Cortese, Andrea; Dohrn, Maike F.; Curro, Riccardo; Negri, Sara; Lassuthova, Petra; Pisciotta, Chiara; Tozza, Stefano; Al-Ajmi, Abdullah; Feng, Changyong; Tomaselli, Pedro J.; Fernandez-Eulate, Gorka; Haddad, Saif; Laura, Matilde; Rossor, Alexander M.; Vegezzi, Elisa; Facchini, Stefano; Sleigh, James N.; Rebelo, Adriana; Beijer, Danique; Raposo, Jacquelyn; Saporta, Mario; Lauerova, Barbora; Pernice, Helena F.; Achenbach, Pascal; Schone, Ulrike; Alon, Tayir; Deschauer, Marcus; Cordts, Isabell; Obermaier, Carolin D.; Winter, Natalie; Creigh, Peter D.; Sowden, Janet E.; Rehbein, Tyler; Magri, Stefania; Bertini, Alessandro; Saveri, Paola; Ripellino, Paolo; Huang, Jingyu; Nadaj-Pakleza, Aleksandra; Ross, Alison; Holt, James K. L.; Brennan, Kathryn M.; Sukenik-Halevy, Rivka; Bizaoui, Varoona; Parman, Yesim; Battaloglu, Esra; Cakar, Arman; Alrohaif, Hadil; Hammans, Simon; Kumar, Kishore R.; Kennerson, Marina L.; Kayserili, Hulya; Amado, Defne A.; Hahn, Katrin; Valentino, Paola; Cavalcanti, Francesca; Gaetano, Carlo; Taroni, Franco; Braathen, Geir J.; Houlden, Henry; Stojkovic, Tanya; Peric, Stojan; Bolino, Alessandra; Previtali, Stefano C.; Lee, Yi-Chung; Basak, Ayse N.; Hamed, Sherifa A.; Rojas-Garcia, Ricardo; Claeys, Kristl G.; Marques, Wilson; Sevilla, Teresa; Schlotter-Weigel, Beate; Manganelli, Fiore; Zhang, Ruxu; Herrmann, David N.; Scherer, Steven S.; Seeman, Pavel; Pareyson, Davide; Reilly, Mary M.; Shy, Michael E.; Zuchner, Stephan

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

Applicability of a serodiagnostic line blot for idiopathic inflammatory myopathy: the muscle biopsy is not all ( vol 15 , 1504260 , 2025)

特发性炎症性肌病的血清学诊断线点杂交适用性：肌肉活检并非全部（卷15，1504260，2025）

FRONTIERS IN NEUROLOGY

IF2.8

2025-02-120

Hopkins Syndrome: An Uncommon Cause of Weakness in Intensive Care Unit

PEDIATRIC NEUROLOGY

IF2.1

2025-02-010

PRE

EEFSEC deficiency: A selenopathy with early-onset neurodegeneration

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2025-01-010

OAAI

Laugwitz, Lucia; Buchert, Rebecca; Olguin, Patricio; Estiar, Mehrdad A.; Atanasova, Mihaela; Marques, Wilson, Jr.; Enssle, Joerg; Marsden, Brian; Aviles, Javiera; Gonzalez-Gutierrez, Andres; Candia, Noemi; Fabiano, Marietta; Morlot, Susanne; Peralta, Susana; Groh, Alisa; Schillinger, Carmen; Kuehn, Carolin; Sofan, Linda; Sturm, Marc; Bender, Benjamin; Tomaselli, Pedro J.; Diebold, Uta; Mueller, Amelie J.; Spranger, Stephanie; Fuchs, Maren; Freua, Fernando; Melo, Uira Souto; Mattas, Lauren; Ashtiani, Setareh; Suchowersky, Oksana; Groeschel, Samuel; Rouleau, Guy A.; Yosovich, Keren; Michelson, Marina; Leibovitz, Zvi; Bilal, Muhammad; Uctepe, Eyyup; Yesilyurt, Ahmet; Ozdogan, Orhan; Celik, Tamer; Kraegeloh-Mann, Ingeborg; Riess, Olaf; Rosewich, Hendrik; Umair, Muhammad; Lev, Dorit; Zuchner, Stephan; Schweizer, Ulrich; Lynch, David S.; Gan-Or, Ziv; Hack, Tobias B.

Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country

BRAIN COMMUNICATIONS

IF4.5

2024-11-140

OAAI

Focal slowing of nerve conduction velocity in leprosy patients unveiled through multisegmented nerve analysis

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

IF3.2

2024-08-200