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pro vyhledávání: '"C Ceuterick"'
Akademický článek
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Autor:
Anne-Catherine Connerotte, Emmanuel Scalais, Chantal C. Ceuterick-De Groote, Jean Pierre J.P. Hachem, Karine Despontin, Armand Biver, Linda De Meirleir, Marielle Alders, Athanassios Kolivras
Publikováno v:
American journal of medical genetics : part A
Shwachman-Diamond syndrome (SDS) is a recessive ribosomopathy, characterized by bone marrow failure and exocrine pancreatic insufficiency (ePI) often associated with neurodevelopmental and skeletal abnormalities. The aim of this report is to describe
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64102233e10b50a2eb726d52893b9ba3
https://biblio.vub.ac.be/vubir/shwachmandiamond-syndrome-presenting-with-early-ichthyosis-associated-dermal-and-epidermal-intracellular-lipid-droplets-hypoglycemia-and-later-distinctive-clinical-sds-phenotype(4e4413a1-e3df-4457-8466-4ee0036ca559).html
https://biblio.vub.ac.be/vubir/shwachmandiamond-syndrome-presenting-with-early-ichthyosis-associated-dermal-and-epidermal-intracellular-lipid-droplets-hypoglycemia-and-later-distinctive-clinical-sds-phenotype(4e4413a1-e3df-4457-8466-4ee0036ca559).html
Autor:
C. Ceuterick-de Groote, P. De Jonghe, V. Timmerman, G. Van Goethem, A. Löfgren, B. Ceulemans, C. Van Broeckhoven, J.-J. Martin
Publikováno v:
Pathology, research and practice
Codon 72 has been designated as a hot spot for distinct missense mutations in the peripheral myelin protein 22 (PMP22) gene. Ser72Leu substitution was associated with Dejerine-Sottas syndrome (DSS) in four patients and with congenital hypomyelination
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1791c182ac574d55e12658ee2ef5d69
https://doi.org/10.1078/0344-0338-00033
https://doi.org/10.1078/0344-0338-00033
Autor:
P. Cras, F. van Harskamp, L. Hendriks, C. Ceuterick, C. M. van Duijn, S. Z. Stefanko, A. Hofman, J. M. Kros, C. Van Broeckhoven, J. J. Martin
Publikováno v:
Acta Neuropathologica, 96, 253-260. Springer-Verlag
Acta neuropathologica
Acta neuropathologica
Mutations at codons 717 and 670/671 in the amyloid precursor protein (APP) are rare genetic causes of familial Alzheimer's disease (AD). A mutation at codon 693 of APP has also been described as the genetic defect in hereditary cerebral hemorrhage wi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a9921d2f2d658b39d27a609357bc236
https://doi.org/10.1007/s004010050892
https://doi.org/10.1007/s004010050892
Autor:
Jean-Jacques Martin, C. C. Tijssen, C. Ceuterick, Bernard Brais, B. Dreuw, B. Wein, Adolphe Neetens
Publikováno v:
Neuro-ophthalmology
Six OPMD families (one of five generations) confirm that the disease is autosomal dominant; mapping on chromosome 14 has been described. There is obvious anticipation of the cardinal symptoms ptosis and dysphagia. Hutchinson face is a hallmark of chr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::892e931054f3194d3b0bbd83be3de3f1
https://doi.org/10.3109/01658109709044665
https://doi.org/10.3109/01658109709044665
Autor:
J Hellinckx, Berten Ceulemans, C Ceuterick-de Groote, G Matthijs, I. Van Ingelghem, M Wojciechowski
Publikováno v:
European Journal of Paediatric Neurology. 17:S108-S109
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::48ece97df2fcd1a819832848161be07d
https://doi.org/10.1016/s1090-3798(13)70380-5
https://doi.org/10.1016/s1090-3798(13)70380-5
Autor:
A, Pou Serradell, J, Monells, M J, Téllez, P, Fossas, A, Löfgren, J, Meuleman, V, Timmerman, P, De Jonghe, C, Ceuterick, J J, Martin
Publikováno v:
Revue neurologique. 158(5 Pt 1)
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant inherited demyelinating neuropathy typically characterized by recurrent episodes of acute painless peripheral nerve palsies often preceded by minor trauma or com
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::69e2e67930364fe31211cb3afcf15f91
https://pubmed.ncbi.nlm.nih.gov/12072826
https://pubmed.ncbi.nlm.nih.gov/12072826
Publikováno v:
Neuro-ophthalmology
Open-angle glaucomatous disease (OAGD)-type field loss may run in families with optic neuropathy, ganglion cell damage, and normal hydrodynamics. Recently, patients have been observed with moderately elevated intraocular pressure (IOP) and an absence
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1712bfdd04932537ea1d66e0b977deaa
https://hdl.handle.net/10067/419970151162165141
https://hdl.handle.net/10067/419970151162165141
Autor:
Helene Verhelst, Linda De Meirleir, Sara Seneca, Chantal C. Ceuterick-De Groote, Françoise Meire, Willy Lissens, Rudy Van Coster
Publikováno v:
Vrije Universiteit Brussel
Archives of neurology
Archives of neurology
Objective To report on the molecular identification of a novel heteroplasmic G-to-A transition at mitochondrial DNA position 3249 in transfer RNA Leu gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome. Patient and Methods A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d700dea7f44e91a90fb13eb817904ce
https://biblio.vub.ac.be/vubir/a-new-mitochondrial-point-mutation-in-the-transfer-rnaleu-gene-in-a-patient-with-a-clinical-phenotype-resembling-kearnssayre-syndrome(74106e6c-d0e9-48dd-9dc1-7f998e435b95).html
https://biblio.vub.ac.be/vubir/a-new-mitochondrial-point-mutation-in-the-transfer-rnaleu-gene-in-a-patient-with-a-clinical-phenotype-resembling-kearnssayre-syndrome(74106e6c-d0e9-48dd-9dc1-7f998e435b95).html
Publikováno v:
Acta neurologica Belgica. 100(3)
We reviewed 355 nerve biopsies analysed at the Laboratories of Neuropathology of the Born-Bunge Foundation/University of Antwerp (BBF/UIA) and University of Liège (ULg) between 1987 and 1997. We examined the indications for nerve biopsy, the yield o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::b8be6f03587ad09308b1ce0c4737f6ab
https://pubmed.ncbi.nlm.nih.gov/11098289
https://pubmed.ncbi.nlm.nih.gov/11098289