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Page 1
ASAH1 pathogenic variants associated with acid ceramidase deficiency: Farber disease and spinal muscular atrophy with progressive myoclonic epilepsy.
Elsea SH, Solyom A, Martin K, Harmatz P, Mitchell J, Lampe C, Grant C, Selim L, Mungan NO, Guelbert N, Magnusson B, Sundberg E, Puri R, Kapoor S, Arslan N, DiRocco M, Zaki M, Ozen S, Mahmoud IG, Ehlert K, Hahn A, Gokcay G, Torcoletti M, Ferreira CR. Elsea SH, et al. Among authors: magnusson b. Hum Mutat. 2020 Sep;41(9):1469-1487. doi: 10.1002/humu.24056. Epub 2020 Jun 24. Hum Mutat. 2020. PMID: 32449975
Acid Ceramidase Deficiency is characterized by a unique plasma cytokine and ceramide profile that is altered by therapy.
Dworski S, Lu P, Khan A, Maranda B, Mitchell JJ, Parini R, Di Rocco M, Hugle B, Yoshimitsu M, Magnusson B, Makay B, Arslan N, Guelbert N, Ehlert K, Jarisch A, Gardner-Medwin J, Dagher R, Terreri MT, Lorenco CM, Barillas-Arias L, Tanpaiboon P, Solyom A, Norris JS, He X, Schuchman EH, Levade T, Medin JA. Dworski S, et al. Among authors: magnusson b. Biochim Biophys Acta Mol Basis Dis. 2017 Feb;1863(2):386-394. doi: 10.1016/j.bbadis.2016.11.031. Epub 2016 Dec 1. Biochim Biophys Acta Mol Basis Dis. 2017. PMID: 27915031 Free PMC article.
Consensus-based recommendations for the management of juvenile dermatomyositis.
Bellutti Enders F, Bader-Meunier B, Baildam E, Constantin T, Dolezalova P, Feldman BM, Lahdenne P, Magnusson B, Nistala K, Ozen S, Pilkington C, Ravelli A, Russo R, Uziel Y, van Brussel M, van der Net J, Vastert S, Wedderburn LR, Wulffraat N, McCann LJ, van Royen-Kerkhof A. Bellutti Enders F, et al. Among authors: magnusson b. Ann Rheum Dis. 2017 Feb;76(2):329-340. doi: 10.1136/annrheumdis-2016-209247. Epub 2016 Aug 11. Ann Rheum Dis. 2017. PMID: 27515057 Free PMC article. Review.
The European network for care of children with paediatric rheumatic diseases: care across borders.
Dolezalova P, Anton J, Avcin T, Beresford MW, Brogan PA, Constantin T, Egert Y, Foeldvari I, Foster HE, Hentgen V, Kone-Paut I, Kuemmerle-Deschner JB, Lahdenne P, Magnusson B, Martini A, McCann L, Minden K, Ozen S, Schoemaker C, Quartier P, Ravelli A, Rumba-Rozenfelde I, Ruperto N, Vastert S, Wouters C, Zulian F, Wulffraat NM. Dolezalova P, et al. Among authors: magnusson b. Rheumatology (Oxford). 2019 Jul 1;58(7):1188-1195. doi: 10.1093/rheumatology/key439. Rheumatology (Oxford). 2019. PMID: 30668879
2016 American College of Rheumatology/European League Against Rheumatism Criteria for Minimal, Moderate, and Major Clinical Response in Juvenile Dermatomyositis: An International Myositis Assessment and Clinical Studies Group/Paediatric Rheumatology International Trials Organisation Collaborative Initiative.
Rider LG, Aggarwal R, Pistorio A, Bayat N, Erman B, Feldman BM, Huber AM, Cimaz R, Cuttica RJ, de Oliveira SK, Lindsley CB, Pilkington CA, Punaro M, Ravelli A, Reed AM, Rouster-Stevens K, van Royen-Kerkhof A, Dressler F, Magalhaes CS, Constantin T, Davidson JE, Magnusson B, Russo R, Villa L, Rinaldi M, Rockette H, Lachenbruch PA, Miller FW, Vencovsky J, Ruperto N; International Myositis Assessment and Clinical Studies Group and the Paediatric Rheumatology International Trials Organisation. Rider LG, et al. Among authors: magnusson b. Arthritis Rheumatol. 2017 May;69(5):911-923. doi: 10.1002/art.40060. Epub 2017 Apr 6. Arthritis Rheumatol. 2017. PMID: 28382778 Free PMC article.
