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Items: 1 to 50 of 219

1.

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

Mazar I, Stokes J, Ollis S, Love E, Espensen A, Barth PG, Powers JH 3rd, Shields AL.

Orphanet J Rare Dis. 2019 Nov 7;14(1):243. doi: 10.1186/s13023-019-1200-8.

2.

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

van Dijk T, Baas F, Barth PG, Poll-The BT.

Orphanet J Rare Dis. 2018 Jun 15;13(1):92. doi: 10.1186/s13023-018-0826-2. Review.

3.

Deregulated expression of EZH2 in congenital brainstem disconnection.

Barth PG, Aronica E, Fox S, Fluiter K, Weterman MAJ, Poretti A, Miller DC, Boltshauser E, Harding B, Santi M, Baas F.

Neuropathol Appl Neurobiol. 2017 Jun;43(4):358-365. doi: 10.1111/nan.12368. No abstract available.

PMID:
27886392
4.

TSEN54-Related Pontocerebellar Hypoplasia.

Namavar Y, Eggens VRC, Barth PG, Baas F.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2009 Sep 8 [updated 2016 Jul 14].

5.

Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood.

Berendse K, Engelen M, Ferdinandusse S, Majoie CB, Waterham HR, Vaz FM, Koelman JH, Barth PG, Wanders RJ, Poll-The BT.

J Inherit Metab Dis. 2016 Jan;39(1):93-106. doi: 10.1007/s10545-015-9880-2. Epub 2015 Aug 19.

6.

Mutation update: the spectra of nebulin variants and associated myopathies.

Lehtokari VL, Kiiski K, Sandaradura SA, Laporte J, Repo P, Frey JA, Donner K, Marttila M, Saunders C, Barth PG, den Dunnen JT, Beggs AH, Clarke NF, North KN, Laing NG, Romero NB, Winder TL, Pelin K, Wallgren-Pettersson C.

Hum Mutat. 2014 Dec;35(12):1418-26. doi: 10.1002/humu.22693.

7.

EXOSC3-Related Pontocerebellar Hypoplasia.

Eggens VRC, Barth PG, Baas F.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
2014 Aug 21.

8.

Pontocerebellar hypoplasia.

Rudnik-Schöneborn S, Barth PG, Zerres K.

Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):173-83. doi: 10.1002/ajmg.c.31403. Epub 2014 Jun 12. Review.

PMID:
24924738
9.

Natural course of pontocerebellar hypoplasia type 2A.

Sánchez-Albisua I, Frölich S, Barth PG, Steinlin M, Krägeloh-Mann I.

Orphanet J Rare Dis. 2014 May 5;9:70. doi: 10.1186/1750-1172-9-70.

10.

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.

Orphanet J Rare Dis. 2014 Feb 13;9:23. doi: 10.1186/1750-1172-9-23.

11.

Ectopic peripontine arcuate fibres, a novel finding in pontine tegmental cap dysplasia.

Caan MW, Barth PG, Niermeijer JM, Majoie CB, Poll-The BT.

Eur J Paediatr Neurol. 2014 May;18(3):434-8. doi: 10.1016/j.ejpn.2013.12.007. Epub 2014 Jan 11.

PMID:
24485946
12.

The neurology of rhizomelic chondrodysplasia punctata.

Bams-Mengerink AM, Koelman JH, Waterham H, Barth PG, Poll-The BT.

Orphanet J Rare Dis. 2013 Oct 30;8:174. doi: 10.1186/1750-1172-8-174.

13.

Recessive MYL2 mutations cause infantile type I muscle fibre disease and cardiomyopathy.

Weterman MA, Barth PG, van Spaendonck-Zwarts KY, Aronica E, Poll-The BT, Brouwer OF, van Tintelen JP, Qahar Z, Bradley EJ, de Wissel M, Salviati L, Angelini C, van den Heuvel L, Thomasse YE, Backx AP, Nürnberg G, Nürnberg P, Baas F.

Brain. 2013 Jan;136(Pt 1):282-93. doi: 10.1093/brain/aws293.

PMID:
23365102
14.

Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature.

Wortmann SB, Duran M, Anikster Y, Barth PG, Sperl W, Zschocke J, Morava E, Wevers RA.

J Inherit Metab Dis. 2013 Nov;36(6):923-8. doi: 10.1007/s10545-012-9580-0. Epub 2013 Jan 8. Review.

PMID:
23296368
15.

Rhombencephalosynapsis: new findings in a larger study.

Barth PG.

Brain. 2012 May;135(Pt 5):1346-7. doi: 10.1093/brain/aws089. Epub 2012 Apr 4. No abstract available.

PMID:
22492564
16.

Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia.

Namavar Y, Barth PG, Poll-The BT, Baas F.

Orphanet J Rare Dis. 2011 Jul 12;6:50. doi: 10.1186/1750-1172-6-50. Review.

17.

Cerebellar dentate dysplasia.

Barth PG.

Brain Dev. 2011 Sep;33(8):621-6. doi: 10.1016/j.braindev.2011.02.008. Epub 2011 Mar 26. Review.

