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

Advancing biobanking in Latin America: success stories and challenges ahead

推进拉丁美洲生物样本库建设:成功案例与未来挑战

Sevlever, Gustavo; Crivelli, Lucía; Suemoto, Claudia Kimie; Surace, Ezequiel; Taratuto, Analía

Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies

严重 ACTA1 相关杆状体肌病:肌肉活检中的特征性病理特征为核内杆状体、胞质体和扩大的核周间隙

Clémence Labasse #, Guy Brochier #, Ana-Lia Taratuto, Bruno Cadot, John Rendu, Soledad Monges, Valérie Biancalana, Susana Quijano-Roy, Mai Thao Bui, Anaïs Chanut, Angéline Madelaine, Emmanuelle Lacène, Maud Beuvin, Helge Amthor, Laurent Servais, Yvan de Feraudy, Marcela Erro, Maria Saccoliti, Osorio

Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients

对一组阿根廷儿科患者线粒体DNA疾病的临床和分子特征分析

Loos, Mariana Amina; Gomez, Gimena; Mayorga, Lía; Caraballo, Roberto Horacio; Eiroa, Hernán Diego; Obregon, María Gabriela; Rugilo, Carlos; Lubieniecki, Fabiana; Taratuto, Ana Lía; Saccoliti, María; Alonso, Cristina Noemi; Aráoz, Hilda Verónica

'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

“尘心病”(DuCD):RYR1 隐性肌病的形态学谱不断扩大

Matteo Garibaldi, John Rendu, Julie Brocard, Emmanuelle Lacene, Julien Fauré, Guy Brochier, Maud Beuvin, Clemence Labasse, Angeline Madelaine, Edoardo Malfatti, Jorge Alfredo Bevilacqua, Fabiana Lubieniecki, Soledad Monges, Ana Lia Taratuto, Jocelyn Laporte, Isabelle Marty, Giovanni Antonini, Norma

A 36-year-old man with headache and fever

一名36岁男子,出现头痛和发烧症状。

Riudavets, Miguel A; Lía Taratuto, Ana; Pelorosso, Facundo; Sevlever, Gustavo

CLN8 disease caused by large genomic deletions

CLN8 疾病是由大片段基因组缺失引起的

Beesley, Clare; Guerreiro, Rita J; Bras, Jose T; Williams, Ruth E; Taratuto, Ana Lia; Eltze, Christin; Mole, Sara E

Gerstmann-Sträussler-Scheinker syndrome with variable phenotype in a new kindred with PRNP-P102L mutation

在携带 PRNP-P102L 突变的新家系中发现具有可变表型的 Gerstmann-Sträussler-Scheinker 综合征

Riudavets, Miguel A; Sraka, María Alejandra; Schultz, Marcelo; Rojas, Estefanía; Martinetto, Horacio; Begué, Christian; Noher de Halac, Inés; Poleggi, Anna; Equestre, Michele; Pocchiari, Maurizio; Sevlever, Gustavo; Taratuto, Ana Lía

Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype

与肌丝蛋白相关的肌病肌肉组织病理学:超微结构发现与疾病严重程度和基因型相关

Malfatti, Edoardo; Lehtokari, Vilma-Lotta; Böhm, Johann; De Winter, Josine M; Schäffer, Ursula; Estournet, Brigitte; Quijano-Roy, Susana; Monges, Soledad; Lubieniecki, Fabiana; Bellance, Remi; Viou, Mai Thao; Madelaine, Angéline; Wu, Bin; Taratuto, Ana Lía; Eymard, Bruno; Pelin, Katarina; Fardeau, Michel; Ottenheijm, Coen A C; Wallgren-Pettersson, Carina; Laporte, Jocelyn; Romero, Norma B

Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies

TPM2 和 TPM3 中导致先天性肌病的新型和先前已描述的突变的突变更新及基因型-表型相关性

Marttila, Minttu; Lehtokari, Vilma-Lotta; Marston, Steven; Nyman, Tuula A; Barnerias, Christine; Beggs, Alan H; Bertini, Enrico; Ceyhan-Birsoy, Ozge; Cintas, Pascal; Gerard, Marion; Gilbert-Dussardier, Brigitte; Hogue, Jacob S; Longman, Cheryl; Eymard, Bruno; Frydman, Moshe; Kang, Peter B; Klinge, Lars; Kolski, Hanna; Lochmüller, Hans; Magy, Laurent; Manel, Véronique; Mayer, Michèle; Mercuri, Eugenio; North, Kathryn N; Peudenier-Robert, Sylviane; Pihko, Helena; Probst, Frank J; Reisin, Ricardo; Stewart, Willie; Taratuto, Ana Lia; de Visser, Marianne; Wilichowski, Ekkehard; Winer, John; Nowak, Kristen; Laing, Nigel G; Winder, Tom L; Monnier, Nicole; Clarke, Nigel F; Pelin, Katarina; Grönholm, Mikaela; Wallgren-Pettersson, Carina

Skeletal muscle biopsy analysis in reducing body myopathy and other FHL1-related disorders

骨骼肌活检分析在减少肌病和其他FHL1相关疾病中的作用

Malfatti, Edoardo; Olivé, Montse; Taratuto, Ana Lía; Richard, Pascale; Brochier, Guy; Bitoun, Marc; Gueneau, Lucie; Laforêt, Pascal; Stojkovic, Tanya; Maisonobe, Thierry; Monges, Soledad; Lubieniecki, Fabiana; Vasquez, Gabriel; Streichenberger, Nathalie; Lacène, Emmanuelle; Saccoliti, Maria; Prudhon, Bernard; Alexianu, Marilena; Figarella-Branger, Dominique; Schessl, Joachim; Bonnemann, Carsten; Eymard, Bruno; Fardeau, Michel; Bonne, Gisèle; Romero, Norma Beatriz