Objective Mutations in the genes encoding the extracellular matrix protein collagen VI (ColVI)
cause a spectrum of disorders with variable inheritance including Ullrich congenital …

Introduction Upper limb evaluation of patients with Duchenne Muscular Dystrophy is crucially
important to evaluations of efficacy of new treatments in non-ambulant patients. In patients …

The molecular basis underlying the clinical variability in symptomatic Duchenne muscular
dystrophy (DMD) carriers are still to be precised. We report 26 cases of early symptomatic …

The aim of the study was to identify daytime predictors of nocturnal gas exchange anomalies
in children with neuromuscular disease (NMD) and normal daytime gas exchange. Lung …

The Xq28 duplication involving the MECP2 gene (MECP2 duplication) has been mainly
described in male patients with severe developmental delay (DD) associated with spasticity, …

Assessment of the upper limb strength in non-ambulant neuromuscular patients remains
challenging. Although potential outcome measures have been reported, longitudinal data …

Mental retardation (MR), which affects 1.5–2% of people in the general population [McLaren
and Bryson, 1987], is characterized by significantly subaverage intellectual functioning (an …

Natural killer (NK)/lymphokine-activated killer (LAK) cell-based immunotherapy could be
beneficial against major histocompatibility complex class I–negative tumor residual disease …

Introduction Parents of persons with profound intellectual and multiple disabilities (PIMD)
play a major and often lifelong role in the care and support of their child. A better …

Background The care organization of persons with profound intellectual and multiple disabilities
(PIMD) varies by country according to the health care system. This study used a large …