Zobrazeno 1 - 5 of 5 pro vyhledávání: '"E H, van den Boogerd"'
1
Refinement of the chromosome 16 locus for benign familial infantile convulsions
Autor: Rune R. Frants, R ten Houten, Gerard Hageman, Rfm de Coo, Oebele F. Brouwer, E. H. van den Boogerd, P. M. Callenbach, Jan C. Oosterwijk, Amjm van den Maagdenberg
Publikováno v: Clinical Genetics. 67:517-525
Benign familial infantile convulsions (BFIC) is an autosomal dominantly inherited partial epilepsy syndrome of early childhood with remission before the age of 3 years. The syndrome has been linked to loci on chromosomes 1q23, 2q24, 16p12-q12, and 19
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::945d37e58a5c901abe831a2c37cc204b
https://doi.org/10.1111/j.1399-0004.2005.00445.x
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2
Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine
Autor: B. B. A. de Vries, Rune R. Frants, Jan B. Koenderink, G.M. Terwindt, Michael Pusch, Martin Dichgans, J. J. M. W. van den Heuvel, A.M.J.M. van den Maagdenberg, M. D. Ferrari, K R J Vanmolkot, Joost Haan, E. H. van den Boogerd, AH Stam, T. Freilinger, Elena Babini
Publikováno v: Neurology, 69, 2170-6
Neurology, 69, 23, pp. 2170-6
Neurology 69 (2007): 2170–2176. doi:10.1212/01.wnl.0000295670.01629.5a
info:cnr-pdr/source/autori:Boukje de Vries; Tobias Freilinger; Kaate R.J. Vanmolkot; Jan B. Koenderink; Anine H. Stam; Gisela M. Terwindt; Elena Babini; Eelke H. van den Boogerd; Jeroen J.M.W. van den Heuvel; Rune R. Frants; Joost Haan; Michael Pusch; Arn M.J.M. van den Maagdenberg; Michel D. Ferrari; Martin Dichgans/titolo:Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine/doi:10.1212%2F01.wnl.0000295670.01629.5a/rivista:Neurology/anno:2007/pagina_da:2170/pagina_a:2176/intervallo_pagine:2170–2176/volume:69
Background: Familial (FHM) and sporadic (SHM) hemiplegic migraine are severe subtypes of migraine associated with transient hemiparesis. For FHM, three genes have been identified encoding subunits of a calcium channel (CACNA1A), a sodium–potassium
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43bbac51a840baea029eceae2fbf1775
http://hdl.handle.net/2066/52271
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3
Severe episodic neurological deficits and permanent mental retardation in a child with a novel FHM2 ATP1A2 mutation
Autor: Rune R. Frants, E. H. van den Boogerd, J. J. M. W. van den Heuvel, Jan B. Koenderink, A.M.J.M. van den Maagdenberg, Anine H. Stam, B. B. A. De Vries, H Stroink, E. E. Kors, Michel D. Ferrari, Joost Haan, K R J Vanmolkot, Gisela M. Terwindt
Publikováno v: Annals of Neurology, 59, 310-4
Annals of Neurology, 59, 2, pp. 310-4
Objective Attacks of familial hemiplegic migraine (FHM) are usually associated with transient, completely reversible symptoms. Here, we studied the ATP1A2 FHM2 gene in a young girl with episodes of both very severe and transient neurological symptoms
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f770173220c6727847d556570df4bcf
http://hdl.handle.net/2066/49308
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4
Refinement of the chromosome 16 locus for benign familial infantile convulsions
Autor: P M C, Callenbach, E H, van den Boogerd, R F M, de Coo, R, ten Houten, J C, Oosterwijk, G, Hageman, R R, Frants, O F, Brouwer, A M J M, van den Maagdenberg
Publikováno v: Clinical genetics. 67(6)
Benign familial infantile convulsions (BFIC) is an autosomal dominantly inherited partial epilepsy syndrome of early childhood with remission before the age of 3 years. The syndrome has been linked to loci on chromosomes 1q23, 2q24, 16p12-q12, and 19
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::a42d3757c54ff2cc20006bb5a1c920f6
https://pubmed.ncbi.nlm.nih.gov/15857419
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