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

Infantile spasms syndrome ( ISs ) is characterized by clinical spasms with ictal electrodecrement,
usually occurring before the age of 1 year and frequently associated with cognitive …

Upper limb assessment in non-ambulant patients remains a challenge. We have designed
new tools to precisely assess pinch (MyoPinch), grip (MyoGrip), wrist flexion and extension (…

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 …

… In contrary, both subjects had a very poor motor dexterity and motor programming, with a
failure in sequential movements of the K-ABC [Kaufman and Kaufman, 1983] (mental age …

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