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Page 1
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Ávila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-de Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, Alonso-Jiménez A, Kostera-Pruszczyk A, Miralles F, Shin JH, Bevilacqua JA, Olivé M, Vorgerd M, Kley R, Brady S, Williams T, Domínguez-González C, Papadimas GK, Warman-Chardon J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos-Fransi A, Rodolico C, Hewamadduma C, Cetin H, García-García J, Pál E, Farrugia ME, Lamont PJ, Quinn C, Nedkova-Hristova V, Peric S, Luo S, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz-Manera J; VCP International Study Group; VCP International Study Group. Schiava M, et al. Among authors: badrising u. J Neurol Neurosurg Psychiatry. 2022 Jul 27:jnnp-2022-328921. doi: 10.1136/jnnp-2022-328921. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35896379 Free PMC article.
A protocol to develop clinical guidelines for inclusion-body myositis.
Jones KL, Sejersen T, Amato AA, Hilton-Jones D, Schmidt J, Wallace AC, Badrising UA, Rose MR; IBM Guideline Development Group. Jones KL, et al. Muscle Nerve. 2016 Apr;53(4):503-7. doi: 10.1002/mus.25036. Epub 2016 Feb 22. Muscle Nerve. 2016. PMID: 26800092 Free PMC article. Review.
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.
Mul K, Lemmers RJLF, Kriek M, van der Vliet PJ, van den Boogaard ML, Badrising UA, Graham JM Jr, Lin AE, Brand H, Moore SA, Johnson K, Evangelista T, Töpf A, Straub V, Kapetanovic García S, Sacconi S, Tawil R, Tapscott SJ, Voermans NC, van Engelen BGM, Horlings CGC, Shaw ND, van der Maarel SM. Mul K, et al. Neurology. 2018 Aug 7;91(6):e562-e570. doi: 10.1212/WNL.0000000000005958. Epub 2018 Jul 6. Neurology. 2018. PMID: 29980640 Free PMC article.
Safety and efficacy of intravenous bimagrumab in inclusion body myositis (RESILIENT): a randomised, double-blind, placebo-controlled phase 2b trial.
Hanna MG, Badrising UA, Benveniste O, Lloyd TE, Needham M, Chinoy H, Aoki M, Machado PM, Liang C, Reardon KA, de Visser M, Ascherman DP, Barohn RJ, Dimachkie MM, Miller JAL, Kissel JT, Oskarsson B, Joyce NC, Van den Bergh P, Baets J, De Bleecker JL, Karam C, David WS, Mirabella M, Nations SP, Jung HH, Pegoraro E, Maggi L, Rodolico C, Filosto M, Shaibani AI, Sivakumar K, Goyal NA, Mori-Yoshimura M, Yamashita S, Suzuki N, Katsuno M, Murata K, Nodera H, Nishino I, Romano CD, Williams VSL, Vissing J, Auberson LZ, Wu M, de Vera A, Papanicolaou DA, Amato AA; RESILIENT Study Group. Hanna MG, et al. Lancet Neurol. 2019 Sep;18(9):834-844. doi: 10.1016/S1474-4422(19)30200-5. Lancet Neurol. 2019. PMID: 31397289 Clinical Trial.
Intravenous immunoglobulin treatment for mild Guillain-Barré syndrome: an international observational study.
Verboon C, Harbo T, Cornblath DR, Hughes RAC, van Doorn PA, Lunn MP, Gorson KC, Barroso F, Kuwabara S, Galassi G, Lehmann HC, Kusunoki S, Reisin RC, Binda D, Cavaletti G, Jacobs BC; IGOS consortium; GOS consortium. Verboon C, et al. J Neurol Neurosurg Psychiatry. 2021 Oct;92(10):1080-1088. doi: 10.1136/jnnp-2020-325815. Epub 2021 Jun 8. J Neurol Neurosurg Psychiatry. 2021. PMID: 34103340 Free PMC article.
1st FSHD European Trial Network workshop:Working towards trial readiness across Europe.
