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Akademický článek

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Shwachman-Diamond syndrome presenting with early ichthyosis, associated dermal and epidermal intracellular lipid droplets, hypoglycemia, and later distinctive clinical SDS phenotype

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

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Akademický článek

Expanding the genetic spectrum of hereditary motor sensory neuropathies in Pakistan.

Autor: Ahmed, Asif Naveed¹ (AUTHOR), Rawlins, Lettie E.^2,3 (AUTHOR) l.rawlins@exeter.ac.uk, Khan, Niamat¹ (AUTHOR), Jan, Zakir⁴ (AUTHOR), Ubeyratna, Nishanka² (AUTHOR), Voutsina, Nikol² (AUTHOR), Azeem, Arfa¹ (AUTHOR), Khan, Saadullah¹ (AUTHOR), Baple, Emma L.² (AUTHOR), Crosby, Andrew H.² (AUTHOR), Saleha, Shamim¹ (AUTHOR) shamimsaleha@yahoo.com

Publikováno v: BMC Neurology. 10/16/2024, Vol. 24 Issue 1, p1-11. 11p.

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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

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

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Infantile and juvenile presentations of Alexander's disease: a report of two cases

Autor: M, Deprez, M, D'Hooghe, J P, Misson, L, de Leval, C, Ceuterick, M, Reznik, J J, Martin, M, D'Hooge

Publikováno v: Acta neurologica Scandinavica

We describe 2 new cases of Alexander's disease, the first to be reported in Belgium. The first patient, a 4-year-old girl, presented with progressive megalencephaly, mental retardation, spastic tetraparesis, ataxia and epilepsy: post-mortem examinati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7841ccb16086f549a105db3051dcb609
https://doi.org/10.1111/j.1600-0404.1999.tb07338.x

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Presenile Alzheimer dementia characterized by amyloid angiopathy and large amyloid core type senile plaques in the APP 692Ala→Gly mutation

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

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

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Oculopharyngeal muscular dystrophy (OPMD)

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

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P201 – 1718 Twins with remarkable stereotypical hand movements

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

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Neuropathology of some hereditary conditions affecting central and peripheral nervous system

Autor: J J, Martin, C, Ceuterick

Publikováno v: Acta neurologica Belgica. 102(1)

Neuropathology plays a crucial role in the phenotypic individualization of hereditary disorders affecting the central and peripheral nervous system even if molecular genetics represents the most essential step in describing the genotypes. The neuropa

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::9a1194b488e2b671ccb6bc7245cf6354
https://pubmed.ncbi.nlm.nih.gov/12094560

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