Publicaciones
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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. Nº de citas: 14
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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. Nº de citas: 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. Nº de citas: 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. Nº de citas: 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): . Nº de citas: 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. Nº de citas: 6
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Codina-Solà M, Trujillano L, Abulí A, Rovira-Moreno E, Muñoz-Cabello P, Campos B, Fernández-Álvarez P, Palau D, Carrasco E, Valenzuela I, Cueto-González AM, Lasa-Aranzasti A, Limeres J, Leno-Colorado J, Costa-Roger M, Moles-Fernández A, Balmaña J, Díez O, Cuscó I, Garcia-Arumí E and Tizzano E.
An spanish study of secondary findings in families affected with mendelian disorders: choices, prevalence and family history.
EUROPEAN JOURNAL OF HUMAN GENETICS . 31(2): 223-230. Nº de citas: 2
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Loberti L, Bruno LP, Granata S, Doddato G, Resciniti S, Fava F, Carullo M, Rahikkala E, Jouret G, Menke LA, Lederer D, Vrielynck P, Ryba L, Brunetti-Pierri N, Lasa-Aranzasti A, Cueto-González AM, Trujillano L, Valenzuela I, Tizzano E, Spinelli AM, Bruno I, Currò A, Stanzial F, Benedicenti F, Lopergolo D, Santorelli FM, Aristidou C, Tanteles GA, Maystadt I, Tkemaladze T, Reimand T, Lokke H, Õunap K, Haanpää MK, Holubová A, Zoubková V, Schwarz M, Žordania R, Muru K, Roht L, Tihveräinen A, Teek R, Thomson U, Atallah I, Superti-Furga A, Buoni S, Canitano R, Scandurra V, Rossetti A, Grosso S, Battini R, Baldassarri M, Mencarelli MA, Rizzo CL, Bruttini M, Mari F, Ariani F, Renieri A and Pinto AM.
Natural history of KBG syndrome in a large European cohort.
HUMAN MOLECULAR GENETICS . 31(24): 4131-4142. Nº de citas: 19
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Milligan JN, Blasco-Perez L, Costa-Roger M, Codina-Solà M and Tizzano E.
Recommendations for Interpreting and Reporting Silent Carrier and Disease-Modifying Variants in SMA Testing Workflows.
GENES . 13(9): . Nº de citas: 12