Voermans NC, Vriens-Munoz Bravo M, Padberg GW, Laforêt P; FSHD European Trial Network workshop study group; van Alfen N, Attarian S, Badrising UA, Bugiardini P, Camano González P, Carlier RY, Desguerre I, Diaz-Manera J, Dumonceaux J, van Engelen BG, Evangelista T, Khosla S, Lópezde Munain A, van der Maarel SM, Mejat A, Monforte M, Montagnese F, Mul K, Oflazer P, Porter B, Quijano Roy S, Ricci E, Sacconi S, Sansone VA, Schoser B, Statland J, Stumpe E, Tasca G, Tawil R, Turner C, Vissing J. Voermans NC, et al. Among authors: badrising ua. Neuromuscul Disord. 2021 Sep;31(9):907-918. doi: 10.1016/j.nmd.2021.07.013. Epub 2021 Jul 24. Neuromuscul Disord. 2021. PMID: 34404575 No abstract available.
Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.
Esteller D, Schiava M, Verdú-Díaz J, Villar-Quiles RN, Dibowski B, Venturelli N, Laforet P, Alonso-Pérez J, Olive M, Domínguez-González C, Paradas C, Vélez B, Kostera-Pruszczyk A, Kierdaszuk B, Rodolico C, Claeys K, Pál E, Malfatti E, Souvannanorath S, Alonso-Jiménez A, de Ridder W, De Smet E, Papadimas G, Papadopoulos C, Xirou S, Luo S, Muelas N, Vilchez JJ, Ramos-Fransi A, Monforte M, Tasca G, Udd B, Palmio J, Sri S, Krause S, Schoser B, Fernández-Torrón R, López de Munain A, Pegoraro E, Farrugia ME, Vorgerd M, Manousakis G, Chanson JB, Nadaj-Pakleza A, Cetin H, Badrising U, Warman-Chardon J, Bevilacqua J, Earle N, Campero M, Díaz J, Ikenaga C, Lloyd TE, Nishino I, Nishimori Y, Saito Y, Oya Y, Takahashi Y, Nishikawa A, Sasaki R, Marini-Bettolo C, Guglieri M, Straub V, Stojkovic T, Carlier RY, Díaz-Manera J. Esteller D, et al. Among authors: badrising u. J Neurol. 2023 Dec;270(12):5849-5865. doi: 10.1007/s00415-023-11862-4. Epub 2023 Aug 21. J Neurol. 2023. PMID: 37603075 Free PMC article.
Correction to: Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP‑mediated disease reveals characteristic features useful for diagnosis.
Esteller D, Schiava M, Verdú-Díaz J, Villar-Quiles RN, Dibowski B, Venturelli N, Laforet P, Alonso-Pérez J, Olive M, Domínguez-González C, Paradas C, Vélez B, Kostera-Pruszczyk A, Kierdaszuk B, Rodolico C, Claeys K, Pál E, Malfatti E, Souvannanorath S, Alonso-Jiménez A, de Ridder W, De Smet E, Papadimas G, Papadopoulos C, Xirou S, Luo S, Muelas N, Vilchez JJ, Ramos-Fransi A, Monforte M, Tasca G, Udd B, Palmio J, Sri S, Krause S, Schoser B, Fernández-Torrón R, López de Munain A, Pegoraro E, Farrugia ME, Vorgerd M, Manousakis G, Chanson JB, Nadaj-Pakleza A, Cetin H, Badrising U, Warman-Chardon J, Bevilacqua J, Earle N, Campero M, Díaz J, Ikenaga C, Lloyd TE, Nishino I, Nishimori Y, Saito Y, Oya Y, Takahashi Y, Nishikawa A, Sasaki R, Marini-Bettolo C, Guglieri M, Straub V, Stojkovic T, Carlier RY, Díaz-Manera J. Esteller D, et al. Among authors: badrising u. J Neurol. 2024 Apr;271(4):2147-2148. doi: 10.1007/s00415-023-12178-z. J Neurol. 2024. PMID: 38349561 Free PMC article. No abstract available.
55 results