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Results: 1-9 |
Results: 9
HOMOZYGOUS ALPHA-SARCOGLYCAN MUTATION IN 2 SIBLINGS - ONE ASYMPTOMATIC AND ONE STEROID-RESPONSIVE MILD LIMB-GIRDLE MUSCULAR-DYSTROPHY PATIENT
Authors: ANGELINI C FANIN M MENEGAZZO E FREDA MP DUGGAN DJ HOFFMAN EP
Citation: C. Angelini et al., HOMOZYGOUS ALPHA-SARCOGLYCAN MUTATION IN 2 SIBLINGS - ONE ASYMPTOMATIC AND ONE STEROID-RESPONSIVE MILD LIMB-GIRDLE MUSCULAR-DYSTROPHY PATIENT, Muscle & nerve, 21(6), 1998, pp. 769-775
GENETIC EPIDEMIOLOGY OF MUSCULAR-DYSTROPHIES RESULTING FROM SARCOGLYCAN GENE-MUTATIONS
Authors: FANIN M DUGGAN DJ MOSTACCIUOLO ML MARTINELLO F FREDA MP SORARU G TREVISAN CP HOFFMAN EP
Citation: M. Fanin et al., GENETIC EPIDEMIOLOGY OF MUSCULAR-DYSTROPHIES RESULTING FROM SARCOGLYCAN GENE-MUTATIONS, Journal of Medical Genetics, 34(12), 1997, pp. 973-977
DUCHENNE PHENOTYPE WITH IN-FRAME DELETION REMOVING MAJOR PORTION OF DYSTROPHIN ROD - THRESHOLD EFFECT FOR DELETION SIZE
Authors: FANIN M FREDA MP VITIELLO L DANIELI GA PEGORARO E ANGELINI C
Citation: M. Fanin et al., DUCHENNE PHENOTYPE WITH IN-FRAME DELETION REMOVING MAJOR PORTION OF DYSTROPHIN ROD - THRESHOLD EFFECT FOR DELETION SIZE, Muscle & nerve, 19(9), 1996, pp. 1154-1160
CARNITINE DEFICIENCY AS A CAUSE OF SUBACUTE MYOPATHY IN THE ELDERLY
Authors: MARTINUZZI A VERGANI L FREDA MP FANIN M SCHIEVANO G ANGELINI C
Citation: A. Martinuzzi et al., CARNITINE DEFICIENCY AS A CAUSE OF SUBACUTE MYOPATHY IN THE ELDERLY, Neurology, 46(2), 1996, pp. 5013-5013
PROGNOSTIC FACTORS IN MILD DYSTROPHINOPATHIES
Authors: ANGELINI C FANIN M FREDA MP MARTINELLO F MIORIN M MELACINI P SICILIANO G PEGORARO E ROSA M DANIELI GA
Citation: C. Angelini et al., PROGNOSTIC FACTORS IN MILD DYSTROPHINOPATHIES, Journal of the neurological sciences, 142(1-2), 1996, pp. 70-78
MYOCARDIAL INVOLVEMENT IS VERY FREQUENT AMONG PATIENTS AFFECTED WITH SUBCLINICAL BECKERS MUSCULAR-DYSTROPHY
Authors: MELACINI P FANIN M DANIELI GA VILLANOVA C MARTINELLO F MIORIN M FREDA MP MIORELLI M MOSTACCIUOLO ML FASOLI G ANGELINI C DALLAVOLTA S
Citation: P. Melacini et al., MYOCARDIAL INVOLVEMENT IS VERY FREQUENT AMONG PATIENTS AFFECTED WITH SUBCLINICAL BECKERS MUSCULAR-DYSTROPHY, Circulation, 94(12), 1996, pp. 3168-3175
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
CLINICAL-MOLECULAR CORRELATION IN 104 MILD X-LINKED MUSCULAR-DYSTROPHY PATIENTS - CHARACTERIZATION OF SUBCLINICAL PHENOTYPES
Authors: ANGELINI C FANIN M PEGORARO E FREDA MP CADALDINI M MARTINELLO F
Citation: C. Angelini et al., CLINICAL-MOLECULAR CORRELATION IN 104 MILD X-LINKED MUSCULAR-DYSTROPHY PATIENTS - CHARACTERIZATION OF SUBCLINICAL PHENOTYPES, Neuromuscular disorders, 4(4), 1994, pp. 349-358
PREVALENT CARDIAC INVOLVEMENT IN DYSTROPHIN BECKER TYPE MUTATION
Authors: SICILIANO G FANIN M ANGELINI C POLLINA LE MIORIN M SAAD FA FREDA MP MURATORIO A
Citation: G. Siciliano et al., PREVALENT CARDIAC INVOLVEMENT IN DYSTROPHIN BECKER TYPE MUTATION, Neuromuscular disorders, 4(4), 1994, pp. 381-386
Risultati: 1-9 |