S. Jackson

发表

Acute fatty liver of pregnancy and long‐chain 3‐hydroxyacyl–coenzyme A dehydrogenase deficiency

D. Turnbull, C. Stanley, D. Hale, 1994, Hepatology.

Combined enzyme defect of mitochondrial fatty acid oxidation.

D. Turnbull, L. Bindoff, M. Pourfarzam, 1992, The Journal of clinical investigation.

The measurement of carnitine and acyl-carnitines: application to the investigation of patients with suspected inherited disorders of mitochondrial fatty acid oxidation.

D. Turnbull, J. Leonard, A. Aynsley-Green, 1992, Clinica chimica acta; international journal of clinical chemistry.

implications for diagnosis and therapy . carnitine palmitoyltransferase deficiency : palmitoyltransferases in patients with a Characterisation of carnitine

F. Taroni, S. Jackson, J. Schaefer, 2003 .

Characterisation of carnitine palmitoyltransferases in patients with a carnitine palmitoyltransferase deficiency: implications for diagnosis and therapy.

D. Turnbull, F. Taroni, S. Jackson, 1997, Journal of neurology, neurosurgery, and psychiatry.

Very long‐chain acyl coenzyme A dehydrogenase deficiency presenting with exercise‐induced myoglobinuria

D. Turnbull, M. Pourfarzam, S. Jackson, 1994, Neurology.

Myogenic tremor – a novel tremor entity

C. Bönnemann, S. Jackson, J. Schaefer, 2021, Current opinion in neurology.

Decreased glucose uptake in myoblasts from insulin resistant non-diabetic relatives of type 2 diabetic families

D. Turnbull, S. Yeaman, S. Jackson, 2000 .

Impaired mitochondrial beta-oxidation in a patient with an abnormality of the respiratory chain. Studies in skeletal muscle mitochondria.

D. Turnbull, C. Ragan, L. Bindoff, 1990, The Journal of clinical investigation.

Decreased insulin responsiveness of glucose uptake in cultured human skeletal muscle cells from insulin-resistant nondiabetic relatives of type 2 diabetic families.

D. Turnbull, S. Lynn, S. Yeaman, 2000, Diabetes.

ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ Deficiency

R. de Cabo, M. Aon, G. López-Lluch, 2019, Journal of clinical medicine.

1 ADCK 2 haploinsufficiency reduces mitochondrial 2 lipid oxidation and causes myopathy associated with 3 CoQ deficiency 4

M. Aon, G. López-Lluch, P. Navas, 2019 .

Mitochondrial abnormalities in the myofibrillar myopathies

H. Reichmann, M. Meinhardt, S. Jackson, 2015, European journal of neurology.

Trifunctional enzyme deficiency: Adult presentation of a usually fatal β‐oxidation defect

D. Turnbull, D. Dick, S. Jackson, 1996, Annals of neurology.

Metabolic consequences of methylenecyclopropylglycine poisoning in rats.

S. Ghisla, S. Jackson, K. Bartlett, 1991, The Biochemical journal.

Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation.

D. Turnbull, L. Bindoff, S. Eaton, 1991, The Journal of biological chemistry.

Fatty Acid Oxidation in Peripheral Blood Cells: Characterization and Use for the Diagnosis of Defects of Fatty Acid Oxidation

D. Turnbull, M. Pourfarzam, S. Jackson, 1995, Pediatric Research.

Coenzyme Q10 deficiencies in neuromuscular diseases.

P. Navas, R. Artuch, L. Salviati, 2009, Advances in experimental medicine and biology.

Combined defect of long-chain 3-hydroxyacyl-CoA dehydrogenase, 2-enoyl-CoA hydratase and 3-oxoacyl-CoA thiolase.

D. Turnbull, L. Bindoff, M. Pourfarzam, 1992, Progress in clinical and biological research.

Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency

D. Turnbull, J. Leonard, S. Jackson, 1991, Pediatric Research.

Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency with the G1528C mutation: clinical presentation of thirteen patients.

A. Palotie, R. Wanders, R. Wanders, 1997, The Journal of pediatrics.

Light affects mitochondria to cause apoptosis to cultured cells: possible relevance to ganglion cell death in certain optic neuropathies

Guang-Yu Li, H. Mortiboys, D. Ji, 2008, Journal of neurochemistry.

