CLINICAL, BIOCHEMICAL, AND MOLECULAR GENETIC ANALYSES OF HUMAN MITHOCHONDRIAL CARDIOMYOPATHIES
- 2 Anni 1996/1998
- 61.975€ Totale Fondi
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Pubblicazioni Scientifiche
- 1997 NEUROMUSCULAR DISORDERS
Mitochondrial tRNA(Cys) gene mutation (A5814G): A second family with mitochondrial encephalopathy
- 1999 AMERICAN JOURNAL OF HUMAN GENETICS
Maternally inherited cardiomyopathy: An atypical presentation of the mtDNA 12S rRNA gene A1555G mutation
- 2001 NEUROLOGY
Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a sephardic Jewish family
- 1999 NEUROLOGY
Mitochondrial G8363A mutation presenting as cerebellar ataxia and lipomas in an Italian family
- 1999 EUROPEAN JOURNAL OF HUMAN GENETICS
MtDNA-related idiopathic dilated cardiomyopathy
- 1998 MUSCLE & NERVE
Genetic heterogeneity of myoclonus epilepsy with ragged-red fibers syndrome
- 1999 JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY
Maternally inherited cardiomyopathy: Clinical and molecular characterization of a large kindred harboring the A4300G point mutation in mitochondrial deoxyribonucleic acid