MarieF.MontfortMD

PubMed

• Mutation and haplotype analyses in 26 Spanish Sanfilippo syndrome type A patients: possible single origin for 1091delC mutation.
  Chabás A, Montfort M, Martínez-Campos M, Díaz A, Coll MJ, Grinberg D, Vilageliu L> ;Am. J. Med. Genet.. 2001-05-01
• Clinical features and neuroradiological findings of mitochondrial pathology in six neonates.
  Gire, C., Girard, N., Nicaise, C., Einaudi, M. A., Montfort, M. F., Dejode, J. M.> ;Childs Nerv Syst. 2002 Nov
• [Cytochrome c oxydase-deficient Leigh syndrome with homozygous mutation in SURF1 gene].
  Monnot, S., Chabrol, B., Cano, A., Pellissier, J. F., Collignon, P., Montfort, M. F., Paquis-Flucklinger, V.> ;Arch Pediatr. 2005 May
• Inappropriate liver transplantation in a child with Alpers-Huttenlocher syndrome misdiagnosed as valproate-induced acute liver failure.
  Delarue, A., Paut, O., Guys, J. M., Montfort, M. F., Lethel, V., Roquelaure, B., Pellissier, J. F., Sarles, J., Camboulives, J.> ;Pediatr Transplant. 2000 Feb
• Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain.
  Chabrol, B., Sigaudy, S., Paquis, V., Montfort, M. F., Giudicelli, H., Pellissier, J. F., Millet, V., Mancini, J., Philip, N.> ;Am J Med Genet. 1997 Oct 17
• Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report.
  Vialettes, B. H., Paquis-Flucklinger, V., Pelissier, J. F., Bendahan, D., Narbonne, H., Silvestre-Aillaud, P., Montfort, M. F., Righini-Chossegros, M., Pouget, J., Coz...> ;Diabetes Care. 1997 Nov
• Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotyp...
  Aquaron, R., Bergé-Lefranc, J. L., Pellissier, J. F., Montfort, M. F., Mayan, M., Figarella-Branger, D., Coquet, M., Serratrice, G., Pouget, J.> ;Neuromuscul Disord. 2007 Mar
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