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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. 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.
Cardiac care of children with dystrophinopathy and females carrying DMD-gene variations.
Bourke J, Turner C, Bradlow W, Chikermane A, Coats C, Fenton M, Ilina M, Johnson A, Kapetanakis S, Kuhwald L, Morley-Davies A, Quinlivan R, Savvatis K, Schiava M, Yousef Z, Guglieri M. Bourke J, et al. Among authors: schiava m. Open Heart. 2022 Oct;9(2):e001977. doi: 10.1136/openhrt-2022-001977. Open Heart. 2022. PMID: 36252992 Free PMC article. Review.
Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy.
Moore U, Fernández-Simón E, Schiava M, Cox D, Gordish-Dressman H, James MK, Mayhew A, Wilson I, Guglieri M, Rufibach L, Blamire A, Carlier PG, Mori-Yoshimura M, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Pestronk A, Walter MC, Paradas C, Stojkovic T, Bravver E, Pegoraro E, Mendell JR, Bushby K, Diaz-Manera J, Straub V; Jain COS Consortium. Moore U, et al. Among authors: schiava m. Neuromuscul Disord. 2023 Feb;33(2):199-207. doi: 10.1016/j.nmd.2023.01.001. Epub 2023 Jan 6. Neuromuscul Disord. 2023. PMID: 36689846 Free article.
Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent Trajectories.
Muni-Lofra R, Juanola-Mayos E, Schiava M, Moat D, Elseed M, Michel-Sodhi J, Harris E, McCallum M, Moore U, Richardson M, Trainor C, Wong K, Malinova M, Bolano-Diaz C, Keogh MJ, Ghimenton E, Verdu-Diaz J, Mayhew A, Guglieri M, Straub V, James MK, Marini-Bettolo C, Diaz-Manera J. Muni-Lofra R, et al. Among authors: schiava m. Neurol Genet. 2023 Jul 10;9(4):e200084. doi: 10.1212/NXG.0000000000200084. eCollection 2023 Aug. Neurol Genet. 2023. PMID: 37440793 Free PMC article.
Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations.
Suárez-Calvet X, Fernández-Simón E, Natera D, Jou C, Pinol-Jurado P, Villalobos E, Ortez C, Monceau A, Schiava M, Codina A, Verdu-Díaz J, Clark J, Laidler Z, Mehra P, Gokul-Nath R, Alonso-Perez J, Marini-Bettolo C, Tasca G, Straub V, Guglieri M, Nascimento A, Diaz-Manera J. Suárez-Calvet X, et al. Among authors: schiava m. Cell Death Dis. 2023 Sep 7;14(9):596. doi: 10.1038/s41419-023-06103-5. Cell Death Dis. 2023. PMID: 37673877 Free PMC article.
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.
Schiava M, Ikenaga C, Topf A, Caballero-Ávila M, Chou TF, Li S, Wang F, Daw J, Stojkovic T, Villar-Quiles R, Nishino I, Inoue M, Nishimori Y, Saito Y, Katsuno M, Noda S, Ito C, Otsuka M, Nahir S, Manousakis G, Walk D, Quinn C, Alfano L, Sahenk Z, Tasca G, Monforte M, Sabatelli M, Bisogni G, Oldfors A, Rydeliu A, Pal E, Paradas C, Velez B, De Bleecker JL, Farugia ME, Longman C, Harms MB, Ralston S, Zanoteli E, Macedo Serafim da Silva A, Sotoca J, Juntas-Morales R, Bevilacqua J, Balart M, Talbot S, Straub V, Guglieri M, Marini-Bettolo C, Diaz-Manera J, Weihl CC. Schiava M, et al. Neurol Genet. 2023 Aug 15;9(5):e200093. doi: 10.1212/NXG.0000000000200093. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37588275 Free PMC article.
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: schiava m. 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.
Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry.
