Dr. med. Christoph Hertzberg

seit 2005
Chefarzt im Zentrum für Sozialpädiatrie und Neuropädiatrie (DBZ), Vivantes Klinikum Neukölln, Berlin

seit 2005
Wissenschaftliches Mitglied der Tuberöse Sklerose Deutschland e.V. (TSD) im Vereinsvorstand
Aufgaben: Kollaborative Organisation des TSC Zentrums in Berlin, Erweiterung des deutschen Netzwerk des TSC Zentrums, nationale und internationale TSC-Aktivitäten

2007
Abschluss in pädiatrischer Neurologie

2004 – 2005
Nach dem Zusammenschluss des Altonaer Kinderkrankenhaus und des Universitätsklinikums Hamburg-Eppendorf: Berater für Neuropädiatrie beider Institutionen

2000 – 2004
Leiter des Bereichs Neuropädiatrie, Altonaer Kinderkrankenhauses, Hamburg

2000
Erlangung des Zertifikats "Epileptologie plus" der Deutschen Gesellschaft für Epileptologie

1997 – 2000
Berater für Neuropädiatrie und Leiter des Sozialpädiatrischen Zentrums in der Kinderklinik Köln

1997
Erlangung des EEG-Zertifikats der Deutschen Gesellschaft für Klinische Neurophysiologie und Funktionelle Bildgebung

1997
Abschluss in Pädiatrie

1992 – 1997
Assistenzarzt und wissenschaftlicher Mitarbeiter, Universitätsklinikum Hamburg-Eppendorf

1992
Dissertation zum Thema: Oligopeptide diet influence on the spectrum of gastrointestinal hormones

1985 – 1992
Pädiatrische Ausbildung, Altonaer Kinderkrankenhaus, Hamburg

1985
Approbation als Arzt

1979 – 1985
Studium Medizin, Universität Hamburg












 

Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial. 
Kotulska K, Kwiatkowski DJ, Curatolo P, Weschke B, Riney K, Jansen F, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Sijko K, Głowacka-Walas J, Borkowska J, Sadowski K, Domańska-Pakieła D, Moavero R, Hertzberg C, Hulshof H, Scholl T, Benova B, Aronica E, de Ridder J, Lagae L, Jóźwiak S; EPISTOP Investigators. Ann Neurol. 2021 Feb;89(2):304-314. doi: 10.1002/ana.25956. Epub 2020 Nov 27. PMID: 33180985 Free PMC article. Clinical Trial. 

Management of epilepsy associated with tuberous sclerosis complex: Updated clinical recommendations. 
Curatolo P, Nabbout R, Lagae L, Aronica E, Ferreira JC, Feucht M, Hertzberg C, Jansen AC, Jansen F, Kotulska K, Moavero R, O'Callaghan F, Papavasiliou A, Tzadok M, Jóźwiak S. Eur J Paediatr Neurol. 2018 Sep;22(5):738-748. doi: 10.1016/j.ejpn.2018.05.006. Epub 2018 May 24. PMID: 29880258 Review. 
 
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 
Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Püttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH. Nature. 2011 Sep 21;478(7367):57-63. doi: 10.1038/nature10423. PMID: 21937992 

Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. 
Wolf NI, Vanderver A, van Spaendonk RM, Schiffmann R, Brais B, Bugiani M, Sistermans E, Catsman-Berrevoets C, Kros JM, Pinto PS, Pohl D, Tirupathi S, Strømme P, de Grauw T, Fribourg S, Demos M, Pizzino A, Naidu S, Guerrero K, van der Knaap MS, Bernard G; 4H Research Group. Neurology. 2014 Nov 18;83(21):1898-905. doi: 10.1212/WNL.0000000000001002. Epub 2014 Oct 22. PMID: 25339210 Free PMC article. 
  
