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J

Jonas Alex Morales Saute

federal university of rio grande do sul
H指数:35
被引数:3,009

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Unbiased bioinformatic and clinical analysis identifies glial fibrillary acidic protein as a potential biomarker in spinal muscular atrophy

无偏生物信息学和临床分析鉴定胶质纤维酸性蛋白为脊髓性肌萎缩症的潜在生物标志物

Brain Communications
IF4.5
2026-09-110
OAAI
Karina 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
Clinical Characterization of Patients With 5q Spinal Muscular Atrophy Types 2 and 3 in Brazil: A Cross-Sectional Observational Study

巴西5q型脊髓性肌萎缩症2型和3型患者的临床特征：一项横断面观察研究

Clinical Genetics
IF2.3
2026-05-080
OA
Elice 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
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

来自OFELIA（一项第4期、开放标签、多中心、非随机化、干预性研究）的数据显示，onasemnogene abeparvovec在体重≤17 kg且年龄≤24个月的脊髓性肌萎缩症患儿中的安全性与耐受性。

lancet regional health americas
IF0
2025-07-280
PRE
Jonas 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
An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants

一种少突胶质细胞沉默子元件构成了层粘连蛋白B1结构变异的致病性影响

NATURE COMMUNICATIONS
IF15.7
2025-02-051
OA
Nmezi, 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.
Clinicogenetic characterization and response to disease-modifying therapies in spinal muscular atrophy: real-world experience from a reference center in Southern Brazil

临床遗传学特征及对疾病修饰疗法的应答在脊髓性肌萎缩症中的研究：来自南巴西一家参考中心的真实世界经验

JORNAL DE PEDIATRIA
IF2.5
2025-01-011
OAAI
de 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
Epidemiological characterization of rare diseases in Brazil: A retrospective study of the Brazilian Rare Diseases Network

巴西罕见病的流行病学特征：巴西罕见病网络的回顾性研究

ORPHANET JOURNAL OF RARE DISEASES
IF3.5
2024-10-302
OAAI
de 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
Evaluation of chenodeoxycholic acid treatment in adult patients with cerebrotendinous xanthomatosis: A randomized, placebocontrolled Phase 3 study (RESTORE)

评估鹅去氧胆酸治疗成年脑腱黄瘤病患者: 一项随机，安慰剂对照的3期研究 (RESTORE)

MOLECULAR GENETICS AND METABOLISM
IF3.5
2024-04-011
PRE
DeBarber, 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
Serum myostatin as a candidate disease severity and progression biomarker of spinal muscular atrophy

血清肌肉生长抑制素作为脊髓性肌萎缩症的候选疾病严重程度和进展生物标志物

BRAIN COMMUNICATIONS
IF4.5
2024-02-281
OAAI
de 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
Characterization of the profile of patients with spinal muscular atrophy types 2 and 3 being followed up in the Brazilian public health system
JOURNAL OF THE NEUROLOGICAL SCIENCES
IF3.2
2023-12-010
PRE
Batista, 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
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability
EMBO MOLECULAR MEDICINE
IF8.3
2023-04-049
OAAI
Erdinc, 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.
Biallelic Variants in the Ectonucleotidase ENTPD1 Cause a Complex Neurodevelopmental Disorder with Intellectual Disability, Distinct White Matter Abnormalities, and Spastic Paraplegia
ANNALS OF NEUROLOGY
IF7.7
2022-05-284
OA
Calame, 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.
Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias
SCIENTIFIC REPORTS
IF3.9
2021-11-1513
OAAI
Giordani, 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

研究方向

暂未获取到该数据
L
Laura Bannach Jardim
H 指数:39论文数:330被引数:5,539
K
Karina Carvalho Donis
H 指数:19论文数:99被引数:968
M
Maria Luiza Saraiva Pereira
H 指数:29论文数:360被引数:2,820
M
Marcondes C. França
H 指数:40论文数:510被引数:5,591
D
Diogo O. Souza
H 指数:74论文数:1,022被引数:2.3万
L
Luis Valmor Portela
H 指数:44论文数:249被引数:6,342
E
Edmar Zanoteli
H 指数:36论文数:360被引数:4,130
A
Acary Souza Bullé Oliveira
H 指数:35论文数:495被引数:5,269
C
Carlos Roberto de Mello Rieder
H 指数:38论文数:289被引数:4,842
F
Filippo Pinto e Vairo
H 指数:29论文数:293被引数:2,938