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DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

Brain (London, England : 1878), 2022-06, Vol.145 (5), p.1624-1631

2022

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Neuropathology of the blood―brain barrier and pharmaco-resistance in human epilepsy

Brain (London, England : 1878), 2012-10, Vol.135 (Pt 10), p.3115-3133

2012

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Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study

Orphanet journal of rare diseases, 2022-08, Vol.17 (1), p.1-310, Article 310

2022

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Charles Bonnet syndrome in Leber’s hereditary optic neuropathy

Journal of neurology, 2019-03, Vol.266 (3), p.777-779

2019

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Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber's Hereditary Optic Neuropathy mutation carriers: a prospective cohort study

Orphanet journal of rare diseases, 2021-03, Vol.16 (1), p.127-127, Article 127

2021

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Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption

Molecular therapy. Nucleic acids, 2021-12, Vol.26, p.1186-1197

2021

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Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy

Orphanet journal of rare diseases, 2021-02, Vol.16 (1), p.64-64, Article 64

2021

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Neurofibrillary tangle pathology and Braak staging in chronic epilepsy in relation to traumatic brain injury and hippocampal sclerosis: a post-mortem study

Brain (London, England : 1878), 2011-10, Vol.134 (10), p.2969-2981

2011

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Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy

Neurobiology of disease, 2014-07, Vol.67, p.88-96

2014

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Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

Brain (London, England : 1878), 2011-10, Vol.134 (10), p.2982-3010

2011

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Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment

Journal of neurology, 2018-02, Vol.265 (2), p.388-393

2018

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Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient

Journal of neurology, 2017-03, Vol.264 (3), p.578-582

2017

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Variability of sclerosis along the longitudinal hippocampal axis in epilepsy: A post mortem study

Epilepsy research, 2012-11, Vol.102 (1), p.45-59

2012

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Investigation of hypoxia-inducible factor-1α in hippocampal sclerosis: A postmortem study

Epilepsia (Copenhagen), 2012-08, Vol.53 (8), p.1349-1359

2012

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Paradoxical lateralization of non-invasive electroencephalographic ictal patterns in extra-temporal epilepsies

Epilepsy research, 2012-03, Vol.99 (1), p.147-155

2012

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MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy

Neurogenetics, 2015-10, Vol.16 (4), p.319-323

2015

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The lifelong course of chronic epilepsy: the Chalfont experience

Brain (London, England : 1878), 2013-10, Vol.136 (10), p.3187-3199

2013

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Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions

PloS one, 2011-08, Vol.6 (8), p.e23182

2011

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Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy

Cell reports. Medicine, 2024-02, Vol.5 (2), p.101383-101383, Article 101383

2024

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LINS1 -associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum

Neurology. Genetics, 2020-10, Vol.6 (5), p.e500-e500

2020

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The long-term retention of zonisamide in a large cohort of people with epilepsy at a tertiary referral centre

Epilepsy research, 2011-09, Vol.96 (1), p.39-44

2011

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Genomic microdeletions associated with epilepsy: Not a contraindication to resective surgery

Epilepsia (Copenhagen), 2011-08, Vol.52 (8), p.1388-1392

2011

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Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset

Ophthalmology (Rochester, Minn.), 2021-05, Vol.128 (5), p.649-660

2021

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Use of Idebenone for the Treatment of Leber’s Hereditary Optic Neuropathy

Journal of inborn errors of metabolism and screening, 2017-09, Vol.5

2017

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DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

Neuropathology of the blood―brain barrier and pharmaco-resistance in human epilepsy

Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study

Charles Bonnet syndrome in Leber’s hereditary optic neuropathy

Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber's Hereditary Optic Neuropathy mutation carriers: a prospective cohort study

Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption

Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy

Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy

Neurofibrillary tangle pathology and Braak staging in chronic epilepsy in relation to traumatic brain injury and hippocampal sclerosis: a post-mortem study

Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy

Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment

Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient

Variability of sclerosis along the longitudinal hippocampal axis in epilepsy: A post mortem study

Investigation of hypoxia-inducible factor-1α in hippocampal sclerosis: A postmortem study

Paradoxical lateralization of non-invasive electroencephalographic ictal patterns in extra-temporal epilepsies

MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy

The lifelong course of chronic epilepsy: the Chalfont experience

Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions

Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy

LINS1 -associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum

The long-term retention of zonisamide in a large cohort of people with epilepsy at a tertiary referral centre

Genomic microdeletions associated with epilepsy: Not a contraindication to resective surgery

Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset

Use of Idebenone for the Treatment of Leber’s Hereditary Optic Neuropathy

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