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J

Jonas Alex Morales Saute

federal university of rio grande do sul

35H-index
232Paper Count
3.0KCitation Count
Published Papers 47
Publication Date
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Unbiased bioinformatic and clinical analysis identifies glial fibrillary acidic protein as a potential biomarker in spinal muscular atrophy
errBrain Communications
IF4.5
err2026-09-11
err0
errOAAI
errKarina Lúcia Soares de Oliveira; Arthur Carpeggiani Weber; Michele Michelin Becker; Juliana Silva de Almeida Magalhães; Ana Letícia Amorim de Albuquerque; Júlia Kersting Chadanowicz; Giovanna Câmara Giudicelli; Francieli Rohden; Eduardo Rigon Zimmer; Thayne Woycinck Kowalski; Marina Siebert; Marcela Câmara Machado Costa; Jonas Alex Morales Saute; null
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Clinical Characterization of Patients With 5q Spinal Muscular Atrophy Types 2 and 3 in Brazil: A Cross-Sectional Observational Study
errClinical Genetics
IF2.3
err2026-05-08
err0
errOAAI
errElice Carneiro Batista; Edmar Zanoteli; Henrique Andrade R. Fonseca; Graziela Jorge Polido; Jonas Alex Morales Saute; Adriana Banzzatto Ortega; Marcondes Cavalcante França Junior; Acary Souza Bulle Oliveira; Paulo Victor Sgobbi de Souza; Juliana Gurgel Giannetti; André Luiz Santos Pessoa; Alexandra Prufer de Queiroz Campos Araújo; Mário Fritsch Toros Neves; Raquel Tavares Boy da Silva; Frederico Monfardini; Gustavo Prado dos Santos; Bruna dos Santos Sampaio; Diogo Fagundes Moia; Fernando Galan Júnior; Luciana Pereira Almeida de Piano; Camila Santos Nascimento de Albuquerque; Flávia Miranda Duarte; Viviane Aparecida Rodrigues Sant’Anna; Mariane Pereira; Jomenica de Bortoli Livramento; Ronaldo Vicente Pereira Soares; Denison Alves Pedrosa; Vanessa Teich; Luiz Vicente Rizzo; Otávio Berwanger; João Brainer Clares de Andrade; Gisele Sampaio Silva
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Toward the establishment of best practice guidelines for human research in Genomic Medicine in Brazil
errGenetics and Molecular Biology
IF1.3
err2026-01-01
err0
PREAI
errLudwig, Fernanda Sperb; Artigalas, Osvaldo; Rodrigues, Nureyev Ferreira; Prolla, Patricia Ashton; Matte, Ursula Da Silveira; Saute, Jonas Alex Morales
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Limited sensitivity of somatosensory evoked potentials as disease monitoring biomarkers in hereditary spastic paraplegias
errPLOS ONE
IF2.6
err2025-11-11
err0
PREAI
errSpengler, Fernando Augusto Marion; Brighente, Samanta Ferraresi; Rodrigues Louzada, Ana Luiza; de Souza, Maria Eduarda Ribeiro; Bevilacqua, Isabela Possebon; Cubillos-Arcila, Diana Maria; Saute, Jonas Alex Morales
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Safety and tolerability of onasemnogene abeparvovec for patients with spinal muscular atrophy weighing ≤17 kg and ≤24 months old from OFELIA, a phase 4, open-label, multicenter, non-randomised, interventional study
errlancet regional health americas
IF0
err2025-07-28
err0
PREAI
errJonas Alex Saute; Javier Muntadas; Juliana Gurgel-Giannetti; Soledad Monges; Paula Aliberti; Rodrigo Holanda Mendonça; Iulian Alecu; Shannon Ritter; Janaina Martins de Lana; Nayla Mumneh; Edmar Zanoteli
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Clinical trials to gene therapy development and production in Brazil: a review
errLANCET REGIONAL HEALTH-AMERICAS
IF7.6
err2025-03-01
err0
PREAI
