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C

C. Ortez

Institut de Recerca Sant Joan de Déu
H指数:28
被引数:3,016
浏览量:0

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

DOT1L的缺失破坏了神经元转录，并导致神经发育障碍

BRAIN
IF11.7
2025-12-010
PRE
Maroni, Marissa J.; Barton, Melissa; Lynch, Katherine; Deshwar, Ashish R.; Campbell, Philip D.; Millard, Josephine; Lee, Rachel; Cohen, Annastelle; Ahmad, Rili; Paranjapye, Alekh; Faundes, Victor; 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; Heron, 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, Francois; Cassinari, Kevin; 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

扩展遗传性痉挛性截瘫痷的范围：脑瘫中双等位基因SPAST变异的模拟

Annals of Clinical and Translational Neurology
IF3.9
2025-09-260
OAAI
Gregorio A. Nolasco; Mònica Roldán; Yalda Jamshidi; Ioannis Georvasilis; Rocío Jadraque Rodríguez; Reza Boostani; Ali Shoeibi; Lluís Armengol; Anna Codina; Ehsan Ghayoor Karimiani; Cristina Hernando-Davalillo; Loreto Martorell; María Luisa Ramírez Almaraz; Jordi Muchart; Carlos Ortez; Andrés Nascimento; Roser Urreizti; Daniel Natera-de Benito; Mercedes Serrano
Biallelic Variants in the DARS2 Gene as a Novel Cause of Axonal Charcot–Marie–Tooth Disease

DARS2基因的biallelic变异作为轴索型Charcot–Marie–Tooth病的全新病因

Annals of Neurology
IF7.7
2025-08-150
OAAI
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
Upper limb motor function in individuals with SMA type 2: natural history and impact of therapies

2型脊髓性肌萎缩症患者上肢运动功能：自然病史及疗法影响

JOURNAL OF NEUROLOGY
IF4.6
2025-04-090
PRE
Carrera-Garcia, Laura; Exposito-Escudero, Jessica; Garzon, Nancy Carolina Nungo; Pareja, Ana; Fernandez-Garcia, Miguel A.; Ortez, Carlos; Medina, Julita; Martinez-Salcedo, Eduardo; Urbano, Mario; Grimalt, Maria Antonia; Munell, Francina; Garcia-Campos, Oscar; Roca, Sandra; Moya, Obdulia; Estevez-Arias, Berta; Balsells, Sol; Frongia, Anna Lia; Borras, Ariadna; Puig-Ram, Cristina; Garcia Romero, Mar; Calvo, Rocio; Lopez-Lobato, Mercedes; Pitarch-Castellano, Inmaculada; Natera-de Benito, Daniel; Nascimento, Andres
Blood biomarker fingerprints in a cohort of patients with CHRNE-related congenital myasthenic syndrome
ACTA NEUROPATHOLOGICA COMMUNICATIONS
IF5.7
2025-02-130
OAAI
Della Marina, Adela; Koutsoulidou, Andrie; Natera-de Benito, Daniel; Tykocinski, Lars-Oliver; Tomazou, Marios; Georgiou, Kristia; Laner, Andreas; Koelbel, Heike; Nascimento, Andres; Ortez, Carlos; Abicht, Angela; Thakur, Basant Kumar; Lochmuller, 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 (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
Cerebrospinal Fluid Homovanillic and 5-Hydroxyindoleacetic Acids in a Large Pediatric Population; Establishment of Reference Intervals and Impact of Disease and Medication