2016 American College of Rheumatology/European League Against Rheumatism Criteria for Minimal, Moderate, and Major Clinical Response in Juvenile Dermatomyositis: An International Myositis Assessment and Clinical Studies Group/Paediatric Rheumatology International Trials Organisation Collaborative Initiative.
Rider LG, Aggarwal R, Pistorio A, Bayat N, Erman B, Feldman BM, Huber AM, Cimaz R, Cuttica RJ, de Oliveira SK, Lindsley CB, Pilkington CA, Punaro M, Ravelli A, Reed AM, Rouster-Stevens K, van Royen-Kerkhof A, Dressler F, Saad Magalhaes C, Constantin T, Davidson JE, Magnusson B, Russo R, Villa L, Rinaldi M, Rockette H, Lachenbruch PA, Miller FW, Vencovsky J, Ruperto N; International Myositis Assessment and Clinical Studies Group and the Paediatric Rheumatology International Trials Organisation. Rider LG, et al. Among authors: magnusson b. Ann Rheum Dis. 2017 May;76(5):782-791. doi: 10.1136/annrheumdis-2017-211401. Ann Rheum Dis. 2017. PMID: 28385804 Free PMC article.
Predictors of poor response to methotrexate in polyarticular-course juvenile idiopathic arthritis: analysis of the PRINTO methotrexate trial.
Vilca I, Munitis PG, Pistorio A, Ravelli A, Buoncompagni A, Bica B, Campos L, Häfner R, Hofer M, Ozen S, Huemer C, Bae SC, Sztajnbok F, Arguedas O, Foeldvari I, Huppertz HI, Gamir ML, Magnusson B, Dressler F, Uziel Y, van Rossum MA, Hollingworth P, Cawkwell G, Martini A, Ruperto N; Pediatric Rheumatology International Trials Organisation (PRINTO). Vilca I, et al. Among authors: magnusson b. Ann Rheum Dis. 2010 Aug;69(8):1479-83. doi: 10.1136/ard.2009.120840. Epub 2010 Jun 4. Ann Rheum Dis. 2010. PMID: 20525842 Free article. Clinical Trial.
The PRINTO evidence-based proposal for glucocorticoids tapering/discontinuation in new onset juvenile dermatomyositis patients.
Giancane G, Lavarello C, Pistorio A, Oliveira SK, Zulian F, Cuttica R, Fischbach M, Magnusson B, Pastore S, Marini R, Martino S, Pagnier A, Soler C, Staņēvicha V, Ten Cate R, Uziel Y, Vojinovic J, Fueri E, Ravelli A, Martini A, Ruperto N; Paediatric Rheumatology International Trials Organisation (PRINTO). Giancane G, et al. Among authors: magnusson b. Pediatr Rheumatol Online J. 2019 May 22;17(1):24. doi: 10.1186/s12969-019-0326-5. Pediatr Rheumatol Online J. 2019. PMID: 31118099 Free PMC article. Clinical Trial.
Prednisone versus prednisone plus ciclosporin versus prednisone plus methotrexate in new-onset juvenile dermatomyositis: a randomised trial.
Ruperto N, Pistorio A, Oliveira S, Zulian F, Cuttica R, Ravelli A, Fischbach M, Magnusson B, Sterba G, Avcin T, Brochard K, Corona F, Dressler F, Gerloni V, Apaz MT, Bracaglia C, Cespedes-Cruz A, Cimaz R, Couillault G, Joos R, Quartier P, Russo R, Tardieu M, Wulffraat N, Bica B, Dolezalova P, Ferriani V, Flato B, Bernard-Medina AG, Herlin T, Trachana M, Meini A, Allain-Launay E, Pilkington C, Vargova V, Wouters C, Angioloni S, Martini A; Paediatric Rheumatology International Trials Organisation (PRINTO). Ruperto N, et al. Among authors: magnusson b. Lancet. 2016 Feb 13;387(10019):671-678. doi: 10.1016/S0140-6736(15)01021-1. Epub 2015 Nov 30. Lancet. 2016. PMID: 26645190 Clinical Trial.
420 results