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Results: 1-7 |
Results: 7
GENOTYPE-PHENOTYPE CORRELATION IN ITALIAN PATIENTS AFFECTED BY ACID MALTASE DEFICIENCY (GLYCOGEN-STORAGE-DISEASE TYPE-II GSD-II)
Authors: SERVIDEI S SPINAZZOLA A BERTINI E DEROSA G SILVESTRI G ODOARDI F RICCI E TONALI P
Citation: S. Servidei et al., GENOTYPE-PHENOTYPE CORRELATION IN ITALIAN PATIENTS AFFECTED BY ACID MALTASE DEFICIENCY (GLYCOGEN-STORAGE-DISEASE TYPE-II GSD-II), Neurology, 48(3), 1997, pp. 5119-5119
A T8993C MUTATION IN THE MITOCHONDRIAL ATPASE-6 GENE WITH RAPID SEGREGATION RESULTING IN A HETEROGENEOUS PHENOTYPE IN A FAMILY
Authors: BERTINI E PIANTADOSI C SILVESTRI G SPINAZZOLA A RANA M DEROSA G TONALI P SERVIDEI S
Citation: E. Bertini et al., A T8993C MUTATION IN THE MITOCHONDRIAL ATPASE-6 GENE WITH RAPID SEGREGATION RESULTING IN A HETEROGENEOUS PHENOTYPE IN A FAMILY, Neurology, 46(2), 1996, pp. 8002-8002
REPLACEMENT THERAPY IS EFFECTIVE IN FAMILIAL MITOCHONDRIAL ENCEPHALOMYOPATHY WITH MUSCLE COENZYME Q(10) DEFICIENCY
Authors: SERVIDEI S SPINAZZOLA A CROCIANI P RICCI E SILVESTRI G KELLER K SIMONE P DIMAURO S TONALI P GIOVANNI S
Citation: S. Servidei et al., REPLACEMENT THERAPY IS EFFECTIVE IN FAMILIAL MITOCHONDRIAL ENCEPHALOMYOPATHY WITH MUSCLE COENZYME Q(10) DEFICIENCY, Neurology, 46(2), 1996, pp. 60002-60002
CENTRAL MOTOR PATHWAY INVOLVEMENT IN XP21-LINKED MUSCULAR-DYSTROPHIES
Authors: DILAZZARO V SERVIDEI S RESTUCCIA D NARDONE R PROFICE P OLIVIERO A MANGIOLA F SPINAZZOLA A RICCI E TONALI P
Citation: V. Dilazzaro et al., CENTRAL MOTOR PATHWAY INVOLVEMENT IN XP21-LINKED MUSCULAR-DYSTROPHIES, Neurology, 46(2), 1996, pp. 65006-65006
A NOVEL MITOCHONDRIAL-DNA POINT MUTATION IN THE TRNA(ILE) GENE IS ASSOCIATED WITH PROGRESSIVE EXTERNAL OPHTALMOPLEGIA
Authors: SILVESTRI G SERVIDEI S RANA M RICCI E SPINAZZOLA A PARIS E TONALI P
Citation: G. Silvestri et al., A NOVEL MITOCHONDRIAL-DNA POINT MUTATION IN THE TRNA(ILE) GENE IS ASSOCIATED WITH PROGRESSIVE EXTERNAL OPHTALMOPLEGIA, Biochemical and biophysical research communications, 220(3), 1996, pp. 623-627
RECURRENT CONFUSIONAL STATUS AND BRAIN EDEMA IN OLIGOMITOCHONDRIAL MYOPATHY
Authors: SERVIDEI S DIMUZIO A UNCINI A RICCI E SPINAZZOLA A SILVESTRI G PIANTADOSI C LODI R BARBIROLI B TONALI P
Citation: S. Servidei et al., RECURRENT CONFUSIONAL STATUS AND BRAIN EDEMA IN OLIGOMITOCHONDRIAL MYOPATHY, Neurology, 45(4), 1995, pp. 434-434
RRFS IN INFLAMMATORY MYOPATHIES ARE ASSOCIATED WITH MULTIPLE DELETIONS AND DEPLETIONS OF MITOCHONDRIAL-DNA (MTDNA)
Authors: RICCI E SILVESTRI G SERVIDEI S SPINAZZOLA A BROCCOLINI A RANA M BERTINI E TONALI P
Citation: E. Ricci et al., RRFS IN INFLAMMATORY MYOPATHIES ARE ASSOCIATED WITH MULTIPLE DELETIONS AND DEPLETIONS OF MITOCHONDRIAL-DNA (MTDNA), Neurology, 45(4), 1995, pp. 435-435
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