Publications
-
Also-Rallo E, Alías L, Martínez-Hernández R, Caselles L, Barceló MJ, Baiget M, Bernal S and Tizzano E.
Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability.
EUROPEAN JOURNAL OF HUMAN GENETICS . 19(10): 1059-1065. Number of citations: 26
-
Alías L, Bernal S, Barceló MJ, Also-Rallo E, Martínez-Hernández R, Rodríguez-Alvarez FJ, Hernández-Chico C, Baiget M and Tizzano E.
Accuracy of marker analysis, quantitative real-time polymerase chain reaction, and multiple ligation-dependent probe amplification to determine SMN2 copy number in patients with spinal muscular atrophy.
GENETIC TESTING AND MOLECULAR BIOMARKERS . 15(9): 587-594. Number of citations: 28
-
Bernal S, Also-Rallo E, Martínez-Hernández R, Alías L, Rodríguez-Alvarez FJ, Millán JM, Hernández-Chico C, Baiget M and Tizzano E.
Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings.
NEUROMUSCULAR DISORDERS . 21(6): 413-419. Number of citations: 55
-
Parra J, Martínez-Hernández R, Also-Rallo E, Alias L, Barceló MJ, Amenedo M, Medina C, Senosiain R, Calaf J, Baiget M, Bernal S and Tizzano E.
Ultrasound evaluation of fetal movements in pregnancies at risk for severe spinal muscular atrophy.
NEUROMUSCULAR DISORDERS . 21(2): 97-101. Number of citations: 17
-
Martín-Salces M, Venceslá A, Alvárez-Román MT, Rivas I, Fernandez I, Butta N, Baena M, Fuentes-Prior P, Tizzano E and Jiménez-Yuste V.
Clinical and genetic findings in five female patients with haemophilia A: Identification of a novel missense mutation, p.Phe2127Ser.
THROMBOSIS AND HAEMOSTASIS . 104(4): 718-723. Number of citations: 17
-
Paré L, Paez D, Salazar J, Del Rio E, Tizzano E, Marcuello E and Baiget M.
Absence of large intragenic rearrangements in the DPYD gene in a large cohort of colorectal cancer patients treated with 5-FU-based chemotherapy.
BRITISH JOURNAL OF CLINICAL PHARMACOLOGY . 70(2): 268-272. Number of citations: 13
-
Febrer A, Rodriguez N, Alias L and Tizzano E.
Measurement of muscle strength with a handheld dynamometer in patients with chronic spinal muscular atrophy.
JOURNAL OF REHABILITATION MEDICINE . 42(3): 228-231. Number of citations: 29
-
Hasanzad M, Azad M, Kahrizi K, Saffar BS, Nafisi S, Keyhanidoust Z, Azimian M, Refah AA, Also E, Urtizberea JA, Tizzano E and Najmabadi H.
Carrier frequency of SMA by quantitative analysis of the SMN1 deletion in the Iranian population.
EUROPEAN JOURNAL OF NEUROLOGY . 17(1): 160-162. Number of citations: 27
-
Belvís R, Tizzano E, Martí-Fàbregas J, Leta RG, Baena M, Carreras F, Pons-Lladó G, Baiget M and Martí-Vilalta JL.
Mutations in the NKX2-5 gene in patients with stroke and patent foramen ovale.
Clinical Neurology and Neurosurgery . 111(7): 574-578. Number of citations: 17
-
Martínez-Hernández R, Soler-Botija C, Also E, Alias L, Caselles L, Gich I, Bernal S and Tizzano E.
The developmental pattern of myotubes in spinal muscular atrophy indicates prenatal delay of muscle maturation.
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY . 68(5): 474-481. Number of citations: 93