Nucleocytoplasmic transport defect in a North American patient with ALS8

Por Guber, Robert D., Schindler, Alice B., Budron, Maher S., Chen, Ke‐lian, Li, Yuebing, Fischbeck, Kenneth H., Grunseich, Christopher
Publicado no Ann Clin Transl Neurol (2018)

Systemic Delivery of MicroRNA Using Recombinant Adeno-associated Virus Serotype 9 to Treat Neuromuscular Diseases in Rodents

Por Pourshafie, Naemeh, Lee, Philip R., Chen, Ke-lian, Harmison, George G., Bott, Laura C., Fischbeck, Kenneth H., Rinaldi, Carlo
Publicado no J Vis Exp (2018)

Insulinlike Growth Factor (IGF)-1 Administration Ameliorates Disease Manifestations in a Mouse Model of Spinal and Bulbar Muscular Atrophy

Por Rinaldi, Carlo, Bott, Laura C, Chen, Ke-lian, Harmison, George G, Katsuno, Masahisa, Sobue, Gen, Pennuto, Maria, Fischbeck, Kenneth H
Publicado em 2012

MiR-298 Counteracts Mutant Androgen Receptor Toxicity in Spinal and Bulbar Muscular Atrophy

Por Pourshafie, Naemeh, Lee, Philip R, Chen, Ke-lian, Harmison, George G, Bott, Laura C, Katsuno, Masahisa, Sobue, Gen, Burnett, Barrington G, Fischbeck, Kenneth H, Rinaldi, Carlo
Publicado no Mol Ther (2016)

Stem cell-derived motor neurons from spinal and bulbar muscular atrophy patients

Por Grunseich, Christopher, Zukosky, Kristen, Kats, Ilona R., Ghosh, Laboni, Harmison, George G., Bott, Laura C., Rinaldi, Carlo, Chen, Ke-lian, Chen, Guibin, Boehm, Manfred, Fischbeck, Kenneth H.
Publicado em 2014

Peripheral neuropathy in a family with Sandhoff disease and SH3TC2 deficiency

Por Grunseich, Christopher, Schindler, Alice B., Chen, Ke-lian, Bakar, Dara, Mankodi, Ami, Traslavina, Ryan, Ray-Chaudhury, Abhik, Lehky, Tanya J., Baker, Eva H., Maragakis, Nicholas J., Tifft, Cynthia J., Fischbeck, Kenneth H.
Publicado no J Neurol (2015)

A small-molecule Nrf1 and Nrf2 activator mitigates polyglutamine toxicity in spinal and bulbar muscular atrophy

Por Bott, Laura C., Badders, Nisha M., Chen, Ke-lian, Harmison, George G., Bautista, Elaine, Shih, Charles C.-Y., Katsuno, Masahisa, Sobue, Gen, Taylor, J. Paul, Dantuma, Nico P., Fischbeck, Kenneth H., Rinaldi, Carlo
Publicado no Hum Mol Genet (2016)

A novel mutation in KIF5A in a Malian family with spastic paraplegia and sensory loss

Por Guinto, Cheick O., Diarra, Salimata, Diallo, Salimata, Cissé, Lassana, Coulibaly, Thomas, Diallo, Seybou H., Taméga, Abdoulaye, Chen, Ke‐Lian, Schindler, Alice B., Bagayoko, Koumba, Simaga, Assiatou, Blackstone, Craig, Fischbeck, Kenneth H., Landouré, Guida
Publicado no Ann Clin Transl Neurol (2017)

Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat

Por Grunseich, Christopher, Kats, Ilona R., Bott, Laura C., Rinaldi, Carlo, Kokkinis, Angela, Fox, Derrick, Chen, Ke-lian, Schindler, Alice B., Mankodi, Ami K., Shrader, Joseph A., Schwartz, Daniel P., Lehky, Tanya J., Liu, Chia-Ying, Fischbeck, Kenneth H.
Publicado no Neuromuscul Disord (2014)

Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia

Por Rinaldi, Carlo, Schmidt, Thomas, Situ, Alan J., Johnson, Janel O., Lee, Philip R., Chen, Ke-lian, Bott, Laura C., Fadó, Rut, Harmison, George H., Parodi, Sara, Grunseich, Christopher, Renvoisé, Benoît, Biesecker, Leslie G., De Michele, Giuseppe, Santorelli, Filippo M., Filla, Alessandro, Stevanin, Giovanni, Dürr, Alexandra, Brice, Alexis, Casals, Núria, Traynor, Bryan J., Blackstone, Craig, Ulmer, Tobias S., Fischbeck, Kenneth H.
Publicado no JAMA Neurol (2015)