Publications
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Thompson K, Mai N, Oláhová M, Scialó F, Formosa LE, Stroud DA, Garrett M, Lax NZ, Robertson FM, Jou-Munoz C, Nascimento-Osorio A, Ortez-Gonzalez CI, Jimenez-Mallebrera C, Hardy SA, He L, Brown GK, Marttinen P, McFarland R, Sanz A, Battersby BJ, Bonnen PE, Ryan MT, Chrzanowska-Lightowlers ZM, Lightowlers RN and Taylor RW.
OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect
EMBO Molecular Medicine . 10(11): 9060-9060. Number of citations: 48
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San Millan B and Jou-Munoz C.
Histopathology in HCM.
Global cardiology science & practice . 2018(3): 20-20.
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Deyà-Martinez A, Esteve-Solé A, Vélez-Tirado N, Celis-Passini V, Costa-Colomer J, Cols M, Jou-Munoz C, Vlagea A, Plaza-Martín AM, Juan-Otero M and Alsina L.
Sirolimus as an alternative treatment in patients with granulomatous-lymphocytic lung disease and humoral immunodeficiency with impaired regulatory T cells
PEDIATRIC ALLERGY AND IMMUNOLOGY . 29(4): 425-432. Number of citations: 25
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Ulate-Campos A, Petanas-Argemi J, Rebollo M, Jou-Munoz C, Sierra-March C, Armstrong-Moron J and Fons-Estupina C.
X-linked adrenoleukodystrophy with an atypical radiological pattern
REVISTA DE NEUROLOGIA . 66(7): 237-240. Number of citations: 4
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Soria Gondek A, Julià V, Jou-Munoz C, Salvador-Hernandez H, Rovira-Zurriaga C and Tarrado X.
Adolescent Hydrocele Carrying a Surprise: A Case of Papillary Cystadenoma of the Epididymis
UROLOGY . 112: 172-175. Number of citations: 2
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Rodríguez-García MA, Del Rio-Baquero LM, Ortez-Gonzalez CI, Jou-Munoz C, Vigo-Morancho M, Medina J, Febrer A, Ramon-Krauel M, Diaz-Manera J, Olive-Valls M, González-Mera L, Nascimento-Osorio A and Jimenez-Mallebrera C.
Differences in Adipose Tissue and Lean Mass Distribution in Patients with Collagen VI Related Myopathies Are Associated with Disease Severity and Physical Ability
FRONTIERS IN AGING NEUROSCIENCE . 9: 268-268. Number of citations: 4
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Romero-Moya D, Santos-Ocaña C, Castaño J, Garrabou G, Rodríguez-Gómez JA, Ruiz-Bonilla V, Bueno C, González-Rodriguez P, Giorgetti A, Perdiguero E, Prieto C, Moren-Nuñez C, Fernández-Ayala DJ, Cascajo MV, Velasco I, Canals JM, Montero-Sanchez R, Yubero-Siles D, Jou-Munoz C, López-Barneo J, Cardellach F, Muñoz-Cánoves P, Artuch-Iriberri R, Navas P and Menéndez P.
Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency
Stem Cells . 35(7): 1687-1703. Number of citations: 24
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González-Fernández S, Sabra S, Oltra M, Parra-Hernandez JA, Jou-Munoz C, Gonzalez-Bosquet E and Gómez-Roig MD.
Case report of recurrent abdominal wall endometrioma at the same location after nine years of its first excision
Journal of Fertilization: in vitro - IVF - Worldwide, Reproductive Mediicne, Genetics & Stem Cell Biology . 5: 1.
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Fernández-Marmiesse A, Carrascosa-Romero MC, Alfaro Ponce B, Nascimento-Osorio A, Ortez-Gonzalez CI, Romero N, Palacios L, Jimenez-Mallebrera C, Jou-Munoz C, Gouveia S and Couce ML.
Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement
NEUROMUSCULAR DISORDERS . 27(2): 188-192. Number of citations: 25
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Llano-Diez M, Ortez CI, Gay JA, Alvarez-Cabado L, Jou-Munoz C, Medina J, Nascimento-Osorio A and Jimenez-Mallebrera C.
Digital PCR quantification of miR-30c and miR-181a as serum biomarkers for Duchenne muscular dystrophy
NEUROMUSCULAR DISORDERS . 27(1): 15-23. Number of citations: 23