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Results: 1-8 |
Results: 8
EVIDENCE FOR ANTICIPATION IN AUTOSOMAL-DOMINANT LIMB-GIRDLE MUSCULAR-DYSTROPHY
Authors: SPEER MC GILCHRIST JM STAJICH JM GASKELL PC WESTBROOK CA HORRIGAN SK BARTOLONI L YAMAOKA LH SCOTT WK PERICAKVANCE MA
Citation: Mc. Speer et al., EVIDENCE FOR ANTICIPATION IN AUTOSOMAL-DOMINANT LIMB-GIRDLE MUSCULAR-DYSTROPHY, Journal of Medical Genetics, 35(4), 1998, pp. 305-308
EXCLUSION OF IDENTIFIED LGMD1 LOCI FROM 4 DOMINANT LIMB-GIRDLE MUSCULAR-DYSTROPHY FAMILIES
Authors: SPEER MC VANCE JM LENNONGRAHAM F STAJICH JM VILES KD GILCHRIST JM NIGRO V MCMICHAEL R CHUTKOW JG BARTOLONI L HORRIGAN SK WESTBROOK CA PERICAKVANCE MA
Citation: Mc. Speer et al., EXCLUSION OF IDENTIFIED LGMD1 LOCI FROM 4 DOMINANT LIMB-GIRDLE MUSCULAR-DYSTROPHY FAMILIES, Human heredity, 48(4), 1998, pp. 179-184
LIMB-GIRDLE MUSCULAR-DYSTROPHY 1A - REFINEMENT OF THE 5Q31 LOCALIZATION AND A PHYSICAL AND GENETIC-MAP OF THE INTERVAL
Authors: BARTOLONI L HORRIGAN SK ZHANG Y VILES K GILCHRIST JM VANCE JM YAMAOKA LH PERICAKVANCE MA WESTBROOK CA SPEER MC
Citation: L. Bartoloni et al., LIMB-GIRDLE MUSCULAR-DYSTROPHY 1A - REFINEMENT OF THE 5Q31 LOCALIZATION AND A PHYSICAL AND GENETIC-MAP OF THE INTERVAL, American journal of human genetics, 61(4), 1997, pp. 1552-1552
A POINT MUTATION IN THE 5'-SPLICE-SITE OF THE DYSTROPHIN GENE FIRST INTRON RESPONSIBLE FOR X-LINKED DILATED CARDIOMYOPATHY
Authors: MILASIN J MUNTONI F SEVERINI GM BARTOLONI L VATTA M KRAJINOVIC M MATEDDU A ANGELINI C CAMERINI F FALASCHI A MESTRONI L GIACCA M PINAMONTI B SINAGRA G DILENARDA A SILVESTRI F BUSSANI R DAVANZO M
Citation: J. Milasin et al., A POINT MUTATION IN THE 5'-SPLICE-SITE OF THE DYSTROPHIN GENE FIRST INTRON RESPONSIBLE FOR X-LINKED DILATED CARDIOMYOPATHY, Human molecular genetics, 5(1), 1996, pp. 73-79
MOLECULAR CHARACTERIZATION OF MYOPHOSPHORYLASE DEFICIENCY IN A GROUP OF PATIENTS FROM NORTHERN ITALY
Authors: MARTINUZZI A TSUJINO S VERGANI L SCHIEVANO G CADALDINI M BARTOLONI L FANIN M SICILIANO G SHANSKE S DIMAURO S ANGELINI C
Citation: A. Martinuzzi et al., MOLECULAR CHARACTERIZATION OF MYOPHOSPHORYLASE DEFICIENCY IN A GROUP OF PATIENTS FROM NORTHERN ITALY, Journal of the neurological sciences, 137(1), 1996, pp. 14-19
POINT MUTATIONS IN MUSCLE PROMOTER REGION OF DYSTROPHIN GENE ASSOCIATED WITH CARDIOPATHY AND MYOGLOBINURIA
Authors: BARTOLONI L FANIN M FREDA MP DANIELI GA ANGELINI C
Citation: L. Bartoloni et al., POINT MUTATIONS IN MUSCLE PROMOTER REGION OF DYSTROPHIN GENE ASSOCIATED WITH CARDIOPATHY AND MYOGLOBINURIA, Neurology, 45(4), 1995, pp. 181-182
MOLECULAR CHARACTERIZATION OF MYOPHOSPHORYLASE DEFICIENCY IN ITALIAN PATIENTS
Authors: MARTINUZZI A TSUJINO S BARTOLONI L CARROZZO R SHANSKE S DIMAURO S ANGELINI C
Citation: A. Martinuzzi et al., MOLECULAR CHARACTERIZATION OF MYOPHOSPHORYLASE DEFICIENCY IN ITALIAN PATIENTS, Neurology, 44(4), 1994, pp. 10000284-10000285
EXPRESSION OF MUSCLE-TYPE PHOSPHORYLASE IN INNERVATED AND ANEURAL CULTURED MUSCLE OF PATIENTS WITH MYOPHOSPHORYLASE DEFICIENCY
Authors: MARTINUZZI A VERGANI L CARROZZO R FANIN M BARTOLONI L ANGELINI C ASKANAS V ENGEL WK
Citation: A. Martinuzzi et al., EXPRESSION OF MUSCLE-TYPE PHOSPHORYLASE IN INNERVATED AND ANEURAL CULTURED MUSCLE OF PATIENTS WITH MYOPHOSPHORYLASE DEFICIENCY, The Journal of clinical investigation, 92(4), 1993, pp. 1774-1780
Risultati: 1-8 |