Publications
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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
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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
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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
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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
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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
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Alías L, Bernal S, Fuentes-Prior P, Barceló MJ, Also E, Martínez-Hernández R, Rodríguez-Alvarez FJ, Martín Y, Aller E, Grau E, Peciña A, Antiñolo G, Galán E, Rosa AL, Fernández-Burriel M, Borrego S, Millán JM, Hernández-Chico C, Baiget M and Tizzano E.
Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.
HUMAN GENETICS . 125(1): 29-39. Number of citations: 128
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Tizzano E.
Spinal muscular atrophy during human development: where are the early pathogenic findings?
Advances in Experimental Medicine and Biology . 652: 225-235. Number of citations: 3
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Venceslá A, Fuentes-Prior P, Baena M, Quintana M, Baiget M and Tizzano E.
Severe haemophilia A in a female resulting from an inherited gross deletion and a de novo codon deletion in the F8 gene.
HAEMOPHILIA . 14(5): 1094-1098. Number of citations: 10
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Venceslá A, Baena M, Fares Taie L, Cornet M, Baiget M and Tizzano E.
Application of intron 9 and intron 25 dinucleotide repeats of the factor VIII gene for carrier diagnosis in haemophilia A.
HAEMOPHILIA . 14(3): 489-493. Number of citations: 9
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Bernal S, Solans T, Gamundi MJ, Hernan I, de Jorge L, Carballo M, Navarro R, Tizzano E, Ayuso C and Baiget M.
Analysis of the involvement of the NR2E3 gene in autosomal recessive retinal dystrophies.
CLINICAL GENETICS . 73(4): 360-366. Number of citations: 40