Long-term safety and efficacy of eculizumab in generalized myasthenia gravis
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, REGAIN Study Group
MUSCLE AND NERVE. (ISSN/ISBN: 0148639X).
2019
Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
Pant DC, Dorboz I, Schluter A, Fourcade S, Launay N, Joya J, Aguilera-Albesa S, Yoldi ME, Casasnovas C, Willis MJ, Ruiz M, Ville D, Lesca G, Siquier-Pernet K, Desguerre I, Yan H, Wang J, Burmeister M, Brady L, Tarnopolsky M, Cornet C, Rubbini D, Terriente J, James KN, Musaev D, Zaki MS, Patterson MC, Lanpher BC, Klee EW, Pinto E Vairo F, Wohler E, Sobreira NLM, Cohen JS, Maroofian R, Galehdari H, Mazaheri N, Shariati G, Colleaux L, Rodriguez D, Gleeson JG, Pujades C, Fatemi A, Boespflug-Tanguy O, Pujol A
JOURNAL OF CLINICAL INVESTIGATION. (ISSN/ISBN: 00219738).
2019
A novel mutation in the GFAP gene expands the phenotype of Alexander disease
Casasnovas C, Verdura E, Vélez V, Schlüter A, Pons-Escoda A, Homedes C, Ruiz M, Fourcade S, Launay N, Pujol A
JOURNAL OF MEDICAL GENETICS. (ISSN/ISBN: 00222593).
2019
Inhibition of Gsk3b Reduces Nfkb1 Signaling and Rescues Synaptic Activity to Improve the Rett Syndrome Phenotype in Mecp2-Knockout Mice
Jorge-Torres O., Szczesna K., Roa L., Casal C., Gonzalez-Somermeyer L., Soler M., Velasco C., Martínez-San Segundo P., Petazzi P., Sáez M., Delgado-Morales R., Fourcade S., Pujol A., Huertas D., Llobet A., Guil S., Esteller M.
CELL REPORTS (ISSN/ISBN: 22111247). 23 (6) : 1665-1677
2018
Evaluation of afferent pain pathways in adrenomyeloneuropathic patients
Yagüe S., Veciana M., Casasnovas C., Ruiz M., Pedro J., Valls-Solé J., Pujol A.
CLINICAL NEUROPHYSIOLOGY (ISSN/ISBN: 13882457). 129 (3) : 507-515
2018
Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy.
Abbott JA, Meyer-Schuman R, Lupo V, Feely S, Mademan I, Oprescu SN, Griffin LB, Alberti MA, Casasnovas C, Aharoni S, Basel-Vanagaite L, Züchner S, De Jonghe P, Baets J, Shy ME, Espinós C, Demeler B, Antonellis A, Francklyn C
HUMAN MUTATION (ISSN/ISBN: 10597794)
2018
SIRT2 in age-related neurodegenerative disorders
Fourcade S., Outeiro T., Pujol A.
AGING-US (ISSN/ISBN: 19454589). 10 (3) : 295-296
2018
Epigenomic signature of adrenoleukodystrophy predicts compromised oligodendrocyte differentiation.
Schlüter A, Sandoval J, Fourcade S, Díaz-Lagares A, Ruiz M, Casaccia P, Esteller M, Pujol A
BRAIN PATHOLOGY (ISSN/ISBN: 10156305)
2018
Regional variation of Guillain-Barré syndrome
Doets AY, Verboon C, van den Berg B, Harbo T, Cornblath DR, Willison HJ, Islam Z, Attarian S, Barroso FA, Bateman K, Benedetti L, van den Bergh P, Casasnovas C, Cavaletti G, Chavada G, Claeys KG, Dardiotis E, Davidson A, van Doorn PA, Feasby TE, Galassi G, Gorson KC, Hartung HP, Hsieh ST, Hughes RAC, Illa I, Islam B, Kusunoki S, Kuwabara S, Lehmann HC, Miller JAL, Mohammad QD, Monges S, Nobile Orazio E, Pardo J, Pereon Y, Rinaldi S, Querol L, Reddel SW, Reisin RC, Shahrizaila N, Sindrup SH, Waqar W, Jacobs BC, IGOS Consortium
BRAIN; A JOURNAL OF NEUROLOGY. (ISSN/ISBN: 00068950). 141(10): 2866-2877
2018
Aberrant regulation of the GSK-3β/NRF2 axis unveils a novel therapy for adrenoleukodystrophy.
Ranea-Robles P, Launay N, Ruiz M, Calingasan NY, Dumont M, Naudí A, Portero-Otín M, Pamplona R, Ferrer I, Beal MF, Fourcade S, Pujol A
EMBO MOLECULAR MEDICINE. (ISSN/ISBN: 17574676).
2018
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