Vorinostat in the acute neuroinflammatory form of X-linked adrenoleukodystrophy. 
Zierfuss B, Weinhofer I, Kühl JS, Köhler W, Bley A, Zauner K, Binder J, Martinović K, Seiser C, Hertzberg C, Kemp S, Egger G, Leitner G, Bauer J, Wiesinger C, Kunze M, Forss-Petter S, Berger J. Ann Clin Transl Neurol. 2020 May;7(5):639-652. doi: 10.1002/acn3.51015. Epub 2020 May 2. PMID: 32359032 Free PMC article. 
 
A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC). 
Zöllner JP, Franz DN, Hertzberg C, Nabbout R, Rosenow F, Sauter M, Schubert-Bast S, Wiemer-Kruel A, Strzelczyk A. Orphanet J Rare Dis. 2020 Jan 21;15(1):23. doi: 10.1186/s13023-019-1258-3. PMID: 31964424 Free PMC article. Review. 
 
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C. 
Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sébire G, Lourenço CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, Özkınay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos LK, Stevens CA, Synofzik M, Sztriha L, Tibussek D, Timmann D, Tonduti D, van de Warrenburg BP, Vázquez-López M, Venkateswaran S, Wasling P, Wassmer E, Webster RI, Wiegand G, Yoon G, Rotteveel J, Schiffmann R, van der Knaap MS, Vanderver A, Martos-Moreno GÁ, Polychronakos C, Wolf NI, Bernard G. J Clin Endocrinol Metab. 2021 Jan 23;106(2):e660-e674. doi: 10.1210/clinem/dgaa700. PMID: 33005949 Free PMC article. 
 
Early epileptiform EEG activity in infants with tuberous sclerosis complex predicts epilepsy and neurodevelopmental outcomes. 
De Ridder J, Verhelle B, Vervisch J, Lemmens K, Kotulska K, Moavero R, Curatolo P, Weschke B, Riney K, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Domanska-Pakieła D, Kaczorowska-Frontczak M, Hertzberg C, Ferrier CH, Samueli S, Benova B, Aronica E, Kwiatkowski DJ, Jansen FE, Jóźwiak S, Lagae L; EPISTOP consortium. Epilepsia. 2021 May;62(5):1208-1219. doi: 10.1111/epi.16892. Epub 2021 Mar 29. PMID: 33778971 Clinical Trial. 

Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature. 
Zöllner JP, Grau J, Rosenow F, Sauter M, Knuf M, Kurlemann G, Mayer T, Hertzberg C, Bertsche A, Immisch I, Klein KM, Knake S, Marquard K, Meyer S, Noda AH, von Podewils F, Schäfer H, Thiels C, Willems LM, Zukunft B, Schubert-Bast S, Strzelczyk A. Orphanet J Rare Dis. 2021 Jun 2;16(1):250. doi: 10.1186/s13023-021-01838-w. PMID: 34078440 Free PMC article. Review. 

Prescription patterns of antiseizure drugs in tuberous sclerosis complex (TSC)-associated epilepsy: a multicenter cohort study from Germany and review of the literature. 
Strzelczyk A, Grau J, Bast T, Bertsche A, Bettendorf U, Hahn A, Hartmann H, Hertzberg C, Hornemann F, Immisch I, Jacobs J, Klotz KA, Kluger G, Knake S, Knuf M, Kurlemann G, Marquard K, Mayer T, Meyer S, Muhle H, Müller-Schlüter K, von Podewils F, Rosenow F, Ruf S, Sauter M, Schäfer H, Schlump JU, Schubert-Bast S, Syrbe S, Thiels C, Trollmann R, Wiemer-Kruel A, Wilken B, Zukunft B, Zöllner JP. Expert Rev Clin Pharmacol. 2021 Jun;14(6):749-760. doi: 10.1080/17512433.2021.1911643. Epub 2021 May 31. PMID: 33792454 Review. 

