1. M. P. Muriel, A. Dauphin, M. Namekawa, A. Gervais, A. Brice, and M. Ruberg. Atlastin-1, the dynamin-like GTPase responsible for spastic paraplegia SPG3A, remodels lipid membranes and may form tubules and vesicles in the endoplasmic reticulum. J Neurochem, 110(5):1607-16, 2009. Note: Comparative StudyJournal ArticleResearch Support, Non-U.S. Gov'tEngland. [WWW] Keyword(s): Cell Line, Cytoplasmic Vesicles/*enzymology/genetics/ultrastructure, Dynamins/genetics/metabolism, Endoplasmic Reticulum/*enzymology/genetics/ultrastructure, GTP Phosphohydrolases/genetics/*metabolism/physiology, Humans, Membrane Lipids/genetics/*metabolism, Microtubules/*enzymology/genetics/ultrastructure, Protein Transport/physiology, Spastic Paraplegia, Hereditary/enzymology/genetics.



2. M. Namekawa, M. P. Muriel, A. Janer, M. Latouche, A. Dauphin, T. Debeir, E. Martin, C. Duyckaerts, A. Prigent, C. Depienne, A. Sittler, A. Brice, and M. Ruberg. Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis. Mol Cell Neurosci, 35(1):1-13, 2007. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adult, Cell Line, Cytoplasmic Vesicles/*enzymology/ultrastructure, Endoplasmic Reticulum/*enzymology/ultrastructure, Epitopes, GTP Phosphohydrolases/*genetics/*metabolism, Golgi Apparatus/*enzymology/ultrastructure, Humans, Kidney/cytology, Microscopy, Electron, Motor Cortex/cytology, Motor Neurons/*enzymology, Paraplegia/genetics/metabolism, Point Mutation, Protein Transport/physiology, Spinal Cord/cytology.



3. M. Namekawa, I. Nelson, P. Ribai, A. Durr, E. Denis, G. Stevanin, M. Ruberg, and A. Brice. A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene. Neurogenetics, 7(2):131-2, 2006. Note: LetterResearch Support, Non-U.S. Gov'tUnited States. [WWW]



4. M. Namekawa, P. Ribai, I. Nelson, S. Forlani, F. Fellmann, C. Goizet, C. Depienne, G. Stevanin, M. Ruberg, A. Durr, and A. Brice. SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years. Neurology, 66(1):112-4, 2006. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adolescent, Adult, Age of Onset, Aged, Brain/pathology/physiopathology, DNA Mutational Analysis, Family Health, GTP Phosphohydrolases/*genetics, Genetic Predisposition to Disease/*genetics, Genetic Screening, Humans, Male, Middle Aged, Mutation/*genetics, Peripheral Nerves/pathology/physiopathology, Phenotype, Spastic Paraplegia, Hereditary/diagnosis/*genetics/physiopathology, Wallerian Degeneration/diagnosis/genetics.



5. N. Bouslam, A. Benomar, H. Azzedine, A. Bouhouche, M. Namekawa, S. Klebe, C. Charon, A. Durr, M. Ruberg, A. Brice, M. Yahyaoui, and G. Stevanin. Mapping of a new form of pure autosomal recessive spastic paraplegia (SPG28). Ann Neurol, 57(4):567-71, 2005. Note: Journal ArticleResearch Support, Non-U.S. Gov'tUnited States. [WWW] Keyword(s): Adult, *Chromosome Mapping, *Chromosomes, Human, Pair 14, Female, Humans, Lod Score, Male, Microsatellite Repeats, Middle Aged, Morocco, Pedigree, Polymerase Chain Reaction, Spastic Paraplegia, Hereditary/*genetics.

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