C. Hertzberg

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Aliases
C Hertzberg, C. Hertzberg, Christoph Hertzberg
Publication record
79 papers · 3,720 citations · H-index 30

PAPERS

Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months of age (PROTECT), a two-arm, randomized, observer-blind, controlled phase IIb national multicentre clinical trial: study protocol
20255 citationsauthor #4
A multicenter, matched case–control analysis comparing burden of illness among patients with tuberous sclerosis complex related epilepsy, generalized idiopathic epilepsy, and focal epilepsy in Germany
20247 citationsauthor #2
Vigabatrin‐associated brain magnetic resonance imaging abnormalities and clinical symptoms in infants with tuberous sclerosis complex
20244 citationsauthor #23
Molecular EPISTOP, a comprehensive multi-omic analysis of blood from Tuberous Sclerosis Complex infants age birth to two years
202310 citationsauthor #8
WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk
202318 citationsauthor #9
Successful Prenatal Treatment of Cardiac Rhabdomyoma in a Fetus with Tuberous Sclerosis
202325 citationsauthor #6
Real‐world data on cannabidiol treatment of various epilepsy subtypes: A retrospective, multicenter study
202338 citationsauthor #8
Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex
202220 citationsauthor #16
miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex
202211 citationsauthor #6
Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study
202120 citationsauthor #5
Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes
202133 citationsauthor #17
Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry
202130 citationsauthor #14
Prescription patterns of antiseizure drugs in tuberous sclerosis complex (TSC)-associated epilepsy: a multicenter cohort study from Germany and review of the literature
202116 citationsauthor #8
Health-related quality of life in children and adolescents with tuberous sclerosis complex and their caregivers: A multicentre cohort study from Germany.
202118 citationsauthor #4
TuberOus SClerosis registry to increAse disease awareness (TOSCA) Post-Authorisation Safety Study of Everolimus in Patients With Tuberous Sclerosis Complex
202117 citationsauthor #15
Results of quantitative EEG analysis are associated with autism spectrum disorder and development abnormalities in infants with tuberous sclerosis complex
20218 citationsauthor #15
Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature
202117 citationsauthor #8
Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA)
202130 citationsauthor #14
Quality of life and its predictors in adults with tuberous sclerosis complex (TSC): a multicentre cohort study from Germany
202122 citationsauthor #8
Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients’ Perspectives
202117 citationsauthor #13
Prediction of Neurodevelopment in Infants With Tuberous Sclerosis Complex Using Early EEG Characteristics
202028 citationsauthor #18
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C
202036 citationsauthor #78
Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial
2020212 citationsauthor #18
Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas
202043 citationsauthor #14
Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study
202039 citationsauthor #15
TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study
202075 citationsauthor #8
Vorinostat in the acute neuroinflammatory form of X‐linked adrenoleukodystrophy
202018 citationsauthor #10
Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project
20200 citationsauthor #12
Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex?
202033 citationsauthor #15
A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC)
2020101 citationsauthor #3
Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype
202027 citationsauthor #13
Anticonvulsant Agents: Everolimus
20201 citationsauthor #1
Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project
202030 citationsauthor #12
Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex
201937 citationsauthor #14
Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study
201963 citationsauthor #16
First Results of the EPISTOP Study
20191 citationsauthor #2
Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study
201926 citationsauthor #13
The TOSCA Registry for Tuberous Sclerosis—Lessons Learnt for Future Registry Development in Rare and Complex Diseases
20195 citationsauthor #14
Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry
201913 citationsauthor #14
Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness
201878 citationsauthor #14
TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study
2018134 citationsauthor #13
Tuberous Sclerosis Complex (TSC) - Associated Epilepsy: Final Results from the TOSCA Study
20180 citationsauthor #14
