Andrés Nascimento Osorio

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 2012. 259(5): 838-850. Nº de citas: 61

[doi:10.1007/s00415-011-6262-z]

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 2012. 259(3): 474-481. Nº de citas: 45

[doi:10.1007/s00415-011-6204-9]

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. 2012(27): 155-312.

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 2012. 7(1): . Nº de citas: 41

[doi:10.1371/journal.pone.0029985]

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 2011. 88(2): 162-172. Nº de citas: 114

[doi:10.1016/j.ajhg.2011.01.008]

Martorell-Sampol L, Nascimento MT, Colomé-Roura R, Genovés-Escarré J, Naudo-Lahoz M and Nascimento-Osorio A.

Four sisters compound heterozygotes for the pre- and full mutation in fragile X syndrome and a complete inactivation of X-functional chromosome: implications for genetic counseling

JOURNAL OF HUMAN GENETICS 2011. 56(1): 87-90. Nº de citas: 4

[doi:10.1038/jhg.2010.140]

Martí R, Nascimento-Osorio A, Colomer J, Lara MC, López-Gallardo E, Ruiz-Pesini E, Montoya J, Andreu AL, Briones P and Pineda M.

Hearing Loss in a Patient With the Myopathic Form of Mitochondrial DNA Depletion Syndrome and a Novel Mutation in the TK2 Gene

PEDIATRIC RESEARCH 2010. 68(2): 151-154. Nº de citas: 18

[doi:10.1203/PDR.0b013e3181e33bbe]

Raymond F, Métairon S, Kussmann M, Colomer J, Nascimento-Osorio A, Mormeneo E, García-Martínez C and Gómez-Foix AM.

Comparative gene expression profiling between human cultured myotubes and skeletal muscle tissue

BMC Genomics 2010. 11: 125-125. Nº de citas: 25

[doi:10.1186/1471-2164-11-125]

Sanchez-Torrent L, Noguera-Julián A, Pérez-Dueñas B, Nascimento-Osorio A and Colomer J.

Miller Fisher syndrome in paediatrics: A description of 3 cases

ANALES DE PEDIATRIA 2009. 71(4): 377-378. Nº de citas: 1

[doi:10.1016/j.anpedi.2009.07.011]

Rotthier A, Baets J, De Vriendt E, Jacobs A, Auer-Grumbach M, Lévy N, Bonello-Palot N, Kilic SS, Weis J, Nascimento-Osorio A, Swinkels M, Kruyt MC, Jordanova A, De Jonghe P and Timmerman V.

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation

BRAIN 2009. 132(Pt 10): 2699-2711. Nº de citas: 117

[doi:10.1093/brain/awp198]