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C

Cristina Jou

hospital sant joan de déu
H指数:28
被引数:2,365

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Beyond distal arthrogryposis: refining the phenotypic landscape of PIEZO2-related disorders

超越远端关节挛缩症：精炼PIEZO2相关疾病的表型景观

Brain
IF11.7
2026-07-240
OAAI
Giuliana Capece; Maria Francesca Di Feo; Evgeniya Melnik; Elena Dadali; Tatiana Markova; Alain Verloes; Federica Ruscitti; Jonathan Lévy; Daniel Natera-de Benito; Carlos Ortez; Andres Nascimiento; Berta Estevez-Arias; Cristina Jou; Sergei Kurbatov; Aysylu Murtazina; Artem Sharkov; Nour Elkhateeb; Walaa ElNaggar; Flavio Faletra; Catia Mio; Jennifer Schymick; Paige Calvert; Yasemin Alanay; Esra Isik; Berkay Yıldız; Somayeh Bakhtiari; Michael C Kruer; Andreas Roos; Heike Kölbel; Hossein Darvish; Shohreh Vosoogh; Eliane Chouery; Cybel Mehawej; André Mégarbané; J Andoni Urtizberea; Henriette V F Senghor; Moustapha Ndiaye; Pedro M Rodriguez Cruz; Luca Bello; Elena Pegoraro; Bjarne Udd; Marco Savarese
Loss of function of retinol dehydrogenase 11 causes a recessive syndrome characterized by myopathy, retinal dystrophy, juvenile cataracts, and microcephaly

视黄醇脱氢酶11功能丧失导致一种隐性综合征，其特征为肌病、视网膜营养不良、青少年白内障和小头畸形。

Genetics in Medicine
IF6.2
2026-03-250
PRE
Francesca Clementina Radio; Giorgio Tasca; Sandra Coppens; Giovanni Chillemi; Sandra Whalen; Isabelle Marey; Chiara Leoni; Roberta Onesimo; Nicolas Deconinck; Adele D’Amico; Gauthier Remiche; Andres Nascimento; Carlos Ortez; Cristina Jou; Sophie Lecomte; Benedetto Falsini; Andrea Ciolfi; Marco Ferilli; Camilla Cappelletti; Marcello Niceta
Elesclomol-copper therapy improves neurodevelopment in two children with Menkes disease

Elesclomol-铜疗法改善了两位Menkes病患儿的神经发育。

JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2025-10-010
OAAI
Godoy-Molina, Elena; Serrano, Natalia L.; Jimenez-Gonzalez, Aquilina; Villaronga, Miquel; Perez-Bryan, Rosa M. Marques; Varela-Fernandez, Ruben; Lotz-Esquivel, Stephanie; Tunon, Alba Hevia; Trivedi, Prachi P.; Horn, Nina; Standing, Joseph F.; Mangas-Sanjuan, Victor; Capdevila, Merce; Mateos, Aurora; Broun, Denis; Lutsenko, Svetlana; Medina-Rivera, Ines; Artuch, Rafael; Jou, Cristina; Roldan, Monica; Arango-Sancho, Pedro; Saez-Villafane, Monica; Ortiz-de-Urbina, Juan J.; Pieras-Lopez, Angela; Duero, Marta; Farre, Rosa; Pijuan, Jordi; Hoenicka, Janet; Sacchettini, James C.; Petris, Michael J.; Gohil, Vishal M.; Palau, Francesc
Autophagy impairment is associated with enhanced satellite cell activation in muscle biopsies from younger late-onset Pompe disease patients
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
IF3
2025-07-010
PRE
Severa, Gianmarco; Bastu, Sultan; Borin, Giovanni Umberto; Decrouy, Xavier; Codina, Anna; Kefi, Kaouthar; Periou, Baptiste; Nadaj-Pakleza, Aleksandra; Lannes, Beatrice; Sacconi, Sabrina; Maurage, Claude-Alain; Tard, Celine; Jou, Cristina; Osorio, Andres Nascimiento; Taglietti, Valentina; Malfatti, Edoardo
Characterization of severe COL6-related dystrophy due to the recurrent variant COL6A1 c.930+189C>T

COL6相关严重型肌营养不良的表征：由复发性变异COL6A1 c.930+189C>T引起

Brain
IF11.7
2025-04-030
OA
A Reghan Foley; Véronique Bolduc; Fady Guirguis; Sandra Donkervoort; Ying Hu; Rotem Orbach; Riley M McCarty; Apurva Sarathy; Gina Norato; Beryl B Cummings; Monkol Lek; Anna Sarkozy; Russell J Butterfield; Janbernd Kirschner; Andrés Nascimento; Daniel Natera-de Benito; Susana Quijano-Roy; Tanya Stojkovic; Luciano Merlini; Giacomo Comi; Monique Ryan; Denise McDonald; Pinki Munot; Grace Yoon; Edward Leung; Erika Finanger; Meganne E Leach; James Collins; Cuixia Tian; Payam Mohassel; Sarah B Neuhaus; Dimah Saade; Benjamin T Cocanougher; Mary-Lynn Chu; Mena Scavina; Carla Grosmann; Randal Richardson; Brian D Kossak; Sidney M Gospe; Vikram Bhise; Gita Taurina; Baiba Lace; Monica Troncoso; Mordechai Shohat; Adel Shalata; Sophelia H S Chan; Manu Jokela; Johanna Palmio; Göknur Haliloğlu; Cristina Jou; Corine Gartioux; Herimela Solomon-Degefa; Carolin D Freiburg; Alvise Schiavinato; Haiyan Zhou; Sara Aguti; Yoram Nevo; Ichizo Nishino; Cecilia Jimenez-Mallebrera; Shireen R Lamandé; Valérie Allamand; Francesca Gualandi; Alessandra Ferlini; Daniel G MacArthur; Steve D Wilton; Raimund Wagener; Enrico Bertini; Francesco Muntoni; Carsten G Bönnemann
Proteins of the cancer cell secretome induce the protumoral microenvironment of diffuse intrinsic pontine glioma

