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BAYES M
GOLDARACENA B
MARTINEZMIR A
IRAGUIMADOZ MI
SOLANS T
CHIVELET P
BUSSAGLIA E
RAMOSARROYO MA
BAIGET M
VILAGELIU L
BALCELLS S
GONZALEZDUARTE R
GRINBERG D
Citation: M. Bayes et al., A NEW AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA LOCUS MAPS ON CHROMOSOME 2Q31-Q33, Journal of Medical Genetics, 35(2), 1998, pp. 141-145
Authors:
BUSSAGLIA E
TIZZANO EF
ILLA I
CERVERA C
BAIGET M
Citation: E. Bussaglia et al., CRAMPS AND MINIMAL EMG ABNORMALITIES AS PRECLINICAL MANIFESTATIONS OFSPINAL MUSCULAR-ATROPHY PATIENTS WITH HOMOZYGOUS DELETIONS OF THE SMNGENE, Neurology, 48(5), 1997, pp. 1443-1445
Authors:
CAPON F
LEVATO C
BUSSAGLIA E
LOCICERO S
TIZZANO EF
BAIGET M
SILANI V
PIZZUTI A
NOVELLI G
DALLAPICCOLA B
Citation: F. Capon et al., DELETION ANALYSIS OF THE SIMPLE TANDEM REPEAT LOCI PHYSICALLY LINKED TO THE SPINAL MUSCULAR-ATROPHY LOCUS, Human mutation, 7(3), 1996, pp. 198-201
Authors:
BUSSAGLIA E
CLERMONT O
TIZZANO E
LEFEBVRE S
BURGLEN L
CRUAUD C
URTIZBEREA JA
COLOMER J
MUNNICH A
BAIGET M
MELKI J
Citation: E. Bussaglia et al., A FRAME-SHIFT DELETION IN THE SURVIVAL MOTOR-NEURON GENE IN SPANISH SPINAL MUSCULAR-ATROPHY PATIENTS, Nature genetics, 11(3), 1995, pp. 335-337
Authors:
BUSSAGLIA E
CLERMONT O
TIZZANO EF
LEFEBVRE S
BURGLEN L
CRUAUD C
COLOMER J
MUNNICH A
BAIGET M
MELKI J
Citation: E. Bussaglia et al., A 4 BP DELETION IN EXON-3 OF THE SURVIVAL NEURON GENE RESULTING IN A PREMATURE STOP CODON IS A RECURRENT MUTATION IN SPANISH SPINAL MUSCULAR-ATROPHY FAMILIES, American journal of human genetics, 57(4), 1995, pp. 1204-1204