Publicaciones
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Palanca D, Garcia-Cazorla A, Ortiz J, Jou-Munoz C, Cusi V, Suñol M, Toll T, Perez B, Ormazabal-Herrero A, Fowler B and Artuch-Iriberri R.
cblE-Type Homocystinuria Presenting with Features of Haemolytic-Uremic Syndrome in the Newborn Period
JIMD Reports . 8: 57-62. Nº de citas: 6
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Juan-Mateu J, Rodríguez MJ, Nascimento-Osorio A, Jimenez-Mallebrera C, González-Quereda L, Rivas E, Paradas C, Madruga M, Sánchez-Ayaso P, Jou-Munoz C, González-Mera L, Munell F, Roig-Quilis M, Rabasa M, Hernández-Lain A, Díaz-Manera J, Gallardo E, Pascual J, Verdura E, Colomer J, Baiget M, Olivé M and Gallano P.
Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy
ORPHANET JOURNAL OF RARE DISEASES . 7: 82-82. Nº de citas: 42
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Paco-Mercader S, Ferrer I, Jou-Munoz C, Cusi V, Corbera J, Torner-Rubies F, Gualandi F, Sabatelli P, Orozco A, Gómez-Foix AM, Colomer J, Nascimento-Osorio A and Jimenez-Mallebrera C.
Muscle Fiber Atrophy and Regeneration Coexist in Collagen VI-Deficient Human Muscle: Role of Calpain-3 and Nuclear Factor-?B Signaling
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY . 71(10): 894-906. Nº de citas: 23
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O'Callaghan-Gordo M, Emperador S, López-Gallardo E, Jou-Munoz C, Buján N, Montero-Sanchez R, Garcia-Cazorla A, Gonzaga D, Ferrer I, Briones P, Ruiz-Pesini E, Pineda M, Artuch-Iriberri R and Montoya J.
New mitochondrial DNA mutations in tRNA associated with three severe encephalopamyopathic phenotypes: neonatal, infantile, and childhood onset
Neurogenetics . 13(3): 245-250. Nº de citas: 18
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Jimenez-Mallebrera C, Paco-Mercader S, Kalko S, Jou-Munoz C, Rodríguez-García MA, Cusi V, Joan R. Corbera Torredeflò, Colomer J, Nascimento-Osorio A and Torner-Rubies F.
Perfil de expresión génica en la distrofia muscular congénita de Ullrich
REVISTA DE NEUROLOGIA . 2012(27): 155-312.
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Fabra MA, Paredes-Fuentes AJ, Torralba Carnerero M, Moreno Férnandez de Ayala DJ, Arroyo Luque A, Sánchez Cuesta A, Staiano C, Sanchez-Pintos P, Luz Couce M, Tomás M, Marco-Hernández AV, Orellana C, Martínez F, Roselló M, Caro A, Oltra Soler JS, Monfort S, Sánchez A, Rausell D, Vitoria I, Del Toro M, Garcia-Cazorla A, Julià-Palacios NA, Jou-Munoz C, Yubero-Siles D, López LC, Hernández Camacho JD, López Lluch G, Ballesteros Simarro M, Rodríguez Aguilera JC, Calvo GB, Cascajo Almenara MV, Artuch-Iriberri R and Santos-Ocaña C.
New variants expand the neurological phenotype of COQ7 deficiency.
JOURNAL OF INHERITED METABOLIC DISEASE . : .