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M. Cabrera-Serrano

Acta Neuropathologica Communications, Human Molecular Genetics, EMBO Molecular Medicine, Brain : a journal of neurology, Neurology: Neuroimmunology & Neuroinflammation, Annals of Clinical and Translational Neurology, Acta Neuropathologica Show more
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Role
Title
Level Year L/R
🐜 LRP4 third β-propeller domain mutations cause novel congenital myasthenia by compromising agrin-mediated MuSK signaling in a position-specific manner.
11 auth. B. Ohkawara, M. Cabrera-Serrano, T. Nakata, M. Milone, N. Asai, Kenyu Ito, ... Mikako Ito, A. Masuda, Yasutomo Ito, A. Engel, K. Ohno 		6 2014
6
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🐜 A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss
24 auth. E. Servian-Morilla, H. Takeuchi, Tom V. Lee, J. Clarimón, F. Mavillard, E. Area-Gomez, E. Rivas, J. Nieto-Gonzalez, M. Rivero, M. Cabrera-Serrano, ... L. Gomez-Sanchez, J. A. Martínez-López, B. Estrada, C. Márquez, Y. Morgado, X. Suárez-Calvet, G. Pita, A. Bigot, E. Gallardo, R. Fernández-Chacón, M. Hirano, R. Haltiwanger, H. Jafar-Nejad, C. Paradas 		6 2016
6
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🦁 Expanding the phenotype of GMPPB mutations.
17 auth. M. Cabrera-Serrano, R. Ghaoui, G. Ravenscroft, R. Johnsen, M. Davis, A. Corbett, S. Reddel, C. Sue, C. Liang, L. Waddell, ... S. Kaur, M. Lek, K. North, D. MacArthur, P. Lamont, N. Clarke, N. Laing 		5 2015
5
🦁
🐜 Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy
43 auth. L. Martín-Aguilar, C. Lleixà, E. Pascual-Goñi, M. Caballero-Ávila, L. Martínez-Martínez, J. Díaz-Manera, R. Rojas‐García, Elena Cortés‐Vicente, J. Turon-Sans, N. de Luna, X. Suárez-Calvet, E. Gallardo, Y. Rajabally, S. Scotton, B. Jacobs, ... A. Baars, A. Cortese, E. Vegezzi, R. Höftberger, F. Zimprich, Cornelia Roesler, E. Nobile‐Orazio, G. Liberatore, F. Hiew, A. Martinez‐Piñeiro, A. Carvajal, Raquel Piñar-Morales, M. Usón-Martín, Olalla Albertí, M. A. López-Pérez, F. Márquez, J. Pardo-Fernández, Laura Muñoz-Delgado, M. Cabrera-Serrano, Nicolau Ortiz, M. Bartolomé, Ö. Duman, V. Bril, Darwin Segura-Chávez, K. Pitarokoili, C. Steen, I. Illa, L. Querol 		5 2021
5
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🐜 Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience
20 auth. S. Beecroft, K. Yau, R. Allcock, K. Mina, R. Gooding, Fathimath Faiz, V. Atkinson, C. Wise, P. Sivadorai, D. Trajanoski, ... N. Kresoje, R. Ong, R. Duff, M. Cabrera-Serrano, K. Nowak, N. Pachter, G. Ravenscroft, P. Lamont, M. Davis, N. Laing 		5 2020
5
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🐜 POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern
27 auth. E. Servian-Morilla, M. Cabrera-Serrano, Katherine Johnson, Ashutosh N. Pandey, Atsuko Ito, E. Rivas, T. Chamova, N. Muelas, T. Mongini, S. Nafissi, K. Claeys, R. Grewal, M. Takeuchi, H. Hao, Carsten G. Bönnemann, ... O. L. A. Neto, L. Medne, John F. Brandsema, A. Töpf, A. Taneva, J. Vílchez, I. Tournev, R. Haltiwanger, H. Takeuchi, H. Jafar-Nejad, Volker Straub, C. Paradas 		4 2020
4
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🐜 Altered myogenesis and premature senescence underlie human TRIM32-related myopathy
20 auth. E. Servian-Morilla, M. Cabrera-Serrano, M. Cabrera-Serrano, E. Rivas-Infante, E. Rivas-Infante, A. Carvajal, P. Lamont, A. Pelayo-Negro, G. Ravenscroft, R. Junckerstorff, ... J. Dyke, S. Fletcher, S. Fletcher, A. Adams, A. Adams, F. Mavillard, M. Fernandez-Garcia, J. Nieto-Gonzalez, N. Laing, C. Paradas 		4 2019
4
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🐜 Altered myogenesis and premature senescence underlie human TRIM32-related myopathy
20 auth. E. Servian-Morilla, M. Cabrera-Serrano, M. Cabrera-Serrano, E. Rivas-Infante, E. Rivas-Infante, A. Carvajal, P. Lamont, A. Pelayo-Negro, G. Ravenscroft, R. Junckerstorff, ... J. Dyke, S. Fletcher, S. Fletcher, A. Adams, A. Adams, F. Mavillard, M. Fernandez-Garcia, J. Nieto-Gonzalez, N. Laing, C. Paradas 		4 2019
4
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