Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis

Autor: Kuijpers, Taco W. ^*, Maianski, Nikolai A., Tool, Anton T.J., Becker, Kolja, Plecko, Barbara, Valianpour, Fredoen, Wanders, Ron J.A., Pereira, Rob, Van Hove, Johan, Verhoeven, Arthur J., Roos, Dirk, Baas, Frank, Barth, Peter G.

Publikováno v: In Blood 15 May 2004 103(10):3915-3923

The neuropathology of Aicardi-Goutières syndrome

Autor: BARTH, PETER G

Publikováno v: In European Journal of Paediatric Neurology May 2002 6 Supplement A:A27-A31

EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.

Autor: Eggens, Veerle R. C.¹ V.R.Eggens@amc.uva.nl, Barth, Peter G.² pgbarth@xs4all.nl, Niermeijer, Jikke-Mien F.² j.f.niermeijer@amc.uva.nl, Berg, Jonathan N.³ jonathan.berg@nhs.net, Darin, Niklas⁴ niklas.darin@vgregion.se, Dixit, Abhijit⁵ Abhijit.Dixit@nuh.nhs.uk, Fluss, Joel⁶ Joel.Fluss@hcuge.ch, Foulds, Nicola⁷ Nicola.Foulds@uhs.nhs.uk, Fowler, Darren⁸ Darren.Fowler@uhs.nhs.uk, Hortobágyi, Tibor⁹ hortobagyi@med.unideb.hu, Jacques, Thomas¹⁰ Thomas.Jacques@gosh.nhs.uk, King, Mary D.¹¹ Mary.king@cuh.ie, Makrythanasis, Periklis¹² Periklis.Makrythanasis@unige.ch, Máté, Adrienn¹³ mateadree@gmail.com, Nicoll, James A. R.¹⁴ James.Nicoll@uhs.nhs.uk, O'Rourke, Declan¹¹ declanorourke@me.com, Price, Sue¹⁵ sue.price@ngh.nhs.uk, Williams, Andrew N.¹⁵ anw@doctors.org.uk, Wilson, Louise¹⁶ Louise.Wilson@gosh.nhs.uk, Suri, Mohnish⁵ Mohnish.Suri@nuh.nhs.uk

Publikováno v: Orphanet Journal of Rare Diseases. 2014, Vol. 9 Issue 1, p1-21. 21p.

Update on pontocerebellar hypoplasia : novel subtypes, genes and insights

Autor: Eggens, Veerle R. C., Barth, Peter G., Baas, Frank, D'Arrigo, Stefano, Riva, Daria, Valente, Enza Maria

Publikováno v: Paediatric neurological disorders with cerebellar involvement : Diagnosis and management, 75-82
STARTPAGE=75;ENDPAGE=82;TITLE=Paediatric neurological disorders with cerebellar involvement : Diagnosis and management

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=narcis______::d326d832078b3a76295c57e8f7cb3f86
https://pure.amc.nl/en/publications/update-on-pontocerebellar-hypoplasia--novel-subtypes-genes-and-insights(32323a1a-dbe9-4c57-acef-0b8bcf960cab).html

40 - Neurological problems in the newborn

Autor: Rennie, Janet M, Huertas-Ceballos, Angela, Boylan, Geraldine B, Shah, Divyen K, Robertson, Nicola J, Groenendaal, Floris, Dyet, Leigh E, Barth, Peter G, Manzur, Adnan Y, Robb, Stephanie A, Muntoni, Francesco, Hagmann, Cornelia

Publikováno v: In Rennie & Roberton's Textbook of Neonatology Edition: Fifth Edition. 2012:1065-1223