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J

Juliana Gurgel-Giannetti

Universidade Federal de Minas Gerais
H指数:20
被引数:1,616

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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

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
Thrombotic microangiopathy following gene therapy for 5q-spinal muscular atrophy

基因疗法治疗5q-脊髓性肌萎缩症后的血栓性微血管病

Gene Therapy
IF4.5
2025-06-190
PRE
Clara Gontijo Camelo; Rodrigo Holanda Mendonça; Cristiane Araújo Martins Moreno; Juliana Caires Oliveira Achili Ferreira; Adriana Banzzatto Ortega; Vanessa van der Linden; Rejane Souza Macedo Campos; Helio van der Linden; Natalia Spinola Costa da Cunha; Juliana Gurgel-Giannetti; Janaina Monteiro Chaves; Silvana Maria Carvalho Miranda; Andreas Ziegler; Edmar Zanoteli
Clinical and molecular spectrum of TK2-deficiency: a large Brazilian cohort

TK2-deficiency的临床和分子谱: 一个大型巴西队列

SCIENTIFIC REPORTS
IF3.9
2025-03-150
OAAI
Moreno, Cristiane Araujo Martins; Artilheiro, Mariana Cunha; Fonseca, Alulin Tacio Quadros Santos Monteiro; da Silva, Andre Macedo Serafim; Fernandes, Tatiana Ribeiro; Camelo, Clara Gontijo; Paiva, Michelle Abdo; di Pace, Filipe Tupinamba; Pessoa, Andre Luiz Santos; Braga, Vitor Lucas Lopes; Mariano, Tamiris Carneiro; de Paula Estephan, Eduardo; da Penha Morita, Maria; Covaleski, Anna Paula Paranhos Miranda; van der Linden, Vanessa; Tomaselli, Pedro Jose; Scarpellini, Giuliano Roberto; Gurgel-Giannetti, Juliana; Sobrinho, Livia Maria Ferreira; de Oliveira, Thais Martins; Mendonca, Rodrigo Holanda; Lucas, Elizabeth Lemos Silveira; Cruzeiro, Marcelo Maroco; Junior, Carlos Wagner Pereira; Junior, Wilson Marques; Sobreira, Claudia Ferreira da Rosa; Oliveira, Acary Sousa Bulle; Kok, Fernando; Hirano, Michio; Nascimento-Osorio, Andres; Schlesinger, David; Zanoteli, Edmar
Spinal muscular atrophy in Latin American: Patient journey observed in regional registry
JOURNAL OF THE NEUROLOGICAL SCIENCES
IF3.2
2023-12-010
PRE
Batista, Elice; Zanoteli, Edmar; Costa, Marcela; Obando, Fernando; Carrillo, Manuela; Toledo, Claudia; Pereira, Jaqueline; Prufer, Alexandra; Jauregui, Agustin; Linzoain, Javier Eduardo; Junior, Marcondes; Acevedo, Graciela; Giannetti, Juliana; Ortega, Adriana; Monges, Maria; Rausei, Javier; Martin, Andres; Meza, Maria; Perez, Eduardo; De Piano, Luciana; De Pedri, Ewerton; Milantoni, Wilson; Pedro, Izabela; De Albuquerque, Camila; Moia, Diogo; Anna, Viviane Sant; Carioca, Ana Carla; Junior, Fernando; Sampaio, Bruna; Monfardini, Frederico; Liuboschitz, Pablo; Liuboschitz, Sofia; Vazquez, Daniel; Vazquez, Martina; Duarte, Flavia; Machado, Felipe; Soares, Ronaldo; Fonseca, Henrique; Silva, Gisele; Berwanger, Otavio; Rizzo, Luiz
Spinal muscular atrophy in Latin American: The registrame clinical registry
JOURNAL OF THE NEUROLOGICAL SCIENCES
IF3.2
2023-12-010
PRE
Batista, Elice; Zanoteli, Edmar; Costa, Marcela; Obando, Fernando; Carrillo, Manuela; Toledo, Claudia; Pereira, Jaqueline; Prufer, Alexandra; Jauregui, Agustin; Linzoain, Javier Eduardo; Junior, Marcondes; Acevedo, Graciela; Giannetti, Juliana; Ortega, Adriana; Monges, Maria; Rausei, Javier; Martin, Andres; Meza, Maria; Perez, Eduardo; De Piano, Luciana; De Pedri, Ewerton; Milantoni, Wilson; Pedro, Izabela; De Albuquerque, Camila; Moia, Diogo; Anna, Viviane Sant; Carioca, Ana Carla; Junior, Fernando; Sampaio, Bruna; Monfardini, Frederico; Liuboschitz, Pablo; Liuboschitz, Sofia; Vazquez, Daniel; Vazquez, Martina; Duarte, Flavia; Machado, Felipe; Soares, Ronaldo; Fonseca, Henrique; Silva, Gisele; Berwanger, Otavio; Rizzo, Luiz
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
DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results

