Publicaciones
-
Tizzano E, Cuscó I, Barceló MJ, Parra J and Baiget M.
Should gamete donors be tested for spinal muscular atrophy?
FERTILITY AND STERILITY . 77(2): 409-411. Nº de citas: 12
-
Cuscó I, Barceló MJ, del Rio E, Martín Y, Hernández-Chico C, Bussaglia E, Baiget M and Tizzano E.
Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases.
HUMAN GENETICS . 108(3): 222-229. Nº de citas: 41
-
Tizzano E and Baiget M.
Bases moleculares de la atrofia muscular espinal: el gen SMN.
NEUROLOGIA . 15(9): 393-400.
-
Montejo JM, Magallón M, Tizzano E and Solera J.
Identification of twenty-one new mutations in the factor IX gene by SSCP analysis.
HUMAN MUTATION . 13(2): 160-165. Nº de citas: 25
[doi:10.1002/(SICI)1098-1004(1999)13:2<160::AID-HUMU9>3.0.CO;2-C]
-
Tizzano E, Cabot C and Baiget M.
Cell-specific survival motor neuron gene expression during human development of the central nervous system: implications for the pathogenesis of spinal muscular atrophy.
AMERICAN JOURNAL OF PATHOLOGY . 153(2): 355-361. Nº de citas: 42
-
Loureiro González B, Justa Roldán ML, Rite García S, Marco Tello A, Calvo González M, Baiget Bastus M, Tizzano E and López Pisón J.
Importancia del diagnóstico genético en un caso atípico de atrofia muscular espinal tipo I.
Anales espanoles de pediatria . 48(6): 644-646.
-
Bussaglia E, Tizzano E, Illa I, Cervera C and Baiget M.
Cramps and minimal EMG abnormalities as preclinical manifestations of spinal muscular atrophy patients with homozygous deletions of the SMN gene.
Neurology . 48(5): 1443-1445. Nº de citas: 10
-
Bussaglia E, Tizzano E and Baiget M.
Contribución de la genética molecular al estudio de la atrofia muscular espinal.
NEUROLOGIA . 11 Suppl 5: 14-19.
-
Capon F, Levato C, Bussaglia E, Lo Cicero S, Tizzano E, Baiget M, Silani V, Pizzuti A, Novelli G and Dallapiccola B.
Deletion analysis of the simple tandem repeat loci physically linked to the spinal muscular atrophy locus.
HUMAN MUTATION . 7(3): 198-201. Nº de citas: 6
[doi:10.1002/(SICI)1098-1004(1996)7:3<198::AID-HUMU3>3.0.CO;2-7]
-
Bussaglia E, Clermont O, Tizzano E, Lefebvre S, Bürglen L, Cruaud C, Urtizberea JA, Colomer J, Munnich A and et al..
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients.
NATURE GENETICS . 11(3): 335-337. Nº de citas: 220