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

Expanding Hereditary Spastic Paraplegias Limits: Biallelic SPAST Variants in Cerebral Palsy Mimics.

扩大遗传性痉挛性截瘫的范围:脑瘫模拟中的双等位基因 SPAST 变异。

Nolasco Gregorio A, Roldán Mònica, Jamshidi Yalda, Georvasilis Ioannis, Rodríguez Rocío Jadraque, Boostani Reza, Shoeibi Ali, Armengol Lluís, Codina Anna, Karimiani Ehsan Ghayoor, Hernando-Davalillo Cristina, Martorell Loreto, Ramírez Almaraz María Luisa, Muchart Jordi, Ortez Carlos, Nascimento Andrés, Urreizti Roser, Natera-de Benito Daniel, Serrano Mercedes

Genomes to fields 2024 maize genotype by environment prediction competition

2024年玉米基因型环境预测竞赛:基因组到田间

Chen, Qiuyue; Washburn, Jacob D; Lima, Dayane Cristina; Romay, Maria Cinta; Gage, Joseph L; Holland, James B; Xavier, Alencar; Murray, Seth C; Ertl, David; Lopez-Cruz, Marco; de Los Campos, Gustavo; Aguate, Fernando M; Beissinger, Timothy M; Bohn, Martin O; Buckler, Edward S; Edwards, Jode; Flint-Garcia, Sherry A; Gore, Michael A; Hirsch, Candice N; Kaeppler, Shawn M; Kebede, Aida Z; Knoll, Joseph E; McKay, John K; Minyo, Richard; Ortez, Osler A; Reneau, Jonathan W; Schnable, James C; Sekhon, Rajandeep S; Singh, Maninder P; Sparks, Erin E; Thompson, Addie M; Tuinstra, Mitchell R; Wallace, Jason; Xu, Wenwei; de Leon, Natalia

Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot-Marie-Tooth Disease

DARS2基因双等位基因变异是轴突型夏科-马里-图斯病的新病因

Berta Estévez-Arias # ,Siiri Sarv # ,Nathalie Bonello-Palot ,Laura Carrera-García ,Carlos Ortez ,Jesica Expósito-Escudero ,Delia Yubero ,Jordi Muchart ,Emilien Delmont ,Eve Õiglane-Shlik ,Teele Meren ,Sanna Puusepp ,Ülle Murumets ,Gajja S Salomons ,Bjarne Udd ,Liis Väli ,Lara Cantarero ,Carsten G Bönnemann ,Andrés Nascimento ,Santiago Ramón-Maiques ,Katrin Õunap ,Janet Hoenicka # ,Daniel Natera-de Benito # ,Francesc Palau #

Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome.

CHRNE相关先天性肌无力综合征患者队列的血液生物标志物指纹图谱

Della Marina Adela, Koutsoulidou Andrie, Natera-de Benito Daniel, Tykocinski Lars-Oliver, Tomazou Marios, Georgiou Kristia, Laner Andreas, Kölbel Heike, Nascimento Andres, Ortez Carlos, Abicht Angela, Thakur Basant Kumar, Lochmüller Hanns, Phylactou Leonidas A, Ruck Tobias, Schara-Schmidt Ulrike, Kale Dipali, Hentschel Andreas, Roos Andreas

FAK Differentially Mechanoregulates Cell Migration during Wound Closure

FAK 在伤口愈合过程中差异性地调控细胞迁移

Patten, Jennifer; Albeltagy, Nourhan; Bonadio, Jacob D; Ortez, Armando; Wang, Karin

Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases

表型驱动的基因组学可提高对未确诊神经肌肉疾病患儿的诊断水平

Estévez-Arias, Berta; Matalonga, Leslie; Yubero, Delia; Polavarapu, Kiran; Codina, Anna; Ortez, Carlos; Carrera-García, Laura; Expósito-Escudero, Jesica; Jou, Cristina; Meyer, Stefanie; Kilicarslan, Ozge Aksel; Aleman, Alberto; Thompson, Rachel; Luknárová, Rebeka; Esteve-Codina, Anna; Gut, Marta; Laurie, Steven; Demidov, German; Yépez, Vicente A; Beltran, Sergi; Gagneur, Julien; Topf, Ana; Lochmüller, Hanns; Nascimento, Andres; Hoenicka, Janet; Palau, Francesc; Natera-de Benito, Daniel

Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases

将肌肉RNA测序转化为临床应用,用于肌肉疾病的诊断

Segarra-Casas, Alba; Domínguez-González, Cristina; Natera-de Benito, Daniel; Kapetanovic, Solange; Hernández-Laín, Aurelio; Estévez-Arias, Berta; Llansó, Laura; Ortez, Carlos; Jou, Cristina; Martí-Carrera, Itxaso; López-Márquez, Arístides; Rodríguez, Maria José; González-Mera, Laura; Nedkova, Velina; Fernández-Torrón, Roberto; Rodríguez-Santiago, Benjamín; Jimenez-Mallebrera, Cecília; Juntas-Morales, Raul; López-de Munain, Adolfo; Surrallés, Jordi; Nascimento, Andrés; Gallardo, Eduard; Olivé, Montse; Gallano, Pia; González-Quereda, Lidia

Fetal Akinesia/Hypokinesia and Arthrogryposis of Neuromuscular Origin: Etiologic Groups, Genetics, and Phenotypic Spectrum

胎儿运动不能/运动减少和神经肌肉源性关节挛缩:病因分类、遗传学和表型谱

Pérez-Vidarte, Florencia; Estévez-Arias, Berta; Matalonga, Leslie; Yubero, Delia; Codina, Anna; Ortez, Carlos; Medina, Julita; DeSena DeCabo, Lidia; Carrera-García, Laura; Expósito-Escudero, Jesica; Jou, Cristina; Tizzano, Eduardo F; Nascimento, Andres; Natera-de Benito, Daniel

MYL1-Related Congenital Myopathy: Clinical, Genetic and Pathological Insights.

MYL1相关先天性肌病:临床、遗传和病理学见解

Madrigal Irene, Villar-Vera Cristina, Arca Gemma, Expósito-Escudero Jesica, Rodríguez-Revenga Laia, Piolatti-Luna Andres, Muelas Nuria, Vilchez Roger, Ciutad Celdran Maria, Codina Anna, Estévez-Arias Berta, Carrera-Garcia Laura, Ortez Carlos, Rodriguez-Carunchio Leonardo, Sebastiani Giorgia, Azorin Inmaculada, Nascimento Andrés, Jou Cristina, Vilchez Juan Jesus, Natera-de Benito Daniel

Pharmacological and genetic manipulation of glyoxalase-1 (GLO1) does not alter locomotor responses or conditioned place preference induced by cocaine or oxycodone

对乙二醛酶-1 (GLO1) 进行药理学和基因操作不会改变可卡因或羟考酮诱导的运动反应或条件性位置偏好。

Alcantara, Elizabeth; Doyle, Michelle R; Ortez, Clara A; Ilustrisimo, Anne; Stromberg, Bloom; Barkley-Levenson, Amanda M; Palmer, Abraham A