致力于探索高剂量Nusinersen治疗脊髓性肌萎缩症的研究: 研究设计和A部分结果

JOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
2023-01-017
PRE
Finkel, Richard S.; Day, John W.; Pascual Pascual, Samuel Ignacio; Ryan, Monique M.; Mercuri, Eugenio; De Vivo, Darryl C.; Montes, Jacqueline; Gurgel-Giannetti, Juliana; Monine, Michael; Gambino, Giulia; Makepeace, Corinne; Foster, Richard; Berger, Zdenek
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications

CLDN5的变异引起以癫痫、小头畸形和脑钙化为特征的综合征

BRAIN
IF11.7
2022-12-089
OA
Deshwar, Ashish R.; Cytrynbaum, Cheryl; Murthy, Harsha; Zon, Jessica; Chitayat, David; Volpatti, Jonathan; Newbury-Ecob, Ruth; Ellard, Sian; Allen, Hana Lango; Yu, Emily P.; Noche, Ramil; Walker, Suzi; Scherer, Stephen W.; Mahida, Sonal; Elitt, Christopher M.; Nicolas, Gael; Goldenberg, Alice; Saugier-Veber, Pascale; Lecoquierre, Francois; Dabaj, Ivana; Meddaugh, Hannah; Marble, Michael; Keppler-Noreuil, Kim M.; Drayson, Lucy; Baranano, Kristin W.; Chassevent, Anna; Agre, Katie; Letard, Pascaline; Bilan, Frederic; Le Guyader, Gwenael; Laquerriere, Annie; Ramsey, Keri; Henderson, Lindsay; Brady, Lauren; Tarnopolsky, Mark; Bainbridge, Matthew; Friedman, Jennifer; Capri, Yline; Athayde, Larissa; Kok, Fernando; Gurgel-Giannetti, Juliana; Ramos, Luiza L. P.; Blaser, Susan; Dowling, James J.; Weksberg, Rosanna
Efficacy of Caffeine in ADCY5-Related Dyskinesia: A Retrospective Study

