C. Beesley

发表

Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB)

C. Beesley, M. Jackson, E. Young, 2005, Journal of Inherited Metabolic Disease.

Autophagic vacuolar myopathy in twin girls

J. Holton, C. Beesley, M. Jackson, 2006, Neuropathology and applied neurobiology.

Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry.

K. Mills, C. Beesley, M. Jackson, 2009, Molecular genetics and metabolism.

Genotype-phenotype relationship of Niemann-Pick disease type C : a possible correlation between clinical onset and levels of NPC 1 protein in isolated skin fibroblasts

C. Beesley, E. Young, A. Vellodi, 2000 .

IDUA mutational profile and genotype–phenotype relationships in UK patients with Mucopolysaccharidosis Type I

W. Yue, A. Broomfield, C. Beesley, 2017, Human mutation.

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase.

P. Scambler, R. Surtees, P. Clayton, 2005, Human molecular genetics.

Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy

A. Broomfield, A. Chakrapani, C. Beesley, 2016, Journal of Inherited Metabolic Disease.

Twenty‐two novel mutations in the lysosomal α‐glucosidase gene (GAA) underscore the genotype–phenotype correlation in glycogen storage disease type II

D. V. Leenen, J. Fletcher, R. Wevers, 2004, Human mutation.

Mutational analysis of 85 mucopolysaccharidosis type I families: frequency of known mutations, identification of 17 novel mutations and in vitro expression of missense mutations

C. Beesley, E. Young, A. Vellodi, 2001, Human Genetics.

Sanfilippo B syndrome: molecular defects in Greek patients

C. Beesley, B. Winchester, H. Michelakakis, 2004, Clinical genetics.

Ten years of enzyme replacement therapy in paediatric onset mucopolysaccharidosis II in England.

U. Ramaswami, A. Broomfield, P. Hensman, 2020, Molecular genetics and metabolism.

Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes

T. Jacques, W. Yue, S. Rahman, 2016, Brain : a journal of neurology.

The heterogeneity of hyperinsulinaemic hypoglycaemia in 19 patients with Beckwith-Wiedemann syndrome due to KvDMR1 hypomethylation

K. Hussain, S. Senniappan, C. Beesley, 2011, Journal of pediatric endocrinology & metabolism : JPEM.

Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).

T. Hudson, A. Verner, A. Pshezhetsky, 2006, American journal of human genetics.

Mutations in TMEM76* Cause Mucopolysaccharidosis IIIC

T. Hudson, A. Verner, A. Pshezhetsky, 2006 .

Diagnosis of congenital disorders of glycosylation type‐I using protein chip technology

K. Mills, J. Langridge, P. Clayton, 2006, Proteomics.

Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.

D. Brooks, R. Giugliani, U. Matte, 2003, Molecular genetics and metabolism.

Expanding the phenotype in argininosuccinic aciduria: need for new therapies

R. Lachmann, A. Broomfield, E. Jameson, 2017, Journal of Inherited Metabolic Disease.

Mucopolysaccharidosis type I in 21 Czech and Slovak patients: Mutation analysis suggests a functional importance of C-terminus of the IDUA protein

A. Hlavatá, J. Zeman, C. Beesley, 2009, American journal of medical genetics. Part A.

Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene

C. Beesley, M. Jackson, E. Young, 2003, Journal of medical genetics.

Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

C. Beesley, E. Young, A. Vellodi, 1998, Journal of medical genetics.

Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID).

M. Filocamo, P. Strisciuglio, C. Beesley, 2007, Molecular genetics and metabolism.

Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1

P. Clayton, C. Beesley, B. Winchester, 2000, Journal of Inherited Metabolic Disease.

Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome

S. Ellard, C. Shaw-Smith, Xiang-Jiao Yang, 2020, HGG advances.

The identification of five novel mutations in the lysosomal acid a‐(1,4) glucosidase gene from patients with glycogen storage disease type II

M. Yacoub, A. Child, C. Beesley, 1998 .

Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations

C. Beesley, E. Young, A. Vellodi, 2000, Journal of medical genetics.

Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A

T. Braulke, J. Hopwood, S. Storch, 2004, Human mutation.