Zobrazeno 1 - 10
of 11
pro vyhledávání: '"Madalina-Cristina Leanca"'
Autor:
Mihaela Badina, Gabriel Cristian Bejan, Corina Sporea, Liliana Padure, Andrada Mirea, Madalina-Cristina Leanca, Mihaela Axente, Florin Petru Grigoras, Mihaela Bejan, Elena-Silvia Shelby, Elena Neagu, Daniela Adriana Ion
Publikováno v:
Medicina, Vol 59, Iss 7, p 1244 (2023)
Aim and Objectives: The objective of our retrospective study was to investigate the changes in pNFH levels in cerebrospinal fluid, which is a reliable marker of neuronal damage, after the loading dose of nusinersen in different types of spinal muscul
Externí odkaz:
https://doaj.org/article/2d344ba3795346caa58a3b91f94028ef
Publikováno v:
Romanian Journal of Pediatrics, Vol 71, Iss 1, Pp 39-46 (2022)
Joubert syndrome is a genetic disease with an autosomal-recessive or X-linked inheritance pattern caused by pathogenic variants in at least 35 genes, all encoding structures of the primary cilium involved in signaling pathways that coordinate the nor
Externí odkaz:
https://doaj.org/article/07627fab7021484c96202099da0625f9
Publikováno v:
Romanian Journal of Pediatrics, Vol 69, Iss 4, Pp 354-357 (2020)
Introduction. Ehlers Danlos syndrome is a group of hereditary diseases of the connective tissue with a combined prevalence of 1 in 5,000 cases which have in common articular hyperlaxity and skin abnormalities. In some types, rapid diagnosis can mean
Externí odkaz:
https://doaj.org/article/2cbfeca9a8fe4f5daf31f17b854cf531
Autor:
Andrada Mirea, Madalina Cristina Leanca, Gelu Onose, Corina Sporea, Liliana Padure, Elena-Silvia Shelby, Vlad Dima, Cristina Daia
Publikováno v:
Frontiers in Bioscience-Landmark, Vol 27, Iss 6, p 179 (2022)
Introduction: Spinal muscular atrophy (SMA) is a progressive neurological disease with autosomal recessive transmission that affects motor neurons, causing their loss and resulting in muscle waste and motor deficiency. Nusinersen, the first SMN2 pre-
Externí odkaz:
https://doaj.org/article/de962b887fe24569a8713b5fa61ae5d6
Autor:
Ion, Mihaela Badina, Gabriel Cristian Bejan, Corina Sporea, Liliana Padure, Andrada Mirea, Madalina-Cristina Leanca, Mihaela Axente, Florin Petru Grigoras, Mihaela Bejan, Elena-Silvia Shelby, Elena Neagu, Daniela Adriana
Publikováno v:
Medicina; Volume 59; Issue 7; Pages: 1244
Aim and Objectives: The objective of our retrospective study was to investigate the changes in pNFH levels in cerebrospinal fluid, which is a reliable marker of neuronal damage, after the loading dose of nusinersen in different types of spinal muscul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=multidiscipl::ea06f5f74ad41840c4140b54201137ce
Autor:
Florina Mihaela Nedelea, Pharmacy, Bucharest, Romania, Elena-Silvia Shelby, Mihaela Badina, Gynaecology, Bucharest, Romania, Madalina Cristina Leanca, Nadejda Barladeanu, Georgeta Cardos, Tanser Huseyinoglu, Andrada Mirea, Liliana Padure
Publikováno v:
Romanian Journal of Medical Practice, Vol 16, Iss 1, Pp 92-96 (2021)
1q44 microdeletion syndrome (1q44 monosomy) is a newly described genetic syndrome characterized by the haploinsufficiency of a 6 Mb locus on the long arm of chromosome 1. The main features are global developmental delay, seizures, hypotonia and crani
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dfb83d25d4bfc9d3755beeda873734cd
https://doi.org/10.37897/rjmp.2021.1.16
https://doi.org/10.37897/rjmp.2021.1.16
Autor:
Madalina Cristina Leanca, Andrada Mirea, Serban Hamei, Elena Silvia Shelby, Pharmacy, Bucharest, Romania, Liliana Padure
Publikováno v:
Romanian Journal of Pediatrics, Vol 69, Iss 4, Pp 354-357 (2020)
Introduction. Ehlers Danlos syndrome is a group of hereditary diseases of the connective tissue with a combined prevalence of 1 in 5,000 cases which have in common articular hyperlaxity and skin abnormalities. In some types, rapid diagnosis can mean
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::105f4e9cc346a7471d9c4cf6e5ee985e
https://doi.org/10.37897/rjp.2020.4.17
https://doi.org/10.37897/rjp.2020.4.17
Autor:
Madalina Cristina Leanca, Șerban Hamei, Andrada Mirea, Elena Silvia Shelby, Universitatea de Medicină şi Farmacie „Carol Davila', București, România, Liliana Padure, Spitalul Clinic de Copii „Marie Skodlowska Curie', Bucureşti, România
Publikováno v:
Romanian Journal of Pediatrics, Vol 69, Iss 4, Pp 358-361 (2020)
Introducere. Sindromul Ehlers Danlos reprezintă un grup de boli ereditare ale țesutului conjunctiv, cu o prevalență combinată de 1 la 5.000 de cazuri ce au în comun hiperlaxitate articulară și anomalii ale pielii. În unele tipuri, diagnostic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ac7861d07c7809bc6630732b38205e3
https://rjp.com.ro/articles/2020.4/RJP_2020_4_RO_Art-18.pdf
https://rjp.com.ro/articles/2020.4/RJP_2020_4_RO_Art-18.pdf
Autor:
Cristina Daia, Vlad Dima, Elena-Silvia Shelby, Liliana Padure, Corina Sporea, Gelu Onose, Madalina Cristina Leanca, Andrada Mirea
Publikováno v:
Frontiers in bioscience (Landmark edition). 27(6)
Spinal muscular atrophy (SMA) is a progressive neurological disease with autosomal recessive transmission that affects motor neurons, causing their loss and resulting in muscle waste and motor deficiency. Nusinersen, the first SMN2 pre-mRNA targeted
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::41e303d64c9411940e0fa2af84e587d6
https://pubmed.ncbi.nlm.nih.gov/35748255
https://pubmed.ncbi.nlm.nih.gov/35748255
Autor:
Elena Silvia, Shelby, Onda Tabita, Lupu, Mihaela, Axente, Madalina Cristina, Leanca, Mihaela, Badina, Liliana, Padure, Andrada, Mirea, Liisa M, Pelttari
Publikováno v:
Maedica (Bucur)
We present the case of a three-year-old girl with normal family history who was admitted to our hospital for medical recovery. The patient had microcephaly, pontocerebellar hypoplasia, slight facial dysmorphism, axial hypotonia, epileptic seizures, a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::ec93accb6878983849fc78a8c7c24c86
https://pubmed.ncbi.nlm.nih.gov/34221169
https://pubmed.ncbi.nlm.nih.gov/34221169