Publicaciones
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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: 3
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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: 8
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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. Nº de citas: 1
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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: 5
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Glennie L, Solà MC, Xunclà M, Español GA, Garcia-Arumí E, Tizzano E, Wood NT, Macartney TJ, Lasa-Aranzasti A and Sapkota GP.
A novel FAM83G variant from palmoplantar keratoderma patient disrupts WNT signalling via loss of FAM83G-CK1a interaction.
OPEN BIOLOGY . 14(7): 240075-240075. Nº de citas: 1
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Antolin M, Tarrasó G, Sánchez MÁ, Plaja A, Martínez-Cruz D, Xunclà M, Castells N, Carreras E, Tizzano E and García-Arumí E.
Performance of Massive Parallel Sequencing-Based Cell-Free DNA Testing in Compromised Pregnancies.
Journal of Clinical Medicine . 13(14): . Nº de citas: 2
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Kirschner J, Bernert G, Butoianu N, De Waele L, Fattal-Valevski A, Haberlova J, Moreno T, Klein A, Kostera-Pruszczyk A, Mercuri E, Quijano-Roy S, Sejersen T, Tizzano E, van der Pol WL, Wallace S, Zafeiriou D, Ziegler A, Muntoni F and Servais L.
2024 update: European consensus statement on gene therapy for spinal muscular atrophy.
EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY . 51: 73-78. Nº de citas: 14
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Gartner S, Roca-Ferrer J, Fernandez-Alvarez P, Lima I, Rovira-Amigo S, García-Arumi E, Tizzano E and Picado C.
Elevated Prostaglandin E(2) Synthesis Is Associated with Clinical and Radiological Disease Severity in Cystic Fibrosis.
Journal of Clinical Medicine . 13(7): . Nº de citas: 1
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Cattinari MG, de Lemus M and Tizzano E.
RegistrAME: the Spanish self-reported patient registry of spinal muscular atrophy.
ORPHANET JOURNAL OF RARE DISEASES . 19(1): 76-76. Nº de citas: 7