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Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

Brain (London, England : 1878), 2014-05, Vol.137 (5), p.1350-1360

2014

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Mitochondrial disorders and general anaesthesia: a case series and review

British journal of anaesthesia : BJA, 2008-04, Vol.100 (4), p.436-441

2008

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Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review

Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.313-319

2009

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Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy

Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.253-256

2010

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G471 Clinical characteristics, laboratory findings and management data in a single-center cohort of patients with heterozygous familial hypercholesterolemia

Archives of disease in childhood, 2020-10, Vol.105 (Suppl 1), p.A169-A169

2020

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Enzyme replacement therapy infusion related reactions: a large single-centre review of children with lysosomal storage disorders

Archives of disease in childhood, 2017-05, Vol.102 (5), p.A152

2017

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G388(P) Enzyme replacement therapy infusion related reactions: a large single-centre review of children with lysosomal storage disorders

Archives of disease in childhood, 2017-05, Vol.102 (Suppl 1), p.A152-A153

2017

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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

Analytical chemistry (Washington), 2017-09, Vol.89 (17), p.8892-8900

2017

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Vitamin b6 and serotonin metabolism in neurological disorders of childhood

Footitt, E J

2013

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The impact of global warming on germination and seedling emergence in Alliaria petiolata a woodland species with dormancy loss dependent on low temperature

Plant biology (Stuttgart, Germany), 2018-07, Vol.20 (4), p.682-690

2018

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Seed dormancy cycling and the regulation of dormancy mechanisms to time germination in variable field environments

Journal of experimental botany, 2017-02, Vol.68 (4), p.843-856

2017

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A laboratory simulation of Arabidopsis seed dormancy cycling provides new insight into its regulation by clock genes and the dormancy‐related genes DOG1, MFT, CIPK23 and PHYA

Plant, cell and environment, 2017-08, Vol.40 (8), p.1474-1486

2017

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Dormancy cycling in Arabidopsis seeds is controlled by seasonally distinct hormone-signaling pathways

Proceedings of the National Academy of Sciences - PNAS, 2011-12, Vol.108 (50), p.20236-20241

2011

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Predicted global warming scenarios impact on the mother plant to alter seed dormancy and germination behaviour in Arabidopsis

Plant, cell and environment, 2018-01, Vol.41 (1), p.187-197

2018

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DNA damage checkpoint kinase ATM regulates germination and maintains genome stability in seeds

Proceedings of the National Academy of Sciences - PNAS, 2016-08, Vol.113 (34), p.9647-9652

2016

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Temperature, light and nitrate sensing coordinate Arabidopsis seed dormancy cycling, resulting in winter and summer annual phenotypes

The Plant journal : for cell and molecular biology, 2013-06, Vol.74 (6), p.1003-1015

2013

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Seed dormancy is a dynamic state: variable responses to pre- and post-shedding environmental signals in seeds of contrasting Arabidopsis ecotypes

Seed science research, 2015-06, Vol.25 (2), p.159-169

2015

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Environment sensing in spring‐dispersed seeds of a winter annual Arabidopsis influences the regulation of dormancy to align germination potential with seasonal changes

The New phytologist, 2014-05, Vol.202 (3), p.929-939

2014

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Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

Journal of inherited metabolic disease, 2021-01, Vol.44 (1), p.178-192

2021

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Aquaporins influence seed dormancy and germination in response to stress

Plant, cell and environment, 2019-08, Vol.42 (8), p.2325-2339

2019

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An improved method for the rapid isolation of RNA from Arabidopsis and seeds of other species high in polyphenols and polysaccharides

Seed science research, 2018-12, Vol.28 (4), p.360-364

2018

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Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

Molecular genetics and metabolism, 2022-04, Vol.135 (4), p.350-356

2022

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Trait analysis reveals DOG1 determines initial depth of seed dormancy, but not changes during dormancy cycling that result in seedling emergence timing

The New phytologist, 2020-03, Vol.225 (5), p.2035-2047

2020

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Changes in phenological events in response to a global warming scenario reveal greater adaptability of winter annual compared with summer annual arabidopsis ecotypes

Annals of botany, 2021-01, Vol.127 (1), p.111-122

2021

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Interaction of maternal environment and allelic differences in seed vigour genes determines seed performance in Brassica oleracea

The Plant journal : for cell and molecular biology, 2018-06, Vol.94 (6), p.1098-1108

2018

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Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

Mitochondrial disorders and general anaesthesia: a case series and review

Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review

Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy

G471 Clinical characteristics, laboratory findings and management data in a single-center cohort of patients with heterozygous familial hypercholesterolemia

Enzyme replacement therapy infusion related reactions: a large single-centre review of children with lysosomal storage disorders

G388(P) Enzyme replacement therapy infusion related reactions: a large single-centre review of children with lysosomal storage disorders

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

Vitamin b6 and serotonin metabolism in neurological disorders of childhood

The impact of global warming on germination and seedling emergence in Alliaria petiolata a woodland species with dormancy loss dependent on low temperature

Seed dormancy cycling and the regulation of dormancy mechanisms to time germination in variable field environments

A laboratory simulation of Arabidopsis seed dormancy cycling provides new insight into its regulation by clock genes and the dormancy‐related genes DOG1, MFT, CIPK23 and PHYA

Dormancy cycling in Arabidopsis seeds is controlled by seasonally distinct hormone-signaling pathways

Predicted global warming scenarios impact on the mother plant to alter seed dormancy and germination behaviour in Arabidopsis

DNA damage checkpoint kinase ATM regulates germination and maintains genome stability in seeds

Temperature, light and nitrate sensing coordinate Arabidopsis seed dormancy cycling, resulting in winter and summer annual phenotypes

Seed dormancy is a dynamic state: variable responses to pre- and post-shedding environmental signals in seeds of contrasting Arabidopsis ecotypes

Environment sensing in spring‐dispersed seeds of a winter annual Arabidopsis influences the regulation of dormancy to align germination potential with seasonal changes

Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

Aquaporins influence seed dormancy and germination in response to stress

An improved method for the rapid isolation of RNA from Arabidopsis and seeds of other species high in polyphenols and polysaccharides

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

Trait analysis reveals DOG1 determines initial depth of seed dormancy, but not changes during dormancy cycling that result in seedling emergence timing

Changes in phenological events in response to a global warming scenario reveal greater adaptability of winter annual compared with summer annual arabidopsis ecotypes

Interaction of maternal environment and allelic differences in seed vigour genes determines seed performance in Brassica oleracea

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