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Page 1
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.
Dofash LNH, Miles LB, Saito Y, Rivas E, Calcinotto V, Oveissi S, Serrano RJ, Templin R, Ramm G, Rodger A, Haywood J, Ingley E, Clayton JS, Taylor RL, Folland CL, Groth D, Hock DH, Stroud DA, Gorokhova S, Donkervoort S, Bönnemann CG, Sud M, VanNoy GE, Mangilog BE, Pais L, O'Donnell-Luria A, Madruga-Garrido M, Scala M, Fiorillo C, Baratto S, Traverso M, Malfatti E, Bruno C, Zara F, Paradas C, Ogata K, Nishino I, Laing NG, Bryson-Richardson RJ, Cabrera-Serrano M, Ravenscroft G. Dofash LNH, et al. Among authors: paradas c. Brain. 2024 Nov 12:awae371. doi: 10.1093/brain/awae371. Online ahead of print. Brain. 2024. PMID: 39531736
TK2 mutation presenting as indolent myopathy.
Paradas C, Gutiérrez Ríos P, Rivas E, Carbonell P, Hirano M, DiMauro S. Paradas C, et al. Neurology. 2013 Jan 29;80(5):504-6. doi: 10.1212/WNL.0b013e31827f0ff7. Epub 2013 Jan 9. Neurology. 2013. PMID: 23303857 Free PMC article.
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.
Servián-Morilla E, Takeuchi H, Lee TV, Clarimon J, Mavillard F, Area-Gómez E, Rivas E, Nieto-González JL, Rivero MC, Cabrera-Serrano M, Gómez-Sánchez L, Martínez-López JA, Estrada B, Márquez C, Morgado Y, Suárez-Calvet X, Pita G, Bigot A, Gallardo E, Fernández-Chacón R, Hirano M, Haltiwanger RS, Jafar-Nejad H, Paradas C. Servián-Morilla E, et al. Among authors: paradas c. EMBO Mol Med. 2016 Nov 2;8(11):1289-1309. doi: 10.15252/emmm.201505815. Print 2016 Nov. EMBO Mol Med. 2016. PMID: 27807076 Free PMC article.
A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.
Cabrera-Serrano M, Mavillard F, Biancalana V, Rivas E, Morar B, Hernández-Laín A, Olive M, Muelas N, Khan E, Carvajal A, Quiroga P, Diaz-Manera J, Davis M, Ávila R, Domínguez C, Romero NB, Vílchez JJ, Comas D, Laing NG, Laporte J, Kalaydjieva L, Paradas C. Cabrera-Serrano M, et al. Among authors: paradas c. Neurology. 2018 Jul 24;91(4):e339-e348. doi: 10.1212/WNL.0000000000005862. Epub 2018 Jun 27. Neurology. 2018. PMID: 29950440 Free PMC article.
A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain.
Carbonell-Corvillo P, Tristán-Clavijo E, Cabrera-Serrano M, Servián-Morilla E, García-Martín G, Villarreal-Pérez L, Rivas-Infante E, Area-Gómez E, Chamorro-Muñoz MI, Gil-Gálvez A, Miranda-Vizuete A, Martinez-Mir A, Laing N, Paradas C. Carbonell-Corvillo P, et al. Among authors: paradas c. Neuromuscul Disord. 2018 Oct;28(10):828-836. doi: 10.1016/j.nmd.2018.07.006. Epub 2018 Jul 26. Neuromuscul Disord. 2018. PMID: 30166250 Free article.
Altered myogenesis and premature senescence underlie human TRIM32-related myopathy.
Servián-Morilla E, Cabrera-Serrano M, Rivas-Infante E, Carvajal A, Lamont PJ, Pelayo-Negro AL, Ravenscroft G, Junckerstorff R, Dyke JM, Fletcher S, Adams AM, Mavillard F, Fernández-García MA, Nieto-González JL, Laing NG, Paradas C. Servián-Morilla E, et al. Among authors: paradas c. Acta Neuropathol Commun. 2019 Mar 1;7(1):30. doi: 10.1186/s40478-019-0683-9. Acta Neuropathol Commun. 2019. PMID: 30823891 Free PMC article.
NOVEL intronic CAPN3 Roma mutation alters splicing causing RNA mediated decay.
Mavillard F, Madruga-Garrido M, Rivas E, Servián-Morilla E, Ávila-Polo R, Marcos I, Morón FJ, Paradas C, Cabrera-Serrano M. Mavillard F, et al. Among authors: paradas c. Ann Clin Transl Neurol. 2019 Nov;6(11):2328-2333. doi: 10.1002/acn3.50910. Epub 2019 Oct 14. Ann Clin Transl Neurol. 2019. PMID: 31612648 Free PMC article.
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.
Servián-Morilla E, Cabrera-Serrano M, Johnson K, Pandey A, Ito A, Rivas E, Chamova T, Muelas N, Mongini T, Nafissi S, Claeys KG, Grewal RP, Takeuchi M, Hao H, Bönnemann C, Lopes Abath Neto O, Medne L, Brandsema J, Töpf A, Taneva A, Vilchez JJ, Tournev I, Haltiwanger RS, Takeuchi H, Jafar-Nejad H, Straub V, Paradas C. Servián-Morilla E, et al. Among authors: paradas c. Acta Neuropathol. 2020 Mar;139(3):565-582. doi: 10.1007/s00401-019-02117-6. Epub 2020 Jan 3. Acta Neuropathol. 2020. PMID: 31897643 Free PMC article.
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: paradas c. 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.
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