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Human Molecular Genetics|September 10, 2002
Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cellsAnna Buj-Bello, Denis Furling, Hélène Tronchère, et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|February 27, 2004
Disease progression despite early loss of polyglutamine protein expression in SCA7 mouse modelDominique Helmlinger, Gretta Abou-Sleymane, Gaël Yvert, et al.
American Journal of Medical Genetics. Part A|August 25, 2004
Five years of molecular diagnosis of Fragile X syndrome (1997-2001): a collaborative study reporting 95% of the activity in FranceValérie Biancalana, Chérif Beldjord, Agnès Taillandier, et al.
Frontiers in Neuroscience|March 4, 2026
Correction: DYRK1A roles in human neural progenitorsJeremie Courraud, Angélique Quartier, Nathalie Drouot, et al.
Frontiers in Neuroscience|April 4, 2025
DYRK1A roles in human neural progenitorsJeremie Courraud, Angélique Quartier, Nathalie Drouot, et al.
Experimental Cell Research|August 28, 2003
NUFIP1 (nuclear FMRP interacting protein 1) is a nucleocytoplasmic shuttling protein associated with active synaptoneurosomesBarbara Bardoni, Rob Willemsen, Ivan Jeanne Weiler, et al.
Molecular Cell|August 23, 2002
Proteases acting on mutant huntingtin generate cleaved products that differentially build up cytoplasmic and nuclear inclusionsAstrid Lunkes, Katrin S Lindenberg, Léa Ben-Haïem, et al.
The American Journal of Pathology|April 26, 2011
Increased expression of wild-type or a centronuclear myopathy mutant of dynamin 2 in skeletal muscle of adult mice leads to structural defects and muscle weaknessBelinda S Cowling, Anne Toussaint, Leonela Amoasii, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 5, 2009
Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiationVincent Marion, Corinne Stoetzel, Dominique Schlicht, et al.
Neuromuscular Disorders : NMD|September 11, 2007
Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutationAndoni Echaniz-Laguna, Anne-Sophie Nicot, Sophie Carré, et al.
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