Browsing by Author Smith, Janine

Jump to: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
or enter first few letters:  
Showing results 1 to 3 of 3
Issue DateTitleAuthor(s)Citation
2008Brain involvement in muscular dystrophies with defective dystroglycan glycosylationNorth, Kathryn; Smith, Janine; Bushby, Kate; Clement, Emma; Cowan, F M; et al, Not Known; Godfrey, Caroline; Kinali, Maria; Manzur, Adnan; Mercuri, Eugenio; Robb, Stephanie; Straub, Volker; Talim, Beril; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsBrain involvement in muscular dystrophies with defective dystroglycan glycosylation, Annals of Neurology, vol.64,(5),2008,pp 573-582
2005Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy.North, Kathryn; Smith, Janine; Bergmann, Carsten; Blaschek, Astrid; Breitbach-Faller, Nico; et, al; Krieger, Michael; Moser, Markus; Rudnik-Schöneborn, Sabine; Senderek, Jan; Stendel, Claudia; Wolf, Nicole I.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsMutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy., Nature Genetics, vol.37,(12),2005,pp 1312-1314
2007Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycanNorth, Kathryn; Smith, Janine; Abbs, Stephen; Brockington, Martin; Brown, Susan C; Bushby, Kate; Clement, Emma; Feng, Lucy; Godfrey, Caroline; Jimenez-Mallebrera, Cecilia; Kinali, Maria; Manzur, Eugenio; Mein, Rachael; Mercuri, Eugenio; Muntoni, Francesco; Quinlivan, Ros; Robb, Stephanie; Sewry, Caroline A; Straub, Volker; Talim, Beril; Topalogu, Haluk; Torelli, Silvia; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Childrens Medical Research InsRefining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan, Brain (2005), vol.130,(10),2007,pp 2725-2735