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Author Details

Claudia B Catarino
Friedrich-Baur-Institut, Ludwig-Maximilians-Universitat Munchen
2006
44
23
PMIDPaper TitleJournal TitlePublished Year
34387631Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy-Response to Dr. Finsterer's Letter.J Neuroophthalmol2023
37158303Age-dependent retinal neuroaxonal degeneration in children and adolescents with Leber hereditary optic neuropathy under idebenone therapy.Eur J Neurol2023
35190400Childhood versus early-teenage onset Leber's hereditary optic neuropathy: visual prognosis and capacity for recovery.Br J Ophthalmol2023
35148383DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.Brain2022
35772801Brain Abnormalities in Patients with Germline Variants in <i>H3F3</i>: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors.AJNR Am J Neuroradiol2022
35945620Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study.Orphanet J Rare Dis2022
33465056Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.J Clin Invest2021
33541401Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy.Orphanet J Rare Dis2021
33706792Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber's Hereditary Optic Neuropathy mutation carriers: a prospective cohort study.Orphanet J Rare Dis2021
34853716Autosomal dominant optic atrophy: A novel treatment for <i>OPA1</i> splice defects using U1 snRNA adaption.Mol Ther Nucleic Acids2021
32991388Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy.J Neuroophthalmol2020
33268356Histone H3.3 beyond cancer: Germline mutations in <i>Histone 3 Family 3A and 3B</i> cause a previously unidentified neurodegenerative disorder in 46 patients.Sci Adv2020
32802957<i>LINS1</i>-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum.Neurol Genet2020
30687896Charles Bonnet syndrome in Leber's hereditary optic neuropathy.J Neurol2019
29260356Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.J Neurol2018
30025539Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?Orphanet J Rare Dis2018
29930110Analysis of shared heritability in common disorders of the brain.Science2018
27721048Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G&gt;A and m.14484T&gt;C of the mitochondrial DNA.Mitochondrion2017
28054128Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient.J Neurol2017
27589066Lateralization of cortical negative motor areas.Clin Neurophysiol2016
25797485MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy.Neurogenetics2015
26530508Mitochondrial DNA mutation 14487T&gt;C manifesting as Leber's hereditary optic neuropathy.J Neurol2015
24561070Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy.Neurobiol Dis2014
24014518Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.Brain2013
23824485The lifelong course of chronic epilepsy: the Chalfont experience.Brain2013
21920703Calbindin D28K expression in relation to granule cell dispersion, mossy fibre sprouting and memory impairment in hippocampal sclerosis: a surgical and post mortem series.Epilepsy Res2012
22750659Neuropathology of the blood-brain barrier and pharmaco-resistance in human epilepsy.Brain2012
22812626Investigation of hypoxia-inducible factor-1α in hippocampal sclerosis: a postmortem study.Epilepsia2012
22608064Variability of sclerosis along the longitudinal hippocampal axis in epilepsy: a post mortem study.Epilepsy Res2012
22342448Another cause of vaccine encephalopathy: a case of Angelman syndrome.Eur J Med Genet2012
22130039Paradoxical lateralization of non-invasive electroencephalographic ictal patterns in extra-temporal epilepsies.Epilepsy Res2012
21198557Investigation of widespread neocortical pathology associated with hippocampal sclerosis in epilepsy: a postmortem study.Epilepsia2011
21858020Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions.PLoS One2011
21903728Neurofibrillary tangle pathology and Braak staging in chronic epilepsy in relation to traumatic brain injury and hippocampal sclerosis: a post-mortem study.Brain2011
21601427The long-term retention of zonisamide in a large cohort of people with epilepsy at a tertiary referral centre.Epilepsy Res2011
21635232Genomic microdeletions associated with epilepsy: not a contraindication to resective surgery.Epilepsia2011
21719429Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology.Brain2011
21463276Neuroimaging and neuropathology of Dravet syndrome.Epilepsia2011
19855097CYP2C9*1B promoter polymorphisms, in linkage with CYP2C19*2, affect phenytoin autoinduction of clearance and maintenance dose.J Pharmacol Exp Ther2010
20522523Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.Brain2010
20647531A fitful night's sleep.Pract Neurol2010
20398883Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes.Am J Hum Genet2010
19710404Bilateral reorganization of the dentate gyrus in hippocampal sclerosis: a postmortem study.Neurology2009
16361587Insulin-like growth factor I promoter polymorphism, risk of stroke, and survival after stroke: the Rotterdam study.J Neurol Neurosurg Psychiatry2006
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Collaborators

Sanjay M Sisodiya
UCL Institute of Neurology
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Hanoi Medical University Hospital
Co-authored papers 11
Lillian Martinian
Universidad de Murcia
Co-authored papers 11
Dalia Kasperaviciute
Genomics England Ltd.
Co-authored papers 6
Chantal Depondt
Hopital Universitaire de Bruxelles - Hopital Erasme
Co-authored papers 5
Josemir W Sander
West China Hospital of Sichuan University
Co-authored papers 5
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Hospital Israelita Albert Einstein
Co-authored papers 5
David B Goldstein
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Co-authored papers 4
Reetta K??lvi??inen
Kuopio University Hospital, University of Eastern Finland
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Co-authored papers 4
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University of North Carolina at Chapel Hill.
Co-authored papers 4
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Universitat Rostock
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FutureNeuro SFI Research Centre, The Royal College of Surgeons in Ireland
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Rodney A Radtke
Duke University Medical Center
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G??nter Kr??mer
University Hospital
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John S Duncan
UCL Queen Square Institute of Neurology, University College London
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Dominik Zumsteg
University of Toronto, Toronto Western Hospital
Co-authored papers 3
Hakon Hakonarson
The Center for Applied Genomics, Children's Hospital of Philadelphia
Co-authored papers 3
Nicholas W Wood
UCL Queen Square Institute of Neurology
Co-authored papers 3
Anne-Mari Kantanen
Kuopio University Hospital, University of Eastern Finland
Co-authored papers 3
Tim M Strom
Co-authored papers 3
Massimo Pandolfo
Universite Libre de Bruxelles (ULB)
Co-authored papers 3
Lisa M Clayton
University College London Queen Square Institute of Neurology
Co-authored papers 3
J??rg Hansen
University Children's Hospital
Co-authored papers 3
Bernhard J Steinhoff
University of Freiburg
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Saskia Biskup
Center for Genomics and Transcriptomics (CeGaT)
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Release 1.2