Barth PG - Search Results

1

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

van Dijk T, Baas F, Barth PG, Poll-The BT. van Dijk T, et al. Among authors: barth pg. Orphanet J Rare Dis. 2018 Jun 15;13(1):92. doi: 10.1186/s13023-018-0826-2. Orphanet J Rare Dis. 2018. PMID: 29903031 Free PMC article. Review.

2

Pontocerebellar hypoplasia with spinal muscular atrophy (PCH1): identification of SLC25A46 mutations in the original Dutch PCH1 family.

van Dijk T, Rudnik-Schöneborn S, Senderek J, Hajmousa G, Mei H, Dusl M, Aronica E, Barth P, Baas F. van Dijk T, et al. Brain. 2017 Aug 1;140(8):e46. doi: 10.1093/brain/awx147. Brain. 2017. PMID: 28637197 No abstract available.

3

Postnatal Brain Growth Patterns in Pontocerebellar Hypoplasia.

van Dijk T, Barth P, Baas F, Reneman L, Poll-The BT. van Dijk T, et al. Neuropediatrics. 2021 Jun;52(3):163-169. doi: 10.1055/s-0040-1716900. Epub 2020 Oct 27. Neuropediatrics. 2021. PMID: 33111306

4

TSEN54 mutations cause pontocerebellar hypoplasia type 5.

Namavar Y, Chitayat D, Barth PG, van Ruissen F, de Wissel MB, Poll-The BT, Silver R, Baas F. Namavar Y, et al. Among authors: barth pg. Eur J Hum Genet. 2011 Jun;19(6):724-6. doi: 10.1038/ejhg.2011.8. Epub 2011 Feb 2. Eur J Hum Genet. 2011. PMID: 21368912 Free PMC article.

5

Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.

Namavar Y, Barth PG, Poll-The BT, Baas F. Namavar Y, et al. Among authors: barth pg. Orphanet J Rare Dis. 2011 Jul 12;6:50. doi: 10.1186/1750-1172-6-50. Orphanet J Rare Dis. 2011. PMID: 21749694 Free PMC article. Review.

6

The neurology of rhizomelic chondrodysplasia punctata.

Bams-Mengerink AM, Koelman JH, Waterham H, Barth PG, Poll-The BT. Bams-Mengerink AM, et al. Among authors: barth pg. Orphanet J Rare Dis. 2013 Oct 30;8:174. doi: 10.1186/1750-1172-8-174. Orphanet J Rare Dis. 2013. PMID: 24172221 Free PMC article.

7

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

Eggens VR, Barth PG, Niermeijer JM, Berg JN, Darin N, Dixit A, Fluss J, Foulds N, Fowler D, Hortobágyi T, Jacques T, King MD, Makrythanasis P, Máté A, Nicoll JA, O'Rourke D, Price S, Williams AN, Wilson L, Suri M, Sztriha L, Dijns-de Wissel MB, van Meegen MT, van Ruissen F, Aronica E, Troost D, Majoie CB, Marquering HA, Poll-Thé BT, Baas F. Eggens VR, et al. Among authors: barth pg. Orphanet J Rare Dis. 2014 Feb 13;9:23. doi: 10.1186/1750-1172-9-23. Orphanet J Rare Dis. 2014. PMID: 24524299 Free PMC article.

8

A de novo missense mutation in the inositol 1,4,5-triphosphate receptor type 1 gene causing severe pontine and cerebellar hypoplasia: Expanding the phenotype of ITPR1-related spinocerebellar ataxia's.

van Dijk T, Barth P, Reneman L, Appelhof B, Baas F, Poll-The BT. van Dijk T, et al. Am J Med Genet A. 2017 Jan;173(1):207-212. doi: 10.1002/ajmg.a.37962. Epub 2016 Nov 9. Am J Med Genet A. 2017. PMID: 27862915 Review.

9

Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients.

Poll-The BT, Gootjes J, Duran M, De Klerk JB, Wenniger-Prick LJ, Admiraal RJ, Waterham HR, Wanders RJ, Barth PG. Poll-The BT, et al. Among authors: barth pg. Am J Med Genet A. 2004 May 1;126A(4):333-8. doi: 10.1002/ajmg.a.20664. Am J Med Genet A. 2004. PMID: 15098231

10

Rhabdomyolysis in pontocerebellar hypoplasia type 2 (PCH-2).

Barth PG, Ryan MM, Webster RI, Aronica E, Kan A, Ramkema M, Jardine P, Poll-The BT. Barth PG, et al. Neuromuscul Disord. 2008 Jan;18(1):52-8. doi: 10.1016/j.nmd.2007.08.001. Epub 2007 Sep 6. Neuromuscul Disord. 2008. PMID: 17825555

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