SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins
Lone, Museer A, Aaltonen, Mari J, Zidell, Aliza, Pedro, Helio F, Morales Saute, Jonas A, Mathew, Shalett, Mohassel, Payam, Bönnemann, Carsten G, Shoubridge, Eric A, Hornemann, Thorsten
Published in The Journal of clinical investigation (15.09.2022)
Published in The Journal of clinical investigation (15.09.2022)
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Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome
Cardoso-dos-Santos, Augusto C., Oliveira Silva, Thiago, Silveira Faccini, Anderson, Woycinck Kowalski, Thayne, Bertoli-Avella, Aida, Morales Saute, Jonas A., Schuler-Faccini, Lavinia, de Oliveira Poswar, Fabiano
Published in Molecular syndromology (01.02.2020)
Published in Molecular syndromology (01.02.2020)
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SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins
Lone, Museer A, Aaltonen, Mari J, Zidell, Aliza, Pedro, Helio F, Saute, Jonas A Morales, Mathew, Shalett, Mohassel, Payam, Bönnemann, Carsten G, Shoubridge, Eric A, Hornemann, Thorsten
Published in The Journal of clinical investigation (01.09.2022)
Published in The Journal of clinical investigation (01.09.2022)
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Journal Article
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability
Erdinc, Direnis, Rodríguez‐Luis, Alejandro, Fassad, Mahmoud R, Mackenzie, Sarah, Watson, Christopher M, Valenzuela, Sebastian, Xie, Xie, Menger, Katja E, Sergeant, Kate, Craig, Kate, Hopton, Sila, Falkous, Gavin, Poulton, Joanna, Garcia‐Moreno, Hector, Giunti, Paola, de Moura Aschoff, Carlos A, Morales Saute, Jonas A, Kirby, Amelia J, Toro, Camilo, Wolfe, Lynne, Novacic, Danica, Greenbaum, Lior, Eliyahu, Aviva, Barel, Ortal, Anikster, Yair, McFarland, Robert, Gorman, Gráinne S, Schaefer, Andrew M, Gustafsson, Claes M, Taylor, Robert W, Falkenberg, Maria, Nicholls, Thomas J
Published in EMBO molecular medicine (08.05.2023)
Published in EMBO molecular medicine (08.05.2023)
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Biallelic variants in the ectonucleotidase ENTPD1 cause a complex neurodevelopmental disorder with intellectual disability, hypomyelination, and spastic paraplegia
Calame, Daniel G., Herman, Isabella, Marshall, Aren E., Maroofian, Reza, Donis, Karina Carvalho, Fatih, Jawid M., Mitani, Tadahiro, Du, Haowei, Grochowski, Christopher M., Sousa, Sergio, Bakhtiari, Somayeh, Ito, Yoko A., Rocca, Clarissa, Hunter, Jill V., Sutton, V. Reid, Emrick, Lisa T., Boycott, Kym M., Lossos, Alexander, Fellig, Yakov, Prus, Eugenia, Kalish, Yosef, Meiner, Vardiella, Suerink, Manon, Ruivenkamp, Claudia, Muirhead, Kayla, Saadi, Nebal W., Zaki, Maha S., Skidmore, David L., Osmond, Matthew, Silva, Thiago Oliveira, Houlden, Henry, Murphy, David, Ghayoorarimiani, Ehsan, Jamshidi, Yalda, Jaddoa, Asaad Ghanim, Tajsharghi, Homa, Jin, Sheng Chih, Coban-Akdemir, Zeynep, Travaglini, Lorena, Nicita, Francesco, Jhangiani, Shalini N., Gibbs, Richard A., Posey, Jennifer E., Kruer, Michael C., Kernohan, Kristin D., Morales Saute, Jonas A., Vanderver, Adeline, Pehlivan, Davut, Marafi, Dana, Lupski, James R.
Published in Annals of neurology (28.05.2022)
Published in Annals of neurology (28.05.2022)
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