Changes in pNFH Levels in Cerebrospinal Fluid and Motor Evolution after the Loading Dose with Nusinersen in Different Types of Spinal Muscular Atrophy

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

Clinical and Electrophysiological Changes in Pediatric Spinal Muscular Atrophy after 2 Years of Nusinersen Treatment

Autor: Mihaela Axente, Andrada Mirea, Corina Sporea, Liliana Pădure, Cristina Manuela Drăgoi, Alina Crenguța Nicolae, Daniela Adriana Ion

Publikováno v: Pharmaceutics, Vol 14, Iss 10, p 2074 (2022)

In the new therapeutic era, disease-modifying treatment (nusinersen) has changed the natural evolution of spinal muscular atrophy (SMA), creating new phenotypes. The main purpose of the retrospective observational study was to explore changes in clin

Externí odkaz: https://doaj.org/article/7e1bbeab40c049a1962becb6b7ff1c91

Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency

Autor: Mihaela Badina, Andrada Mirea, Liliana Padure, Daniela Adriana Ion, Mihaela Axente, Corina Sporea, Elena-Silvia Shelby

Publikováno v: Journal of Medicine and Life

Spinal muscular atrophy (SMA) is a spectrum of genetically and clinically heterogeneous diseases leading to the progressive degeneration of peripheric motor neurons with subsequent muscle weakness and atrophy. More than 95% of the cases of SMA are re

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9af30418c1c607d1efefb29cacc9dd5b
http://europepmc.org/articles/PMC8321613

Combination Therapy with Nusinersen and Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy Type I

Autor: Mihaela Badina, Madalina Cristina Leanca, Liliana Padure, Mihaela Axente, Vlad Dima, Elena-Silvia Shelby, Corina Sporea, Andrada Mirea

Publikováno v: Journal of Clinical Medicine; Volume 10; Issue 23; Pages: 5540
Journal of Clinical Medicine
Journal of Clinical Medicine, Vol 10, Iss 5540, p 5540 (2021)

Background: Spinal muscular atrophy (SMA) is a neuromuscular progressive disease, characterized by decreased amounts of survival motor neuron (SMN) protein, due to an autosomal recessive genetic defect. Despite recent research, there is still no cure

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17431605d8359ed44e7a59cb9e108161
https://doi.org/10.3390/jcm10235540

Le transport, entre nécessité et plaisir. Les perspectives d'ouverture des espaces touristiques de la Roumanie

Autor: Mihaela Axente

Publikováno v: Cahiers de Géographie
Transport et tourisme
Transport et tourisme, Sep 2006, Chambéry, France. pp.47-56

Mobility is one of our society s expectations. Transportation, in its evolution, answers to this aspect. In Romania, the new trend is characterised by transformations in the economical, political and social life. Transportation and tourism are two ec

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c96ae335fe83ccd00a1dc5149bf36cb
https://halshs.archives-ouvertes.fr/halshs-00476776