Martinez-Marin RJ, Reyes-Leiva D, Nascimento A, Muelas N, Dominguez-González C, Paradas C, Olivé M, García-Romero M, Pascual-Pascual SI, Grau JM, Barba-Romero MA, Gomez-Caravaca MT, de Las Heras J, Casquero P, Mendoza MD, de León JC, Gutierrez A, Morís G, Blanco-Lago R, Ramos-Fransi A, Pintós G, García-Antelo MJ, Rabasa M, Morgado Y, Usón M, Miralles FJ, Bárcena-Llona JE, Gómez-Belda AB, Pedraza-Hueso MI, Hortelano M, Colomé A, Garcia-Martin G, Lopez de Munain A, Jericó I, Galán-Dávila L, Pardo J, Salgueiro-Origlia G, Alonso-Pérez J, Pla-Junca F, Schiava M, Segovia-Simón S, Díaz-Manera J. Martinez-Marin RJ, et al. Among authors: schiava m. Neuromuscul Disord. 2024 Jan;34:1-8. doi: 10.1016/j.nmd.2023.10.001. Epub 2023 Nov 13. Neuromuscul Disord. 2024. PMID: 38087756
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: schiava m. 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.
Development of respiratory care guidelines for Duchenne muscular dystrophy in the UK: key recommendations for clinical practice.
Childs AM, Turner C, Astin R, Bianchi S, Bourke J, Cunningham V, Edel L, Edwards C, Farrant P, Heraghty J, James M, Massey C, Messer B, Michel Sodhi J, Murphy PB, Schiava M, Thomas A, Trucco F, Guglieri M. Childs AM, et al. Among authors: schiava m. Thorax. 2024 Apr 15;79(5):476-485. doi: 10.1136/thorax-2023-220811. Thorax. 2024. PMID: 38123347 Free PMC article. Review.
Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids.
Schiava M, Lofra RM, Bourke JP, Díaz-Manera J, James MK, Elseed MA, Malinova M, Michel-Sodhi J, Moat D, Ghimenton E, Mccallum M, Díaz CFB, Mayhew A, Wong K, Richardson M, Tasca G, Eglon G, Eagle M, Turner C, Heslop E, Straub V, Bettolo CM, Guglieri M. Schiava M, et al. Eur J Neurol. 2024 Jun;31(6):e16267. doi: 10.1111/ene.16267. Epub 2024 Mar 31. Eur J Neurol. 2024. PMID: 38556893 Free PMC article.
Single cell RNA sequencing of human FAPs reveals different functional stages in Duchenne muscular dystrophy.
Fernández-Simón E, Piñol-Jurado P, Gokul-Nath R, Unsworth A, Alonso-Pérez J, Schiava M, Nascimento A, Tasca G, Queen R, Cox D, Suarez-Calvet X, Díaz-Manera J. Fernández-Simón E, et al. Among authors: schiava m. Front Cell Dev Biol. 2024 Jul 9;12:1399319. doi: 10.3389/fcell.2024.1399319. eCollection 2024. Front Cell Dev Biol. 2024. PMID: 39045456 Free PMC article.
Disease-associated comorbidities, medication records and anthropometric measures in adults with Duchenne muscular dystrophy.
Schiava M, Lofra RM, Bourke JP, James MK, Díaz-Manera J, Elseed MA, Michel-Sodhi J, Moat D, Mccallum M, Mayhew A, Ghimenton E, Díaz CFB, Malinova M, Wong K, Richardson M, Tasca G, Grover E, Robinson EJ, Tanner S, Eglon G, Behar L, Eagle M, Turner C, Verdú-Díaz J, Heslop E, Straub V, Bettolo CM, Guglieri M. Schiava M, et al. Neuromuscul Disord. 2024 Aug;41:8-19. doi: 10.1016/j.nmd.2024.05.007. Epub 2024 May 14. Neuromuscul Disord. 2024. PMID: 38865917
Characterisation of a large, single-centre cohort of patients with Becker muscular dystrophy to inform standardised care guidelines.
Riguzzi P, Borland H, James MK, Bourke J, Bettolo CM, Lofra RM, Diaz-Manera J, Tasca G, Schiava M, ElSeed M, Harris E, Grover E, Geagan C, Diaz CB, Haagsma AB, Salman D, Reeves T, Kocak GS, Robinson E, Waldock P, McCallum M, Michell-Sodhi J, Moat D, Wong K, Topf A, Pegoraro E, Bello L, Straub V, Guglieri M. Riguzzi P, et al. Among authors: schiava m. J Neurol. 2025 Jun 7;272(7):448. doi: 10.1007/s00415-025-13126-9. J Neurol. 2025. PMID: 40483375 Free PMC article.