Epilepsy in Aicardi-Goutières syndrome. 
Ramantani G, Maillard LG, Bast T, Husain RA, Niggemann P, Kohlhase J, Hertzberg C, Ungerath K, Innes MA, Walkenhorst H, Bevot A, von Stülpnagel C, Thomas K, Niemann F, Ergun MA, Tacke U, Häusler M, Ikonomidou C, Korinthenberg R, Lee-Kirsch MA. Eur J Paediatr Neurol. 2014 Jan;18(1):30-7. doi: 10.1016/j.ejpn.2013.07.005. Epub 2013 Sep 5. PMID: 24011626 

Management of epilepsy associated with tuberous sclerosis complex (TSC): clinical recommendations. 
Curatolo P, Jóźwiak S, Nabbout R; TSC Consensus Meeting for SEGA and Epilepsy Management. Eur J Paediatr Neurol. 2012 Nov;16(6):582-6. doi: 10.1016/j.ejpn.2012.05.004. Epub 2012 Jun 12. PMID: 22695035 Review. 

Is autism driven by epilepsy in infants with Tuberous Sclerosis Complex? 
Moavero R, Kotulska K, Lagae L, Benvenuto A, Emberti Gialloreti L, Weschke B, Riney K, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Borkowska J, Sadowski K, Hertzberg C, Van Schooneveld MM, Samueli S, Maulisovà A, Aronica E, Kwiatkowski DJ, Jansen FE, Jozwiak S, Curatolo P; EPISTOP Consortium. Ann Clin Transl Neurol. 2020 Aug;7(8):1371-1381. doi: 10.1002/acn3.51128. Epub 2020 Jul 23. PMID: 32705817 Free PMC article. Clinical Trial. 

Efficacy, Retention and Tolerability of Everolimus in Patients with Tuberous Sclerosis Complex: A Survey-Based Study on Patients' Perspectives. 
Willems LM, Rosenow F, Schubert-Bast S, Kurlemann G, Zöllner JP, Bast T, Bertsche A, Bettendorf U, Ebrahimi-Fakhari D, Grau J, Hahn A, Hartmann H, Hertzberg C, Hornemann F, Immisch I, Jacobs J, Klein KM, Klotz KA, Kluger G, Knake S, Knuf M, Marquard K, Mayer T, Meyer S, Muhle H, Müller-Schlüter K, von Podewils F, Ruf S, Sauter M, Schäfer H, Schlump JU, Syrbe S, Thiels C, Trollmann R, Wiemer-Kruel A, Wilken B, Zukunft B, Strzelczyk A. CNS Drugs. 2021 Oct;35(10):1107-1122. doi: 10.1007/s40263-021-00839-4. Epub 2021 Jul 17. PMID: 34275102 Free PMC article. 

Rare manifestations and malignancies in tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increAse disease awareness (TOSCA). 
Sauter M, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen A, Kingswood JC; TOSCA investigators. Orphanet J Rare Dis. 2021 Jul 6;16(1):301. doi: 10.1186/s13023-021-01917-y. PMID: 34229737 Free PMC article. 

Quality of life and its predictors in adults with tuberous sclerosis complex (TSC): a multicentre cohort study from Germany. 
Zöllner JP, Conradi N, Sauter M, Knuf M, Knake S, Kurlemann G, Mayer T, Hertzberg C, Bertsche A, Immisch I, Klein KM, Marquard K, Meyer S, Noda AH, von Podewils F, Schäfer H, Thiels C, Zukunft B, Schubert-Bast S, Grau J, Willems LM, Rosenow F, Reese JP, Strzelczyk A. Neurol Res Pract. 2021 Jun 28;3(1):35. doi: 10.1186/s42466-021-00130-3. PMID: 34176514 Free PMC article. 

Historical Patterns of Diagnosis, Treatments, and Outcome of Epilepsy Associated With Tuberous Sclerosis Complex: Results From TOSCA Registry. 
Nabbout R, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, Beaure d'Augères G, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, O'Callaghan F, Qin J, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC, Kingswood JC. Front Neurol. 2021 Sep 8;12:697467. doi: 10.3389/fneur.2021.697467. eCollection 2021. PMID: 34566842 Free PMC article. 

