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Published in The Journal of clinical investigation (15.09.2022)
Published in The Journal of clinical investigation (15.09.2022)
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Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and Recommendations
Perez‐Lloret, Santiago, Warrenburg, Bart, Rossi, Malco, Rodríguez‐Blázquez, Carmen, Zesiewicz, Theresa, Saute, Jonas A.M., Durr, Alexandra, Nishizawa, Masatoyo, Martinez‐Martin, Pablo, Stebbins, Glenn T., Schrag, Anette, Skorvanek, Matej
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Published in Movement disorders (01.02.2021)
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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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Clinicogenetic characterization of cerebrotendinous xanthomatosis in Brazil
Fussiger, Helena, Lima, Pedro Lucas G. S. B., Souza, Paulo V. S., Freua, Fernando, Husny, Antonette S. E., Leão, Emília K. E. A., Braga‐Neto, Pedro, Kok, Fernando, Lynch, David S., Saute, Jonas A. M., Nóbrega, Paulo R.
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Published in Clinical genetics (01.12.2024)
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Nonmotor and extracerebellar features in Machado-Joseph disease: A review
Pedroso, José Luiz, França Jr, Marcondes C., Braga-Neto, Pedro, D'Abreu, Anelyssa, Saraiva-Pereira, Maria Luiza, Saute, Jonas A., Teive, Hélio A., Caramelli, Paulo, Jardim, Laura Bannach, Lopes-Cendes, Iscia, Barsottini, Orlando Graziani P.
Published in Movement disorders (01.08.2013)
Published in Movement disorders (01.08.2013)
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Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy
Aartsma-Rus, Annemieke, Hegde, Madhuri, Ben-Omran, Tawfeg, Buccella, Filippo, Ferlini, Alessandra, Gallano, Pia, Howell, R. Rodney, Leturcq, France, Martin, Ann S., Potulska-Chromik, Anna, Saute, Jonas A., Schmidt, Wolfgang M., Sejersen, Thomas, Tuffery-Giraud, Sylvie, Uyguner, Zehra Oya, Witcomb, Luci A., Yau, Shu, Nelson, Stanley F.
Published in The Journal of pediatrics (01.01.2019)
Published in The Journal of pediatrics (01.01.2019)
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Clinical and molecular findings in a cohort of ANO5‐related myopathy
Silva, André M. S., Coimbra-Neto, Antônio R., Souza, Paulo Victor S., Winckler, Pablo B., Gonçalves, Marcus V. M., Cavalcanti, Eduardo B. U., Carvalho, Alzira A. D. S., Sobreira, Cláudia F. D. R., Camelo, Clara G., Mendonça, Rodrigo D. H., Estephan, Eduardo D. P., Reed, Umbertina C., Machado-Costa, Marcela C., Dourado-Junior, Mario E. T., Pereira, Vanessa C., Cruzeiro, Marcelo M., Helito, Paulo V. P., Aivazoglou, Laís U., Camargo, Leonardo V. D., Gomes, Hudson H., Camargo, Amaro J. S. D., Pinto, Wladimir B. V. D. R., Badia, Bruno M. L., Libardi, Luiz H., Yanagiura, Mario T., Oliveira, Acary S. B., Nucci, Anamarli, Saute, Jonas A. M., França-Junior, Marcondes C., Zanoteli, Edmar
Published in Annals of clinical and translational neurology (01.07.2019)
Published in Annals of clinical and translational neurology (01.07.2019)
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DNAJC6 mutations associated with early-onset Parkinson's disease
Olgiati, Simone, Quadri, Marialuisa, Fang, Mingyan, Rood, Janneke P.M.A, Saute, Jonas A, Chien, Hsin Fen, Bouwkamp, Christian G, Graafland, Josja, Minneboo, Michelle, Breedveld, Guido J, Zhang, Jianguo, Verheijen, Frans W, Mandemakers, Wim, Boon, Agnita J.W, Kievit, Anneke J.A, Jardim, Laura Bannach, Barbosa, Egberto Reis, Rieder, Carlos R.M, Leenders, Klaus L, Wang, Jun, Bonifati, Vincenzo
