Publicacions
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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 . 11: 125-125. Nº de cites: 23
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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 . 132(Pt 10): 2699-2711. Nº de cites: 105
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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 . 71(4): 377-378. Nº de cites: 1
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Jimenez-Mallebrera C, Nascimento-Osorio A, Cusi V, Corbera JR, Rolland MO, Froissart R, Olivé M, Ferrer I and Colomer J.
Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period
Histopathology . 54(6): 765-768. Nº de cites: 3
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Quijano-Roy S, Mbieleu B, Bönnemann CG, Jeannet PY, Colomer J, Clarke NF, Cuisset JM, Roper H, De Meirleir L, D'Amico A, Ben Yaou R, Nascimento-Osorio A, Barois A, Demay L, Bertini E, Ferreiro A, Sewry CA, Romero NB, Ryan M, Muntoni F, Guicheney P, Richard P, Bonne G and Estournet B.
De novo LMNA mutations cause a new form of congenital muscular dystrophy
ANNALS OF NEUROLOGY . 64(2): 177-186. Nº de cites: 178
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Garcia-Cazorla A, Duarte S, Serrano M, Nascimento-Osorio A, Ormazabal-Herrero A, Carrilho I, Briones P, Montoya J, Garesse R, Sala-Castellvi P, Pineda M and Artuch-Iriberri R.
Mitochondrial diseases mimicking neuro transmitter defects
Mitochondrion . 8(3): 273-278. Nº de cites: 37
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Garcia-Cazorla A, Quadros EV, Nascimento-Osorio A, Garcia-Silva MT, Briones P, Montoya J, Ormazabal-Herrero A, Artuch-Iriberri R, Sequeira JM, Blau N, Arenas J, Pineda M and Ramaekers VT.
Mitochondrial diseases associated with cerebral folate deficiency
Neurology . 70(16): 1360-1362. Nº de cites: 61
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Colomer J, Gooding R, Angelicheva D, King RH, Guillén-Navarro E, Parman Y, Nascimento-Osorio A, Conill J and Kalaydjieva L.
Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2
NEUROMUSCULAR DISORDERS . 16(7): 449-453. Nº de cites: 34
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Colomer J, Müller JS, Vernet A, Nascimento-Osorio A, Pons-Odena M, Gonzalez V, Abicht A and Lochmüller H.
Long-term improvement of slow-channel congenital myasthenic syndrome with fluoxetine
NEUROMUSCULAR DISORDERS . 16(5): 329-333. Nº de cites: 28
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Pineda M, Ormazabal-Herrero A, López-Gallardo E, Nascimento-Osorio A, Solano A, Herrero MD, Vilaseca MA, Briones P, Ibañez-Toda L, Montoya J and Artuch-Iriberri R.
Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion
ANNALS OF NEUROLOGY . 59(2): 394-398. Nº de cites: 83