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

Loss of DOT1L disrupts neuronal transcription and leads to a neurodevelopmental disorder

DOT1L 的缺失会扰乱神经元转录,并导致神经发育障碍。

Maroni, Marissa J; Barton, Melissa; Lynch, Katherine; Deshwar, Ashish R; Campbell, Philip D; Millard, Josephine; Lee, Rachel; Cohen, Annastelle; Ahmad, Rili; Paranjapye, Alekh; Faundes, Víctor; Repetto, Gabriela M; McKenna, Caoimhe; Shillington, Amelle L; Phornphutkul, Chanika; Hove, Hanne B; Mancini, Grazia M S; Schot, Rachel; Barakat, Tahsin Stefan; Richmond, Christopher M; Lauzon, Julie; Ibrahim, Ahmed Ibrahim Elsayed; Nava, Caroline; Héron, Delphine; van Aalst, Minke M A; Atemin, Slavena; Sleptsova, Mila; Aleksandrova, Iliyana; Todorova, Albena; Watkins, Debra L; Kozenko, Mariya A; Natera-de Benito, Daniel; Ortez, Carlos; Estevez-Arias, Berta; Lecoquierre, François; Cassinari, Kévin; Guerrot, Anne-Marie; Levy, Jonathan; Latypova, Xenia; Verloes, Alain; Innes, A Micheil; Yang, Xiao-Ru; Banka, Siddharth; Vill, Katharina; Jacob, Maureen; Kruer, Michael; Skidmore, Peter; Galaz-Montoya, Carolina I; Bakhtiari, Somayeh; Mester, Jessica L; Granato, Michael; Armache, Karim-Jean; Costain, Gregory; Korb, Erica

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

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

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

Natural history of patients with nonsense mutation Duchenne muscular dystrophy treated with ataluren in Spain

西班牙接受阿塔卢伦治疗的无义突变杜氏肌营养不良症患者的自然病程

Armijo, Jesús; Nascimento, Andrés; Expósito, Jesica; Carrera, Laura; Natera-de Benito, Daniel; Ortez, Carlos

SDS22 coordinates the assembly of holoenzymes from nascent protein phosphatase-1

SDS22协调新生蛋白磷酸酶-1组装成全酶。

Cao, Xinyu; Lake, Madryn; Van der Hoeven, Gerd; Claes, Zander; Del Pino García, Javier; Lemaire, Sarah; Greiner, Elora C; Karamanou, Spyridoula; Van Eynde, Aleyde; Kettenbach, Arminja N; Natera de Benito, Daniel; Carrera García, Laura; Hernando Davalillo, Cristina; Ortez, Carlos; Nascimento, Andrés; Urreizti, Roser; Bollen, Mathieu

Mutations of GEMIN5 are associated with coenzyme Q(10) deficiency: long-term follow-up after treatment

GEMIN5基因突变与辅酶Q10缺乏症相关:治疗后的长期随访

Cascajo-Almenara, Marivi V; Juliá-Palacios, Natalia; Urreizti, Roser; Sánchez-Cuesta, Ana; Fernández-Ayala, Daniel M; García-Díaz, Elena; Oliva, Clara; O Callaghan, Maria Del Mar; Paredes-Fuentes, Abraham J; Moreno-Lozano, Pedro J; Muchart, Jordi; Nascimento, Andres; Ortez, Carlos I; Natera-de Benito, Daniel; Pineda, Mercedes; Rivera, Noelia; Fortuna, Tyler R; Rajan, Deepa S; Navas, Plácido; Salviati, Leonardo; Palau, Francesc; Yubero, Delia; García-Cazorla, Angels; Pandey, Udai Bhan; Santos-Ocaña, Carlos; Artuch, Rafael