Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions
ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos +5 more
wiley +1 more source
Structural overview of lyssavirus glycoproteins, antibodies, and receptors. [PDF]
Callaway HM.
europepmc +1 more source
Persistent Bilateral [18F]THK5351 and Migrating Unilateral [18F]FDG Uptake in Anti‐LGI1 Encephalitis
ABSTRACT Anti–leucine‐rich glioma‐inactivated 1 encephalitis (LGI1‐E) can cause persistent cognitive deficits, but the mechanisms remain unclear. A 40‐year‐old woman with LGI1‐E presented with subacute cognitive deficits and showed mild left medial temporal lobe (MTL) swelling and fluid‐attenuated inversion recovery (FLAIR) hyperintensity on initial ...
Yusuke Akitomi +8 more
wiley +1 more source
Design and Characterization of an HRC-Derived Peptide Inhibitor of Canine Coronavirus Spike-Mediated Fusion. [PDF]
Iovane V +9 more
europepmc +1 more source
Association Between Motor Pathway Damage and Motor Deficit in Upper and Lower Limb in People With MS
ABSTRACT Objective Corticospinal tract damage is common in people with MS, but the degree of clinical symptoms varies. We hypothesize that corticospinal tract lesions are more extensive and severe in people with MS with motor impairments in both upper and lower limbs.
Mathilde Liffran +13 more
wiley +1 more source
Multimodal emotion recognition using hybrid deep feature fusion under speaker-independent evaluation. [PDF]
Ibrahim E +2 more
europepmc +1 more source
Finding the needle in a haystack: Single amino acids that shape viral virulence. [PDF]
Sanchez DJ.
europepmc +1 more source
Changes in gene expression at the early stages of barramundi (Lates calcarifer) muscle cell line development. [PDF]
Mn M, Sa J, Db J, Marcoli R, Dr J.
europepmc +1 more source
Evaluation of fixation in amblyopic patients with myopic anisometropia. [PDF]
Lara-Cánovas S, Lara-Lacárcel F.
europepmc +1 more source

