The polyglutamine-expanded androgen receptor has increased DNA binding and reduced transcriptional activity

por Belikov, Sergey, Bott, Laura C., Fischbeck, Kenneth H., Wrange, Örjan
Publicado 2015

Mitochondrial abnormalities in spinal and bulbar muscular atrophy

por Ranganathan, Srikanth, Harmison, George G., Meyertholen, Kristin, Pennuto, Maria, Burnett, Barrington G., Fischbeck, Kenneth H.
Publicado 2009

Upper arm and cardiac magnetic resonance imaging in Duchenne muscular dystrophy

por Gaur, Lasya, Hanna, Alexander, Bandettini, W. Patricia, Fischbeck, Kenneth H., Arai, Andrew E., Mankodi, Ami
Publicado 2016

Nonalcoholic Fatty Liver Disease in Patients with Inherited and Sporadic Motor Neuron Degeneration

por Johnson, Brian, Kokkinis, Angela, Gai, Neville, Shamim, Ejaz A., Blackstone, Craig, Fischbeck, Kenneth H., Grunseich, Christopher
Publicado 2022

The polyglutamine-expanded androgen receptor responsible for spinal and bulbar muscular atrophy inhibits the APC/C(Cdh1) ubiquitin ligase complex

por Bott, Laura C., Salomons, Florian A., Maric, Dragan, Liu, Yuhong, Merry, Diane, Fischbeck, Kenneth H., Dantuma, Nico P.
Publicado 2016

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 2018

A novel cell immunoassay to measure survival of motor neurons protein in blood cells

por Kolb, Stephen J, Gubitz, Amelie K, Olszewski, Robert F, Ottinger, Elizabeth, Sumner, Charlotte J, Fischbeck, Kenneth H, Dreyfuss, Gideon
Publicado 2006

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 2018

Exercise Intervention Leads to Functional Improvement in a Patient with Spinal and Bulbar Muscular Atrophy

por Compo, Joanne, Joseph, Jamell, Shieh, Vincent, Kokkinis, Angela D., Acevedo, Ana, Fischbeck, Kenneth H., Grunseich, Christopher, Shrader, Joseph A.
Publicado 2020

SAFETY AND TOLERABILITY OF STRENGTH TRAINING IN SPINAL AND BULBAR MUSCULAR ATROPHY: A CASE REPORT

por SHIEH, VINCENT, ZAMPIERI, CRIS, STOUT, PAUL, JOE, GALEN O., KOKKINIS, ANGELA, FISCHBECK, KENNETH H., GRUNSEICH, CHRISTOPHER, SHRADER, JOSEPH A.
Publicado 2022

The E3 ubiquitin ligase mind bomb 1 ubiquitinates and promotes the degradation of survival of motor neuron protein

por Kwon, Deborah Y., Dimitriadi, Maria, Terzic, Barbara, Cable, Casey, Hart, Anne C., Chitnis, Ajay, Fischbeck, Kenneth H., Burnett, Barrington G.
Publicado 2013

Patient‐identified impact of symptoms in spinal and bulbar muscular atrophy

por Guber, Robert D., Kokkinis, Angela D., Schindler, Alice B., Bendixen, Roxanna M., Heatwole, Chad R., Fischbeck, Kenneth H., Grunseich, Christopher
Publicado 2017

Genetics and genomic medicine in Mali: challenges and future perspectives

por Landouré, Guida, Samassékou, Oumar, Traoré, Mahamadou, Meilleur, Katherine G., Guinto, Cheick Oumar, Burnett, Barrington G., Sumner, Charlotte J., Fischbeck, Kenneth H.
Publicado 2016

Clinical and Molecular Aspects of Senataxin Mutations in Amyotrophic Lateral Sclerosis 4

por Grunseich, Christopher, Patankar, Aneesh, Amaya, Joshua, Watts, Jason A., Li, Dongjun, Ramirez, Prisila, Schindler, Alice B., Fischbeck, Kenneth H., Cheung, Vivian G.
Publicado 2020

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 2016

Dynamic Balance in Spinal and Bulbar Muscular Atrophy: Relationship between Strength and Performance of Forward Lunge, Step Up and Over, and Step Quick Turn

por Shrader, Joseph A., Sansare, Ashwini, Shieh, Vincent, Woolstenhulme, Joshua G., Rekant, Julie, Jiménez-Silva, Rafael, Joe, Galen O., Kokkinis, Angela, Fischbeck, Kenneth H., Grunseich, Christopher, Zampieri, Cristiane
Publicado 2021

A high-throughput genome-wide RNAi screen identifies modifiers of survival motor neuron protein

por McCormack, Nikki M., Abera, Mahlet B., Arnold, Eveline S., Gibbs, Rebecca M., Martin, Scott E., Buehler, Eugen, Chen, Yu-Chi, Chen, Lu, Fischbeck, Kenneth H., Burnett, Barrington G.
Publicado 2021

Respiratory magnetic resonance imaging biomarkers in Duchenne muscular dystrophy

por Mankodi, Ami, Kovacs, William, Norato, Gina, Hsieh, Nathan, Bandettini, W. Patricia, Bishop, Courtney A., Shimellis, Hirity, Newbould, Rexford D., Kim, Eunhee, Fischbeck, Kenneth H., Arai, Andrew E., Yao, Jianhua
Publicado 2017

Targeting the 5′ untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy

por Winkelsas, Audrey M., Grunseich, Christopher, Harmison, George G., Chwalenia, Katarzyna, Rinaldi, Carlo, Hammond, Suzan M., Johnson, Kory, Bowerman, Melissa, Arya, Sukrat, Talbot, Kevin, Wood, Matthew J., Fischbeck, Kenneth H.
Publicado 2021

Charcot-Marie-Tooth–Linked Mutant GARS Is Toxic to Peripheral Neurons Independent of Wild-Type GARS Levels

por Motley, William W., Seburn, Kevin L., Nawaz, Mir Hussain, Miers, Kathy E., Cheng, Jun, Antonellis, Anthony, Green, Eric D., Talbot, Kevin, Yang, Xiang-Lei, Fischbeck, Kenneth H., Burgess, Robert W.
Publicado 2011