Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia

por Namavar, Yasmin, Barth, Peter G, Poll-The, Bwee Tien, Baas, Frank
Publicado 2011

What’s new in pontocerebellar hypoplasia? An update on genes and subtypes

por van Dijk, Tessa, Baas, Frank, Barth, Peter G., Poll-The, Bwee Tien
Publicado 2018

Natural course of pontocerebellar hypoplasia type 2A

por Sánchez-Albisua, Iciar, Frölich, Saskia, Barth, Peter G, Steinlin, Maja, Krägeloh-Mann, Ingeborg
Publicado 2014

The neurology of rhizomelic chondrodysplasia punctata

por Bams-Mengerink, Annemieke M, Koelman, Johannes HTM, Waterham, Hans, Barth, Peter G, Poll-The, Bwee Tien
Publicado 2013

Understanding the life experience of Barth syndrome from the perspective of adults: a qualitative one-on-one interview study

por Mazar, Iyar, Stokes, Jonathan, Ollis, Sarah, Love, Emily, Espensen, Ashlee, Barth, Peter G., Powers, John H., Shields, Alan L.
Publicado 2019

Pontocerebellar hypoplasia type 2: a neuropathological update

por Barth, Peter G., Aronica, Eleonora, de Vries, Linda, Nikkels, Peter G. J., Scheper, Wiep, Hoozemans, Jeroen J., Poll-The, Bwe - Tien, Troost, Dirk
Publicado 2007

Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood

por Berendse, Kevin, Engelen, Marc, Ferdinandusse, Sacha, Majoie, Charles B. L. M., Waterham, Hans R., Vaz, Frédéric M., Koelman, Johannes H. T. M., Barth, Peter G., Wanders, Ronald J. A., Poll-The, Bwee Tien
Publicado 2015

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

por Eggens, Veerle RC, Barth, Peter G, Niermeijer, Jikke-Mien F, Berg, Jonathan N, Darin, Niklas, Dixit, Abhijit, Fluss, Joel, Foulds, Nicola, Fowler, Darren, Hortobágyi, Tibor, Jacques, Thomas, King, Mary D, Makrythanasis, Periklis, Máté, Adrienn, Nicoll, James AR, O’Rourke, Declan, Price, Sue, Williams, Andrew N, Wilson, Louise, Suri, Mohnish, Sztriha, Laszlo, Dijns-de Wissel, Marit B, van Meegen, Mia T, van Ruissen, Fred, Aronica, Eleonora, Troost, Dirk, Majoie, Charles BLM, Marquering, Henk A, Poll-Thé, Bwee Tien, Baas, Frank
Publicado 2014