TuberOus SClerosis registry to increAse disease awareness (TOSCA) Post-Authorisation Safety Study of Everolimus in Patients With Tuberous Sclerosis Complex. 
Kingswood JC, Belousova E, Benedik MP, Budde K, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC; TOSCA Consortium and TOSCA Investigators. Front Neurol. 2021 Mar 23;12:630378. doi: 10.3389/fneur.2021.630378. eCollection 2021. PMID: 33833726 Free PMC article. 

Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study. 
Grau J, Zöllner JP, Schubert-Bast S, Kurlemann G, Hertzberg C, Wiemer-Kruel A, Bast T, Bertsche A, Bettendorf U, Fiedler B, Hahn A, Hartmann H, Hornemann F, Immisch I, Jacobs J, Kieslich M, Klein KM, Klotz KA, Kluger G, Knuf M, Mayer T, Marquard K, Meyer S, Muhle H, Müller-Schlüter K, Noda AH, Ruf S, Sauter M, Schlump JU, Syrbe S, Thiels C, Trollmann R, Wilken B, Willems LM, Rosenow F, Strzelczyk A. Orphanet J Rare Dis. 2021 Jun 21;16(1):282. doi: 10.1186/s13023-021-01899-x. PMID: 34154622 Free PMC article. 

Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study. 
Nabbout R, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen A, Kingswood JC; TOSCA Consortium and TOSCA Investigators. Epilepsia Open. 2018 Dec 21;4(1):73-84. doi: 10.1002/epi4.12286. eCollection 2019 Mar. PMID: 30868117 Free PMC article. 

Health-related quality of life in children and adolescents with tuberous sclerosis complex and their caregivers: A multicentre cohort study from Germany. 
Willems LM, Schubert-Bast S, Grau J, Hertzberg C, Kurlemann G, Wiemer-Kruel A, Bast T, Bertsche A, Bettendorf U, Fiedler B, Hahn A, Hartmann H, Hornemann F, Immisch I, Jacobs J, Kieslich M, Klein KM, Klotz KA, Kluger G, Knuf M, Mayer T, Marquard K, Meyer S, Muhle H, Müller-Schlüter K, Noda AH, Ruf S, Sauter M, Schlump JU, Syrbe S, Thiels C, Trollmann R, Wilken B, Zöllner JP, Rosenow F, Strzelczyk A. Eur J Paediatr Neurol. 2021 Nov;35:111-122. doi: 10.1016/j.ejpn.2021.10.003. Epub 2021 Oct 7. PMID: 34673401 

Prediction of Neurodevelopment in Infants With Tuberous Sclerosis Complex Using Early EEG Characteristics. 
De Ridder J, Lavanga M, Verhelle B, Vervisch J, Lemmens K, Kotulska K, Moavero R, Curatolo P, Weschke B, Riney K, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Domanska-Pakieła D, Kaczorowska-Frontczak M, Hertzberg C, Ferrier CH, Samueli S, Benova B, Aronica E, Kwiatkowski DJ, Jansen FE, Jóźwiak S, Van Huffel S, Lagae L. Front Neurol. 2020 Oct 16;11:582891. doi: 10.3389/fneur.2020.582891. eCollection 2020. PMID: 33178126 Free PMC article. 

The Role of mTOR Inhibitors in the Treatment of Patients with Tuberous Sclerosis Complex: Evidence-based and Expert Opinions. 
Curatolo P, Bjørnvold M, Dill PE, Ferreira JC, Feucht M, Hertzberg C, Jansen A, Jóźwiak S, Kingswood JC, Kotulska K, Macaya A, Moavero R, Nabbout R, Zonnenberg BA. Drugs. 2016 Apr;76(5):551-65. doi: 10.1007/s40265-016-0552-9. PMID: 26927950 Review. 