Clinical and Imaging Characteristics of Subependymal Giant Cell Astrocytoma in Patients with Tuberous Sclerosis Complex included in TOSCA – TuberOus SClerosis Registry to IncreAse Disease Awareness
20180 citationsauthor #14
Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study
2018176 citationsauthor #14
Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations.
2018171 citationsauthor #7
TUBEROUS SCLEROSIS COMPLEX-ASSOCIATED NEUROPSYCHIATRIC DISORDERS (TAND): FURTHER RESULTS FROM THE TOSCA NATURAL HISTORY STUDY
20171 citationsauthor #13
TuberOus SClerosis registry to increase disease Awareness (TOSCA) – baseline data on 2093 patients
2017220 citationsauthor #14
QUALITY OF LIFE AND BURDEN OF DISEASE IN TUBEROUS SCLEROSIS COMPLEX (TSC): FINDINGS FROM TOSCA RESEARCH PROJECT
20173 citationsauthor #13
Predictors of Efficacy in Patients with Adjunctive Everolimus Therapy for Treatment-Resistant Seizures Associated with Tuberous Sclerosis Complex
20170 citationsauthor #3
The Role of mTOR Inhibitors in the Treatment of Patients with Tuberous Sclerosis Complex: Evidence-based and Expert Opinions
201674 citationsauthor #6
Inflammatory Characteristics of Monocytes from Pediatric Patients with Tuberous Sclerosis
20152 citationsauthor #10
Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene
201530 citationsauthor #4
TSC-ASSOCIATED NEUROPSYCHIATRIC DISORDERS (TAND): BASELINE DATA FROM THE TOSCA INTERNATIONAL DISEASE REGISTRY
20151 citationsauthor #13
Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene
20152 citationsauthor #4
Effects of Rapamycin on Monocytes from Pediatric Patients with Tuberous Sclerosis
20140 citationsauthor #7
EPISTOP – INTERNATIONAL, LONG-TERM, PROSPECTIVE STUDY EVALUATING CLINICAL AND MOLECULAR BIOMARKERS OF EPILEPTOGENESIS IN A GENETIC MODEL OF EPILEPSY – TUBEROUS SCLEROSIS COMPLEX
20143 citationsauthor #5
Epilepsy in Aicardi-Goutières syndrome.
201420 citationsauthor #7
Lymphangioleiomyomatosis in TOSCA - TuberOus SClerosis registry to increAse disease awareness
20141 citationsauthor #9
TOSCA – first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex
201472 citationsauthor #6
Does the mTOR inhibitor everolimus influence the course of epilepsy in children with tuberous sclerosis complex
20130 citationsauthor #6
Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease.
201251 citationsauthor #4
An opel-label, multi-center, expanded access study of RAD001 (Everolimus) in patients with TSC SEGA
20120 citationsauthor #1
Congenital Ichthyosis in Severe Type II Gaucher Disease with a Homozygous Null Mutation
201112 citationsauthor #6
Deep sequencing reveals 50 novel genes for recessive cognitive disorders
2011948 citationsauthor #33
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots
201160 citationsauthor #15
INVITED SPEAKERS: I-18: IDENTIFICATION OF OVER 50 NOVEL GENES INVOLVED IN ARID BY HOMOZYGOUSITY MAPPING AND NEXT GENERATION SEQUENCING
20110 citationsauthor #30
Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings.
201154 citationsauthor #3
Intact recovery from early ‘acquired methylmalonic aciduria’ secondary to maternal atrophic gastritis
20112 citationsauthor #2
Four unrelated patients with lubs X‐linked mental retardation syndrome and different Xq28 duplications
201035 citationsauthor #11
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
2010215 citationsauthor #3
Lupus erythematosus and Aicardi-Goutières Syndrome: a continuum of immune mediated diseases
20100 citationsauthor #6
The clinical spectrum of Aicardi-Goutières syndrome: Five new cases with distinct phenotypes highlighting a complex pathophysiology
20080 citationsauthor #3
Location and type of mutation in the LIS1 gene do not predict phenotypic severity
200748 citationsauthor #12
Partial trisomy 5p and deletion of the 1p region causes severe psychomotor delay, refractory epilepsy and cleft lip and palate in a 10-year old girl - a long way to diagnosis
20060 citationsauthor #4
Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively.
2005141 citationsauthor #7
Alstrom syndrome – is there a mitochondrial pathogenesis? A case report of two affected sisters
20050 citationsauthor #4
An electron microscopic study of erythropoiesis in fetal and neonatal rabbits.
19816 citationsauthor #1
An electron microscopic study of erythrophagocytosis in the fetal and neonatal rabbit.
19806 citationsauthor #1
Iron-containing cytoplasmic inclusions in mouse bone marrow macrophages.
19803 citationsauthor #1

TIMELINE

1980 9 citations

1981 6 citations

2005 141 citations

2006 0 citations

2007 48 citations

2008 0 citations

2010 250 citations

2011 1,076 citations

2012 51 citations

2013 0 citations

2014 96 citations

2015 35 citations

2016 74 citations

2017 224 citations

2018 559 citations

2019 145 citations

2020 643 citations

2021 228 citations

2022 31 citations

2023 91 citations

2024 11 citations

2025 5 citations

C. Hertzberg

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