Publicaciones
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Jiménez E, Garcia-Cazorla A, Colomer J, Nascimento-Osorio A, Iriondo-Sanz M and Campistol-Plana J.
Hypotonia in the neonatal period: 12 years' experience
REVISTA DE NEUROLOGIA . 56(2): 72-78. Nº de citas: 5
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Calpena E, Casado-Rio M, Martínez-Rubio D, Nascimento-Osorio A, Colomer J, Gargallo-Burriel E, Garcia-Cazorla A, Palau F, Artuch-Iriberri R and Espinós C.
5-Oxoprolinuria in Heterozygous Patients for 5-Oxoprolinase (OPLAH) Missense Changes
JIMD Reports . 7: 123-128. Nº de citas: 11
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Navarro-Sastre A, Tort F, Garcia-Villoria J, Pons MR, Nascimento-Osorio A, Colomer J, Campistol-Plana J, Yoldi ME, López-Gallardo E, Montoya J, Unceta M, Martinez MJ, Briones P and Ribes A.
Mitochondrial DNA depletion syndrome: New descriptions and the use of citrate synthase as a helpful tool to better characterise the patients
MOLECULAR GENETICS AND METABOLISM . 107(3): 409-415. Nº de citas: 28
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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: 28
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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-kappa B Signaling
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY . 71(10): 894-906. Nº de citas: 21
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Guergueltcheva V, Müller JS, Dusl M, Senderek J, Oldfors A, Lindbergh C, Maxwell S, Colomer J, Jimenez-Mallebrera C, Nascimento-Osorio A, Vilchez JJ, Muelas N, Kirschner J, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Schlotter B, Schoser B, Herrmann R, Voit T, Steinlein OK, Najafi A, Urtizberea A, Soler DM, Muntoni F, Hanna MG, Chaouch A, Straub V, Bushby K, Palace J, Beeson D, Abicht A and Lochmüller H.
Congenital myasthenic syndrome with tubular aggregates caused by GFPT1 mutations
JOURNAL OF NEUROLOGY . 259(5): 838-850. Nº de citas: 61
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Chaouch A, Müller JS, Guergueltcheva V, Dusl M, Schara U, Rakocevic-Stojanovic V, Lindberg C, Scola RH, Werneck LC, Colomer J, Nascimento-Osorio A, Vilchez JJ, Muelas N, Argov Z, Abicht A and Lochmüller H.
A retrospective clinical study of the treatment of slow-channel congenital myasthenic syndrome
JOURNAL OF NEUROLOGY . 259(3): 474-481. Nº de citas: 45
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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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Mormeneo E, Jimenez-Mallebrera C, Palomer X, De Nigris V, Vázquez-Carrera M, Orozco A, Nascimento-Osorio A, Colomer J, Lerin C and Gómez-Foix AM.
PGC-1 alpha Induces Mitochondrial and Myokine Transcriptional Programs and Lipid Droplet and Glycogen Accumulation in Cultured Human Skeletal Muscle Cells
PLoS One . 7(1): . Nº de citas: 41
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Senderek J, Müller JS, Dusl M, Strom TM, Guergueltcheva V, Diepolder I, Laval SH, Maxwell S, Cossins J, Krause S, Muelas N, Vilchez JJ, Colomer J, Jimenez-Mallebrera C, Nascimento-Osorio A, Nafissi S, Kariminejad A, Nilipour Y, Bozorgmehr B, Najmabadi H, Rodolico C, Sieb JP, Steinlein OK, Schlotter B, Schoser B, Kirschner J, Herrmann R, Voit T, Oldfors A, Lindbergh C, Urtizberea A, von der Hagen M, Hübner A, Palace J, Bushby K, Straub V, Beeson D, Abicht A and Lochmüller H.
Hexosamine Biosynthetic Pathway Mutations Cause Neuromuscular Transmission Defect
AMERICAN JOURNAL OF HUMAN GENETICS . 88(2): 162-172. Nº de citas: 114