Purpose: To prospectively assess sensitivity and specificity of magnetic resonance (MR)
imaging measurements of midbrain, pons, middle cerebellar peduncles (MCPs), and superior …

Background Recent studies indicate an increased frequency of mutations in the gene
encoding glucocerebrosidase (GBA), a deficiency of which causes Gaucher's disease, among …

We report missense mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) in
seven large pedigrees affected with Charcot-Marie-Tooth neuropathy type 2A (CMT2A). …

Tractography based on non-invasive diffusion imaging is central to the study of human brain
connectivity. To date, the approach has not been systematically validated in ground truth …

ContextIdentification and replication of susceptibility genes for Parkinson disease at the
population level have been hampered by small studies with potential biases. α-Synuclein (SNCA…

Clustered attacks of epileptic episodes originating from the frontal lobe during sleep are the
main symptoms of autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE, MIM …

Objective: Machine learning classification has been the most important computational
development in the last years to satisfy the primary need of clinicians for automatic early diagnosis …

A gene mutated in Charcot-Marie-Tooth disease type 4B (CMT4B), an autosomal recessive
demyelinating neuropathy with myelin outfoldings, has been mapped on chromosome 11q22…

Importance While mutations in glucocerebrosidase (GBA1) are associated with an increased
risk for Parkinson disease (PD), it is important to establish whether such mutations are also …

Dietary fat is an important source of nutrition. Here we identify eight mutations in SARA2 that
are associated with three severe disorders of fat malabsorption. The Sar1 family of proteins …