Search

Author/Creator Alves, Cesar A.

1. Acquisition of Developmental Milestones in Hypomyelination With Atrophy of the Basal Ganglia and Cerebellum and Other TUBB4A-Related Leukoencephalopathy. (September 2021)

Authors:
Gavazzi, Francesco; Charsar, Brittany A.; Williams, Catherine; Shults, Justine; Alves, Cesar A.; Adang, Laura; Vanderver, Adeline
Journal:
Journal of child neurology
Issue:
Volume 36:Number 10(2021)
Page Start:
805
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Bi‐allelic KARS1 pathogenic variants affecting functions of cytosolic and mitochondrial isoforms are associated with a progressive and multisystem disease. Issue 6 (11th May 2021)

Authors:
Cappuccio, Gerarda; Ceccatelli Berti, Camilla; Baruffini, Enrico; Sullivan, Jennifer; Shashi, Vandana; Jewett, Tamison; Stamper, Tara; Maitz, Silvia; Canonico, Francesco; Revah‐Politi, Anya; Kupchik, Gabriel S.; Anyane‐Yeboa, Kwame; Aggarwal, Vimla; Benneche, Andreas; Bratland, Eirik; Berland, Si...
Journal:
Human mutation
Issue:
Volume 42:Issue 6(2021)
Page Start:
745
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

Limit your search