Burden of Illness and Quality of Life in Tuberous Sclerosis Complex: Findings From the TOSCA Study. 
Jansen AC, Vanclooster S, de Vries PJ, Fladrowski C, Beaure d'Augères G, Carter T, Belousova E, Benedik MP, Cottin V, Curatolo P, Dahlin M, D'Amato L, Ferreira JC, Feucht M, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Kingswood JC. Front Neurol. 2020 Aug 28;11:904. doi: 10.3389/fneur.2020.00904. eCollection 2020. PMID: 32982929 Free PMC article. 

Clinical Characteristics of Subependymal Giant Cell Astrocytoma in Tuberous Sclerosis Complex. 
Jansen AC, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Kingswood JC. Front Neurol. 2019 Jul 3;10:705. doi: 10.3389/fneur.2019.00705. eCollection 2019. PMID: 31333563 Free PMC article. 

TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study. 
Ogórek B, Hamieh L, Hulshof HM, Lasseter K, Klonowska K, Kuijf H, Moavero R, Hertzberg C, Weschke B, Riney K, Feucht M, Scholl T, Krsek P, Nabbout R, Jansen AC, Benova B, Aronica E, Lagae L, Curatolo P, Borkowska J, Sadowski K, Domańska-Pakieła D, Janson S, Kozlowski P, Urbanska M, Jaworski J, Jozwiak S, Jansen FE, Kotulska K; EPISTOP Consortium members, Kwiatkowski DJ. Genet Med. 2020 Sep;22(9):1489-1497. doi: 10.1038/s41436-020-0823-4. Epub 2020 May 28. PMID: 32461669 

TSC-associated neuropsychiatric disorders (TAND): findings from the TOSCA natural history study. 
de Vries PJ, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, d'Augères GB, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Kingswood JC, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC; TOSCA Consortium and TOSCA Investigators. Orphanet J Rare Dis. 2018 Sep 10;13(1):157. doi: 10.1186/s13023-018-0901-8. PMID: 30201051 Free PMC article. 

Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: an observational cohort study. 
Patterson MC, Mengel E, Vanier MT, Schwierin B, Muller A, Cornelisse P, Pineda M; NPC Registry investigators. Orphanet J Rare Dis. 2015 May 28;10:65. doi: 10.1186/s13023-015-0284-z. PMID: 26017010 Free PMC article. 

Natural clusters of tuberous sclerosis complex (TSC)-associated neuropsychiatric disorders (TAND): new findings from the TOSCA TAND research project. 
de Vries PJ, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, D'Amato L, Beure d'Augères G, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Kingswood JC, Jansen AC; TOSCA Consortium and TOSCA Investigators. J Neurodev Disord. 2020 Sep 1;12(1):24. doi: 10.1186/s11689-020-09327-0. PMID: 32873244 Free PMC article. 

Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): New Findings on Age, Sex, and Genotype in Relation to Intellectual Phenotype. 
de Vries PJ, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, Beaure d'Augères G, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Kingswood JC, Jansen AC; TOSCA Investigators. Front Neurol. 2020 Jul 7;11:603. doi: 10.3389/fneur.2020.00603. eCollection 2020. PMID: 32733359 Free PMC article. 

Renal Manifestations of Tuberous Sclerosis Complex: Key Findings From the Final Analysis of the TOSCA Study Focussing Mainly on Renal Angiomyolipomas. 
Kingswood JC, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, Beaure d'Augères G, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC, Sauter M. Front Neurol. 2020 Sep 16;11:972. doi: 10.3389/fneur.2020.00972. eCollection 2020. PMID: 33041968 Free PMC article. 

The TOSCA Registry for Tuberous Sclerosis-Lessons Learnt for Future Registry Development in Rare and Complex Diseases. 
Marques R, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, Beaure d'Augères G, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jansen AC, Jozwiak S, Kingswood JC, Lawson JA, Macaya A, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Nabbout R. Front Neurol. 2019 Nov 13;10:1182. doi: 10.3389/fneur.2019.01182. eCollection 2019. PMID: 31798515 Free PMC article. 

