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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2001 4
2002 2
2003 2
2005 4
2006 5
2007 3
2008 4
2009 3
2010 3
2011 3
2012 11
2013 8
2014 8
2015 6
2016 7
2017 10
2018 12
2019 15
2020 14
2021 12
2022 14
2023 10
2024 5

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147 results

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Page 1
Genotype-phenotype correlations in recessive titinopathies.
Savarese M, Vihola A, Oates EC, Barresi R, Fiorillo C, Tasca G, Jokela M, Sarkozy A, Luo S, Díaz-Manera J, Ehrstedt C, Rojas-García R, Sáenz A, Muelas N, Lonardo F, Fodstad H, Qureshi T, Johari M, Välipakka S, Luque H, Petiot P, de Munain AL, Pane M, Mercuri E, Torella A, Nigro V, Astrea G, Santorelli FM, Bruno C, Kuntzer T, Illa I, Vílchez JJ, Julien C, Ferreiro A, Malandrini A, Zhao CB, Casar-Borota O, Davis M, Muntoni F, Hackman P, Udd B. Savarese M, et al. Among authors: rojas garcia r. Genet Med. 2020 Dec;22(12):2029-2040. doi: 10.1038/s41436-020-0914-2. Epub 2020 Aug 11. Genet Med. 2020. PMID: 32778822 Free article.
Safety and efficacy of eculizumab in anti-acetylcholine receptor antibody-positive refractory generalised myasthenia gravis (REGAIN): a phase 3, randomised, double-blind, placebo-controlled, multicentre study.
Howard JF Jr, Utsugisawa K, Benatar M, Murai H, Barohn RJ, Illa I, Jacob S, Vissing J, Burns TM, Kissel JT, Muppidi S, Nowak RJ, O'Brien F, Wang JJ, Mantegazza R; REGAIN Study Group. Howard JF Jr, et al. Lancet Neurol. 2017 Dec;16(12):976-986. doi: 10.1016/S1474-4422(17)30369-1. Epub 2017 Oct 20. Lancet Neurol. 2017. PMID: 29066163 Clinical Trial.
Denervation-activated STAT3-IL-6 signalling in fibro-adipogenic progenitors promotes myofibres atrophy and fibrosis.
Madaro L, Passafaro M, Sala D, Etxaniz U, Lugarini F, Proietti D, Alfonsi MV, Nicoletti C, Gatto S, De Bardi M, Rojas-García R, Giordani L, Marinelli S, Pagliarini V, Sette C, Sacco A, Puri PL. Madaro L, et al. Among authors: rojas garcia r. Nat Cell Biol. 2018 Aug;20(8):917-927. doi: 10.1038/s41556-018-0151-y. Epub 2018 Jul 26. Nat Cell Biol. 2018. PMID: 30050118 Free PMC article.
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 Jr; Regain Study Group. Muppidi S, et al. Muscle Nerve. 2019 Jul;60(1):14-24. doi: 10.1002/mus.26447. Epub 2019 Mar 8. Muscle Nerve. 2019. PMID: 30767274 Free PMC article.
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology.
van Rheenen W, van der Spek RAA, Bakker MK, van Vugt JJFA, Hop PJ, Zwamborn RAJ, de Klein N, Westra HJ, Bakker OB, Deelen P, Shireby G, Hannon E, Moisse M, Baird D, Restuadi R, Dolzhenko E, Dekker AM, Gawor K, Westeneng HJ, Tazelaar GHP, van Eijk KR, Kooyman M, Byrne RP, Doherty M, Heverin M, Al Khleifat A, Iacoangeli A, Shatunov A, Ticozzi N, Cooper-Knock J, Smith BN, Gromicho M, Chandran S, Pal S, Morrison KE, Shaw PJ, Hardy J, Orrell RW, Sendtner M, Meyer T, Başak N, van der Kooi AJ, Ratti A, Fogh I, Gellera C, Lauria G, Corti S, Cereda C, Sproviero D, D'Alfonso S, Sorarù G, Siciliano G, Filosto M, Padovani A, Chiò A, Calvo A, Moglia C, Brunetti M, Canosa A, Grassano M, Beghi E, Pupillo E, Logroscino G, Nefussy B, Osmanovic A, Nordin A, Lerner Y, Zabari M, Gotkine M, Baloh RH, Bell S, Vourc'h P, Corcia P, Couratier P, Millecamps S, Meininger V, Salachas F, Mora Pardina JS, Assialioui A, Rojas-García R, Dion PA, Ross JP, Ludolph AC, Weishaupt JH, Brenner D, Freischmidt A, Bensimon G, Brice A, Durr A, Payan CAM, Saker-Delye S, Wood NW, Topp S, Rademakers R, Tittmann L, Lieb W, Franke A, Ripke S, Braun A, Kraft J, Whiteman DC, Olsen CM, Uitterlinden AG, Hofman A, Rietschel … See abstract for full author list ➔ van Rheenen W, et al. Among authors: rojas garcia r. Nat Genet. 2021 Dec;53(12):1636-1648. doi: 10.1038/s41588-021-00973-1. Epub 2021 Dec 6. Nat Genet. 2021. PMID: 34873335 Free PMC article.
