Van Goethem Gert (21)
- Hoofdstuk uit boek (1)
- Tijdschriftartikel (20)
Deze auteur behoort tot volgende faculteit(en):
Er zijn publicaties voor de volgende jaren:
2012
Tijdschriftartikel-
Scalais Emmanuel, Francois Baudouin, Schlesser Patrick, Martin Jean-Jacques, Van Goethem Gert, et al. .- 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 Leighs encephalopathy
2009
Tijdschriftartikel-
Vandenberghe Wim, van Laere Koen, Debruyne Frederik, Van Broeckhoven Christine, Van Goethem Gert.- Neurodegenerative parkinsonism and progressive external ophthalmoplegia with a Twinkle mutation
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Bohlega S., Van Goethem Gert, al Semari A., Löfgren Ann, al Hamed M., Van Broeckhoven Christine, Kambouris M..- Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure
2006
Tijdschriftartikel-
Van Goethem Gert.- Autosomal disorders of mitochondrial DNA maintenance
Acta neurologica Belgica / Société belge de neurologie. Groupement belge d'études oto-neuro-ophtalmologiques. Groupement belge de neuropathologie - ISSN 0300-9009 - 106:2(2006), p. 66-72
[c:irua:59703]
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Rooms Liesbeth, Reyniers E., Wuyts Wim, Storm K., van Luijk R., Scheers S., Wauters Jan, van den Ende Jef, Biervliet Martine, Eyskens F., Van Goethem Gert, Laridon A., Ceulemans Berten, Courtens Winnie, Kooy Frank.- Multiplex ligation-dependent probe amplification to detect subtelomeric rearrangements in routine diagnostics
Clinical genetics - ISSN 0009-9163 - 69:1(2006), p. 58-64
[c:irua:56466]
2004
Tijdschriftartikel-
Van Goethem Gert, Luoma P., Rantamäki M., al Memar A., Kaakkola S., Hackman P., Krahe R., Löfgren Ann, Martin Jean-Jacques, De Jonghe Peter, Suomalainen A., Udd B., Van Broeckhoven Christine.- POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement
Neurology / American Academy of Neurology - ISSN 0028-3878 - 63(2004), p. 1251-1257
[c:irua:49324]
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Wanrooij Sjoerd, Luoma Petri, Van Goethem Gert, Van Broeckhoven Christine, Suomalainen Anu, Spelbrink Johannes N..- Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA
Nucleic acids research - ISSN 0305-1048 - 32:10(2004), p. 3053-3064
[c:irua:54658]
2003
Tijdschriftartikel-
Van Goethem Gert, Löfgren Ann, Dermaut Bart, de Groote-Ceuterick Chantal, Martin Jean-Jacques, Van Broeckhoven Christine.- Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle
Human mutation - ISSN 1059-7794 - 22(2003), p. 175-176
[c:irua:42258]
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Van Goethem Gert, Schwartz M., Löfgren Ann, Dermaut Bart, Van Broeckhoven Christine, Vissing J..- Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy
European journal of human genetics / European Society of Human Genetics - ISSN 1018-4813 - 11:7(2003), p. 547-549
[c:irua:45560]
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Van Goethem Gert, Mercelis Rudolf, Löfgren Ann, Seneca S., de Groote-Ceuterick Chantal, Martin Jean-Jacques, Van Broeckhoven Christine.- Patient homozygous for a recessive POLG mutation presents with features of MERRF
Neurology / American Academy of Neurology - ISSN 0028-3878 - 61:12(2003), p. 1811-1813
[c:irua:43245]
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Van Goethem Gert, Martin Jean-Jacques, Van Broeckhoven Christine.- Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA
Neuromolecular medicine - 3(2003), p. 129-146
[c:irua:42360]
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Van Goethem Gert, Martin Jean-Jacques, Dermaut Bart, Löfgren Ann, Wibail A., Ververken D., Tack P., Dehaene I., van Zandijcke M., Moonen M., de Groote-Ceuterick Chantal, De Jonghe Peter, Van Broeckhoven Christine.- Recessive **POLG** mutations presenting with ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia
Neuromuscular disorders - ISSN 0960-8966 - 13(2003), p. 133-142
[c:irua:40471]
2002
Tijdschriftartikel2001
Tijdschriftartikel-
de Groote-Ceuterick Chantal, De Jonghe Peter, Timmerman Vincent, Van Goethem Gert, Löfgren Ann, Ceulemans Berten, Van Broeckhoven Christine, Martin Jean-Jacques.- Infantile demyelinating neuropathy associated with a de novo point mutation on Ser72 in PMP22 and basal lamina onion bulbs in skin biopsy
Pathology, research and practice / European Society of Pathology - ISSN 0344-0338 - 197:3(2001), p. 193-198
[c:irua:33836]
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Van Goethem Gert, Dermaut Bart, Löfgren Ann, Martin Jean-Jacques, Van Broeckhoven Christine.- Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
Nature genetics - ISSN 1061-4036 - 28(2001), p. 211-212
[c:irua:35085]
2000
Tijdschriftartikel-
Claes Stephan, Devriendt K., Van Goethem Gert, Roelen L., Meireleire J., Raeymaekers Peter, Cassiman J.J., Fryns J.P..- A novel syndromic form of X-linked complicated spastic paraplegia
American journal of medical genetics - ISSN 0148-7299 - 94(2000), p. 1-4
[c:irua:35286]
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Van Goethem Gert, Löfgren Ann, Raeymaekers Peter, Martin Jean-Jacques, Van Broeckhoven Christine.- Further evidence for genetic heterogeneity of autosomal dominant disorders with accumulation of multiple deletions of mitochondrial DNA
Journal of medical genetics - ISSN 0022-2593 - 37(2000), p. 547-548
[c:irua:28221]
1998
Tijdschriftartikel1997
Tijdschriftartikel-
Martin Jean-Jacques, de Groote-Ceuterick Chantal, Van Goethem Gert.- On a dominantly inherited myopathy with tubular aggregates
Neuromuscular disorders - ISSN 0960-8966 - 7(1997), p. 512-520
[c:irua:20578]
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Van Goethem Gert, Martin Jean-Jacques, Löfgren Ann, Dehaene I., Tack P., van Zandycke M., Ververken D., de Groote-Ceuterick Chantal, Van Broeckhoven Christine.- Unusual presentation and clinical variability in Belgian pedigrees with progressive external ophthalmoplegia and multiple deletions of mitochondrial DNA
European journal of neurology / European Federation of Neurological Societies - ISSN 1351-5101 - 4(1997), p. 476-484
[c:irua:20577]
1995
Hoofdstuk uit boek