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| 1 | Congenital and childhood myotonic dystrophy:Current aspects of disease and future directions显示文摘Myotonic dystrophy type 1(DM1) is multisystem disease arising from mutant CTG expansion in the nontranslating region of the dystrophia myotonica protein kinase gene. While DM1 is the most common adult muscular dystrophy, with a worldwide prevalence of one in eight thousand, age of onset varies from before birth to adulthood. There is a broad spectrum of clinical severity, ranging from mild to severe, which correlates with number of DNA repeats. Importantly, the early clinical manifestations and management in congenital and childhood DM1 differ from classic adult DM1. In neonates and children, DM1 predominantly affects muscle strength, cognition, respiratory, central nervous and gastrointestinal systems. Sleep disorders are often under recognised yet a significant morbidity. No effective disease modifying treatment is currently available and neonates and children with DM1 may experience severe physical and intellectual disability, which may be life limiting in the most severe forms. Management is currently supportive, incorporating regular surveillance and treatment of manifestations. Novel therapies, which target the gene and the pathogenic mechanism of abnormal splicing are emerging. Genetic counselling is critical in this autosomal dominant genetic disease with variable penetrance and potential maternal anticipation, as is assisting with family planning and undertaking cascade testing to instigate health surveillance in affected family members. This review incorporates discussion of the clinical manifestations and management of congenital and childhood DM1, with a particular focus on hypersomnolence and sleep disorders. In addition, the molecular genetics, mechanisms of disease pathogenesis and development of novel treatment strategies in DM1 will be summarised. | Genevieve Ho Michael Cardamone Michelle Farrar | 2015 | World Journal of Clinical Pediatrics2015，4，4： | 2 |
| 2 | Controlling shrinkage in wool fabrics: effective hydrogen peroxide systems 显示文摘 | CARDAMONE J M YAO J NUNEZ A | 2004 | Textile Research Journal2004，74，10： | 1 |
| 3 | R&D Spillovers and Firms' Performance in Italy: Evidence from a Flexible Production Function 显示文摘 | Aiello F Cardamone P | 2006 | In- ternational Journal of Industrial Organization2006，，24： | 1 |
| 4 | In Vitro Testing of a Pulsatile Delivery System and Its in Vivo Application for Immunization Against Tetanus Toxoid显示文摘 | CARDAMONE M LOFTHOUSE S A LUCAS J C | 1997 | J Controlled Release1997，47，3： | 1 |
| 5 | Mod- elling carotid artery adaptations to dynamic alterations in pressure and flow over the cardiac cycle 显示文摘 | CARDAMONE L VALENTIN A EBERTH JF | 2010 | Math Med Biol2010，27，4： | 1 |
| 6 | In vitro testing of a pulsatile delivery system and its in vivo application for immunization against tetanus toxid 显示文摘 | Cardamone M Lofthouse SA Lucas JC | 1997 | J Controlled Release1997，47，3： | 1 |
| 7 | Low-temperature dyeing of wool processed for shrinkage control显示文摘 | Jeanette M Cardamone William C Damert | 2006 | Textile Res J2006，76，1： | 1 |
| 8 | Highly Efficient Palladium-catalyzed Boronic Acid Coupling Reactions in Water: Scope and Limitations显示文摘 | Badone D Baroni M Cardamone R | 1997 | J Org Chem1997，62，21： | 1 |
| 9 | A genetic diagnostic approach to infantile epileptic encephalopathies 显示文摘 | Kamien BA Cardamone M Lawson JA | 2012 | J Clin Neurosci2012，19，7： | 1 |
| 10 | In vitro testing of a pulsatile delivery system and its in vivo application for immunization against tetanus toxoid显示文摘 | Michael Cardamone Shari A Lofthouse Jane C Lucas | 1997 | J Controlled Release1997，47，： | 1 |
| 11 | Boundary Layer Investigations on a Highly Loaded Transonic Compressor Cascade with Shock/Laminar Boundary l,ayer Interac- tions 显示文摘 | Hilgenfeld 1~ Cardamone P Fottner L | 2003 | Proceedings of' the Institution o[' Mechanical Engineers Part A: Journal of Power and Energy2003，217，4： | 1 |
| 12 | Investigating the microstructure of keratin extracted from wool:Peptide sequence (MALDI-TOF/TOF) and protein conformation (FTIR)显示文摘 | Cardamone J M | 2010 | J Mol Struct2010，969，1： | 1 |
| 13 | Characterizing wool keratin显示文摘 | Cardamone J M Zufez A Garcia R A | 2009 | Res Lett Mater Sci2009，2009，： | 1 |
| 14 | Spectrofluorimetric assessment of the surface hydrophobicity of proteins显示文摘 | Cardamone M Puri N K | 1992 | Biochem J1992，282，： | 1 |
| 15 | DCCA shrinkproofing of wool: part Ⅰ: importance of antichlorination显示文摘 | CARDAMONE J M YAO Jiming NUNEZ A | 2004 | Textile Res J2004，74，6： | 1 |
| 16 | Progressive metabolic and structural cerebral perturbations after traumatic brain injury: an in vivo imaging study in the rat显示文摘 | Liu YR Cardamone L Hogan RE | 2010 | J Nucl Med2010，51，： | 1 |
| 17 | Combined bleaching, shrinkage prevention, and biopolishing of wool fabrics显示文摘 | Cardamone Jeanette M | 2005 | Textile Research Journal2005，75，2： | 1 |
| 18 | Controlling shrinkage in wool fabrics: effective hydrogen peroxide systems显示文摘 | CARDAMONE J M YAO Jiming NUNEZ A | 2004 | Textile Res J2004，74，10： | 1 |
| 19 | Combines bleaching, shrinkage prevention and biopolishing of wool fabries显示文摘 | CARDAMONE J M YAO Jiming PHILLIPS J G | 2005 | Textile Res J2005，75，2： | 1 |
| 20 | Comparing the refolding and reoxidation of recombinant porcine growth hormone from a urea denatured state and from Escherichia coli inclusion bodies显示文摘 | Cardamone M Puri NK Brandon M R | 1995 | Biochemistry1995，34，： | 1 |
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