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Results: 1 to 20 of 30

1.

What is influencing the phenotype of the common homozygous polymerase-γ mutation p.Ala467Thr?

Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombès A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmüller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R.

Brain. 2012 Dec;135(Pt 12):3614-26. doi: 10.1093/brain/aws298.

PMID:
23250882
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Polymerase gamma deficiency (POLG): clinical course in a child with a two stage evolution from infantile myocerebrohepatopathy spectrum to an Alpers syndrome and neuropathological findings of Leigh's encephalopathy.

Scalais E, Francois B, Schlesser P, Stevens R, Nuttin C, Martin JJ, Van Coster R, Seneca S, Roels F, Van Goethem G, Löfgren A, De Meirleir L.

Eur J Paediatr Neurol. 2012 Sep;16(5):542-8. doi: 10.1016/j.ejpn.2012.01.013. Epub 2012 Feb 17.

PMID:
22342071
[PubMed - indexed for MEDLINE]
3.

Colonic transit time in mentally retarded persons.

Vande Velde S, Van Biervliet S, Van Goethem G, De Looze D, Van Winckel M.

Int J Colorectal Dis. 2010 Jul;25(7):867-71. doi: 10.1007/s00384-010-0928-3. Epub 2010 Mar 20.

PMID:
20306060
[PubMed - indexed for MEDLINE]
4.

A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.

Kurt B, Jaeken J, Van Hove J, Lagae L, Löfgren A, Everman DB, Jayakar P, Naini A, Wierenga KJ, Van Goethem G, Copeland WC, DiMauro S.

Arch Neurol. 2010 Feb;67(2):239-44. doi: 10.1001/archneurol.2009.332.

PMID:
20142534
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure.

Bohlega S, Van Goethem G, Al Semari A, Löfgren A, Al Hamed M, Van Broeckhoven C, Kambouris M.

Neuromuscul Disord. 2009 Dec;19(12):845-8. doi: 10.1016/j.nmd.2009.10.002. Epub 2009 Oct 22.

PMID:
19853444
[PubMed - indexed for MEDLINE]
6.

Mitochondrial mosaics in the liver of 3 infants with mtDNA defects.

Roels F, Verloo P, Eyskens F, François B, Seneca S, De Paepe B, Martin JJ, Meersschaut V, Praet M, Scalais E, Espeel M, Smet J, Van Goethem G, Van Coster R.

BMC Clin Pathol. 2009 Jun 5;9:4. doi: 10.1186/1472-6890-9-4.

PMID:
19500334
[PubMed]
Free PMC Article
7.

Neurodegenerative Parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation.

Vandenberghe W, Van Laere K, Debruyne F, Van Broeckhoven C, Van Goethem G.

Mov Disord. 2009 Jan 30;24(2):308-9. doi: 10.1002/mds.22198. No abstract available.

PMID:
18973250
[PubMed - indexed for MEDLINE]
8.

Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.

Hakonen AH, Davidzon G, Salemi R, Bindoff LA, Van Goethem G, Dimauro S, Thorburn DR, Suomalainen A.

Eur J Hum Genet. 2007 Jul;15(7):779-83. Epub 2007 Apr 11.

PMID:
17426723
[PubMed - indexed for MEDLINE]
Free Article
9.

Autosomal disorders of mitochondrial DNA maintenance.

Van Goethem G.

Acta Neurol Belg. 2006 Jun;106(2):66-72. Review.

PMID:
16898256
[PubMed - indexed for MEDLINE]
10.

Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics.

Rooms L, Reyniers E, Wuyts W, Storm K, van Luijk R, Scheers S, Wauters J, van den Ende J, Biervliet M, Eyskens F, van Goethem G, Laridon A, Ceulemans B, Courtens W, Kooy RF.

Clin Genet. 2006 Jan;69(1):58-64.

PMID:
16451137
[PubMed - indexed for MEDLINE]
11.

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.

Van Goethem G, Luoma P, Rantamäki M, Al Memar A, Kaakkola S, Hackman P, Krahe R, Löfgren A, Martin JJ, De Jonghe P, Suomalainen A, Udd B, Van Broeckhoven C.

Neurology. 2004 Oct 12;63(7):1251-7.

PMID:
15477547
[PubMed - indexed for MEDLINE]
12.

Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA.

Wanrooij S, Luoma P, van Goethem G, van Broeckhoven C, Suomalainen A, Spelbrink JN.

Nucleic Acids Res. 2004 Jun 4;32(10):3053-64. Print 2004.

PMID:
15181170
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Patient homozygous for a recessive POLG mutation presents with features of MERRF.

Van Goethem G, Mercelis R, Löfgren A, Seneca S, Ceuterick C, Martin JJ, Van Broeckhoven C.

Neurology. 2003 Dec 23;61(12):1811-3.

PMID:
14694057
[PubMed - indexed for MEDLINE]
14.

Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle.

Van Goethem G, Löfgren A, Dermaut B, Ceuterick C, Martin JJ, Van Broeckhoven C.

Hum Mutat. 2003 Aug;22(2):175-6. No abstract available.

PMID:
12872260
[PubMed - indexed for MEDLINE]
15.
16.

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.

Van Goethem G, Schwartz M, Löfgren A, Dermaut B, Van Broeckhoven C, Vissing J.

Eur J Hum Genet. 2003 Jul;11(7):547-9.

PMID:
12825077
[PubMed - indexed for MEDLINE]
Free Article
17.

Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.

Van Goethem G, Martin JJ, Dermaut B, Löfgren A, Wibail A, Ververken D, Tack P, Dehaene I, Van Zandijcke M, Moonen M, Ceuterick C, De Jonghe P, Van Broeckhoven C.

Neuromuscul Disord. 2003 Feb;13(2):133-42.

PMID:
12565911
[PubMed - indexed for MEDLINE]
18.

Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions.

Van Goethem G, Martin JJ, Van Broeckhoven C.

Acta Neurol Belg. 2002 Mar;102(1):39-42. Review.

PMID:
12094562
[PubMed - indexed for MEDLINE]
19.

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.

Van Goethem G, Dermaut B, Löfgren A, Martin JJ, Van Broeckhoven C.

Nat Genet. 2001 Jul;28(3):211-2.

PMID:
11431686
[PubMed - indexed for MEDLINE]
20.

Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy.

Ceuterick-de Groote C, De Jonghe P, Timmerman V, Van Goethem G, Löfgren A, Ceulemans B, Van Broeckhoven C, Martin JJ.

Pathol Res Pract. 2001;197(3):193-8.

PMID:
11314784
[PubMed - indexed for MEDLINE]

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