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Incidence and natural history of mucopolysaccharidosis type III in France and comparison with United Kingdom and Greece
- B. Héron, Y. Mikaeloff, M. Tardieu
- MedicineAmerican journal of medical genetics. Part A
- 1 January 2011
TLDR
Twenty‐two novel mutations in the lysosomal α‐glucosidase gene (GAA) underscore the genotype–phenotype correlation in glycogen storage disease type II
- M. Hermans, D. V. Leenen, A. Reuser
- BiologyHuman mutation
- 1 January 2004
TLDR
Force majeure: therapeutic measures in response to restricted supply of imiglucerase (Cerezyme) for patients with Gaucher disease.
- C. Hollak, S. vom Dahl, T. Cox
- MedicineBlood cells, molecules & diseases
- 15 January 2010
Mutation analyses in 17 patients with deficiency in acid β-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B
- E. Paschke, I. Milos, B. Radeva
- BiologyHuman Genetics
- 1 August 2001
TLDR
The expanding spectrum of disorders with elevated plasma chitotriosidase activity:An update
- H. Michelakakis, E. Dimitriou, I. Labadaridis
- Biology, MedicineJournal of Inherited Metabolic Disease
- 1 September 2004
TLDR
The molecular basis of canavan (aspartoacylase deficiency) disease in European non-Jewish patients.
- A. Shaag, Y. Anikster, M. Zabot
- Biology, MedicineAmerican journal of human genetics
- 1 September 1995
TLDR
Diagnosis and management of trimethylaminuria (FMO3 deficiency) in children
- R. Chalmers, M. Bain, H. Michelakakis, J. Zschocke, R. Iles
- MedicineJournal of Inherited Metabolic Disease
- 1 February 2006
TLDR
Update of the pompe disease mutation database with 60 novel GAA sequence variants and additional studies on the functional effect of 34 previously reported variants
- M. Kroos, M. Hoogeveen‐Westerveld, Kristof Verhoeven
- BiologyHuman mutation
- 1 August 2012
TLDR
Loss of β-Glucocerebrosidase Activity Does Not Affect Alpha-Synuclein Levels or Lysosomal Function in Neuronal Cells
- Georgia Dermentzaki, E. Dimitriou, M. Xilouri, H. Michelakakis, L. Stefanis
- BiologyPloS one
- 8 April 2013
TLDR
β-Glucocerebrosidase gene mutations in two cohorts of Greek patients with sporadic Parkinson's disease.
- M. Moraitou, G. Hadjigeorgiou, H. Michelakakis
- Medicine, BiologyMolecular genetics and metabolism
- 1 September 2011
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