Nicholas Moschonas
Nicholas Moschonas
Professor, Medical Molec. Genetics, Medical School, UPatras & Affiliated Scientist, FORTH/ICE-HT
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Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy
JM Morante-Redolat, A Gorostidi-Pagola, S Piquer-Sirerol, A Sáenz, ...
Human molecular genetics 11 (9), 1119-1128, 2002
Beta + thalassemia: aberrant splicing results from a single point mutation in an intron
M Busslinger, N Moschonas, F RA
Cell 2 (1), 289-298, 1981
neuralized Encodes a Peripheral Membrane Protein Involved in Delta Signaling and Endocytosis
E Pavlopoulos, C Pitsouli, KM Klueg, MAT Muskavitch, NK Moschonas, ...
Developmental Cell 1 (6), 807-816, 2001
Autosomal dominant lateral temporal epilepsy: clinical spectrum, new epitempin mutations, and genetic heterogeneity in seven European families
R Michelucci, JJ Poza, V Sofia, MR Feo, S Binelli, F Bisulli, E Scudellaro, ...
Epilepsia 44 (10), 1289-1297, 2003
The Complete Maternal and Paternal Mitochondrial Genomes of the Mediterranean Mussel Mytilus galloprovincialis: Implications for the Doubly Uniparental …
A Mizi, E Zouros, N Moschonas, GC Rodakis
Molecular Biology and Evolution 22 (4), 952-967, 2005
The novel EPTP repeat defines a superfamily of proteins implicated in epileptic disorders
E Staub, J Pérez-Tur, R Siebert, C Nobile, NK Moschonas, P Deloukas, ...
Trends in biochemical sciences 27 (9), 441-444, 2002
Isolation and characterization of cDNA clones encoding human liver glutamate dehydrogenase: evidence for a small gene family
G Mavrothalassitis, G Tzimagiorgis, A Mitsialis, V Zannis, A Plaitakis, ...
Proceedings of the National Academy of Sciences 85 (10), 3494-3498, 1988
The DNA sequence and comparative analysis of human chromosome 10
P Deloukas, ME Earthrowl, DV Grafham, M Rubenfield, L French, ...
Nature 429 (6990), 375-381, 2004
Structure and expression of a cloned β° thalassaemic globin gene
N Moschonas, E De Boer, FG Grosveld, HHM Dahl, S Wright, ...
Nucleic acids research 9 (17), 4391-4402, 1981
The physical maps for sequencing human chromosomes 1, 6, 9, 10, 13, 20 and X
DR Bentley, P Deloukas, A Dunham, L French, SG Gregory, SJ Humphray, ...
Nature 409 (6822), 942-943, 2001
Nerve tissue‐specific human glutamate dehydrogenase that is thermolabile and highly regulated by ADP
P Shashidharan, DD Clarke, N Ahmed, N Moschonas, A Plaitakis
Journal of neurochemistry 68 (5), 1804-1811, 1997
The DNA sequence of the 5′ flanking region of the human 0-gk bin gene: evolutionary conservation and polymorphic differences
N Maschonas, E de Boer, RA Flavell
Nucleic acids research 10 (6), 2109-2120, 1982
The human glutamate dehydrogenase gene family: gene organization and structural characterization
TM Michaelidis, G Tzimagiorgis, NK Moschonas, J Papamatheakis
Genomics 16 (1), 150-160, 1993
Neuralized-like 1 (Neurl1) targeted to the plasma membrane by N-myristoylation regulates the Notch ligand Jagged1
E Koutelou, S Sato, C Tomomori-Sato, L Florens, SK Swanson, ...
Journal of Biological Chemistry 283 (7), 3846-3853, 2008
Isolation and characterization of a third isoform of human hepatocyte nuclear factor 4
AA Kritis, A Argyrokastritis, NK Moschonas, S Power, N Katrakili, VI Zannis, ...
Gene 173 (2), 275-280, 1996
Paleolithic Y-haplogroup heritage predominates in a Cretan highland plateau
L Martinez, PA Underhill, LA Zhivotovsky, T Gayden, NK Moschonas, ...
European Journal of Human Genetics 15 (4), 485-493, 2007
Folate-sensitive fragile site FRA10A is due to an expansion of a CGG repeat in a novel gene, FRA10AC1, encoding a nuclear protein
T Sarafidou, C Kahl, I Martinez-Garay, M Mangelsdorf, S Gesk, E Baker, ...
Genomics 84 (1), 69-81, 2004
Sequences located 3′ to the breakpoint of the hereditary persistence of fetal hemoglobin-3 deletion exhibit enhancer activity and can modify the developmental expression of …
NP Anagnou, C Perez-Stable, G Gelinas, C Costantini, L Liapaki, ...
Journal of Biological Chemistry 270 (17), 10256-10263, 1995
Report of the first international workshop on human chromosome 10 mapping 1995
NK Moschonas, NK Spurr, J Mao
Cytogenetic and Genome Research 72 (2-3), 99-112, 1996
Detection and incidence of cryptic Y chromosome sequences in Turner syndrome patients
PC Patsalis, C Sismani, MI Hadjimarcou, S Kitsiou‐Tzeli, A Tzezou, ...
Clinical genetics 53 (4), 249-257, 1998
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