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Items: 28

1.

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.

2.

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.

3.

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.

4.

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). pii: E788. doi: 10.3390/jcm8060788.

5.

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.

6.

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.

7.

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. Review.

PMID:
29880258
8.

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.

9.

[The autonomous road to your own death].

Hertzberg CK.

Tidsskr Nor Laegeforen. 2018 Jan 8;138(1). doi: 10.4045/tidsskr.17.0987. Print 2018 Jan 9. Norwegian. No abstract available.

10.

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.

11.

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. Review.

PMID:
26927950
12.

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
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.

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.

14.

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.

15.

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
16.

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
17.

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
18.

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
19.

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
20.

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
21.

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
22.

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.

23.

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
24.

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.

PMID:
17664403
25.

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.

PMID:
16217704
26.

An electron microscopic study of erythropoiesis in fetal and neonatal rabbits.

Hertzberg C, Orlic D.

Acta Anat (Basel). 1981;110(2):164-72.

PMID:
7331750
27.

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. No abstract available.

PMID:
7392017
28.

Iron-containing cytoplasmic inclusions in mouse bone marrow macrophages.

Hertzberg C, Orlic D.

Acta Anat (Basel). 1980;108(2):137-43.

PMID:
7405532

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