Treatment Patterns and Use of Resources in Patients With Tuberous Sclerosis Complex: Insights From the TOSCA Registry. 
Marques R, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D'Amato L, Beaure d'Augères G, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Kingswood JC, Jansen AC. Front Neurol. 2019 Oct 25;10:1144. doi: 10.3389/fneur.2019.01144. eCollection 2019. PMID: 31708865 Free PMC article. 

Newly Diagnosed and Growing Subependymal Giant Cell Astrocytoma in Adults With Tuberous Sclerosis Complex: Results From the International TOSCA Study. 
Jansen AC, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, D'Amato L, Beaure d'Augères G, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Kingswood JC. Front Neurol. 2019 Aug 2;10:821. doi: 10.3389/fneur.2019.00821. eCollection 2019. PMID: 31428037 Free PMC article. 

Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study. 
Moavero R, Benvenuto A, Emberti Gialloreti L, Siracusano M, Kotulska K, Weschke B, Riney K, Jansen FE, Feucht M, Krsek P, Nabbout R, Jansen AC, Wojdan K, Borkowska J, Sadowski K, Hertzberg C, Hulshof H, Samueli S, Benova B, Aronica E, Kwiatkowski DJ, Lagae L, Jozwiak S, Curatolo P. J Clin Med. 2019 Jun 3;8(6):788. doi: 10.3390/jcm8060788. PMID: 31163675 Free PMC article. 

Renal angiomyolipoma in patients with tuberous sclerosis complex: findings from the TuberOus SClerosis registry to increase disease Awareness. 
Kingswood JC, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D' Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, Nabbout R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC. Nephrol Dial Transplant. 2019 Mar 1;34(3):502-508. doi: 10.1093/ndt/gfy063. PMID: 29697822 Free PMC article. 

TuberOus SClerosis registry to increase disease Awareness (TOSCA) - baseline data on 2093 patients. 
Kingswood JC, d'Augères GB, Belousova E, Ferreira JC, Carter T, Castellana R, Cottin V, Curatolo P, Dahlin M, de Vries PJ, Feucht M, Fladrowski C, Gislimberti G, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Nabbout R, O'Callaghan F, Benedik MP, Qin J, Marques R, Sander V, Sauter M, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen AC; TOSCA consortium and TOSCA investigators. Orphanet J Rare Dis. 2017 Jan 5;12(1):2. doi: 10.1186/s13023-016-0553-5. PMID: 28057044 Free PMC article. 

Inflammatory Characteristics of Monocytes from Pediatric Patients with Tuberous Sclerosis. 
Meyer CU, Kurlemann G, Sauter M, Wiemer-Kruel A, Hahn A, Doganci A, Birkholz J, Faber J, Gehring S, Hertzberg C, Zepp F, Knuf M. Neuropediatrics. 2015 Oct;46(5):335-43. doi: 10.1055/s-0035-1562925. Epub 2015 Sep 10. PMID: 26356487 

Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex. 
Hulshof HM, Kuijf HJ, Kotulska K, Curatolo P, Weschke B, Riney K, Krsek P, Feucht M, Nabbout R, Lagae L, Jansen A, Otte WM, Lequin MH, Sijko K, Benvenuto A, Hertzberg C, Benova B, Scholl T, De Ridder J, Aronica EMA, Kwiatkowski DJ, Jozwiak S, Jurkiewicz E, Braun K, Jansen FE; EPISTOP consortium. Neurology. 2022 Mar 22;98(12):e1216-e1225. doi: 10.1212/WNL.0000000000200027. Epub 2022 Jan 31. PMID: 35101906 

Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 
Ramantani G, Kohlhase J, Hertzberg C, Innes AM, Engel K, Hunger S, Borozdin W, Mah JK, Ungerath K, Walkenhorst H, Richardt HH, Buckard J, Bevot A, Siegel C, von Stülpnagel C, Ikonomidou C, Thomas K, Proud V, Niemann F, Wieczorek D, Häusler M, Niggemann P, Baltaci V, Conrad K, Lebon P, Lee-Kirsch MA. Arthritis Rheum. 2010 May;62(5):1469-77. doi: 10.1002/art.27367. PMID: 20131292 

Evolution of electroencephalogram in infants with tuberous sclerosis complex and neurodevelopmental outcome: a prospective cohort study. 
De Ridder J, Kotulska K, Curatolo P, Jansen AC, Aronica E, Kwiatkowski DJ, Jansen FE, Jóźwiak S, Lagae L; Epistop Consortium. Dev Med Child Neurol. 2022 Apr;64(4):495-501. doi: 10.1111/dmcn.15073. Epub 2021 Oct 2. PMID: 34601720 

Location and type of mutation in the LIS1 gene do not predict phenotypic severity. 
Uyanik G, Morris-Rosendahl DJ, Stiegler J, Klapecki J, Gross C, Berman Y, Martin P, Dey L, Spranger S, Korenke GC, Schreyer I, Hertzberg C, Neumann TE, Burkart P, Spaich C, Meng M, Holthausen H, Adès L, Seidel J, Mangold E, Buyse G, Meinecke P, Schara U, Zeschnigk C, Muller D, Helland G, Schulze B, Wright ML, Kortge-Jung S, Hehr A, Bogdahn U, Schuierer G, Kohlhase J, Aigner L, Wolff G, Hehr U, Winkler J. Neurology. 2007 Jul 31;69(5):442-7. doi: 10.1212/01.wnl.0000266629.98503.d0. PMID: 17664403 

TOSCA - first international registry to address knowledge gaps in the natural history and management of tuberous sclerosis complex. 
Kingswood JC, Bruzzi P, Curatolo P, de Vries PJ, Fladrowski C, Hertzberg C, Jansen AC, Jozwiak S, Nabbout R, Sauter M, Touraine R, O'Callaghan F, Zonnenberg B, Crippa S, Comis S, d'Augères GB, Belousova E, Carter T, Cottin V, Dahlin M, Ferreira JC, Macaya A, Benedik MP, Sander V, Youroukos S, Castellana R, Ulker B, Feucht M. Orphanet J Rare Dis. 2014 Nov 26;9:182. doi: 10.1186/s13023-014-0182-9. PMID: 25424195 Free PMC article. 

Congenital ichthyosis in severe type II Gaucher disease with a homozygous null mutation. 
Haverkaemper S, Marquardt T, Hausser I, Timme K, Kuehn T, Hertzberg C, Rossi R. Neonatology. 2011;100(2):194-7. doi: 10.1159/000324116. Epub 2011 Apr 1. PMID: 21455010 

Intact recovery from early 'acquired methylmalonic aciduria' secondary to maternal atrophic gastritis. 
Weber-Ferro W, Hertzberg C, Röder H, Timme K, Rossi R. Acta Paediatr. 2011 Sep;100(9):e138-40. doi: 10.1111/j.1651-2227.2011.02242.x. Epub 2011 Mar 24. PMID: 21352365 

Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. 
Kuss AW, Garshasbi M, Kahrizi K, Tzschach A, Behjati F, Darvish H, Abbasi-Moheb L, Puettmann L, Zecha A, Weissmann R, Hu H, Mohseni M, Abedini SS, Rajab A, Hertzberg C, Wieczorek D, Ullmann R, Ghasemi-Firouzabadi S, Banihashemi S, Arzhangi S, Hadavi V, Bahrami-Monajemi G, Kasiri M, Falah M, Nikuei P, Dehghan A, Sobhani M, Jamali P, Ropers HH, Najmabadi H. Hum Genet. 2011 Feb;129(2):141-8. doi: 10.1007/s00439-010-0907-3. Epub 2010 Nov 10. PMID: 21063731 