大量儿科人群中的脑脊液同型香草酸和5-羟吲哚乙酸; 参考区间的建立以及疾病和药物的影响

CLINICAL CHEMISTRY
IF6.3
2024-09-270
PRE
Rodriguez-Gonzalez, Helena; Ormazabal, Aida; Casado, Mercedes; Arias, Angela Y.; Oliva, Clara; Barranco-Altirriba, Maria; Casadevall, Ricard; Garcia-Cuyas, Francesc; Nascimento, Andres; Ortez, Carlos; Natera-de Benito, Daniel; Armangue, Thais; O'Callaghan, Maria M.; Julia-Palacios, Natalia; Darling, Alejandra; Ortigoza-Escobar, Juan Dario; Fons, Carmen; Garcia-Cazorla, Angels; Perera-Lluna, Alexandre; Artuch, Rafael
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases
EUROPEAN JOURNAL OF HUMAN GENETICS
IF4.6
2024-09-272
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; Natera-de Benito, Daniel
Advancing the Understanding of Vesicle-Associated Membrane Protein 1-Related Congenital Myasthenic Syndrome: Phenotypic Insights, Favorable Response to 3,4-Diaminopyridine, and Clinical Characterization of Five New Cases
PEDIATRIC NEUROLOGY
IF2.1
2024-08-010
PRE
Natera-deBenito, Daniel; Pugliese, Alessia; Polavarapu, Kiran; Guergueltcheva, Velina; Tournev, Ivailo; Todorova, Albena; Ribeiro, Joana Afonso; Fernandez-Mayoralas, Daniel M.; Ortez, Carlos; Martorell, Loreto; Estevez-Arias, Berta; Matalonga, Leslie; Laurie, Steven; Jou, Cristina; Lau, Jarred; Thompson, Rachel; Shen, Xinming; Engel, Andrew G.; Nascimento, Andres; Lochmuller, Hanns; Selcen, Duygu
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
OA
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
Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations
CELL DEATH & DISEASE
IF9.6
2023-09-0710
OAAI
Suarez-Calvet, Xavier; Fernandez-Simon, Esther; Natera, Daniel; Jou, Cristina; Pinol-Jurado, Patricia; Villalobos, Elisa; Ortez, Carlos; Monceau, Alexandra; Schiava, Marianela; Codina, Anna; Verdu-Diaz, Jose; Clark, James; Laidler, Zoe; Mehra, Priyanka; Gokul-Nath, Rasya; Alonso-Perez, Jorge; Marini-Bettolo, Chiara; Tasca, Giorgio; Straub, Volker; Guglieri, Michela; Nascimento, Andres; Diaz-Manera, Jordi
A comprehensive study of skeletal muscle imaging in FHL1-related reducing body myopathy
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2023-07-221
OA
Mohassel, Payam; Yun, Pomi; Syeda, Safoora; Batra, Abhinandan; Bradley, Andrew J.; Donkervoort, Sandra; Monges, Soledad; Cohen, Julie S.; Leung, Doris G.; Munell, Francina; Ortez, Carlos; Sanchez-Montanez, Angel; Karachunski, Peter; Brandsema, John; Medne, Livija; Chaudhry, Vinay; Tasca, Giorgio; Foley, A. Reghan; Udd, Bjarne; Arai, Andrew E.; Walter, Glenn A.; Bonnemann, Carsten G.
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
JOURNAL OF MEDICAL GENETICS
IF3.7
2023-05-169
OAAI
Justel, Maria; Jou, Cristina; Sariego-Jamardo, Andrea; Alexandra Julia-Palacios, Natalia; Ortez, Carlos; Luisa Poch, Maria; Hedrera-Fernandez, Antonio; Gomez-Martin, Hilario; Codina, Anna; Dominguez-Carral, Jana; Muxart, Jordi; Hernandez-Lain, Aurelio; Vila-Bedmar, Sara; Zulaica, Miren; Cancho-Candela, Ramon; del Carmen Castro, Margarita; de la Osa-langreo, Alberto; Pena-Valenceja, Alfonso; Marcos-Vadillo, Elena; Prieto-Matos, Pablo; Ignacio Pascual-Pascual, Samuel; Lopez de Munain, Adolfo; Camacho, Ana; Estevez-Arias, Berta; Musokhranova, Uliana; Olivella, Mireia; Oyarzabal, Alfonso; Jimenez-Mallebrera, Cecilia; Dominguez-Gonzalez, Cristina; Nascimento, Andres; Garcia-Cazorla, Angels; Natera-de Benito, Daniel
Full-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen

细胞外囊泡中的全长SMN转录本作为Nusinersen治疗的2型脊髓性肌萎缩症患者的生物标志物

JOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
2023-04-057
OAAI
Trifunov, Selena; Natera-de Benito, Daniel; Carrera-Garcia, Laura; Codina, Anna; Exposito-Escudero, Jesica; Ortez, Carlos; Medina, Julita; Torres Alcala, Soraya; Bernal, Sara; Alias, Laura; Badosa, Carmen; Balsells, Sol; Alcolea, Daniel; Nascimento, Andres; Jimenez-Mallebrera, Cecilia
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

研究方向

暂未获取到该数据
A
A. Nascimento
H 指数:39论文数:275被引数:4,948
D
Daniel Natera‐de Benito
H 指数:22论文数:191被引数:1,769
L
Laura Carrera‐García
H 指数:14论文数:78被引数:664
C
Cristina Jou
H 指数:28论文数:163被引数:2,365
J
J. Expósito
H 指数:14论文数:82被引数:577
F
Francesc Palau
H 指数:48论文数:284被引数:1.0万
A
Anna Codina
H 指数:21论文数:125被引数:6,707
C
C. Jimenez‐Mallebrera
H 指数:38论文数:194被引数:4,468
B
Berta Estévez‐Arias
H 指数:4论文数:29被引数:54
J
Janet Hoenicka
H 指数:38论文数:137被引数:1.0万