Search Results - "Axente, Mihaela"

Time-Efficacy in SMA Type 1 and 2 Cases Treated with Nusinersen by Axente, Mihaela, Sporea, Corina, Mirea, Andrada, Burcea, Claudia-Camelia, Ion, Daniela Adriana

“…Spinal muscular atrophy is a neuromuscular degenerative disorder characterized by progressive apoptosis of motor neurons, with severe weakness and bulbar…”
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Changes in pNFH Levels in Cerebrospinal Fluid and Motor Evolution after the Loading Dose with Nusinersen in Different Types of Spinal Muscular Atrophy by Badina, Mihaela, Bejan, Gabriel Cristian, Sporea, Corina, Padure, Liliana, Mirea, Andrada, Leanca, Madalina-Cristina, Axente, Mihaela, Grigoras, Florin Petru, Bejan, Mihaela, Shelby, Elena-Silvia, Neagu, Elena, Ion, Daniela Adriana

“…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,…”
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Clinical and Electrophysiological Changes in Pediatric Spinal Muscular Atrophy after 2 Years of Nusinersen Treatment by Axente, Mihaela, Mirea, Andrada, Sporea, Corina, Pădure, Liliana, Drăgoi, Cristina Manuela, Nicolae, Alina Crenguța, Ion, Daniela Adriana

“…In the new therapeutic era, disease-modifying treatment (nusinersen) has changed the natural evolution of spinal muscular atrophy (SMA), creating new…”
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Combination Therapy with Nusinersen and Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy Type I by Mirea, Andrada, Shelby, Elena-Silvia, Axente, Mihaela, Badina, Mihaela, Padure, Liliana, Leanca, Madalina, Dima, Vlad, Sporea, Corina

“…Background: Spinal muscular atrophy (SMA) is a neuromuscular progressive disease, characterized by decreased amounts of survival motor neuron (SMN) protein,…”
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Time-Efficacy in SMA Type 1 and 2 Cases Treated with Nusinersen by Axente, Mihaela, Sporea, Corina, Mirea, Andrada, Burcea, Claudia-Camelia, Ion, Daniela Adriana

“…Spinal muscular atrophy is a neuromuscular degenerative disorder characterized by progressive apoptosis of motor neurons, with severe weakness and bulbar…”
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Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency by Axente, Mihaela, Shelby, Elena-Silvia, Mirea, Andrada, Sporea, Corina, Badina, Mihaela, Padure, Liliana, Ion, Daniela Adriana

“…Spinal muscular atrophy (SMA) is a spectrum of genetically and clinically heterogeneous diseases leading to the progressive degeneration of peripheric motor…”
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New VOUS in by SHELBY, Elena Silvia, LUPU, Onda Tabita, AXENTE, Mihaela, LEANCA, Madalina Cristina, BADINA, Mihaela, PADURE, Liliana, MIREA, Andrada, PELTTARI, Liisa M.

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New VOUS in by SHELBY, Elena Silvia, LUPU, Onda Tabita, AXENTE, Mihaela, LEANCA, Madalina Cristina, BADINA, Mihaela, PADURE, Liliana, MIREA, Andrada, PELTTARI, Liisa M.

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New VOUS in CASK Gene Correlating with the MICPCH Phenotype by Shelby, Elena Silvia, Lupu, Onda Tabita, Axente, Mihaela, Leanca, Madalina Cristina, Badina, Mihaela, Padure, Liliana, Mirea, Andrada, Pelttari, Liisa M

“…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,…”
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Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency by Axente, Mihaela, Shelby, Elena-Silvia, Mirea, Andrada, Sporea, Corina, Badina, Mihaela, Padure, Liliana, Ion, Daniela Adriana

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