Ataxia with oculomotor apraxia type 2 fibroblasts exhibit increased susceptibility to oxidative DNA damage

Por Roda, Ricardo H., Rinaldi, Carlo, Singh, Rajat, Schindler, Alice B., Blackstone, Craig
Publicado em 2014

Neurologic syndrome associated with homozygous mutation at MAG sialic acid binding site

Por Roda, Ricardo H., FitzGibbon, Edmond J., Boucekkine, Houda, Schindler, Alice B., Blackstone, Craig
Publicado no Ann Clin Transl Neurol (2016)

Laing distal myopathy pathologically resembling inclusion body myositis

Por Roda, Ricardo H, Schindler, Alice B, Blackstone, Craig, Mammen, Andrew L, Corse, Andrea M, Lloyd, Thomas E
Publicado no Ann Clin Transl Neurol (2014)

A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

Por Vester, Aimee, Velez-Ruiz, Gisselle, McLaughlin, Heather M., Lupski, James R., Talbot, Kevin, Vance, Jeffery M., Züchner, Stephan, Roda, Ricardo H., Fischbeck, Kenneth H., Biesecker, Leslie G., Nicholson, Garth, Beg, Asim, Antonellis, Anthony
Publicado em 2012

Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease

Por Hirst, Jennifer, Edgar, James R., Esteves, Typhaine, Darios, Frédéric, Madeo, Marianna, Chang, Jaerak, Roda, Ricardo H., Dürr, Alexandra, Anheim, Mathieu, Gellera, Cinzia, Li, Jun, Züchner, Stephan, Mariotti, Caterina, Stevanin, Giovanni, Blackstone, Craig, Kruer, Michael C., Robinson, Margaret S.
Publicado no Hum Mol Genet (2015)

Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)

Por Hirst, Jennifer, Madeo, Marianna, Smets, Katrien, Edgar, James R., Schols, Ludger, Li, Jun, Yarrow, Anna, Deconinck, Tine, Baets, Jonathan, Van Aken, Elisabeth, De Bleecker, Jan, Datiles, Manuel B., Roda, Ricardo H., Liepert, Joachim, Züchner, Stephan, Mariotti, Caterina, De Jonghe, Peter, Blackstone, Craig, Kruer, Michael C.
Publicado no Neurol Genet (2016)