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Results: 26-41/41
Authors:
Korade-Mirnics, Z
Tarleton, J
Servidei, S
Casey, RR
Gennarelli, M
Pegoraro, E
Angelini, C
Hoffman, EP
Citation: Z. Korade-mirnics et al., Myotonic dystrophy: tissue-specific effect of somatic CTG expansions on allele-specific DMAHP/SIX5 expression, HUM MOL GEN, 8(6), 1999, pp. 1017-1023
Authors:
Pegoraro, E
Fanin, M
Angelini, C
Hoffman, EP
Citation: E. Pegoraro et al., Prenatal diagnosis in a family affected with beta-sarcoglycan muscular dystrophy, NEUROMUSC D, 9(5), 1999, pp. 323-325
Authors:
Tseng, BS
Cavin, ST
Hoffman, EP
Iannaccone, ST
Mancias, P
Booth, FW
Butler, LJ
Citation: Bs. Tseng et al., Human bHLH transcription factor gene myogenin (MYOG): Genomic sequence andnegative mutation analysis in patients with severe congenital myopathies, GENOMICS, 57(3), 1999, pp. 419-423
Authors:
Stephan, DA
Hoffman, EP
Citation: Da. Stephan et Ep. Hoffman, Physical mapping of the rippling muscle disease locus, GENOMICS, 55(3), 1999, pp. 268-274
Authors:
Scacheri, PC
Garcia, C
Hebert, R
Hoffman, EP
Citation: Pc. Scacheri et al., Unique PABP2 mutations in "Cajuns" suggest multiple founders of oculopharyngeal muscular dystrophy in populations with French ancestry, AM J MED G, 86(5), 1999, pp. 477-481
Authors:
Melacini, P
Fanin, M
Duggan, DJ
Freda, MP
Berardinelli, A
Danieli, GA
Barchitta, A
Hoffman, EP
Dalla Volta, S
Angelini, C
Citation: P. Melacini et al., Heart involvement in muscular dystrophies due to sarcoglycan gene mutations, MUSCLE NERV, 22(4), 1999, pp. 473-479
Authors:
Murillo, FM
Kobayashi, H
Pegoraro, E
Galluzzi, G
Creel, G
Mariani, C
Farina, E
Ricci, E
Alfonso, G
Pauli, RM
Hoffman, EP
Citation: Fm. Murillo et al., Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15, NEUROLOGY, 53(1), 1999, pp. 50-56
Authors:
Chou, FL
Angelini, C
Daentl, D
Garcia, C
Greco, C
Hausmanowa-Petrusewicz, I
Fidzianska, A
Wessel, H
Hoffman, EP
Citation: Fl. Chou et al., Calpain III mutation analysis of a heterogeneous limb-girdle muscular dystrophy population, NEUROLOGY, 52(5), 1999, pp. 1015-1020
Authors:
Angelini, C
Fanin, M
Freda, MP
Duggan, DJ
Siciliano, G
Hoffman, EP
Citation: C. Angelini et al., The clinical spectrum of sarcoglycanopathies, NEUROLOGY, 52(1), 1999, pp. 176-179
Authors:
Hoffman, EP
Citation: Ep. Hoffman, Counting muscular dystrophies in the post-molecular census, J NEUR SCI, 164(1), 1999, pp. 3-6
Authors:
Hoffman, EP
Citation: Ep. Hoffman, Muscular dystrophy - Identification and use of genes for diagnostics and therapeutics, ARCH PATH L, 123(11), 1999, pp. 1050-1052
Highly skewed X-chromosome inactivation is associated with idiopathic recurrent spontaneous abortion
Authors:
Lanasa, MC
Hogge, WA
Kubik, C
Blancato, J
Hoffman, EP
Citation: Mc. Lanasa et al., Highly skewed X-chromosome inactivation is associated with idiopathic recurrent spontaneous abortion, AM J HU GEN, 65(1), 1999, pp. 252-254
Authors:
Lanasa, MC
Hogge, WA
Hoffman, EP
Citation: Mc. Lanasa et al., The X chromosome and recurrent spontaneous abortion: The significance of transmanifesting carriers, AM J HU GEN, 64(4), 1999, pp. 934-938
Authors:
Doriguzzi, C
Palmucci, L
Mongini, T
Chiado-Piat, L
Saggiorato, C
Ugo, I
Hoffman, EP
Citation: C. Doriguzzi et al., Variable histological expression of dystrophinopathy in two females, ACT NEUROP, 97(6), 1999, pp. 657-660
Authors:
Melacini, P
Fanin, M
Angelini, A
Pegoraro, E
Livi, U
Danieli, GA
Hoffman, EP
Thiene, G
Dalla Volta, S
Angelini, C
Citation: P. Melacini et al., Cardiac transplantation in a Duchenne muscular dystrophy carrier, NEUROMUSC D, 8(8), 1998, pp. 585-590
Authors:
Goldberg, LR
Hausmanowa-Petrusewicz, I
Fidzianska, A
Duggan, DJ
Steinberg, LS
Hoffman, EP
Citation: Lr. Goldberg et al., A dystrophin missense mutation showing persistence of dystrophin and dystrophin-associated proteins yet a severe phenotype, ANN NEUROL, 44(6), 1998, pp. 971-976