咖啡因对ADCY5-Related运动障碍的疗效: 一项回顾性研究

MOVEMENT DISORDERS
IF7.6
2022-04-0518
PRE
Meneret, Aurelie; Mohammad, Shekeeb S.; Cif, Laura; Doummar, Diane; DeGusmao, Claudio; Anheim, Mathieu; Barth, Magalie; Damier, Philippe; Demonceau, Nathalie; Friedman, Jennifer; Gallea, Cecile; Gras, Domitille; Gurgel-Giannetti, Juliana; Innes, Emily A.; Necpal, Jan; Riant, Florence; Sagnes, Sandrine; Sarret, Catherine; Seliverstov, Yury; Paramanandam, Vijayashankar; Shetty, Kuldeep; Tranchant, Christine; Doulazmi, Mohamed; Vidailhet, Marie; Pringsheim, Tamara; Roze, Emmanuel
International retrospective natural history study of LMNA-related congenital muscular dystrophy
BRAIN COMMUNICATIONS
IF4.5
2021-04-1120
OAAI
Ben Yaou, Rabah; Yun, Pomi; Dabaj, Ivana; Norato, Gina; Donkervoort, Sandra; Xiong, Hui; Nascimento, Andres; Maggi, Lorenzo; Sarkozy, Anna; Monges, Soledad; Bertoli, Marta; Komaki, Hirofumi; Mayer, Michele; Mercuri, Eugenio; Zanoteli, Edmar; Castiglioni, Claudia; Marini-Bettolo, Chiara; D'Amico, Adele; Deconinck, Nicolas; Desguerre, Isabelle; Erazo-Torricelli, Ricardo; Gurgel-Giannetti, Juliana; Ishiyama, Akihiko; Kleinsteuber, Karin S.; Lagrue, Emmanuelle; Laugel, Vincent; Mercier, Sandra; Messina, Sonia; Politano, Luisa; Ryan, Monique M.; Sabouraud, Pascal; Schara, Ulrike; Siciliano, Gabriele; Vercelli, Liliana; Voit, Thomas; Yoon, Grace; Alvarez, Rachel; Muntoni, Francesco; Pierson, Tyler M.; Gomez-Andres, David; Foley, A. Reghan; Quijano-Roy, Susana; Bonnemann, Carsten G.; Bonne, Gisele
Intragenic variants in the SMN1 gene determine the clinical phenotype in 5q spinal muscular atrophy
NEUROLOGY-GENETICS
IF3.7
2020-10-0535
OAAI
Mendonca, Rodrigo de Holanda; Matsui Jr, Ciro; Polido, Graziela Jorge; Serafim Silva, Andre Macedo; Kulikowski, Leslie; Dias, Alexandre Torchio; Zanardo, Evelin Aline; Fontoura Solla, Davi Jorge; Gurgel-Giannetti, Juliana; Monteiro Lessa de Moura, Ana Carolina; Campolina Sampaio, Gabriela Palhares; Bulle Oliveira, Acary Souza; Sgobbi de Souza, Paulo Victor; Vieira de Rezende Pinto, Wladimir Bocca; Goncalves, Eduardo Augusto; Farias, Igor Braga; Nardes, Flavia; de Queiroz Campos Araujo, Alexandra Prufer; Marques Jr, Wilson; Tomaselli, Pedro Jose; Ospedale Ribeiro, Mara Dell; Kitajima, Joao Paulo; Monteiro, Fabiola Paoli; Morales Saute, Jonas Alex; Becker, Michele Michelin; Saraiva-Pereira, Maria Luiza; Brusius-Facchin, Ana Carolina; van der Linden, Vanessa; Florencio, Rodrigo Neves; Soares Barbosa, Andre Vinicius; Machado-Costa, Marcela Camara; Santos Pessoa, Andre Luiz; Souza, Leticia Silva; Franca Jr, Marcondes Cavalcante; Kok, Fernando; Reed, Umbertina Conti; Zanoteli, Edmar
A novel complex neurological phenotype due to a homozygous mutation in FDX2
BRAIN
IF11.7
2018-07-1332
OAAI
Gurgel-Giannetti, Juliana; Lynch, David S.; Brandao de Paiva, Anderson Rodrigues; Lucato, Leandro Tavares; Yamamoto, Guilherme; Thomsen, Christer; Basu, Somsuvro; Freua, Fernando; Giannetti, Alexandre Varella; de Assis, Bruno Della Ripa; Dell Ospedale Ribeiro, Mara; Barcelos, Isabella; Souza, Katiane Sayao; Monti, Fernanda; Melo, Uira Souto; Amorim, Simone; Silva, Leonardo G. L.; Macedo-Souza, Lucia Ines; Vianna-Morgante, Angela M.; Hirano, Michio; Van der Knaap, Marjo S.; Lill, Roland; Vainzof, Mariz; Oldfors, Anders; Houlden, Henry; Kok, Fernando

研究方向

暂未获取到该数据
E
Edmar Zanoteli
H 指数:36论文数:360被引数:4,130
M
Mariz Vainzof
H 指数:47论文数:712被引数:7,294
R
Rodrigo de Holanda Mendonça
H 指数:13论文数:90被引数:762
F
Fernando Kok
H 指数:47论文数:360被引数:8,292
E
Eugenio Mercuri
H 指数:108论文数:1,133被引数:4.8万
J
Jonas Alex Morales Saute
H 指数:35论文数:232被引数:3,009
O
Otávio Berwanger
H 指数:56论文数:340被引数:2.3万
M
Monique M. Ryan
H 指数:61论文数:403被引数:1.2万
H
Henrique Fonseca
H 指数:10论文数:86被引数:642
V
Vanessa van der Linden
H 指数:25论文数:81被引数:3,310