Search Results - "Van Goethem, G."

POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement by VAN GOETHEM, G, LUOMA, P, SUOMALAINEN, A, UDD, B, VAN BROECKHOVEN, C, RANTAMÄKI, M, AL MEMAR, A, KAAKKOLA, S, HACKMAN, P, KRAHE, R, LÖFGREN, A, MARTIN, J. J, DE JONGHE, P

“…To identify POLG mutations in patients with sensory ataxia and CNS features. The authors characterized clinical, laboratory, and molecular genetic features in…”
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Fatal Encephalitis Caused by Mycoplasma pneumoniae Diagnosed by the Polymerase Chain Reaction by Ieven, M., Demey, H., Ursi, D., Van Goethem, G., Cras, P., Goossens, H.

“…The most frequent complications of infections due to Mycoplasma pneumoniae occur in the CNS. However, M. pneumoniae is rarely cultured from CSF. The lack of…”
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Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia by Van Goethem, G, Martin, J.J, 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

“…Autosomal recessive progressive external ophthalmoplegia is a mitochondrial disease characterized by accumulation of multiple large-scale deletions of…”
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Patient homozygous for a recessive POLG mutation presents with features of MERRF by VAN GOETHEM, G, MERCELIS, R, LÖFGREN, A, SENECA, S, CEUTERICK, C, MARTIN, J. J, VAN BROECKHOVEN, C

“…Both dominant and recessive missense mutations were recently reported in the gene encoding the mitochondrial DNA polymerase gamma (POLG) in patients with…”
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FISA-2009 Conference on Euratom Research and Training Activities: Nuclear Fission – Past, Present and Future (Generation-II, -III and -IV + Partitioning and Transmutation) by Bhatnagar, V., Deffrennes, M., Hugon, M., Manolatos, P., Ptackova, K., Van Goethem, G., Webster, S.

“…This paper is an introduction to the research and training activities carried out under the Euratom 7th Framework Programme (FP7, 2007–2011) in the field of…”
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Digenic progressive external ophthalmoplegia in a sporadic patient: Recessive mutations in POLG and C10orf2/Twinkle by Goethem, Gert Van, Löfgren, Ann, Dermaut, Bart, Ceuterick, Chantal, Martin, Jean-Jacques, Broeckhoven, Christine Van

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

“…Subtelomeric rearrangements are believed to be responsible for 5–7% of idiopathic mental retardation cases. Due to the relative complexity and high cost of the…”
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Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure by Bohlega, S, Van Goethem, G, Al Semari, A, Löfgren, A, Al Hamed, M, Van Broeckhoven, C, Kambouris, M

“…Abstract A Saudi Arabian family presented with adult onset autosomal dominant progressive external ophthalmoplegia (adPEO) complicated by late onset reversible…”
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Euratom innovation in nuclear fission: Community research in reactor systems and fuel cycles by Van Goethem, G., Hugon, M., Bhatnagar, V., Manolatos, P., Deffrennes, M.

“…The following questions are naturally at the heart of the current Euratom research and training framework programme: (1) What are the challenges facing the…”
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P79 What modifies the clinical presentation of the common homozygous p.A467T POLG mutation? by Neeve, V.C.M, van den Bosch, B, Van Goethem, G, Bindoff, L, Smeets, B, Lombes, A, Hirano, M, DiMauro, S, De Vries, M, Smeitink, J, Czermin, B, Holinski-Feder, E, Hudson, G, Turnbull, D.M, Taylor, R.W, Chinnery, P.F, Horvath, R

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The sixth Euratom framework programme 2003–2006: a driving force for the construction of the Nuclear European Research Area by Fernandez-Ruiz, P., Forsström, H., Van Goethem, G.

“…At the Lisbon 2000 summit, a strategic goal was proposed for the European Union: “to become the most competitive knowledge-based economy with more and better…”
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EU research in “operational safety of existing installations” under the nuclear fission programme 1998–2002 by Van Goethem, G, Zurita, A, Manolatos, P, Bermejo, J.Martin, Casalta, S

“…In this paper, an overview is given of the most important aspects of the research activities organised by the European Union (EU) in the area of reactor safety…”
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Further evidence for genetic heterogeneity of autosomal dominant disorders with accumulation of multiple deletions of mitochondrial DNA by VAN GOETHEM, GERT, LÖFGREN, ANN, MARTIN, JEAN-JACQUES, VAN BROECKHOVEN, CHRISTINE

“…[...]different modes of inheritance are encountered in disorders of oxidative phosphorylation…”
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Main achievements of FP-4 research in reactor safety by Van Goethem, G, Zurita, A, Martin Bermejo, J, Lemaı̂tre, P, Bischoff, H

“…This summary paper deals with the strategy, the organisation and main achievements of the 67 multi-partner projects cosponsored by the European Union (EU) as…”
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Euratom Framework Programme research in reactor safety: main achievements of FP-4 ('94–'98), preliminary results of FP-5 ('98–'02) and prospects for beyond 2002 by Van Goethem, G, Zurita, A, Martin Bermejo, J, Lemaı̂tre, P

“…In this paper an overview is given of the most important aspects of the research activities organised by the European Union (EU) in the area of reactor safety…”
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EC-sponsored research activities on innovative passive safety systems by Martin Bermejo, J, Van Goethem, G

“…On April 26th 1994, the European Union (EU) adopted via a Council Decision a EURATOM Multiannual Programme for community activities in the field of nuclear…”
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Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions by Van Broeckhoven, Christine, Van Goethem, Gert, Dermaut, Bart, Löfgren, Ann, Martin, Jean-Jacques

“…Progressive external ophthalmoplegias (PEO) characterized by accumulation of large-scale mitochondrial DNA (mtDNA) deletions are rare human diseases. We mapped…”
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Infantile Demyelinating Neuropathy Associated with a de novo Point Mutation on Ser72 in PMP22 and Basal Lamina Onion Bulbs in Skin Biopsy by Ceuterick-de Groote, C., De Jonghe, P., De Jonghe, P., Timmerman, V., Van Goethem, G., Löfgren, A., Ceulemans, B., Van Broeckhoven, C., Martin, J.-J., Martin, J.-J.

“…Codon 72 has been designated as a hot spot for distinct missense mutations in the peripheral myelin protein 22 (PMP22) gene. Ser72Leu substitution was…”
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Mitochondrial DNA Polymerase W748S Mutation: A Common Cause of Autosomal Recessive Ataxia with Ancient European Origin by Hakonen, Anna H., Heiskanen, Silja, Juvonen, Vesa, Lappalainen, Ilse, Luoma, Petri T., Rantamäki, Maria, Goethem, Gert Van, Löfgren, Ann, Hackman, Peter, Paetau, Anders, Kaakkola, Seppo, Majamaa, Kari, Varilo, Teppo, Udd, Bjarne, Kääriäinen, Helena, Bindoff, Laurence A., Suomalainen, Anu

“…Mutations in the catalytic subunit of the mitochondrial DNA polymerase γ (POLG) have been found to be an important cause of neurological disease. Recently, we…”
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Serum erythropoietin levels in elderly inpatients with anemia of chronic disorders and iron deficiency anemia by Joosten, E, Van Hove, L, Lesaffre, E, Goossens, W, Dereymaeker, L, Van Goethem, G, Pelemans, W

“…To analyze the relationship between serum erythropoietin levels and hemoglobin levels in elderly patients with anemia of chronic disorders related to cancer or…”
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