Publications
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Yeo CJJ, Tizzano E and Darras BT.
Challenges and opportunities in spinal muscular atrophy therapeutics.
LANCET NEUROLOGY . 23(2): 205-218. Number of citations: 23
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Servais L, Day JW, De Vivo DC, Kirschner J, Mercuri E, Muntoni F, Proud CM, Shieh PB, Tizzano E, Quijano-Roy S, Desguerre I, Saito K, Faulkner E, Benguerba KM, Raju D, LaMarca N, Sun R, Anderson FA and Finkel RS.
Real-World Outcomes in Patients with Spinal Muscular Atrophy Treated with Onasemnogene Abeparvovec Monotherapy: Findings from the RESTORE Registry.
Journal of neuromuscular diseases . 11(2): 425-442. Number of citations: 27
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Ricci M, Cicala G, Capasso A, Coratti G, Fiori S, Cutrona C, D'Amico A, Sansone VA, Bruno C, Messina S, Mongini T, Coccia M, Siciliano G, Pegoraro E, Masson R, Filosto M, Comi GP, Corti S, Ronchi D, Maggi L, D'Angelo MG, Vacchiano V, Ticci C, Ruggiero L, Verriello L, Ricci FS, Berardinelli AL, Maioli MA, Garibaldi M, Nigro V, Previtali SC, Pera MC, Tizzano E, Pane M, Tiziano FD and Mercuri E.
Clinical Phenotype of Pediatric and Adult Patients With Spinal Muscular Atrophy With Four SMN2 Copies: Are They Really All Stable?
ANNALS OF NEUROLOGY . 94(6): 1126-1135. Number of citations: 14
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Proud CM, Mercuri E, Finkel RS, Kirschner J, De Vivo DC, Muntoni F, Saito K, Tizzano E, Desguerre I, Quijano-Roy S, Benguerba K, Raju D, Faulkner E and Servais L.
Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification.
Annals of Clinical and Translational Neurology . 10(11): 2155-2160. Number of citations: 16
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Blasco-Pérez L, Iranzo-Nuez L, López-Ortega R, Martínez-Cruz D, Camprodon-Gómez M, Tenés A, Antolín M, Tizzano E and García-Arumí E.
An Integral Approach to the Molecular Diagnosis of Tuberous Sclerosis Complex: The Role of Mosaicism and Splicing Variants.
JOURNAL OF MOLECULAR DIAGNOSTICS . 25(9): 692-701. Number of citations: 3
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Rovira-Moreno E, Abulí A, Muñoz-Cabello P, Codina-Solà M, Baillès E, de Lemus M, Darras BT and Tizzano E.
The diagnosis communication process in spinal muscular atrophy: A cross-cutting view of the new challenges facing the therapeutic era.
genetics in medicine open . 1(1): 100825-100825.
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Carrasco E, López-Fernández A, Codina-Sola M, Valenzuela I, Cueto-González AM, Villacampa G, Navarro V, Torres-Esquius S, Palau D, Cruellas M, Torres M, Perez-Dueñas B, Abulí A, Diez O, Sábado-Álvarez C, García-Arumí E, Tizzano E, Moreno L and Balmaña J.
Clinical and psychological implications of secondary and incidental findings in cancer susceptibility genes after exome sequencing in patients with rare disorders.
JOURNAL OF MEDICAL GENETICS . 60(7): 685-691. Number of citations: 7
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Abulí A, Costa-Roger M, Codina-Solà M, Valenzuela I, Leno-Colorado J, Rovira-Moreno E, Cueto-González A, Fernández-Álvarez P, García-Arumí E, Cuscó I and Tizzano E.
Experience using singleton exome sequencing of probands as an approach to preconception carrier screening in consanguineous couples.
JOURNAL OF MEDICAL GENETICS . 60(6): 540-546. Number of citations: 3
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Nadal M, Anton R, Dorca-Arévalo J, Estébanez-Perpiñá E, Tizzano E and Fuentes-Prior P.
Structure and function analysis of Sam68 and hnRNP A1 synergy in the exclusion of exon 7 from SMN2 transcripts.
Protein Science . 32(4): . Number of citations: 4
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Sánchez-Tejerina D, Alvarez PF, Laínez E, Martinez VG, Santa-Cruz DI, Verdaguer L, Gratacòs M, Seoane JL, Raguer N, Hernández-Vara J, Llauradó A, Sotoca J, Salvado M, Arumi EG, Tizzano E and Juntas R.
RFC1 repeat expansions and cerebellar ataxia, neuropathy and vestibular areflexia syndrome: Experience and perspectives from a neuromuscular disorders unit.
JOURNAL OF THE NEUROLOGICAL SCIENCES . 446: 120565-120565. Number of citations: 6