PMID:
21441008
18.

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.

Eur J Hum Genet. 2011 Jun;19(6):724-6. doi: 10.1038/ejhg.2011.8. Epub 2011 Feb 2.

19.

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia.

Namavar Y, Barth PG, Kasher PR, van Ruissen F, Brockmann K, Bernert G, Writzl K, Ventura K, Cheng EY, Ferriero DM, Basel-Vanagaite L, Eggens VR, Krägeloh-Mann I, De Meirleir L, King M, Graham JM Jr, von Moers A, Knoers N, Sztriha L, Korinthenberg R; PCH Consortium, Dobyns WB, Baas F, Poll-The BT.

Brain. 2011 Jan;134(Pt 1):143-56. doi: 10.1093/brain/awq287. Epub 2010 Oct 15.

PMID:
20952379
20.

Rhombencephalosynapsis.

Barth PG.

Handb Clin Neurol. 2008;87:53-65. doi: 10.1016/S0072-9752(07)87004-7. No abstract available.

PMID:
18809018
21.

Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines.

Ebberink MS, Mooyer PA, Koster J, Dekker CJ, Eyskens FJ, Dionisi-Vici C, Clayton PT, Barth PG, Wanders RJ, Waterham HR.

Hum Mutat. 2009 Jan;30(1):93-8. doi: 10.1002/humu.20833.

PMID:
18712838
22.

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia.

Budde BS, Namavar Y, Barth PG, Poll-The BT, Nürnberg G, Becker C, van Ruissen F, Weterman MA, Fluiter K, te Beek ET, Aronica E, van der Knaap MS, Höhne W, Toliat MR, Crow YJ, Steinling M, Voit T, Roelenso F, Brussel W, Brockmann K, Kyllerman M, Boltshauser E, Hammersen G, Willemsen M, Basel-Vanagaite L, Krägeloh-Mann I, de Vries LS, Sztriha L, Muntoni F, Ferrie CD, Battini R, Hennekam RC, Grillo E, Beemer FA, Stoets LM, Wollnik B, Nürnberg P, Baas F.

Nat Genet. 2008 Sep;40(9):1113-8. doi: 10.1038/ng.204.

PMID:
18711368
23.

Congenital brainstem disconnection associated with a syrinx of the brainstem.

Barth PG, de Vries LS, Nikkels PG, Troost D.

Neuropediatrics. 2008 Feb;39(1):1-7. doi: 10.1055/s-2008-1077049.

PMID:
18504674
24.

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.

Neuromuscul Disord. 2008 Jan;18(1):52-8. Epub 2007 Sep 6.

PMID:
17825555
25.

Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance.

Barth PG, Majoie CB, Caan MW, Weterman MA, Kyllerman M, Smit LM, Kaplan RA, Haas RH, Baas F, Cobben JM, Poll-The BT.

Brain. 2007 Sep;130(Pt 9):2258-66. Epub 2007 Aug 9.

PMID:
17690130
26.

Pontocerebellar hypoplasia type 2: a neuropathological update.

Barth PG, Aronica E, de Vries L, Nikkels PG, Scheper W, Hoozemans JJ, Poll-The BT, Troost D.

Acta Neuropathol. 2007 Oct;114(4):373-86. Epub 2007 Jul 20.

27.

Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families.

van der Kooi AJ, Frankhuizen WS, Barth PG, Howeler CJ, Padberg GW, Spaans F, Wintzen AR, Wokke JH, van Ommen GJ, de Visser M, Bakker E, Ginjaar HB.

Neurology. 2007 Jun 12;68(24):2125-8.

PMID:
17562833
28.

Lorenzo's oil and platelet activation in adrenomyeloneuropathy and asymptomatic X-linked adrenoleukodystrophy.

Konijnenberg A, van Geel BM, Sturk A, Schaap MC, von dem Borne AE, de Bruijne-Admiraal LG, Schutgens RB, Assies J, Barth PG.

Platelets. 1998;9(1):41-8.

PMID:
16793744
29.

High incidence of hyperoxaluria in generalized peroxisomal disorders.

van Woerden CS, Groothoff JW, Wijburg FA, Duran M, Wanders RJ, Barth PG, Poll-The BT.

Mol Genet Metab. 2006 Aug;88(4):346-50. Epub 2006 Apr 18.

PMID:
16621644
30.

MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata.

Bams-Mengerink AM, Majoie CB, Duran M, Wanders RJ, Van Hove J, Scheurer CD, Barth PG, Poll-The BT.

Neurology. 2006 Mar 28;66(6):798-803; discussion 789.

PMID:
16567694
31.

Sequential MR imaging changes in nonketotic hyperglycinemia.

Mourmans J, Majoie CB, Barth PG, Duran M, Akkerman EM, Poll-The BT.

AJNR Am J Neuroradiol. 2006 Jan;27(1):208-11.

32.

Clinical and biochemical spectrum of D-bifunctional protein deficiency.

Ferdinandusse S, Denis S, Mooyer PA, Dekker C, Duran M, Soorani-Lunsing RJ, Boltshauser E, Macaya A, Gärtner J, Majoie CB, Barth PG, Wanders RJ, Poll-The BT.