Four unrelated patients with Lubs X-linked mental retardation syndrome and different Xq28 duplications. 
Bartsch O, Gebauer K, Lechno S, van Esch H, Froyen G, Bonin M, Seidel J, Thamm-Mücke B, Horn D, Klopocki E, Hertzberg C, Zechner U, Haaf T. Am J Med Genet A. 2010 Feb;152A(2):305-12. doi: 10.1002/ajmg.a.33198. PMID: 20082459 

Severe immune dysregulation with neurological impairment and minor bone changes in a child with spondyloenchondrodysplasia due to two novel mutations in the ACP5 gene. 
Girschick H, Wolf C, Morbach H, Hertzberg C, Lee-Kirsch MA. Pediatr Rheumatol Online J. 2015 Sep 7;13(1):37. doi: 10.1186/s12969-015-0035-7. PMID: 26346816 Free PMC article. 

Congenital disorder of glycosylation type Ij (CDG-Ij, DPAGT1-CDG): extending the clinical and molecular spectrum of a rare disease. 
Würde AE, Reunert J, Rust S, Hertzberg C, Haverkämper S, Nürnberg G, Nürnberg P, Lehle L, Rossi R, Marquardt T. Mol Genet Metab. 2012 Apr;105(4):634-41. doi: 10.1016/j.ymgme.2012.01.001. Epub 2012 Jan 9. PMID: 22304930 

Seizure control and acceptance of the ketogenic diet in GLUT1 deficiency syndrome: a 2- to 5-year follow-up of 15 children enrolled prospectively. 
Klepper J, Scheffer H, Leiendecker B, Gertsen E, Binder S, Leferink M, Hertzberg C, Näke A, Voit T, Willemsen MA. Neuropediatrics. 2005 Oct;36(5):302-8. doi: 10.1055/s-2005-872843. PMID: 16217704 Clinical Trial. 

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. 
Spielmann M, Reichelt G, Hertzberg C, Trimborn M, Mundlos S, Horn D, Klopocki E. Eur J Med Genet. 2011 Jul-Aug;54(4):e441-5. doi: 10.1016/j.ejmg.2011.04.004. Epub 2011 Apr 29. PMID: 21596161 

Iron-containing cytoplasmic inclusions in mouse bone marrow macrophages. 
Hertzberg C, Orlic D. Acta Anat (Basel). 1980;108(2):137-43. doi: 10.1159/000145292. PMID: 7405532 

An electron microscopic study of erythrophagocytosis in the fetal and neonatal rabbit. 
Hertzberg C, Orlic D. J Reticuloendothel Soc. 1980 Jul;28(1):15-26. PMID: 7392017 No abstract available. 

An electron microscopic study of erythropoiesis in fetal and neonatal rabbits. 
Hertzberg C, Orlic D. Acta Anat (Basel). 1981;110(2):164-72. doi: 10.1159/000145426. PMID: 73

Hertzberg C., Franz D.N. (2020) Anticonvulsant Agents: Everolimus. In: Riederer P., Laux G., Mulsant B., Le W., Nagatsu T. (eds) NeuroPsychopharmacotherapy. Springer, Cham. doi.org/10.1007/978-3-319-56015-1_306-1

• TSD e.V. - Tuberöse Sklerose Deutschland e.V.
• GKinD - Gesellschaft der Kinderkrankenhäuser und Kinderabteilungen in Deutschland e.V. 
• DGfE e.V. - Deutsche Gesellschaft für Epileptologie e.V. 
• knw Kindernetzwerk e.V. - Dachverband der Selbsthilfe von Familien mit Kindern und jungen   
• Erwachsenen mit chronischen Erkrankungen und Behinderungen 
• Deutsche Kontinenz Gesellschaft e.V. 
• DGSPJ - Deutsche Gesellschaft für Sozialpädiatrie und Jugendmedizin e.V.