Published in Parkinsonism & related disorders (01.01.2016)
Published in Parkinsonism & related disorders (01.01.2016)
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DNAJC6 mutations associated with early-onset Parkinson's disease
Olgiati, Simone, Quadri, Marialuisa, Fang, Mingyan, Rood, Janneke P.M.A, Saute, Jonas A, Chien, Hsin Fen, Bouwkamp, Christian G, Graafland, Josja, Minneboo, Michelle, Breedveld, Guido J, Zhang, Jianguo, Verheijen, Frans W, Mandemakers, Wim, Boon, Agnita J.W, Kievit, Anneke J.A, Jardim, Laura Bannach, Barbosa, Egberto Reis, Rieder, Carlos R.M, Leenders, Klaus L, Wang, Jun, Bonifati, Vincenzo
Published in Parkinsonism & related disorders (01.01.2016)
Published in Parkinsonism & related disorders (01.01.2016)
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Clinical Scales Predict Significant Videofluoroscopic Dysphagia in Machado Joseph Disease Patients
Russo, Aline D., Reckziegel, Estela R., Krum‐Santos, Ana C., Augustin, Marina C., Scheeren, Betina, Freitas, Carine D., Torman, Vanessa L., Saraiva‐Pereira, Maria‐Luiza, Saute, Jonas A., Jardim, Laura B.
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.09.2015)
Published in Movement disorders clinical practice (Hoboken, N.J.) (01.09.2015)
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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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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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Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)
Félix, Têmis Maria, de Oliveira, Bibiana Mello, Artifon, Milena, Carvalho, Isabelle, Bernardi, Filipe Andrade, Schwartz, Ida V D, Saute, Jonas A, Ferraz, Victor E F, Acosta, Angelina X, Sorte, Ney Boa, Alves, Domingos
Published in Orphanet journal of rare diseases (24.02.2022)
Published in Orphanet journal of rare diseases (24.02.2022)
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Clinicogenetic lessons from 370 patients with autosomal recessive limb‐girdle muscular dystrophy
Winckler, Pablo B., Silva, André M.S., Coimbra‐Neto, Antônio R., Carvalho, Elmano, Cavalcanti, Eduardo B.U., Sobreira, Cláudia F.R., Marrone, Carlo D., Machado‐Costa, Marcela C., Carvalho, Alzira A.S., Feio, Raimunda H.F., Rodrigues, Cleonísio L., Gonçalves, Marcus V.M., Tenório, Renata B., Mendonça, Rodrigo H., Cotta, Ana, Paim, Júlia F.O., Costa e Silva, Cynthia, Aquino Cruz, Camila, Bená, Marjory I., Betancur, Daniel F.A., El Husny, Antonette S., Souza, Isabel C.N., Duarte, Regina C.B., Reed, Umbertina C., Chaves, Márcia L.F., Zanoteli, Edmar, França, Marcondes C., Saute, Jonas A.
Published in Clinical genetics (01.10.2019)
Published in Clinical genetics (01.10.2019)
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D NAJC 6 M utations A ssociated W ith E arly‐ O nset P arkinson's D isease
Olgiati, Simone, Quadri, Marialuisa, Fang, Mingyan, Rood, Janneke P.M.A., Saute, Jonas A., Chien, Hsin Fen, Bouwkamp, Christian G., Graafland, Josja, Minneboo, Michelle, Breedveld, Guido J., Zhang, Jianguo, Verheijen, Frans W., Boon, Agnita J.W., Kievit, Anneke J.A., Jardim, Laura Bannach, Mandemakers, Wim, Barbosa, Egberto Reis, Rieder, Carlos R.M., Leenders, Klaus L., Wang, Jun, Bonifati, Vincenzo
Published in Annals of neurology (01.02.2016)
Published in Annals of neurology (01.02.2016)
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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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