PReS-FINAL-2330: Canakinumab treatment in patients with HIDS

Por Antón, J, Calvo, I, Robles, A, Yagüe, J, Aróstegui, J, Viana, R, Bhansali, S, Abrams, K
Publicado em 2013

Mevalonate kinase somatic mosaicism and bigenic genotypes may explain heterogeneity in mevalonate kinase deficiency

Por Shinar, Y, Hashkes, PJ, Cohen, R, Kessel, A, Tirosh, I, Padeh, S, Arostegui, J, Livneh, A
Publicado no Pediatr Rheumatol Online J (2015)

Whole Exome Sequencing reveals a NLRP3 mutation in exon 5 in a patient with CINCA

Por Gomes, S Melo, Arostegui, J, Omoyinmi, E, Standing, A, Klein, N, Lachmann, H, Hawkins, P, Brogan, P
Publicado no Pediatr Rheumatol Online J (2015)

Late onset of the cryopyrin-associated periodic syndrome (CAPS) associated with low level of somatic mosaicism in six patients

Por Rowczenio, D, Gomes, S Melo, Aróstegui, J, Omoyinmi, E, Gonzalez-Roca, E, Standing, A, Eleftheriou, D, Klein, N, Brogan, P, Lachmann, H, Hawkins, P
Publicado no Pediatr Rheumatol Online J (2015)

PW03-016 – Blau prospective cohort study: articular outcomes

Por Rose, CD, Cimaz, R, Thomee, C, Khubchandani, R, Espada, G, Russo, R, Harjacek, M, Bader-Meunier, B, Brissaud, P, Wulffraat, N, Vastert, S, Merino, R, Naranjo-Hernandez, A, Oliveira-Knupp, S, Mackensen, F, Arostegui, J, Anton, J, Fernandez-Martin, J, Wouters, C
Publicado em 2013

OR3-002 – Blau Syndrome cohort study: ocular outcome

Por Rose, CD, Cimaz, R, Thomee, C, Khubchandani, R, Espada, G, Russo, R, Harjacek, M, Bader-Meunier, B, Brissaud, P, Wulffraat, N, Vastert, S, Merino, R, Naranjo-Hernandez, A, Knupp, S Oliveira, Mackenson, F, Arostegui, J, Lopez, J Anton, Fernandez-Martin, J, Wouters, C
Publicado em 2013

Analysis of Correlation between an Accelerometer-Based Algorithm for Detecting Parkinsonian Gait and UPDRS Subscales

Por Rodríguez-Molinero, Alejandro, Samà, Albert, Pérez-López, Carlos, Rodríguez-Martín, Daniel, Alcaine, Sheila, Mestre, Berta, Quispe, Paola, Giuliani, Benedetta, Vainstein, Gabriel, Browne, Patrick, Sweeney, Dean, Quinlan, Leo R., Moreno Arostegui, J. Manuel, Bayes, Àngels, Lewy, Hadas, Costa, Alberto, Annicchiarico, Roberta, Counihan, Timothy, Laighin, Gearòid Ò., Cabestany, Joan
Publicado no Front Neurol (2017)

Corrigendum: Analysis of Correlation between an Accelerometer-Based Algorithm for Detecting Parkinsonian Gait and UPDRS Subscales

Por Rodríguez-Molinero, Alejandro, Samà, Albert, Pérez-López, Carlos, Rodríguez-Martín, Daniel, Alcaine, Sheila, Mestre, Berta, Quispe, Paola, Giuliani, Benedetta, Vainstein, Gabriel, Browne, Patrick, Sweeney, Dean, Quinlan, Leo R., Moreno Arostegui, J. Manuel, Bayes, Àngels, Lewy, Hadas, Costa, Alberto, Annicchiarico, Roberta, Counihan, Timothy, Laighin, Gearòid Ò., Cabestany, Joan
Publicado no Front Neurol (2017)

The Eurofever Registry for autoinflammatory diseases: results of the first 15 months of enrolment

Por Touitou I, Woo P, Lachmann H, Dolezalova P, Rose C, Hentgen V, Wouters C, Vesely R, Stojanov S, Simon A, Arostegui J, Kummerle-Deschner J, Ozdogan H, Neven B, Girschick H, Kone-Paut I, Hofer M, De Benedetti F, Ozen S, Frenkel J, Toplak N, Martini A, Ruperto N, Gattorno M
Publicado em 2011-09-01

The Eurofever Registry for autoinflammatory diseases: results of the first 15 months of enrolment

Por Toplak, N, Frenkel, J, Ozen, S, De Benedetti, F, Hofer, M, Kone-Paut, I, Girschick, H, Neven, B, Ozdogan, H, Kummerle-Deschner, J, Arostegui, J, Simon, A, Stojanov, S, Vesely, R, Wouters, C, Hentgen, V, Rose, C, Dolezalova, P, Lachmann, H, Woo, P, Touitou, I, Martini, A, Ruperto, N, Gattorno, M
Publicado em 2011

PW02-018 - Impact of PSTPIP1 mutaions on clinical phenotype

Por Holzinger, D, Lohse, P, Faßl, S, Austermann, J, Vogl, T, de Jager, W, Holland, S, Gattorno, M, Rodriguez-Gallego, C, Arostegui, J, Fessatou, S, Isidor, B, Ito, K, Epple, H-J, Bernstein, J, Jeng, M, Lionetti, G, Ong, P, Hinze, C, Sampson, B, Sunderkoetter, C, Foell, D, Chae, J, Ombrello, A, Brady, J, Aksentijevich, I, Roth, J
Publicado em 2013