Zobrazeno 1 - 10
of 59
pro vyhledávání: '"Andrew, Makoff"'
Autor:
Andrew Makoff, Robert Robinson, Antonio Valentin, Laura Addis, Kate V. Everett, Lina Nashef, Deb K. Pal, Richard E. Rosch
Publikováno v:
Neurology: Genetics
Addis, L, Rosch, R E, Valentin, A, Makoff, A, Robinson, R, Everett, K V, Nashef, L & Pal, D K 2016, ' Analysis of rare copy number variation in absence epilepsies ', Neurology. Genetics, vol. 2, no. 2, e56 . https://doi.org/10.1212/NXG.0000000000000056
Addis, L, Rosch, R E, Valentin, A, Makoff, A, Robinson, R, Everett, K V, Nashef, L & Pal, D K 2016, ' Analysis of rare copy number variation in absence epilepsies ', Neurology. Genetics, vol. 2, no. 2, e56 . https://doi.org/10.1212/NXG.0000000000000056
OBJECTIVE: To identify shared genes and pathways between common absence epilepsy (AE) subtypes (childhood absence epilepsy [CAE], juvenile absence epilepsy [JAE], and unclassified absence epilepsy [UAE]) that may indicate common mechanisms for absenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b9e94fb72694fd7f81242fdca4b8b15a
Autor:
Andrew Makoff, Rachel H Flomen
Publikováno v:
Neuroscience Letters. 497:139-143
The astroglial EAAT2 glutamate transporter is essential for clearing glutamate in the central nervous system and protecting against excitotoxicity. It is implicated in amyotrophic lateral sclerosis (ALS, the most common type of motor neurone disease)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d87a9023d4834149b713a470c80e747
https://doi.org/10.1016/j.neulet.2011.04.047
https://doi.org/10.1016/j.neulet.2011.04.047
Autor:
Nick Moran, Catherine Barratt, Teck Lai, Philip Asherson, Lina Nashef, Antonio Valentin, Andrew Makoff
Publikováno v:
Epilepsia. 51:694-698
Summary We have investigated seven voltage-gated sodium channel genes for association with idiopathic generalized epilepsy (IGE). Probands and control DNA were grouped into pools and used to screen 85 single-nucleotide polymorphisms (SNPs), mostly Ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90f942fa2bbaac631d78e68b509a932d
https://doi.org/10.1111/j.1528-1167.2009.02473.x
https://doi.org/10.1111/j.1528-1167.2009.02473.x
A case report of a family with overlapping features of autosomal dominant febrile seizures and GEFS+
Publikováno v:
Epilepsia. 50:937-942
Familial febrile seizures occur in both generalized epilepsy with febrile seizures plus (GEFS+) and autosomal dominant febrile seizures (ADFS). The literature largely separates families with GEFS+ from those with ADFS. However, there is clinical over
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e1567625676398c861f45064c35e921
https://doi.org/10.1111/j.1528-1167.2008.01876.x
https://doi.org/10.1111/j.1528-1167.2008.01876.x
Autor:
Nicholas Moran, Leonora Fisniku, D McCormick, Lina Nashef, Neeti Hindocha, Phillip Asherson, Abeena Osei-Lah, Antonio Valentin, Andrew Makoff
Publikováno v:
Epilepsia. 48:2187-2190
In a cohort of 275 Caucasians with a broad IGE phenotype, patients with absences were classified. Criteria of the 1989 Commission on Classification of the International League Against Epilepsy for Childhood Absence Epilepsy (CAE 1989 criteria) were c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfb1eeb30c142f62ed60cd2caae90e5e
https://doi.org/10.1111/j.1528-1167.2007.01226.x
https://doi.org/10.1111/j.1528-1167.2007.01226.x
Autor:
Kenji J. Tsuchiya, B. P. Riley, Pak C. Sham, Yasuhide Iwata, Andrew Makoff, Genichi Sugihara, Mizuho Nakajima, Takeo Yoshikawa, Hitomi Takao, Norio Mori, Yoshimi Iwayama, Kazuhiko Nakamura, Nori Takei, Hideo Matsuzaki, Shiro Suda, Kazuo Yamada, Yoshimoto Sekine, David A. Collier, Ronald Y.L. Chen, Katsuaki Suzuki
