D. Burke

发表

A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis

W. Zein, O. Mahroo, G. Arno, 2020, American journal of medical genetics. Part C, Seminars in medical genetics.

Fetal gene therapy for neurodegenerative disease of infants

Kevin Mills, Arijit Biswas, Sebastian Brandner, 2018, Nature Medicine.

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 disease): Expert recommendations for early detection and laboratory diagnosis.

J. Cooper, R. Giugliani, Z. Lukacs, 2016, Molecular genetics and metabolism.

Interplay between Glucocerebrosidase 1 and Glucocerebrosidase 2; potential implications for the pathogenesis of Gaucher and Parkinson's diseases

D. Burke, 2017 .

Cerebellar and Midbrain Lysosomal Enzyme Deficiency in Isolated Dystonia

A. Batla, K. Bhatia, S. Schreglmann, 2022, Movement disorders : official journal of the Movement Disorder Society.

Safety and efficacy of an engineered hepatotropic AAV gene therapy for ornithine transcarbamylase deficiency in cynomolgus monkeys

I. Alexander, A. Thrasher, P. Gissen, 2021, Molecular therapy. Methods & clinical development.

Lysosomal enzyme deficiency and GBA mutations in Dystonia

A. Batla, K. Bhatia, N. Wood, 2020, medRxiv.

Inhibition of neuronal mitochondrial complex I or lysosomal glucocerebrosidase is associated with increased dopamine and serotonin turnover

S. Heales, S. Eaton, D. Burke, 2017, Neurochemistry International.

Glucocerebrosidase 1 de fi cient Danio rerio mirror key pathological aspects of human Gaucher disease and provide evidence of earlymicroglial activation preceding alpha-synuclein-independent neuronal cell death

J. Highley, H. Mortiboys, A. Fleming, 2015 .

Movement Disorders in Adult Patients With Classical Galactosemia

I. Parees, M. Edwards, K. Bhatia, 2013, Movement disorders : official journal of the Movement Disorder Society.

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Y. Okazaki, J. Smeitink, L. P. Van den Heuvel, 2017, Brain : a journal of neurology.

Inhibition of Mitochondrial Complex I Impairs Release of α-Galactosidase by Jurkat Cells

A. Rahim, S. Howe, D. Burke, 2019, International journal of molecular sciences.

Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease

S. Benedetti, Daniel W. Stuckey, A. Thrasher, 2020, Molecular therapy. Methods & clinical development.

Successful Desensitisation in a Patient with CRIM-Positive Infantile-Onset Pompe Disease.

A. Broomfield, A. Vellodi, D. Burke, 2014, JIMD reports.

Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates

A. Reuser, M. Kroos, M. Jackson, 2009, Journal of Inherited Metabolic Disease.

Increased glucocerebrosidase (GBA) 2 activity in GBA1 deficient mice brains and in Gaucher leucocytes

K. Bhatia, S. Karlsson, A. Mehta, 2013, Journal of Inherited Metabolic Disease.

Glucocerebrosidase Deficiency in Substantia Nigra of Parkinson Disease Brains

J. Hardy, A. Schapira, N. Wood, 2012, Annals of neurology.

An LC–MS/MS-Based Method for the Quantification of Pyridox(am)ine 5′-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy

K. Mills, P. Clayton, S. Heales, 2017, Analytical chemistry.

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.

E. Stupka, M. Dattani, F. Alkuraya, 2013, Brain : a journal of neurology.

Glucocerebrosidase 1 deficient Danio rerio mirror key pathological aspects of human Gaucher disease and provide evidence of early microglial activation preceding alpha-synuclein-independent neuronal cell death

S. D. de Jager, J. Highley, A. Schapira, 2015, Human molecular genetics.

Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

K. Bötzel, R. Jech, B. Haslinger, 2020, Annals of neurology.

ATAD 3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism

Y. Okazaki, J. Smeitink, S. Heales, 2017 .

The Meetings of the Society of British Neurological Surgeons Detection in Cerebrospinal Fluid Leakage, 664 Alpers' Disease. See Cerebral Poliodystrophy, Progressive of the Skull, 88 Analogue Analyser Technique for Detecting Changes in Action Potential Duration in Quantitative Electromyography, 216

Everard, M. Albert, M. LeMay, 2022 .

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.

Atypical parkinsonism with apraxia and supranuclear gaze abnormalities in type 1 Gaucher disease. Expanding the spectrum: Case report and literature review

M. Edwards, K. Bhatia, N. Wood, 2010, Movement disorders : official journal of the Movement Disorder Society.

Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI.

Kevin Mills, Neil J Sebire, Paul Gissen, 2015, Analytical chemistry.

Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases

A. Vellodi, D. Burke, S. Heales, 2012, Journal of Inherited Metabolic Disease.

Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology

T. Jacques, N. Wood, H. Houlden, 2014, Neurology.

Lysosomal β-glucosidase (GBA1) and non-lysosomal β-glucosidase (GBA2): Potential involvement in the pathogenesis of Gaucher disease/Parkinson disease

A. Vellodi, D. Burke, S. Heales, 2015 .

93Glucose tetrasaccharide as a biomarker in Pompe disease and other glycogen storage diseases

D. Burke, K. Harvey, S. Heales, 2013 .

Urinary glucose tetrasaccharide, a useful prognostic biomarker for Pompe disease?

D. Burke, K. Harvey, M. Cleary, 2019, Molecular Genetics and Metabolism.