Publications:  Dr Jihee Kim

Kim J, Hopkinson M, Kavishwar M, Fernandez-Fuente M, Brown SC(2015). Prenatal muscle development in a mouse model for the secondary dystroglycanopathies. Skeletal Muscle vol. 6, (1) Article 3,

Foley AR, Pitceathly RDS, He J, Kim J, Pearson NM, Muntoni F, Hanna MG(2014). Whole-genome sequencing and the clinician: a tale of two cities. Journal of Neurology, Neurosurgery & Psychiatry vol. 85, (9) 1012-1015.

Whitmore C, Fernandez-Fuente M, Booler H, Parr C, Kavishwar M, Ashraf A, Lacey E, Kim J et al.(2014). The transgenic expression of LARGE exacerbates the muscle phenotype of dystroglycanopathy mice. Human Molecular Genetics vol. 23, (7) 1842-1855.

Kim J, Jimenez-Mallebrera C, Foley AR, Fernandez-Fuente M, Brown SC, Torelli S, Feng L, Sewry CA et al.(2012). Flow cytometry analysis: A quantitative method for collagen VI deficiency screening. Neuromuscular Disorders vol. 22, (2) 139-148.

Mamchaoui K, Trollet C, Bigot A, Negroni E, Chaouch S, Wolff A, Kandalla PK, Marie S et al.(2011). Immortalized pathological human myoblasts: towards a universal tool for the study of neuromuscular disorders. Skeletal Muscle vol. 1, (1) 34-34.

Forrest S, Meloni PL, Muntoni F, Kim J, Fletcher S, Wilton SD(2010). Personalized exon skipping strategies to address clustered non-deletion dystrophin mutations. Neuromuscular Disorders vol. 20, (12) 810-816.

Jimenez-Mallebrera C, Torelli S, Feng L, Kim J, Godfrey C, Clement E, Mein R, Abbs S et al.(2009). A Comparative Study of α-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α-Dystroglycan Does Not Consistently Correlate with Clinical Severity. Brain Pathology vol. 19, (4) 596-611.

Jimenez-Mallebrera C, Maioli MA, Kim J, Brown SC, Feng L, Lampe AK, Bushby K, Hicks D et al.(2006). A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations. Neuromuscular Disorders vol. 16, (9-10) 571-582.