Ann Neurol. 2006 Jan;59(1):92-104.

PMID:
16278854
33.
34.

Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption.

van Straaten HL, van Tintelen JP, Trijbels JM, van den Heuvel LP, Troost D, Rozemuller JM, Duran M, de Vries LS, Schuelke M, Barth PG.

Neuropediatrics. 2005 Jun;36(3):193-9.

PMID:
15944905
35.

Etiology of mental retardation in children referred to a tertiary care center: a prospective study.

van Karnebeek CD, Scheper FY, Abeling NG, Alders M, Barth PG, Hoovers JM, Koevoets C, Wanders RJ, Hennekam RC.

Am J Ment Retard. 2005 Jul;110(4):253-67.

PMID:
15941363
36.

POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.

van Reeuwijk J, Janssen M, van den Elzen C, Beltran-Valero de Bernabé D, Sabatelli P, Merlini L, Boon M, Scheffer H, Brockington M, Muntoni F, Huynen MA, Verrips A, Walsh CA, Barth PG, Brunner HG, van Bokhoven H.

J Med Genet. 2005 Dec;42(12):907-12. Epub 2005 May 13.

37.

Cerebral, cerebellar, and colobomatous anomalies in three related males: Sex-linked inheritance in a newly recognized syndrome with features overlapping with Joubert syndrome.

Kroes HY, Nievelstein RJ, Barth PG, Nikkels PG, Bergmann C, Gooskens RH, Visser G, van Amstel HK, Beemer FA.

Am J Med Genet A. 2005 Jun 15;135(3):297-301.

PMID:
15887274
38.

Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis.

Valianpour F, Mitsakos V, Schlemmer D, Towbin JA, Taylor JM, Ekert PG, Thorburn DR, Munnich A, Wanders RJ, Barth PG, Vaz FM.

J Lipid Res. 2005 Jun;46(6):1182-95. Epub 2005 Apr 1.

39.

Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy.

Kemp S, Valianpour F, Denis S, Ofman R, Sanders RJ, Mooyer P, Barth PG, Wanders RJ.

Mol Genet Metab. 2005 Feb;84(2):144-51. Erratum in: Mol Genet Metab. 2008 Mar;93(3):350.

PMID:
15670720
40.

Burkitt lymphoma in a child with Joubert syndrome.

Brinkman J, de Nef JJ, Barth PG, Verschuur AC.

Pediatr Blood Cancer. 2005 Apr;44(4):397-9.

PMID:
15562502
41.

Peroxisomal biogenesis disorder: comparison of conventional MR imaging with diffusion-weighted and diffusion-tensor imaging findings.

ter Rahe BS, Majoie CB, Akkerman EM, den Heeten GJ, Poll-The BT, Barth PG.

AJNR Am J Neuroradiol. 2004 Jun-Jul;25(6):1022-7.

42.

The spectrum of cranial ultrasound and magnetic resonance imaging abnormalities in congenital cytomegalovirus infection.

de Vries LS, Gunardi H, Barth PG, Bok LA, Verboon-Maciolek MA, Groenendaal F.

Neuropediatrics. 2004 Apr;35(2):113-9.

PMID:
15127310
43.

X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update.

Barth PG, Valianpour F, Bowen VM, Lam J, Duran M, Vaz FM, Wanders RJ.

Am J Med Genet A. 2004 May 1;126A(4):349-54. Review.

PMID:
15098233
44.

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.

Am J Med Genet A. 2004 May 1;126A(4):333-8.

PMID:
15098231
46.

Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival.

Barth PG, Majoie CB, Gootjes J, Wanders RJ, Waterham HR, van der Knaap MS, de Klerk JB, Smeitink J, Poll-The BT.

Neurology. 2004 Feb 10;62(3):439-44.

PMID:
14872027
47.

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

Kuijpers TW, Maianski NA, Tool AT, Becker K, Plecko B, Valianpour F, Wanders RJ, Pereira R, Van Hove J, Verhoeven AJ, Roos D, Baas F, Barth PG.

Blood. 2004 May 15;103(10):3915-23. Epub 2004 Feb 5.

PMID:
14764526
48.

Biochemical markers predicting survival in peroxisome biogenesis disorders.

Gootjes J, Mooijer PA, Dekker C, Barth PG, Poll-The BT, Waterham HR, Wanders RJ.

Adv Exp Med Biol. 2003;544:67-8. No abstract available.

PMID:
14713214
49.

PTEN hamartoma tumour syndrome: variability of an entity.

Merks JH, de Vries LS, Zhou XP, Nikkels P, Barth PG, Eng C, Hennekam RC.

J Med Genet. 2003 Oct;40(10):e111. No abstract available.

50.

Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism.

Vaz FM, Houtkooper RH, Valianpour F, Barth PG, Wanders RJ.

J Biol Chem. 2003 Oct 31;278(44):43089-94. Epub 2003 Aug 20. Erratum in: J Biol Chem. 2004 Jun 18;279(25):26802.

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