. They can be “put to
work” in forming concepts, refining measurement, exploring dimensionality, and organizing …

… Inthis illuminating book, Joseph LaPorte argues that scientists do not discover that sentences
about natural kinds, like ‘Whales aremammals, not fish’,aretrue ratherthan false. Instead, …

… crayfish (Astacus leptodactilus) indicate that the pH tend to modify MMHg direct uptake by
changing mercury speciation rather than by affecting the physiology of animals (Laporte et al. …

Aim: The relative gastrointestinal toxicity of NSAIDs in normal clinical practice is unknown.
The aim of this study was to estimate the risk of upper gastrointestinal bleeding associated …