Search Results - "Ivan Valkadinov"
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Tofersen decreases neurofilament levels supporting the pathogenesis of the SOD1 p.D91A variant in amyotrophic lateral sclerosis patients
Published in Communications medicine (25-07-2024)“…Background Since the antisense oligonucleotide tofersen has recently become available for the treatment of amyotrophic lateral sclerosis (ALS) caused by…”
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Quadruple genetic variants in a sporadic ALS patient
Published in Molecular genetics & genomic medicine (01-07-2022)“…Objectives Due to upcoming gene‐specific therapy approaches for ALS patients, understanding familial and sporadic ALS genetics is becoming increasingly…”
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Rare case of ameloblastoma with pulmonary metastases
Published in Intractable & Rare Diseases Research (01-08-2017)“…Ameloblastoma is a rare low-grade odontogenic tumor of epithelial origin. The World Health Organization (WHO) has defined malignant ameloblastoma (MA) as a…”
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Harmonic Shears in the Surgical Treatment of Laryngomalacia
Published in Curēus (Palo Alto, CA) (10-10-2019)“…IntroductionLaryngomalacia (LM) is a condition that is clinically diagnosed in the pediatric period with inspiratory stridor and is caused by a congenital or…”
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Clinical and patient‐reported outcomes and neurofilament response during tofersen treatment in SOD1‐related ALS—A multicenter observational study over 18months
Published in Muscle & nerve (01-09-2024)“…Introduction/AimsIn amyotrophic lateral sclerosis (ALS) caused by SOD1 mutations (SOD1‐ALS), tofersen received accelerated approval in the United States and is…”
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Clinical and patient‐reported outcomes and neurofilament response during tofersen treatment in SOD1‐related ALS—A multicenter observational study over 18 months
Published in Muscle & nerve (01-09-2024)“…Introduction/Aims In amyotrophic lateral sclerosis (ALS) caused by SOD1 mutations (SOD1‐ALS), tofersen received accelerated approval in the United States and…”
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Frequency of C9orf72 and SOD1 mutations in 302 sporadic ALS patients from three German ALS centers
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (03-07-2023)“…Background: ALS patients with a negative family history (sporadic ALS, SALS) represent more than 90% of all ALS cases. In light of the gene-specific therapies…”
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PSEN1/SLC20A2 double mutation causes early-onset Alzheimer’s disease and primary familial brain calcification co-morbidity
Published in Neurogenetics (01-07-2023)“…Primary familial brain calcification (PFBC; formerly Fahr’s disease) and early-onset Alzheimer’s disease (EOAD) may share partially overlapping pathogenic…”
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Effects of tofersen treatment in patients with SOD1-ALS in a “real-world” setting – a 12-month multicenter cohort study from the German early access program
Published in EClinicalMedicine (01-03-2024)“…In April 2023, the antisense oligonucleotide tofersen was approved by the U.S. Food and Drug Administration (FDA) for treatment of SOD1-amyotrophic lateral…”
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Effects of tofersen treatment in patients with SOD1-ALS in a “real-world” setting – a 12-month multicenter cohort study from the German early access programResearch in context
Published in EClinicalMedicine (01-03-2024)“…Background: In April 2023, the antisense oligonucleotide tofersen was approved by the U.S. Food and Drug Administration (FDA) for treatment of SOD1-amyotrophic…”
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Rare case of ameloblastoma with pulmonary metastases
Published in Intractable & rare diseases research (01-08-2017)Get full text
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