Screening of effective pharmacological treatments for MELAS syndrome using yeasts, fibroblasts and cybrid models of the disease

M. Álvarez-Dolado, P. Navas, S. Francisci, 2012, British journal of pharmacology.

The sequence of the flavoprotein subunit of bovine heart succinate dehydrogenase.

D. Turnbull, A. Aitken, L. Bindoff, 1992, The Journal of biological chemistry.

Mitochondrial Cytopathies

H. Reichmann, S. Jackson, J. Schäfer, 2003 .

Expanded phenotypic spectrum of the m.8344A>G “MERRF” mutation: data from the German mitoNET registry

H. Prokisch, K. Kuhn, L. Schöls, 2016, Journal of Neurology.

Impaired Mitochondrial a-Oxidation in a Patient with an Abnormality of the Respiratory Chain Studies in Skeletal Muscle Mitochondria

L. Bindoff, J. Poulton, S. Jackson, 2013 .

Parkin-mediated mitophagy and autophagy flux disruption in cellular models of MERRF syndrome.

A. Rodríguez-Moreno, S. Jackson, J. Sánchez-Alcázar, 2020, Biochimica et biophysica acta. Molecular basis of disease.

deficiency: implications for diagnosis and therapy

F. Taroni, S. Jackson, J. Schaefer, 2003 .

Progression of Parkinson's Disease Pathology Is Reproduced by Intragastric Administration of Rotenone in Mice

H. Reichmann, M. Spillantini, R. Funk, 2010, PloS one.

Measurement of acyl-CoA dehydrogenase activity in cultured skin fibroblasts and blood platelets

D. Turnbull, M. Pourfarzam, S. Jackson, 1992, Journal of Inherited Metabolic Disease.

Pathophysiological characterization of MERRF patient-specific induced neurons generated by direct reprogramming.

S. Jackson, J. Sánchez-Alcázar, Marina Villanueva-Paz, 2019, Biochimica et biophysica acta. Molecular cell research.

Secondary coenzyme Q10 deficiency triggers mitochondria degradation by mitophagy in MELAS fibroblasts

P. Navas, M. Cordero, S. Jackson, 2011, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Serum Neurofilament Light Chain: A Marker of Nervous System Damage in Myopathies

T. Ziemssen, P. Benkert, J. Kuhle, 2021, Frontiers in Neuroscience.

Variable penetrance of a familial progressive necrotising encephalopathy due to a novel tRNAIle homoplasmic mutation in the mitochondrial genome

Y. Kirino, H. Reichmann, M. Zeviani, 2004, Journal of Medical Genetics.

Critical role of AMP-activated protein kinase in the balance between mitophagy and mitochondrial biogenesis in MELAS disease.

M. Cordero, S. Jackson, J. Sánchez-Alcázar, 2015, Biochimica et biophysica acta.

Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy

C. Bönnemann, S. Pajusalu, D. Haubenberger, 2019, Annals of neurology.

Title Progression of Parkinson ’ s disease pathology is reproduced by intragastric administration of rotenone in mice Authors and Affiliations

H. Reichmann, M. Spillantini, R. Funk, 2010 .

Mitochondrial dysfunction in Parkinson's disease--revisited.

H. Reichmann, H. Mortiboys, S. Jackson, 2007, Neurologia i neurochirurgia polska.

Recovery of MERRF Fibroblasts and Cybrids Pathophysiology by Coenzyme Q10

M. Cordero, S. Jackson, J. Sánchez-Alcázar, 2012, Neurotherapeutics.

Characterisation of a novel enzyme of human fatty acid beta-oxidation: a matrix-associated, mitochondrial 2-enoyl-CoA hydratase.

D. Turnbull, S. Jackson, B. Middleton, 1995, Biochemical and biophysical research communications.

Lipid storage myopathy associated with low acyl-CoA dehydrogenase activities.

D. Turnbull, M. Johnson, B. Ashworth, 1988, Brain : a journal of neurology.

Autosomal dominant mutations in POLG and C10orf2: association with late onset chronic progressive external ophthalmoplegia and Parkinsonism in two patients

N. Diederich, S. Jackson, Madhu Soni, 2013, Journal of Neurology.