errSaute, Jonas Alex Morales; Picanco-Castro, Virginia; Lopes, Ana Carolina de Freitas; Junior, Joao Batista da Silva; Nehm, Johanna Henriques; Maciel, Franciele dos Santos; Schwartz, Ida Vanessa Doederlein; Sallum, Juliana Maria Ferraz; Ozelo, Margareth Castro; Giugliani, Roberto; Bonamino, Martin; Petrs-Silva, Hilda; Baldo, Guilherme
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An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants
errNATURE COMMUNICATIONS
IF15.7
err2025-02-05
err1
errOAAI
errNmezi, Bruce; Bey, Guillermo Rodriguez; Oranburg, Talia DeFrancesco; Dudnyk, Kseniia; Lardo, Santana M.; Herdman, Nathan; Jacko, Anastasia; Rubio, Sandy; Loeza-Alcocer, Emanuel; Kofler, Julia; Kim, Dongkyeong; Rankin, Julia; Kivuva, Emma; Gutowski, Nicholas; Schon, Katherine; van den Ameele, Jelle; Chinnery, Patrick F.; Sousa, Sergio B.; Palavra, Filipe; Toro, Camilo; Pinto e Vairo, Filippo; Saute, Jonas; Pan, Lisa; Alturkustani, Murad; Hammond, Robert; Gros-Louis, Francois; Gold, Michael S.; Bernard, Genevieve; Raininko, Raili; Zhou, Jian; Hainer, Sarah J.; Padiath, Quasar S.
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Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil
errJORNAL DE PEDIATRIA
IF2.5
err2025-01-01
err1
errOAAI
errde Albuquerque, Ana Leticia Amorim; Chadanowicz, Julia Kersting; Bevilacqua, Isabela Possebon; Staub, Ana Lucia Portella; Winckler, Pablo Brea; da Silva, Patricia Zambone; Fagondes, Simone Chaves; Ferrari, Renata Salatti; Trojahn, Claudia Denise de Oliveira; Sacharuk, Viviane Zechlinski; Kowalski, Thayne Woycinck; Donis, Karina Carvalho; Becker, Michele Michelin; Saute, Jonas Alex Morales
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Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2024-10-30
err2
errOAAI
errde Oliveira, Bibiana Mello; Bernardi, Filipe Andrade; Baiochi, Joao Francisco; Neiva, Mariane Barros; Artifon, Milena; Vergara, Alberto Andrade; Martins, Ana Maria; Grumach, Anete Sevciovic; Acosta, Angelina Xavier; El Husny, Antonette Souto; Ribeiro, Bethania de Freitas Rodrigues; Ramos, Camila Ferreira; Steiner, Carlos Eduardo; Kim, Chong Ae; Christofolini, Denise Maria; Yamada, Diego Bettiol; Carvalho, Ellaine Doris Fernandes; Ribeiro, Erlane Marques; Bastos, Fabiola de Arruda; Serpa, Faradiba Sarquis; Brandao, Flavia Reseda; Adjuto, Giselle Maria Araujo Felix; Carvalho, Isabelle; Saute, Jonas Alex Morales; Llerena Junior, Juan Clinton; Bueno, Larissa Souza Mario; da Silva, Luiz Carlos Santana; Santos, Mara Lucia Schmitz Ferreira; Costa, Marcela Camara Machado; Giusti, Marcia Maria Costa Giacon; Galera, Marcial Francis; Colombo Filho, Marcio Eloi; de Andrade, Maria Denise Fernandes Carvalho; Cardoso, Maria Teresinha De Oliveira; Ferreira, Marilaine Matos de Menezes; Zeny, Michelle; Caldato, Milena Coelho Fernandes; Sorte, Ney Boa; Musolino, Nina Rosa de Castro; de Medeiros, Paula Frassinetti Vasconcelos; Zen, Paulo Ricardo Gazzola; Da Silva, Raquel Tavares Boy; Maia, Rayana Elias; Fock, Rodrigo; Almeida, Rosemarie Elizabeth Schimidt; Valle, Solange Oliveira Rodrigues; Amorim, Tatiana; Teixeira, Thais Bomfim; Prazeres, Vania Mesquita Gadelha; Ferraz, Victor Evangelista de Faria; Lima, Vinicius Costa; Paiva, Wagner Jose Martins; Schwartz, Ida Vanessa Doederlein; Alves, Domingos; Felix, Temis Maria
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Evaluation of chenodeoxycholic acid treatment in adult patients with cerebrotendinous xanthomatosis: A randomized, placebocontrolled Phase 3 study (RESTORE)
