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

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

胎儿运动不能/运动减少及神经肌肉源性关节挛缩：病因学组别、遗传学及表型谱

Annals of Clinical and Translational Neurology

IF3.9

2025-05-290

Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases (27 Sept, 10.1038/s41431-024-01699-4, 2024)

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-12-100

PRE

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

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

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-09-272

PRE

Exploring Plasma Coenzyme Q10 Status in Paediatric Dyslipidaemia

ANTIOXIDANTS

IF6.6

2024-08-090

OAAI

Improving Diagnostic Precision: Phenotype-Driven Analysis Uncovers a Maternal Mosaicism in an Individual with RYR1-Congenital Myopathy

JOURNAL OF NEUROMUSCULAR DISEASES

IF3.4

2024-03-101

OAAI

Mutations of GEMIN5 are associated with coenzyme Q10 deficiency: long-term follow-up after treatment

GEMIN5突变与辅酶Q10缺乏症相关: 治疗后的长期随访

EUROPEAN JOURNAL OF HUMAN GENETICS

IF4.6

2024-02-058

Cascajo-Almenara, Marivi V.; Julia-Palacios, Natalia.; Urreizti, Roser; Sanchez-Cuesta, Ana; Fernandez-Ayala, Daniel M.; Garcia-Diaz, 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, Placido; Salviati, Leonardo; Palau, Francesc; Yubero, Delia; Garcia-Cazorla, Angels; Pandey, Udai Bhan; Santos-Ocana, Carlos; Artuch, Rafael

Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

ACTA NEUROPATHOLOGICA

IF9.3

2023-02-172

PRE

Nascimento, Andres; Bruels, Christine C.; Donkervoort, Sandra; Foley, A. Reghan; Codina, Anna; Milisenda, Jose C.; Estrella, Elicia A.; Li, Chengcheng; Pijuan, Jordi; Draper, Isabelle; Hu, Ying; Stafki, Seth A.; Pais, Lynn S.; Ganesh, Vijay S.; O'Donnell-Luria, Anne; Syeda, Safoora B.; Carrera-Garcia, Laura; Exposito-Escudero, Jessica; Yubero, Delia; Martorell, Loreto; Pinal-Fernandez, Iago; Lidov, Hart G. W.; Mammen, Andrew L.; Grau-Junyent, Josep M.; Ortez, Carlos; Palau, Francesc; Ghosh, Partha S.; Darras, Basil T.; Jou, Cristina; Kunkel, Louis M.; Hoenicka, Janet; Bonnemann, Carsten G.; Kang, Peter B.; Natera-de Benito, Daniel

Laboratory testing for mitochondrial diseases: biomarkers for diagnosis and follow-up

线粒体疾病的实验室检测: 用于诊断和随访的生物标志物

CRITICAL REVIEWS IN CLINICAL LABORATORY SCIENCES

IF5.5

2023-01-246

PRE

Leigh syndrome is the main clinical characteristic of PTCD3 deficiency

Leigh综合征是PTCD3缺乏症的主要临床特征

BRAIN PATHOLOGY

IF6.2

2022-11-305

OAAI