Publicaciones
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Zwartkruis MM, Elferink MG, Gommers D, Signoria I, Blasco-Pérez L, Costa-Roger M, van der Sel J, Renkens IJ, Green JW, Kortooms JV, Vermeulen C, Straver R, van Deutekom HWM, Veldink JH, Asselman F, Tizzano E, Wadman RI, van der Pol WL, van Haaften GW and Groen EJN.
Long-read sequencing identifies copy-specific markers of SMN gene conversion in spinal muscular atrophy.
GENOME MEDICINE . 17(1): 26-26.
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Barbero AIS, Valenzuela I, Fernández-Alvarez P, Vazquez É, Cueto-Gonzalez AM, Lasa-Aranzasti A, Trujillano L, Masotto B, Arumí EG and Tizzano E.
New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish Patients.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A . 197(3): .
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Valenzuela I, Codina-Solà M, Vazquez E, Cueto-González A, Leno-Colorado J, Lasa-Aranzasti A, Trujillano L, Masotto B, Masas M, Escobar M, García-Arumí E and Tizzano E.
Deep phenotyping of 11 individuals with pathogenic variants in RNU4-2 reveals a clinically recognizable syndrome.
GENETICS IN MEDICINE . 26(12): 101288-101288. Nº de citas: 1
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Brown SM, Ajjarapu AS, Ramachandra D, Blasco-Pérez L, Costa-Roger M, Tizzano E, Sumner CJ and Mathews KD.
Onasemnogene-abeparvovec administration to premature infants with spinal muscular atrophy.
Annals of Clinical and Translational Neurology . 11(11): 3042-3046.
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Tizzano E, Quijano-Roy S, Servais L, Parsons JA, Aharoni S, Lakhotia A and Finkel RS.
Outcomes for patients in the RESTORE registry with spinal muscular atrophy and four or more SMN2 gene copies treated with onasemnogene abeparvovec.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 53: 18-24. Nº de citas: 1
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Haghshenas S, Putoux A, Reilly J, Levy MA, Relator R, Ghosh S, Kerkhof J, McConkey H, Edery P, Lesca G, Besson A, Coubes C, Willems M, Ruiz-Pallares N, Barat-Houari M, Tizzano E, Valenzuela I, Sabbagh Q, Clayton-Smith J, Jackson A, O'Sullivan J, Bromley R, Banka S, Genevieve D and Sadikovic B.
Discovery of DNA methylation signature in the peripheral blood of individuals with history of antenatal exposure to valproic acid.
GENETICS IN MEDICINE . 26(10): 101226-101226. Nº de citas: 1
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Vazquez N, Lee C, Valenzuela I, Phan TP, Derderian C, Chávez M, Mooney NA, Demeter J, Aziz-Zanjani MO, Cusco I, Codina M, Martinez-Gil N, Valverde D, Solarat C, Buel AL, Thauvin-Robinet C, Steichen E, Filges I, Joset P, De Geyter J, Vaidyanathan K, Gardner T, Toriyama M, Marcotte EM, Roberson EC, Jackson PK, Reiter JF, Tizzano E and Wallingford JB.
The human ciliopathy protein RSG1 links the CPLANE complex to transition zone architecture.
Biorxiv . : .
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Lasa-Aranzasti, A, Larasati, YA, Cardoso, JD, Solis, GP, Koval, A, Cazurro-Gutiérrez, A, Ortigoza-Escobar JD, Miranda, MC, De la Casa-Fages, B, Moreno-Galdó, A, Tizzano E, Gómez-Andrés, D, Verdura, E, Katanaev, VL and Pérez-Dueñas, B.
Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.
MOVEMENT DISORDERS . 39(9): 1578-1591. Nº de citas: 3
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Totten V, Teixido-Tura G, Lopez-Grondona F, Fernandez-Alvarez P, Lasa-Aranzasti A, Muñoz-Cabello P, Kosaki R, Tizzano E, Dewals W, Borràs E, Cañas EG, Almoguera B, Loeys B and Valenzuena I.
Arterial aneurysm and dissection: toward the evolving phenotype of Tatton-Brown-Rahman syndrome.
JOURNAL OF MEDICAL GENETICS . 61(9): 870-877.
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Costa-Roger M, Blasco-Pérez L, Gerin L, Codina-Solà M, Leno-Colorado J, Gómez-García De la Banda M, Garcia-Uzquiano R, Saugier-Veber P, Drunat S, Quijano-Roy S and Tizzano E.
Complex SMN Hybrids Detected in a Cohort of 31 Patients With Spinal Muscular Atrophy.
NEUROLOGY-GENETICS . 10(4): . Nº de citas: 2