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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: cabrera serrano m. Brain. 2025 May 13;148(5):1707-1722. doi: 10.1093/brain/awae371. Brain. 2025. PMID: 39531736
Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Weisburd B, Folland C, Monahan G, Scriba CK, Dofash L, Johari M, Grosz BR, Ellis M, Fearnley LG, Tankard R, Read J, Merve A, Dominik N, Vegezzi E, Schnekenberg RP, Fernandez-Eulate G, Masingue M, Giovannini D, Delatycki MB, Storey E, Gardner M, Amor DJ, Nicholson G, Vucic S, Henderson RD, Robertson T, Dyke J, Fabian V, Mastaglia F, Davis MR, Kennerson M; OPDM study group; Quinlivan R, Hammans S, Tucci A, Bahlo M, McLean CA, Laing NG, Stojkovic T, Houlden H, Hanna MG, Deveson IW, Lockhart PJ, Lamont PJ, Fahey MC, Bugiardini E, Ravenscroft G. Cortese A, et al. Among authors: cabrera serrano m. Nat Commun. 2024 Oct 17;15(1):8955. doi: 10.1038/s41467-024-53151-2. Nat Commun. 2024. PMID: 39419991 Free PMC article. No abstract available.
Safety, tolerability, and efficacy of subcutaneous efgartigimod in patients with chronic inflammatory demyelinating polyradiculoneuropathy (ADHERE): a multicentre, randomised-withdrawal, double-blind, placebo-controlled, phase 2 trial.
Allen JA, Lin J, Basta I, Dysgaard T, Eggers C, Guptill JT, Gwathmey KG, Hewamadduma C, Hofman E, Hussain YM, Kuwabara S, Le Masson G, Leypoldt F, Chang T, Lipowska M, Lowe M, Lauria G, Querol L, Simu MA, Suresh N, Tse A, Ulrichts P, Van Hoorick B, Yamasaki R, Lewis RA, van Doorn PA; ADHERE Study Group. Allen JA, et al. Lancet Neurol. 2024 Oct;23(10):1013-1024. doi: 10.1016/S1474-4422(24)00309-0. Lancet Neurol. 2024. PMID: 39304241 Clinical Trial.
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Weisburd B, Folland C, Monahan G, Scriba CK, Dofash L, Johari M, Grosz BR, Ellis M, Fearnley LG, Tankard R, Read J, Merve A, Dominik N, Vegezzi E, Schnekenberg RP, Fernandez-Eulate G, Masingue M, Giovannini D, Delatycki MB, Storey E, Gardner M, Amor DJ, Nicholson G, Vucic S, Henderson RD, Robertson T, Dyke J, Fabian V, Mastaglia F, Davis MR, Kennerson M; OPDM study group; Quinlivan R, Hammans S, Tucci A, Bahlo M, McLean CA, Laing NG, Stojkovic T, Houlden H, Hanna MG, Deveson IW, Lockhart PJ, Lamont PJ, Fahey MC, Bugiardini E, Ravenscroft G. Cortese A, et al. Among authors: cabrera serrano m. Nat Commun. 2024 Jul 27;15(1):6327. doi: 10.1038/s41467-024-49950-2. Nat Commun. 2024. PMID: 39068203 Free PMC article.
A splice-altering homozygous variant in COX18 causes severe sensory-motor neuropathy with oculofacial apraxia.
Mavillard F, Guerra-Castellano A, Guerrero-Gómez D, Rivas E, Cantero G, Servian-Morilla E, Folland C, Ravenscroft G, Martín MA, Miranda-Vizuete A, Cabrera-Serrano M, Diaz-Moreno I, Paradas C. Mavillard F, et al. Among authors: cabrera serrano m. Biochim Biophys Acta Mol Basis Dis. 2024 Oct;1870(7):167330. doi: 10.1016/j.bbadis.2024.167330. Epub 2024 Jul 1. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 38960055 Free article. No abstract available.
The Iberian Roma Population Variant Server (IRPVS).
Mavillard F, Perez-Florido J, Ortuño FM, Valladares A, Álvarez-Villegas ML, Roldán G, Carmona R, Soriano M, Susarte S, Fuentes P, López-López D, Nuñez-Negrillo AM, Carvajal A, Morgado Y, Arteaga D, Ufano R, Mir P, Gamella JF, Dopazo J, Paradas C, Cabrera-Serrano M. Mavillard F, et al. Among authors: cabrera serrano m. J Genet Genomics. 2024 Jul;51(7):769-773. doi: 10.1016/j.jgg.2024.03.006. Epub 2024 Mar 26. J Genet Genomics. 2024. PMID: 38548101 No abstract available.
Ablation of the carboxy-terminal end of MAMDC2 causes a distinct muscular dystrophy.
Mavillard F, Servian-Morilla E, Dofash L, Rojas-Marcos I, Folland C, Monahan G, Gutierrez-Gutierrez G, Rivas E, Hernández-Lain A, Valladares A, Cantero G, Morales JM, Laing NG, Paradas C, Ravenscroft G, Cabrera-Serrano M. Mavillard F, et al. Among authors: cabrera serrano m. Brain. 2023 Dec 1;146(12):5235-5248. doi: 10.1093/brain/awad256. Brain. 2023. PMID: 37503746
Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus).
Pitarch Castellano I, Cabrera-Serrano M, Calvo Medina R, Cattinari MG, Espinosa García S, Fernández-Ramos JA, García Campos O, Gómez-Andrés D, Grimalt Calatayud MA, Gutiérrez Martínez AJ, Ibáñez Albert E, Kapetanovic García S, Madruga-Garrido M, Martínez-Moreno M, Medina Cantillo J, Melián Suárez AI, Moreno Escribano A, Munell F, Nascimento Osorio A, Pascual-Pascual SI, Povedano M, Santana Casiano IM, Vázquez-Costa JF. Pitarch Castellano I, et al. Among authors: cabrera serrano m. Neurologia (Engl Ed). 2022 Apr;37(3):216-228. doi: 10.1016/j.nrleng.2021.07.002. Epub 2022 Feb 28. Neurologia (Engl Ed). 2022. PMID: 35241415 Free article.
33 results