Search Results - "Kontogeorgiou, Zoi"

Structural and functional brain changes in X-linked Charcot-Marie-Tooth disease: insights from a multimodal neuroimaging study by Karavasilis, Efstratios, Christidi, Foteini, Pantou, Eirini, Angelopoulou, Georgia, Kasselimis, Dimitrios, Breza, Marianthi, Kontogeorgiou, Zoi, Filippiadis, Dimitrios, Potagas, Constantin, Karadima, Georgia, Koutsis, Georgios, Velonakis, Georgios

“…Purpose Brain involvement in X-linked Charcot-Marie-Tooth disease (CMTX) has been previously reported. We studied the brain structural and functional integrity…”
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Data on eNOS T786 and G894T polymorphisms and peripheral blood eNOS mRNA levels in Sickle Cell Disease by Armenis, Iakovos, Kalotychou, Vassiliki, Tzanetea, Revekka, Kollia, Panagoula, Kontogeorgiou, Zoi, Anastasopoulou, Dimitra, Mantzourani, Marina, Samarkos, Michael, Pantos, Konstantinos, Konstantopoulos, Kostas, Rombos, Ioannis

“…In this article, we present data on endothelial Nitric Oxide Synthase (eNOS) gene T786C and G894T polymorphisms in Greek steady-state Sickle Cell Disease…”
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Biallelic RFC1 pentanucleotide repeat expansions in Greek patients with late‐onset ataxia by Kontogeorgiou, Zoi, Kartanou, Chrisoula, Tsirligkani, Chrysanthi, Anagnostou, Evangelos, Rentzos, Michail, Stefanis, Leonidas, Karadima, Georgia, Koutsis, Georgios

“…Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) has been recently linked to biallelic expansions of a pentanucleotide repeat in the…”
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Mutational screening of Greek patients with axonal Charcot‐Marie‐Tooth disease using targeted next‐generation sequencing: Clinical and molecular spectrum delineation by Kontogeorgiou, Zoi, Kartanou, Chrisoula, Rentzos, Michail, Kokotis, Panagiotis, Anagnostou, Evangelos, Zambelis, Thomas, Chroni, Elisabeth, Dinopoulos, Argyris, Panas, Marios, Koutsis, Georgios, Karadima, Georgia

“…Background and Aims Axonal forms of Charcot‐Marie‐Tooth disease (CMT) are classified as CMT2, distal hereditary motor neuropathy (dHMN) or hereditary sensory…”
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HINT1‐related neuropathy in Greek patients with Charcot‐Marie‐Tooth disease by Kontogeorgiou, Zoi, Voudommatis, Charalampos, Kartanou, Chrisoula, Pandis, Dionysis, Breza, Marianthi, Zambelis, Thomas, Stefanis, Leonidas, Panas, Marios, Koutsis, Georgios, Karadima, Georgia

“…Autosomal recessive axonal neuropathy with neuromyotonia (ARAN‐NM) is a rare hereditary neuropathy within the Charcot‐Marie‐Tooth disease (CMT) spectrum,…”
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Expanding the spectrum of C9ORF72-related neurodegenerative disorders in the Greek population by Kartanou, Chrisoula, Kontogeorgiou, Zoi, Rentzos, Michail, Potagas, Constantin, Aristeidou, Stavroula, Kapaki, Elisabeth, Paraskevas, George P, Constantinides, Vasilios C, Stefanis, Leonidas, Papageorgiou, Sokratis G, Houlden, Henry, Panas, Marios, Koutsis, Georgios, Karadima, Georgia

“…The C9ORF72 hexanucleotide repeat expansion is an established cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) and has also been…”
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Screening for SCA27B, CANVAS and other repeat expansion disorders in Greek patients with late-onset cerebellar ataxia suggests a need to update current diagnostic algorithms by Koutsis, Georgios, Kartanou, Chrisoula, Kontogeorgiou, Zoi, Koniari, Chrysoula, Mitrousias, Alexandros, Pellerin, David, Dicaire, Marie-Jose, Iruzubieta, Pablo, Danzi, Matt C., Athanassopoulos, Konstantinos, Ragazos, Nikolaos, Stamelou, Maria, Rentzos, Michail, Anagnostou, Evangelos, Zuchner, Stephan, Brais, Bernard, Houlden, Henry, Panas, Marios, Stefanis, Leonidas, Karadima, Georgia

