The use of muscle magnetic resonance imaging in patients with muscular dystrophies or
congenital myopathies has been limited. We describe the development of a short protocol to be …

… A first arrangement of each patient’s raw clinical data is provided in Tables A to C as … Tables
A to C (Supplemental file 3) show raw data of juvenile and adult AxD patients, as obtained …

Background: Congenital muscular dystrophies (CMD) with reduced glycosylation of alpha-dystroglycan
(α-DG) are a heterogeneous group of conditions associated with mutations in six …

Aim Cognitive visual dysfunctions (CVDs) reflect an impairment of the capacity to process
visual information. The question of whether CVDs might be classifiable according to the nature …

… of tryptophan into a leucine at position 73 (c.218G>T/p.(… One patient (P34) in our cohort
presented the c.554T>G/p.(… This heterozygous mutation was seen in combination with a c…

Background: Acute disseminated encephalomyelitis (ADEM) refers to a monophasic acute
multifocal inflammatory CNS disease. However, both relapsing and site-restricted variants, …

We set out to define visuo-perceptual impairment related to periventricular leukomalacia (PVL)
using the Developmental Test of Visual Perception (DTVP). Correlations were sought …

Infants with cerebral palsy (CP) frequently present cerebral visual impairment (CVI) often
caused by damage to retrochiasmatic pathways. This is particularly true of subjects with …

Randomized Controlled Trials have not jet established the best pharmacological management
of Acute Disseminated Encephalomyelitis (ADEM). High dose steroids are usually …

… Coronal MR images obtained with inversion-recovery (1500/30) (A) spin-echo (2500/40) (B),
and spin-echo (2500/100) (C) sequences show a reduction of the periventricular white …