Levels of exercise exposure among people living with neuromuscular disorders: lessons learned from real-world data.
Richardson M, Kinet V, Wong K, Elseed M, Moat D, Harris E, Michel-Sodhi J, Bolano-Diaz C, McCallum M, Robinson E, Schiava M, Grover E, Salman D, Guglieri M, Tasca G, Ghimenton E, Diaz-Manera J, Mayhew A, James MK, Straub V, Marini-Bettolo C, Muni-Lofra R. Richardson M, et al. Among authors: schiava m. Neuromuscul Disord. 2025 Jul;52:105421. doi: 10.1016/j.nmd.2025.105421. Epub 2025 Jun 16. Neuromuscul Disord. 2025. PMID: 40582339 Free article.
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy.
Schiava M, Parkhurst Y, Henderson M, Polvikoski T, Valtcheva MV, Nishino I, Inoue M, Nishimori Y, Saito Y, Stojkovic T, Villar-Quiles RN, Romero NB, Evangelista T, Malfatti E, Souvannanorath S, Pegoraro E, Riguzzi P, Monforte M, Bortolani S, Torchia E, Sabatelli M, Tasca G, Straub V, Marini-Bettolo C, Guglieri M, Cetin H, Gelpi E, Klotz S, De Bleecker JL, Alonso-Jimenez A, Baets J, De Ridder W, De Jonghe P, Claeys KG, Thal DR, Bevilacqua JA, Luo S, Zhu W, Lin J, Papadimas G, Papadopoulos C, Zamba-Papanicolaou E, Xirou S, Pal E, Rodolico C, Kostera-Pruszczyk A, Kierdaszuk B, Kaminska A, Muelas N, Vilchez JJ, Domínguez-González C, Hernandez-Lain A, Alonso-Perez J, Nedkova-Hristova V, Aledo C, Oldfors A, Badrising UA, Kushlaf H, Lloyd TE, Ikenaga C, Alfano LN, Quinn CC, Walk D, Vorgerd M, Weihl C, Olivé M, Diaz-Manera J; VCP International Study Group. Schiava M, et al. Neurol Genet. 2025 Jul 16;11(4):e200265. doi: 10.1212/NXG.0000000000200265. eCollection 2025 Aug. Neurol Genet. 2025. PMID: 40678441 Free PMC article.
Height, weight, and body mass index trajectories and their correlation with functional outcome assessments in boys with Duchenne muscular dystrophy.
Schiava M, Dang UJ, Wood C, Wong SC, Ward LM, Lofra RM, Mayhew A, Martens WB, Gregory S, Griggs RC, Guglieri M; FOR‐DMD Muscle Study Group. Schiava M, et al. Dev Med Child Neurol. 2026 Mar;68(3):429-440. doi: 10.1111/dmcn.16437. Epub 2025 Aug 31. Dev Med Child Neurol. 2026. PMID: 40887311 Free PMC article. Clinical Trial.
Respiratory function in Becker muscular dystrophy: a comprehensive longitudinal study.
Riguzzi P, Grover E, Schiava M, James MK, Diaz-Manera J, Tasca G, Bourke J, Borland H, Moat D, Elseed M, Michell-Sodhi J, Bolaño-Díaz C, Wong K, Barreto Haagsma A, Robinson E, Reeves T, Waldock P, Harris E, McCallum M, Gadaleta G, Pegoraro E, Bello L, Messer B, Muni-Lofra R, Straub V, Marini Bettolo C, Guglieri M. Riguzzi P, et al. Among authors: schiava m. J Neurol Neurosurg Psychiatry. 2026 Apr 15;97(5):456-463. doi: 10.1136/jnnp-2025-337953. J Neurol Neurosurg Psychiatry. 2026. PMID: 41760395 Free article.