errMOLECULAR GENETICS AND METABOLISM
IF3.5
err2024-04-01
err1
PREAI
errDeBarber, Andrea; Kisanuki, Yaz; Nobrega, Paulo; Himes, Ryan; Jayadev, Suman; Bernat, John; Prakash, Vikram; Gibson, James; Larson, Austin; Sgobbi, Paulo; Murphy, Edward; Fedor, Brian; Foo, Cheryl Wong Po; Dutta, Rana; Imperiale, Michael; Garner, Will; Vig, Pamela; Duell, P. Barton; Perez, Sarah; Ramdhani, Ritesh; Saute, Jonas
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errSave
Serum myostatin as a candidate disease severity and progression biomarker of spinal muscular atrophy
errBRAIN COMMUNICATIONS
IF4.5
err2024-02-28
err1
errOAAI
errde Albuquerque, Ana Leticia Amorim; Chadanowicz, Julia Kersting; Giudicelli, Giovanna Camara; Staub, Ana Lucia Portella; Weber, Arthur Carpeggiani; De Souza Silva, Jordana Miranda; Becker, Michele Michelin; Kowalski, Thayne Woycinck; Siebert, Marina; Saute, Jonas Alex Morales
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errSave
Characterization of the profile of patients with spinal muscular atrophy types 2 and 3 being followed up in the Brazilian public health system
errJOURNAL OF THE NEUROLOGICAL SCIENCES
IF3.2
err2023-12-01
err0
PREAI
errBatista, Elice; Zanoteli, Edmar; Junior, Marcondes; Ortega, Adriana; Saute, Jonas; Oliveira, Acary; De Souza, Paulo; Giannetti, Juliana; Pessoa, Andre; Prufer, Alexandra; Polido, Graziela; Neves, Mario; Da Silva, Raquel; Junior, Fernando; Duarte, Flavia; Machado, Felipe; Moia, Diogo; Soares, Ronaldo; Fonseca, Henrique; Silva, Gisele; Berwanger, Otavio
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Oral Dantrolene Reduces Myalgia and Hyperckemia in a Child with RYR1-Related Exertional Myalgia/Rhabdomyolysis
errJOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
err2023-09-28
err2
errOAAI
errde Lima Silva, Elis Vanessa; Donis, Karina Carvalho; Camara Machado, Fabiana Rita; Medeiros, Leonardo Simao; de Moura Aschoff, Carlos Alberto; Moura de Souza, Carolina Fischinger; Poswar, Fabiano de Oliveira; Morales Saute, Jonas Alex
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Long-term progression of clinician-reported and gait performance outcomes in hereditary spastic paraplegias
errFRONTIERS IN NEUROSCIENCE
IF3.2
err2023-09-22
err1
errOAAI
errCubillos Arcila, Diana Maria; Dariva Machado, Gustavo; Martins, Valeria Feijo; Leotti, Vanessa Bielefeldt; Schuele, Rebecca; Peyre-Tartaruga, Leonardo Alexandre; Saute, Jonas Alex Morales
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Estimated costs for Duchenne muscular dystrophy care in Brazil
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2023-06-22
err3
errOAAI
errSchneider, Naye Balzan; Roos, Erica Caetano; Staub, Ana Lucia Portella; Bevilacqua, Isabela Possebon; de Almeida, Ana Carolina; Martins, Tamie de Camargo; Ramos, Natalia Bergamelli; Loze, Priscilla; Saute, Jonas Alex Morales; Etges, Ana Paula Beck da Silva; Polanczyk, Carisi Anne
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Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability
errEMBO MOLECULAR MEDICINE
IF8.3
err2023-04-04
err9
errOAAI
errErdinc, Direnis; Rodriguez-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; Aschoff, Carlos A. de Moura; Saute, Jonas A. Morales; Kirby, Amelia J.; Toro, Camilo; Wolfe, Lynne; Novacic, Danica; Greenbaum, Lior; Eliyahu, Aviva; Barel, Ortal; Anikster, Yair; McFarland, Robert; Gorman, Grainne S.; Schaefer, Andrew M.; Gustafsson, Claes M.; Taylor, Robert W.; Falkenberg, Maria; Nicholls, Thomas J.
