McLeod syndrome is caused by mutations of XK, an X‐chromosomal gene of unknown
function. Originally defined as a peculiar Kell blood group variant, the disease affects …

Importance To our knowledge, the efficacy of transferring next-generation sequencing from a
research setting to neuromuscular clinics has never been evaluated. Objective To translate …

Background Selective olfactory deficits occur in 70% to 90% of patients with Parkinson
disease, independent of disease severity and duration. Olfactory testing may be a useful …

The prevalence of sporadic inclusion body myositis (sIBM) is variable in different
populations and ethnic groups. A previous survey in Western Australia in 2000 found a …

Objective Comprehensive clinical characterization of congenital titinopathy to facilitate
diagnosis and management of this important emerging disorder. Methods Using massively …

There has been increasing recognition of pre-motor manifestations of Parkinson's disease
(PD) resulting from early brainstem involvement. We sought to determine whether ventilatory …

Facioscapulohumeral muscular dystrophy (FSHD) is a common genetic disease of the
skeletal muscle with a characteristic pattern of weakness. Facioscapulohumeral muscular …

Background We report age-dependent penetrance estimates for leucine-rich repeat kinase 2
(LRRK2)-related Parkinson's disease (PD) in a large sample of familial PD. The most …

Background and Aims: There have been few studies of the variability in the clinical
phenotype in sporadic inclusion body myositis (sIBM) and it is not known whether the human …

BACKGROUND--The most common form of CMT with slow nerve conduction velocities
(CMT type I) is CMT1A, caused by a submicroscopic duplication of a region of DNA on …