Paraproteinemic neuropathies.
Rojas-García R, Gallardo E, Illa I. Rojas-García R, et al. Presse Med. 2013 Jun;42(6 Pt 2):e225-34. doi: 10.1016/j.lpm.2013.02.329. Epub 2013 Apr 22. Presse Med. 2013. PMID: 23618626 Review.
Profiling TREM2 expression in amyotrophic lateral sclerosis.
Jericó I, Vicuña-Urriza J, Blanco-Luquin I, Macias M, Martinez-Merino L, Roldán M, Rojas-Garcia R, Pagola-Lorz I, Carbayo A, De Luna N, Zelaya V, Mendioroz M. Jericó I, et al. Among authors: rojas garcia r. Brain Behav Immun. 2023 Mar;109:117-126. doi: 10.1016/j.bbi.2023.01.013. Epub 2023 Jan 18. Brain Behav Immun. 2023. PMID: 36681358 Free article. Review.
Clinical and Laboratory Features in Anti-NF155 Autoimmune Nodopathy.
Martín-Aguilar L, Lleixà C, Pascual-Goñi E, Caballero-Ávila M, Martínez-Martínez L, Díaz-Manera J, Rojas-García R, Cortés-Vicente E, Turon-Sans J, de Luna N, Suárez-Calvet X, Gallardo E, Rajabally Y, Scotton S, Jacobs BC, Baars A, Cortese A, Vegezzi E, Höftberger R, Zimprich F, Roesler C, Nobile-Orazio E, Liberatore G, Hiew FL, Martínez-Piñeiro A, Carvajal A, Piñar-Morales R, Usón-Martín M, Albertí O, López-Pérez MÁ, Márquez F, Pardo-Fernández J, Muñoz-Delgado L, Cabrera-Serrano M, Ortiz N, Bartolomé M, Duman Ö, Bril V, Segura-Chávez D, Pitarokoili K, Steen C, Illa I, Querol L. Martín-Aguilar L, et al. Among authors: rojas garcia r. Neurol Neuroimmunol Neuroinflamm. 2021 Nov 2;9(1):e1098. doi: 10.1212/NXI.0000000000001098. Print 2022 Jan. Neurol Neuroimmunol Neuroinflamm. 2021. PMID: 34728497 Free PMC article.
Antibodies to the Caspr1/contactin-1 complex in chronic inflammatory demyelinating polyradiculoneuropathy.
Pascual-Goñi E, Fehmi J, Lleixà C, Martín-Aguilar L, Devaux J, Höftberger R, Delmont E, Doppler K, Sommer C, Radunovic A, Carvajal A, Smyth S, Williams L, Mazanec R, Potočková V, Hinds N, Cassereau J, Viala K, Lefilliatre M, Nicolas G, Foley P, Leypoldt F, Keddie S, Lunn MP, Zimprich F, Nunkoo VS, Löscher WN, Martínez-Martínez L, Díaz-Manera J, Rojas-Garcia R, Illa I, Rinaldi S, Querol L. Pascual-Goñi E, et al. Among authors: rojas garcia r. Brain. 2021 May 7;144(4):1183-1196. doi: 10.1093/brain/awab014. Brain. 2021. PMID: 33880507
147 results