日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Spectrum of dominant Charcot-Marie-Tooth disease due to SLC12A6 variants

由SLC12A6变异引起的显性夏科-马里-图斯病谱

Record, Christopher J; Grider, Tiffany; Rebelo, Adriana P; Laurini, Christian; Skorupinska, Mariola; Danzi, Matt C; Poh, Roy; Tomaselli, Pedro J; Frezatti, Rodrigo S; Dominik, Natalia; Grosz, Bianca; Ellis, Melina; Kumar, Kishore R; Harms, Matthew B; Weihl, Conrad C; Marques Júnior, Wilson; Claeys, Kristl G; Blake, Julian C; Holt, James Kl; Weber, Astrid; Jacobson, Ryan; Dineen, Richard T; Falzone, Yuri M; Previtali, Stefano C; Menezes, Manoj P; Vucic, Steve; Laura, Matilde; Kennerson, Marina L; Shy, Michael E; Zuchner, Stephan; Reilly, Mary M

Motor Neuronopathy With Widespread Fasciculations in MCM3AP-Related Disorder: Clinical and Muscle MRI Insights

MCM3AP相关疾病中伴有广泛肌束颤动的运动神经元病:临床和肌肉MRI见解

Lemos, Ana Flávia Andrade; Frezatti, Rodrigo Siqueira Soares; Dos Santos, Antônio Carlos; Tomaselli, Pedro José; Marques, Wilson Jr

Hirayama disease: an uncommon cause of motor neuron disease

平山病:一种罕见的运动神经元疾病

Gonçalves, Trajano Aguiar Pires; Simão, Gustavo Novelino; Frezatti, Rodrigo Siqueira Soares; Filho, Fabio Silveira Dos Santos; Tomaselli, Pedro José

Brazilian Academy of Neurology recommendations for diagnosis, management, and treatment of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP)

巴西神经病学会关于慢性炎症性脱髓鞘性多发性神经根神经病(CIDP)的诊断、管理和治疗建议

Nascimento, Osvaldo J M; Marques, Wilson Jr; Gonçalves, Marcus Vinícius Magno; Tomaselli, Pedro José; Pupe, Camila; França, Marcondes Cavalcante Jr; Gondim, Francisco de Assis Aquino; Freitas, Marcos Raimundo Gomes de; Frezatti, Rodrigo Siqueira Soares; Oliveira, Acary Souza Bulle; Rotta, Francisco Tellechea; Tosta, Elza Dias; Scola, Rosana; Daccach, Vanessa; Marrone, Carlo Domenico; Becker, Jefferson; Rigatto, Susanie; Martinez, Alberto R M; Cabeça, Hideraldo; Winckler, Pablo Brea; Dourado, Mario Emilio; Santos, Diogo Fernandes Dos

Overcoming genetic neuromuscular diagnostic pitfalls in a middle-income country

克服中等收入国家遗传性神经肌肉疾病诊断中的陷阱

Frezatti, Rodrigo Siqueira Soares; Tomaselli, Pedro José; Record, Christopher J; Wilson, Lindsay A; Alves, Gustavo Maximiano; Dominik, Natalia; Efthymiou, Stephanie; Patel, Krutik; Vandrovcova, Jana; Männikkö, Roope; Pitceathly, Robert D S; Sobreira, Claudia Ferreira da Rosa; McFarland, Robert; Taylor, Robert W; Houlden, Henry; Hanna, Michael G; Reilly, Mary M; Marques, Wilson

Neuromuscular disease genetics in under-represented populations: increasing data diversity

神经肌肉疾病遗传学在代表性不足人群中的研究:提高数据多样性

Wilson, Lindsay A; Macken, William L; Perry, Luke D; Record, Christopher J; Schon, Katherine R; Frezatti, Rodrigo S S; Raga, Sharika; Naidu, Kireshnee; Köken, Özlem Yayıcı; Polat, Ipek; Kapapa, Musambo M; Dominik, Natalia; Efthymiou, Stephanie; Morsy, Heba; Nel, Melissa; Fassad, Mahmoud R; Gao, Fei; Patel, Krutik; Schoonen, Maryke; Bisschoff, Michelle; Vorster, Armand; Jonvik, Hallgeir; Human, Ronel; Lubbe, Elsa; Nonyane, Malebo; Vengalil, Seena; Nashi, Saraswati; Srivastava, Kosha; Lemmers, Richard J L F; Reyaz, Alisha; Mishra, Rinkle; Töpf, Ana; Trainor, Christina I; Steyn, Elizabeth C; Mahungu, Amokelani C; van der Vliet, Patrick J; Ceylan, Ahmet Cevdet; Hiz, A Semra; Çavdarlı, Büşranur; Semerci Gündüz, C Nur; Ceylan, Gülay Güleç; Nagappa, Madhu; Tallapaka, Karthik B; Govindaraj, Periyasamy; van der Maarel, Silvère M; Narayanappa, Gayathri; Nandeesh, Bevinahalli N; Wa Somwe, Somwe; Bearden, David R; Kvalsund, Michelle P; Ramdharry, Gita M; Oktay, Yavuz; Yiş, Uluç; Topaloğlu, Haluk; Sarkozy, Anna; Bugiardini, Enrico; Henning, Franclo; Wilmshurst, Jo M; Heckmann, Jeannine M; McFarland, Robert; Taylor, Robert W; Smuts, Izelle; van der Westhuizen, Francois H; Sobreira, Claudia Ferreira da Rosa; Tomaselli, Pedro J; Marques, Wilson Jr; Bhatia, Rohit; Dalal, Ashwin; Srivastava, M V Padma; Yareeda, Sireesha; Nalini, Atchayaram; Vishnu, Venugopalan Y; Thangaraj, Kumarasamy; Straub, Volker; Horvath, Rita; Chinnery, Patrick F; Pitceathly, Robert D S; Muntoni, Francesco; Houlden, Henry; Vandrovcova, Jana; Reilly, Mary M; Hanna, Michael G

Frequency of GAA-FGF14 Ataxia in a Large Cohort of Brazilian Patients With Unsolved Adult-Onset Cerebellar Ataxia

在巴西一大群未确诊成人起病型小脑共济失调患者中,GAA-FGF14共济失调的发生率

Novis, Luiz Eduardo; Frezatti, Rodrigo S; Pellerin, David; Tomaselli, Pedro J; Alavi, Shahryar; Della Coleta, Marcus Vinícius; Spitz, Mariana; Dicaire, Marie-Josée; Iruzubieta, Pablo; Pedroso, José Luiz; Barsottini, Orlando; Cortese, Andrea; Danzi, Matt C; França, Marcondes C Jr; Brais, Bernard; Zuchner, Stephan; Houlden, Henry; Raskin, Salmo; Marques, Wilson; Teive, Helio A