RCMI Coordinating Center (RCMI CC)
Home
About
RCMI Coordinating Center
Overview
Sharing Data
Network Graph
Help
History (0)
Find People
Find Everything
Login
to edit your profile (add a photo, awards, links to other websites, etc.)
Edit My Profile
My Person List (
0
)
Return to Top
Search Result Details
Back to Search Results
This page shows the details of why an item matched the keywords from your search.
Search Results
Gonzalez, Michael J
One or more keywords matched the following items that are connected to
Gonzalez, Michael J
Item Type
Name
Concept
Pedigree
Academic Article
A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease.
Academic Article
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
Academic Article
Motor protein mutations cause a new form of hereditary spastic paraplegia.
Academic Article
Pure and syndromic optic atrophy explained by deep intronic OPA1 mutations and an intralocus modifier.
Academic Article
Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations.
Academic Article
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease.
Academic Article
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder.
Academic Article
Loss of function of glucocerebrosidase GBA2 is responsible for motor neuron defects in hereditary spastic paraplegia.
Search Criteria
Pedigree