Persones / Equip Humà

Natalia Alexandra Julià Palacios

Buscador de publicacions

Publicacions

  • Garcia-Cazorla A, Verdura E, Julià-Palacios NA, Anderson EN, Goicoechea L, Planas-Serra L, Tsogtbaatar E, Dsouza NR, Schlüter A, Urreizti R, Tarnowski JM, Gavrilova RH, Ruiz M, Rodríguez-Palmero A, Fourcade S, Cogné B, Besnard T, Vincent M, Bézieau S, Folmes CD, Zimmermann MT, Klee EW, Pandey UB, Artuch-Iriberri R, Cousin MA, Pujol A and SHMT2 Working Group.

    Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome.

    ACTA NEUROPATHOLOGICA . 140(6): 971-975. Nº de cites: 20

    [doi:10.1007/s00401-020-02223-w]

  • Del-Prado-Sánchez C, Armstrong-Moron J, Veiga C, Grixolli-Mazzon S, Garcia-Cazorla A, Julià-Palacios NA and Morales-Ballús M.

    Cataract in You-Hoover-Fong syndrome: TELO2 deficiency

    OPHTHALMIC GENETICS . 41(6): 656-658. Nº de cites: 5

    [doi:10.1080/13816810.2020.1821382]

  • Mantegazza R, O'Brien FL, Yountz M, Howard JF Jr and REGAIN study group.

    Consistent improvement with eculizumab across muscle groups in myasthenia gravis

    Annals of Clinical and Translational Neurology . 7(8): 1327-1339. Nº de cites: 18

    [doi:10.1002/acn3.51121]

  • Armangue-Salvador T, Olivé-Cirera G, Martínez-Hernandez E, Sepulveda M, Ruiz-Garcia R, Muñoz-Batista M, Ariño H, González V, Felipe-Rucián A, Jesús Martínez-González M, Cantarín-Extremera V, Concepción Miranda-Herrero M, Monge-Galindo L, Tomás-Vila M, Miravet E, Málaga I, Arrambide G, Auger C, Tintoré M, Montalban X, Vanderver A, Graus F, Saiz A, Dalmau J and Spanish Pediatric anti-MOG Study Group.

    Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study.

    LANCET NEUROLOGY . 19(3): 234-246. Nº de cites: 186

    [doi:10.1016/S1474-4422(19)30488-0]

  • Murai H, Uzawa A, Suzuki Y, Imai T, Shiraishi H, Suzuki H, Okumura M, O'Brien F, Wang JJ, Fujita KP, Utsugisawa K and REGAIN Study Group.

    Long-term efficacy and safety of eculizumab in Japanese patients with generalized myasthenia gravis: A subgroup analysis of the REGAIN open-label extension study.

    JOURNAL OF THE NEUROLOGICAL SCIENCES . 407: 116419-116419. Nº de cites: 12

    [doi:10.1016/j.jns.2019.08.004]

  • Andersen H, Mantegazza R, Wang JJ, O'Brien F, Patra K, Howard JF Jr and REGAIN Study Group.

    Eculizumab improves fatigue in refractory generalized myasthenia gravis.

    QUALITY OF LIFE RESEARCH . 28(8): 2247-2254. Nº de cites: 31

    [doi:10.1007/s11136-019-02148-2]

  • Muppidi S, Utsugisawa K, Benatar M, Murai H, Barohn RJ, Illa I, Jacob S, Vissing J, Burns TM, Kissel JT, Nowak RJ, Andersen H, Casasnovas C, de Bleecker JL, Vu TH, Mantegazza R, O'Brien FL, Wang JJ, Fujita KP, Howard JF Jr and Regain Study Group.

    Long-term safety and efficacy of eculizumab in generalized myasthenia gravis.

    MUSCLE & NERVE . 60(1): 14-24. Nº de cites: 146

    [doi:10.1002/mus.26447]

  • Julià-Palacios NA, Boronat S, Delgado I, Felipe A and Macaya A.

    Pediatric Klüver-Bucy Syndrome: Report of Two Cases and Review of the Literature.

    Neuropediatrics . 49(2): 104-111. Nº de cites: 5

    [doi:10.1055/s-0037-1609036]

  • 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 . : .

    [doi:10.1002/jimd.12776]