“…Late-onset cerebellar ataxia (LOCA) is a slowly progressive cerebellar disorder with symptom onset ≥30years of age. Intronic tandem repeat expansions (TREs) in…”
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Mutational screening of the SH3TC2 gene in Greek patients with suspected demyelinating recessive Charcot‐Marie‐Tooth disease reveals a varied and unusual phenotypic spectrum by Kontogeorgiou, Zoi, Nikolaou, Katerina, Kartanou, Chrisoula, Breza, Marianthi, Panas, Marios, Karadima, Georgia, Koutsis, Georgios

“…Charcot‐Marie‐Tooth disease type 4 C (CMT4C) is an autosomal recessive form of demyelinating peripheral neuropathy caused by mutations in SH3TC2, characterized…”
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The FGF14 GAA repeat expansion in Greek patients with late‐onset cerebellar ataxia and an overview of the SCA27B phenotype across populations by Kartanou, Chrisoula, Mitrousias, Alexandros, Pellerin, David, Kontogeorgiou, Zoi, Iruzubieta, Pablo, Dicaire, Marie‐Josée, Danzi, Matt C., Koniari, Chrysoula, Athanassopoulos, Konstantinos, Panas, Marios, Stefanis, Leonidas, Zuchner, Stephan, Brais, Bernard, Houlden, Henry, Karadima, Georgia, Koutsis, Georgios

“…A pathogenic GAA repeat expansion in the first intron of the fibroblast growth factor 14 gene (FGF14) has been recently identified as the cause of…”
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Transthyretin (Pro24Ser) variant amyloidosis: A case report of the first patient in Greece by Panagiotopoulos, Ioannis, Papatheodorou, Efstathios, Anastasakis, Aris, Kastritis, Eustathios, Gourzi, Polyxeni, Kontogeorgiou, Zoi, Koutsis, Georgios, Karadima, Georgia, Koutelou, Maria

“…OBJECTIVETransthyretin cardiac amyloidosis (ATTR-CA) is a rare and potentially fatal disease caused by the accumulation of insoluble transthyretin (TTR)…”
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Variant transthyretin amyloidosis (ATTRv) polyneuropathy in Greece: a broad overview with a focus on non-endemic unexplored regions of the country by Koutsis, Georgios, Kastritis, Efstathios, Kontogeorgiou, Zoi, Kartanou, Chrisoula, Kokotis, Panagiotis, Rentzos, Michail, Breza, Marianthi, Kleopa, Kleopas A., Christodoulou, Kyproula, Oikonomou, Evangelos, Anastasakis, Aris, Angelidakis, Panagiotis, Sarmas, Ioannis, Kargiotis, Odysseas, Tzagournissakis, Minas, Zaganas, Ioannis, Foukarakis, Emmanouil, Sachpekidis, Vasileios, Papathoma, Alexandra, Panas, Marios, Stefanis, Leonidas, Dimopoulos, Meletios Athanasios, Karadima, Georgia

“…Comprehensive data on variant transthyretin amyloidosis polyneuropathy (ATTRv-PN) in Greece are lacking. We presently provide an overview of ATTRv-PN in…”
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Prognostic value of T786C and G894T eNOS polymorphisms in sickle cell disease by Armenis, Iakovos, Kalotychou, Vassiliki, Tzanetea, Revekka, Kollia, Panagoula, Kontogeorgiou, Zoi, Anastasopoulou, Dimitra, Mantzourani, Marina, Samarkos, Michael, Pantos, Konstantinos, Konstantopoulos, Kostas, Rombos, Ioannis

“…Endothelial Nitric Oxide Synthase (eNOS) is crucial for vascular homeostasis. Polymorphisms T786C and G894T affect eNOS regulation and have been related to…”
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Mutational screening of Greek patients with axonal Charcot-Marie-Tooth disease using targeted next-generation sequencing: Clinical and molecular spectrum delineation by Kontogeorgiou, Zoi, Kartanou, Chrisoula, Rentzos, Michail, Kokotis, Panagiotis, Anagnostou, Evangelos, Zambelis, Thomas, Chroni, Elisabeth, Dinopoulos, Argyris, Panas, Marios, Koutsis, Georgios, Karadima, Georgia

“…BACKGROUND AND AIMSAxonal forms of Charcot-Marie-Tooth disease (CMT) are classified as CMT2, distal hereditary motor neuropathy (dHMN) or hereditary sensory…”
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