Zobrazeno 1 - 9 of 9 pro vyhledávání: '"Paraskewi Floroskufi"'
1
Four novel connexin 32 mutations in X-linked Charcot–Marie–Tooth disease. Phenotypic variability and central nervous system involvement
Autor: Karolina-Maria Karletidi, Georgia Karadima, Georgios Koutsis, Maria Raftopoulou, Marios Panas, Paraskewi Floroskufi
Publikováno v: Journal of the Neurological Sciences. 341:158-161
Charcot-Marie-Tooth (CMT) disease, the most common hereditary neuropathy, is clinically and genetically heterogeneous. X-linked CMT (CMTX) is usually caused by mutations in the gap junction protein b 1 gene (GJB1) coding for connexin 32 (Cx32). The c
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45710313aa51adbbedd95d23a05ee48b
https://doi.org/10.1016/j.jns.2014.04.007
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4
New mutation of theMPZ gene in a family with the Dejerine–Sottas disease phenotype
Autor: Georgia Karadima, Paraskewi Floroskufi, Demetris Vassilopoulos, Marios Panas
Publikováno v: Muscle & Nerve. 35:667-669
Charcot-Marie-Tooth disease type 1B is associated with mutations in the myelin protein zero gene. In the present study a new myelin protein zero gene mutation (c.89T>C,Ile30Thr) was detected in a family with the Dejerine-Sottas disease phenotype. The
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18c81c89f2dad2afc4325b260da1b09b
https://doi.org/10.1002/mus.20703
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5
The rs10492972 KIF1B polymorphism and disease progression in Greek patients with multiple sclerosis
Autor: Georgia Karadima, Marios Panas, Paraskewi Floroskufi, Georgios Koutsis, Constantinos Sfagos, Demetris Vassilopoulos
Publikováno v: Journal of neurology. 258(9)
A recent genome-wide association study (GWAS) demonstrated an association of the rs10492972[C] variant of KIF1B with multiple sclerosis (MS) [1]. KIF1B encodes a kinesin superfamily member involved in mitochondrial axonal transport and may influence
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::074c0e739defb4bd68edef0f5c93b74c
https://pubmed.ncbi.nlm.nih.gov/21424745
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7
Hereditary neuropathy with liability to pressure palsies emerging during vincristine treatment
Autor: N. Kokolakis, Marios Panas, Dimitris Vassilopoulos, Nikolaos Kalfakis, Paraskewi Floroskufi, Georgia Karadima
Publikováno v: Neurology. 59(9)
Vincristine treatment is often the cause of peripheral neuropathy, usually reversible after the discontinuation of treatment or dose reduction.1 There are several reports of acute neurotoxicity caused by the vincristine treatment of patients with her
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4a8aa1a83092854e9b55b5152ff66d58
https://pubmed.ncbi.nlm.nih.gov/12427913
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