Publikováno v:
Neuroscience Research. 57:194-202
Several previous studies have reported a significant linkage between markers in the alpha 7 nicotinic cholinergic receptor subunit ( CHRNA7 ) gene and either schizophrenia or the P50 sensory gating deficit, a schizophrenia endophenotype. However, CHR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63e4eb30271d12a8e854d08290fc4ce1
https://doi.org/10.1016/j.neures.2006.10.002
https://doi.org/10.1016/j.neures.2006.10.002
Autor:
Anna-Elina Lehesjoki, Olivier Dulac, Orvar Eeg-Olofsson, Andrew Makoff, Athanasios Covanis, Armin Heils, Françoise Goutières, Petra M.C. Callenbach, Jean Aicardi, Oebele F. Brouwer, Kate V. Everett, Marianne J. Kjeldsen, Rima Nabbout, Robert Robinson, Mark Gardiner, M Rees, Auli Siren, Paul M. McKeigue, Martha Feucht, Barry A. Chioza, Renzo Guerrini, M. L. Friis, Harald N. Aschauer, Thomas Sander, Nichole Taske, Ingrid Olsson
Publikováno v:
Everett, K V, Chioza, B, Aicardi, J, Aschauer, H, Brouwer, O, Callenbach, P, Covanis, A, Dulac, O, Eeg-Olofsson, O, Feucht, M, Friis, M, Goutieres, F, Guerrini, R, Heils, A, Kjeldsen, M, Lehesjoki, A-E, Makoff, A, Nabbout, R, Olsson, I, Sander, T, Sirén, A, McKeigue, P, Robinson, R, Taske, N, Rees, M & Gardiner, M 2007, ' Linkage and association analysis of CACNG3 in childhood absence epilepsy ', European Journal of Human Genetics, vol. 15, no. 4, pp. 463-72 . https://doi.org/10.1038/sj.ejhg.5201783
European Journal of Human Genetics, 15(4), 463-472. Nature Publishing Group
European Journal of Human Genetics, 15(4), 463-472. Nature Publishing Group
Udgivelsesdato: April Childhood absence epilepsy (CAE) is an idiopathic generalised epilepsy characterised by absence seizures manifested by transitory loss of awareness with 2.5-4 Hz spike-wave complexes on ictal EEG. A genetic component to aetiolog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::032771c89ce9145d79408f0bbc62dc6d
https://doi.org/10.1038/sj.ejhg.5201783
https://doi.org/10.1038/sj.ejhg.5201783
Autor:
David A. Collier, Andrew Makoff, Rachel H Flomen, Gerome Breen, Janet Munro, S Osborne, David St. Clair
Publikováno v:
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics. :571-575
Schizophrenia and bipolar disorder are major psychiatric diseases that have a strong genetic element. Markers in the vicinity of the CHRNA7 gene at 15q13-q14 have been linked with an endophenotype of schizophrenia, P50 sensory gating disorder, with s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f1eefc8b7590246f4b2802871c21b71
https://doi.org/10.1002/ajmg.b.30306
https://doi.org/10.1002/ajmg.b.30306
The –1438A/G polymorphism in the 5-hydroxytryptamine type 2A receptor gene affects promoter activity
Publikováno v:
Biological Psychiatry. 56:406-410
Background The –1438A/G single nucleotide polymorphism (SNP) lies just upstream of two alternative promoters for the 5-hydroxytryptamine type 2A (5-HT2A) receptor gene (HTR2A) and is in strong linkage disequilibrium with the 102T/C SNP. Both SNPs a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::909fbd4f184da3046290772f8e6c6867
https://doi.org/10.1016/j.biopsych.2004.06.020
https://doi.org/10.1016/j.biopsych.2004.06.020
Publikováno v:
Psychoneuroendocrinology. 29:423-447
Although the effects of antidepressants on glucocorticoid hormones and their receptors are relevant for the therapeutic action of these drugs, the molecular mechanisms underlying these effects are unclear. Studies in depressed patients, animals and c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::37626e61773d96ad2944ef2ab799eed5
https://doi.org/10.1016/j.psyneuen.2003.10.009
https://doi.org/10.1016/j.psyneuen.2003.10.009