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SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins
errJOURNAL OF CLINICAL INVESTIGATION
IF13.6
err2022-09-15
err27
errOAAI
errLone, Museer A.; Aaltonen, Mari J.; Zidell, Aliza; Pedro, Helio F.; Saute, Jonas A. Morales; Mathew, Shalett; Mohassel, Payam; Bonnemann, Carsten G.; Shoubridge, Eric A.; Hornemann, Thorsten
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Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
errANNALS OF NEUROLOGY
IF7.7
err2022-05-28
err4
errOAAI
errCalame, Daniel G.; Herman, Isabella; Maroofian, Reza; Marshall, Aren E.; Donis, Karina Carvalho; Fatih, Jawid M.; Mitani, Tadahiro; Du, Haowei; Grochowski, Christopher M.; Sousa, Sergio B.; Gijavanekar, Charul; 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.; Bouman, Arjan; Barakat, Tahsin Stefan; Skidmore, David L.; Osmond, Matthew; Silva, Thiago Oliveira; Murphy, David; Karimiani, Ehsan Ghayoor; Jamshidi, Yalda; Jaddoa, Asaad Ghanim; Tajsharghi, Homa; Jin, Sheng Chih; Abbaszadegan, Mohammad Reza; Ebrahimzadeh-Vesal, Reza; Hosseini, Susan; Alavi, Shahryar; Bahreini, Amir; Zarean, Elahe; Salehi, Mohammad Mehdi; Al-Sannaa, Nouriya Abbas; Zifarelli, Giovanni; Bauer, Peter; Robson, Simon C.; 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.; Houlden, Henry; Vanderver, Adeline; Elsea, Sarah H.; Pehlivan, Davut; Marafi, Dana; Lupski, James R.
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Epidemiology of rare diseases in Brazil: protocol of the Brazilian Rare Diseases Network (RARAS-BRDN)
errORPHANET JOURNAL OF RARE DISEASES
IF3.5
err2022-02-24
err19
errOAAI
errFelix, Temis 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
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Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias
errSCIENTIFIC REPORTS
IF3.9
err2021-11-15
err13
errOAAI
errGiordani, Gabriela Marchisio; Diniz, Fabricio; Fussiger, Helena; Gonzalez-Salazar, Carelis; Donis, Karina Carvalho; Freua, Fernando; Magalhaes Ortega, Roberta Paiva; de Freitas, Julian Leticia; Povoas Barsottini, Orlando Graziani; Rosemberg, Sergio; Kok, Fernando; Pedroso, Jose Luiz; Franca Jr, Marcondes Cavalcante; Morales Saute, Jonas Alex
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Research Directions

The data has not been retrieved yet.
Co-authors
Cooperation Journals
R
Richard A. Gibbs
H-index: 190 · Papers: 1.3K
J
James R. Lupski
H-index: 144 · Papers: 1.1K
M
Mark A. Tarnopolsky
H-index: 129 · Papers: 890
P
Patrick F. Chinnery
H-index: 128 · Papers: 939
G
Giancarlo Logroscino
H-index: 124 · Papers: 765
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