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Irène Maire

Observed names: Irene Maire, Irène MAIRE, MAIRE, IRENE
Institution: Hôpital Debrousse
OpenAlex ID: A5112795399
Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece
2010 · Bénédicte Héron, Yann Mikaeloff, et al. · American Journal of Medical Genetics Part A · 171
Type 2 Gaucher disease: 15 new cases and review of the literature
2005 · Cyril Mignot, Diana Doummar, et al. · Brain and Development · 160
Early Neurodegeneration Progresses Independently of Microglial Activation by Heparan Sulfate in the Brain of Mucopolysaccharidosis IIIB Mice
2008 · Jérôme Ausseil, Nathalie Desmaris, et al. · PLoS ONE · 152
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Fabry disease: Characterization of ?-galactosidase A double mutations and the D313Y plasma enzyme pseudodeficiency allele
2003 · Makiko Yasuda, Junaid Shabbeer, et al. · Human Mutation · 151
Safe, Efficient, and Reproducible Gene Therapy of the Brain in the Dog Models of Sanfilippo and Hurler Syndromes
2010 · N Matthew Ellinwood, Jérôme Ausseil, et al. · Molecular Therapy · 145
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Improved Behavior and Neuropathology in the Mouse Model of Sanfilippo Type IIIB Disease after Adeno-Associated Virus-Mediated Gene Transfer in the Striatum
2004 · Arnaud Cressant, Nathalie Desmaris, et al. · Journal of Neuroscience · 141
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A Gene on Chromosome 11q23 Coding for a Putative Glucose- 6-Phosphate Translocase Is Mutated in Glycogen-Storage Disease Types Ib and Ic
1998 · Maria Veiga-da-Cunha, Isabelle Gerin, et al. · The American Journal of Human Genetics · 125
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Mucopolysaccharidosis type II: an update on mutation spectrum
2007 · Roseline Froissart, Isabel Moreira Da Silva, et al. · Acta Paediatrica · 107
Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)
2006 · Martin Hřebíček, Lenka Mrázová, et al. · The American Journal of Human Genetics · 102
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The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a
1999 · Maria Veiga-da-Cunha, Isabelle Gerin, et al. · European Journal of Human Genetics · 102
Gene therapy of the brain in the dog model of Hurler's syndrome
2006 · Carine Ciron, Nathalie Desmaris, et al. · Annals of Neurology · 99
Mutations in the testis/liver isoform of the phosphorylase kinase γ subunit (PHKG2) cause autosomal liver glycogenosis in the gsd rat and in humans
1996 · Andrea J. Maichele, Barbara Burwinkel, et al. · Nature Genetics · 81
Gaucher Disease: The Origins of the Ashkenazi Jewish N370S and 84GG Acid β-Glucosidase Mutations
2000 · George A. Diaz, Bruce D. Gelb, et al. · The American Journal of Human Genetics · 78
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SIMPLE mutation analysis in dominant demyelinating Charcot‐Marie‐Tooth disease: three novel mutations
2006 · Philippe Latour, Pierre‐Marie Gonnaud, et al. · Journal of the Peripheral Nervous System · 66
Determination of oligosaccharides and glycolipids in amniotic fluid by electrospray ionisation tandem mass spectrometry: in utero indicators of lysosomal storage diseases
2004 · Steven L. Ramsay, Irene Maire, et al. · Molecular Genetics and Metabolism · 62
Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients
1998 · Roseline Froissart, Irène Maire, et al. · Clinical Genetics · 62
Biochemical diagnosis of hepatic glycogen storage diseases: 20 years French experience
1991 · Irene Maire, Christiane Baussan, et al. · Clinical Biochemistry · 51
Characterization of iduronate sulphatase mutants affecting N-glycosylation sites and the cysteine-84 residue
1997 · Gilles MILLAT, Roseline FROISSART, et al. · Biochemical Journal · 44
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Liver Circadian Clock, a Pharmacologic Target of Cyclin-dependent Kinase Inhibitor Seliciclib
2009 · Ida Iurisci, Elisabeth Filipski, et al. · Chronobiology International · 35
Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases
2002 · Befekadu Asfaw, Jana Ledvinová, et al. · Journal of Lipid Research · 35
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Amniotic fluid for screening of lysosomal storage diseases presenting in utero (mainly as non-immune hydrops fetalis)
1996 · Monique Piraud, Roseline Froissart, et al. · Clinica Chimica Acta · 35
Correlation of alkaline phosphatase (ALP) determination and analysis of the tissue non‐specific ALP gene in prenatal diagnosis of severe hypophosphatasia
1999 · Etienne Mornet, Françoise Muller, et al. · Prenatal Diagnosis · 31
Low β-glucuronidase enzyme activity and mutations in the human β-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote
1998 · R. Vervoort, Richard Gitzelmann, et al. · Human Genetics · 31
IDS gene-pseudogene exchange responsible for an intragenic deletion in a hunter patient
1996 · Anne-Marie Birot, Olivier Bouton, et al. · Human Mutation · 31
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Types I and III Gaucher Disease in Poland: Incidence of the Most Common Mutations and Phenotypic Manifestations
1996 · Anna Tylki-Stymańska, Gilles Millat, et al. · European Journal of Human Genetics · 27
Works count: 50
Citation count: 2,303
H-index: 25
I10-index: 32
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