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List of works by Claudia B. Catarino

A fitful night's sleep

scientific article published in August 2010

Analysis of shared heritability in common disorders of the brain

scientific article published on 21 June 2018

Another cause of vaccine encephalopathy: a case of Angelman syndrome

scientific article published on 25 January 2012

Bilateral reorganization of the dentate gyrus in hippocampal sclerosis: a postmortem study

scientific article published on 26 August 2009

Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.

scientific article published on 19 December 2017

CYP2C9*1B promoter polymorphisms, in linkage with CYP2C19*2, affect phenytoin autoinduction of clearance and maintenance dose

scientific article

Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA.

scientific article published on 6 October 2016

Charles Bonnet syndrome in Leber's hereditary optic neuropathy

scientific article published on 28 January 2019

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

scientific article published on 19 July 2018

Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study

scientific journal article

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

scientific article

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

scientific article published on 06 September 2013

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

scientific article published on 19 February 2014

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

scientific article published on 4 January 2017

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

scientific article

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

scientific article published on 19 July 2012

Investigation of widespread neocortical pathology associated with hippocampal sclerosis in epilepsy: A postmortem study

scientific article published on 27 December 2010

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

scientific article published on 04 August 2020

Lateralization of cortical negative motor areas

scientific article published on 10 August 2016

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

scientific article published on 24 March 2015

Mitochondrial DNA mutation 14487T>C manifesting as Leber’s hereditary optic neuropathy

scientific article published on 03 November 2015

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

scientific article

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

scientific article published on 28 June 2012

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

scientific article published on 30 November 2011

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

scientific article

The lifelong course of chronic epilepsy: the Chalfont experience

scientific article published on 3 July 2013

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

scientific article published on 20 May 2011

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

scientific article (publication date: 2011)

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

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

scientific article

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