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Michel Cohen-Solal

French Institute of Health and Medical Research

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A PHASE 3 RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED STUDY INVESTIGATING THE EFFICACY AND SAFETY OF BUROSUMAB, AN ANTI-FGF23 ANTIBODY, IN ADULT X-LINKED HYPOPHOSPHATEMIA (XLH)

2018 Osteoporosis International
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A phosphoglycerate kinase mutant (PGK Herlev; D285V) in a Danish patient with isolated chronic hemolytic anemia: Mechanism of mutation and structure–function relationships

1998 Human Mutation
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The 1591C mutation in triosephosphate isomerase (TPI) deficiency. Tightly linked polymorphisms and a common haplotype in all known families.

1996 Blood Cells Molecules and Diseases
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Hematologically Important Mutations: Triosephosphate Isomerase

1996 Blood Cells Molecules and Diseases
- Arthur S. Schneider
- Michel Cohen-Solal
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PK Mondor: prenatal diagnosis of a frameshift mutation in the LR pyruvate kinase gene associated with severe hereditary non-spherocytic haemolytic anaemia.

1996 Prenatal Diagnosis
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Five unknown mutations in the LR pyruvate kinase gene associated with severe hereditary nonspherocytic haemolytic anaemia in France

1996 British Journal of Haematology
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Identification of new mutations in two phosphoglycerate kinase (PGK) variants expressing different clinical syndromes: PGK Creteil and PGK Amiens

1994 Blood
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Isolation and characterization of the gene encoding the muscle-specific isozyme of human phosphoglycerate mutase.

1990 Gene
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Nucleotide sequence of a cDNA encoding a larval α-globin chain of the amphibian Pleurodeles waltlii

1989 Nucleic Acids Research
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Human bisphosphoglycerate mutase. Expression in Escherichia coli and use of site-directed mutagenesis in the evaluation of the role of the carboxyl-terminal region in the enzymatic mechanism.

1989 Journal of Biological Chemistry
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Citations (22)