… type 4) is rare, with few isolated cases reported. The objective of the present study was to
describe a cohort of patients with SMA type … the largest cohort of patients with SMA type 4 and …

… a characteristic feature of multiple system atrophy (MSA), but … profile and its progression in
a cohort of patients with MSA. … indicate that the cognitive profile of patients with MSA can be …

… patients and healthy controls c: Visual representation of grey matter atrophy profile of SMA
patients … blue colour indicates the grey matter profile of SMA patients. (For interpretation of the …

• We examined 24 individuals in four family pedigrees with dominantly inherited optic atrophy
(DOA); 12 patients met the criteria for diagnosis of DOA and two were suspect. Our data …

… profile associated with asymmetrical, predominantly right-sided, temporal lobe atrophy. …
Finally, identification of the clinical profile associated with right temporal lobe atrophy was …

… profile of patients with PCA compared to a typical cohort with primary amnestic AD or dementia
of the Alzheimer’s type (… compared the performance on these tests in two patient groups. …

… of MU loss in a cohort of type III and IV SMA patients using MUNIX and the assessment of
compensatory mechanisms by analysing the MUSIX profile, using healthy controls (HC) for the …

… the linguistic profile of PCA. The analysis involved a comparison of PCA patients with both
healthy controls and a previously described reference sample of patients with LPA in the …

… the limbic regions and severe atrophy of the frontal lobe.10 Patients with atypical MSA show
… in this study did not have significant cortical atrophy. We assume that there is a spectrum of …

Background and Objectives Nusinersen was approved as the first disease-modifying therapy
in spinal muscular atrophy (SMA). Our aim was to analyse therapy-related changes in …