Respiratory chain deficiency in nonmitochondrial disease.

by Pyle, Angela, Nightingale, Helen J, Griffin, Helen, Abicht, Angela, Kirschner, Janbernd, Baric, Ivo, Cuk, Mario, Douroudis, Konstantinos, Feder, Lea, Kratz, Markus, Czermin, Birgit, Kleinle, Stephanie, Santibanez-Koref, Mauro, Karcagi, Veronika, Holinski-Feder, Elke, Chinnery, Patrick F, Horvath, Rita
Published 2019

A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies.

by Bartsakoulia, Marina, Pyle, Angela, Troncoso-Chandía, Diego, Vial-Brizzi, Josefa, Paz-Fiblas, Marysol V, Duff, Jennifer, Griffin, Helen, Boczonadi, Veronika, Lochmüller, Hanns, Kleinle, Stephanie, Chinnery, Patrick F, Grünert, Sarah, Kirschner, Janbernd, Eisner, Verónica, Horvath, Rita
Published 2018

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant

by Balaraju, Sunitha, Töpf, Ana, McMacken, Grace, Kumar, Veeramani Preethish, Pechmann, Astrid, Roper, Helen, Vengalil, Seena, Polavarapu, Kiran, Nashi, Saraswati, Mahajan, Niranjan Prakash, Barbosa, Ines A., Deshpande, Charu, Taylor, Robert W., Cossins, Judith, Beeson, David, Laurie, Steven, Kirschner, Janbernd, Horvath, Rita, McFarland, Robert, Nalini, Atchayaram, Lochmüller, Hanns
Published 2020

Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant.

by Balaraju, Sunitha, Töpf, Ana, McMacken, Grace, Kumar, Veeramani Preethish, Pechmann, Astrid, Roper, Helen, Vengalil, Seena, Polavarapu, Kiran, Nashi, Saraswati, Mahajan, Niranjan Prakash, Barbosa, Ines A, Deshpande, Charu, Taylor, Robert W, Cossins, Judith, Beeson, David, Laurie, Steven, Kirschner, Janbernd, Horvath, Rita, McFarland, Robert, Atchayaram, Nalini, Lochmüller, Hanns
Published 2019

Prion-like domain mutations in hnRNPs cause multisystem proteinopathy and ALS

by Kim, Hong Joo, Kim, Nam Chul, Wang, Yong-Dong, Scarborough, Emily A., Moore, Jennifer, Diaz, Zamia, MacLea, Kyle S., Freibaum, Brian, Li, Songqing, Molliex, Amandine, Kanagaraj, Anderson P., Carter, Robert, Boylan, Kevin B., Wojtas, Aleksandra M., Rademakers, Rosa, Pinkus, Jack L., Greenberg, Steven A., Trojanowski, John Q., Traynor, Bryan J., Smith, Bradley N., Topp, Simon, Gkazi, Athina-Soragia, Miller, Jack, Shaw, Christopher E., Kottlors, Michael, Kirschner, Janbernd, Pestronk, Alan, Li, Yun R., Ford, Alice Flynn, Gitler, Aaron D., Benatar, Michael, King, Oliver D., Kimonis, Virginia E., Ross, Eric D., Weihl, Conrad C., Shorter, James, Taylor, J. Paul
Published 2014

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.

by Kim, Hong Joo, Kim, Nam Chul, Wang, Yong-Dong, Scarborough, Emily A, Moore, Jennifer, Diaz, Zamia, MacLea, Kyle S, Freibaum, Brian, Li, Songqing, Molliex, Amandine, Kanagaraj, Anderson P, Carter, Robert, Boylan, Kevin B, Wojtas, Aleksandra M, Rademakers, Rosa, Pinkus, Jack L, Greenberg, Steven A, Trojanowski, John Q, Traynor, Bryan J, Smith, Bradley N, Topp, Simon, Gkazi, Athina-Soragia, Miller, Jack, Shaw, Christopher E, Kottlors, Michael, Kirschner, Janbernd, Pestronk, Alan, Li, Yun R, Ford, Alice Flynn, Gitler, Aaron D, Benatar, Michael, King, Oliver D, Kimonis, Virginia E, Ross, Eric D, Weihl, Conrad C, Shorter, James, Taylor, J Paul
Published 2013

Clinical presentation and proteomic signature of patients with TANGO2 mutations.

by Mingirulli, Nadja, Pyle, Angela, Hathazi, Denisa, Alston, Charlotte L, Kohlschmidt, Nicolai, O'Grady, Gina, Waddell, Leigh, Evesson, Frances, Cooper, Sandra BT, Turner, Christian, Duff, Jennifer, Topf, Ana, Yubero, Delia, Jou, Cristina, Nascimento, Andrés, Ortez, Carlos, García-Cazorla, Angels, Gross, Claudia, O'Callaghan, Maria, Santra, Saikat, Preece, Maryanne A, Champion, Michael, Korenev, Sergei, Chronopoulou, Efsthatia, Anirban, Majumdar, Pierre, Germaine, McArthur, Daniel, Thompson, Kyle, Navas, Placido, Ribes, Antonia, Tort, Frederic, Schlüter, Agatha, Pujol, Aurora, Montero, Raquel, Sarquella, Georgia, Lochmüller, Hanns, Jiménez-Mallebrera, Cecilia, Taylor, Robert W, Artuch, Rafael, Kirschner, Janbernd, Grünert, Sarah C, Roos, Andreas, Horvath, Rita
Published 2019