MOLECULAR BASIS OF MYOPHOSPHORYLASE DEFICIENCY
- 2 Anni 1993/1995
- 61.975€ Totale Fondi
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Pubblicazioni Scientifiche
- 1995 HUMAN MUTATION
2 NOVEL MISSENSE MUTATIONS (E654K, L396P) IN CAUCASIAN PATIENTS WITH MYOPHOSPHORYLASE DEFICIENCY (MCARDLES-DISEASE)
- 1996 JOURNAL OF THE NEUROLOGICAL SCIENCES
Molecular characterization of myophosphorylase deficiency in a group of patients from Northern Italy
- 1995 JOURNAL OF THE NEUROLOGICAL SCIENCES
MYOPHOSPHORYLASE DEFICIENCY AFFECTS MUSCLE MITOCHONDRIAL RESPIRATION AS SHOWN BY P-31-MR SPECTROSCOPY IN A CASE WITH ASSOCIATED MULTIFOCAL ENCEPHALOPATHY