癌症细胞分泌蛋白诱导弥漫性内生性脑桥胶质瘤的促肿瘤微环境

NEURO-ONCOLOGY ADVANCES
IF4.1
2025-01-010
OAAI
Baulenas-Farres, Merce; Paco, Sonia; Marino, Federica; Mohr, Jacqueline; Panisello, Carla; Balaguer-Lluna, Leire; Aschero, Rosario; Cuadrado-Vilanova, Maria; Resa-Pares, Claudia; Rodriguez, Eva; Marquez, Jesus; Menendez, Pablo; Jou, Cristina; Benitez, Raul; Benitez-Ribas, Daniel; Lavarino, Cinzia; Mora, Jaume; Carcaboso, Angel M.
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
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
Absence of Pathogenic Mutations and Strong Association With HLA-DRB1*11:01 in Statin-Naive Early-Onset Anti-HMGCR Necrotizing Myopathy
NEUROLOGY-NEUROIMMUNOLOGY & NEUROINFLAMMATION
IF7.5
2024-09-010
OAAI
Llanso, Laura; Segarra-Casas, Alba; Dominguez-Gonzalez, Cristina; Malfatti, Edoardo; Kapetanovic, Solange; Rodriguez-Santiago, Benjamin; de la Calle, Oscar; Blanco, Rosa; Dobrescu, Amelia; Nascimento-Osorio, Andres; Paipa, Andres; Hernandez-Lain, Aurelio; Jou, Cristina; Mariscal, Anais; Gonzalez-Mera, Laura; Arteche, Ana; Lleixa, Cinta; Caballero-Avila, Marta; Carbayo, Alvaro; Vesperinas, Ana; Querol, Luis; Gallardo, Eduard; Olive, Montse
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
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
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
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity
JOURNAL OF CLINICAL INVESTIGATION
IF13.6
2023-05-1515
OAAI
Planas-Serra, Laura; Launay, Nathalie; Goicoechea, Leire; Heron, Benedicte; Jou, Cristina; Julia-Palacios, Natalia; Ruiz, Montserrat; Fourcade, Stephane; Casasnovas, Carlos; De La Torre, Carolina; Gelot, Antoinette; Marsal, Maria; Loza-Alvarez, Pablo; Garcia-Cazorla, Angels; Fatemi, Ali; Ferrer, Isidre; Portero-Otin, Manel; Area-Gomez, Estela; Pujol, Aurora
SARS-CoV-2 transmission in teenagers and young adults in Futbol Club Barcelona's Multidisciplinary Sports Training Academy

巴塞罗那Futbol俱乐部多学科运动训练学院的青少年和年轻人的SARS-CoV-2传播

EUROPEAN JOURNAL OF PEDIATRICS
IF2.6
2023-03-141
OAAI
Hernandez-Garcia, Maria; Bassat, Quique; Fumado, Victoria; Rodas, Gil; Pi, Ramon; Miranda-Garcia, Maite; Girona-Alarcon, Monica; Catala, Marti; Alonso, Sergio; Alvarez-Lacalle, Enrique; Lopez, Daniel; Mele-Casas, Maria; Pons-Tomas, Gemma; F. de Sevilla, Mariona; Bonet-Carne, Elisenda; Fortuny, Claudia; Garcia-Miquel, Aleix; Jou, Cristina; Adroher, Cristina; Claverol, Joana; Cubells, Marta; Codina, Anna; Cuadras, Daniel; Gratacos, Eduard; Brotons, Pedro; Munoz-Almagro, Carmen; Prats, Clara; Garcia-Garcia, Juan Jose; Jordan, Iolanda
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
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
Munoz-Pujol, Gerard; Ortigoza-Escobar, Juan D.; Paredes-Fuentes, Abraham J.; Jou, Cristina; Ugarteburu, Olatz; Gort, Laura; Yubero, Delia; Garcia-Cazorla, Angels; O'Callaghan, Mar; Campistol, Jaume; Muchart, Jordi; Yepez, Vicente A.; Gusic, Mirjana; Gagneur, Julien; Prokisch, Holger; Artuch, Rafael; Ribes, Antonia; Urreizti, Roser; Tort, Frederic

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
C
C. Jimenez‐Mallebrera
H 指数:38论文数:194被引数:4,468
R
Rafael Artuch
H 指数:57论文数:411被引数:1.1万
C
C. Ortez
H 指数:28论文数:206被引数:3,016
D
Daniel Natera‐de Benito
H 指数:22论文数:191被引数:1,769
À
Àngels García‐Cazorla
H 指数:40论文数:673被引数:6,553
A
Anna Codina
H 指数:21论文数:125被引数:6,707
D
Dèlia Yubero
H 指数:19论文数:78被引数:1,136
R
Raquel Montero
H 指数:28论文数:84被引数:2,175
F
Francesc Palau
H 指数:48论文数:284被引数:1.0万