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Alma Osmanovic

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Articles 44
Citations 723
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31.
Osmanovic A, Widjaja M, Forster A, Weder J, Wattjes M, Lange I, et al.
J Neurol . 2020 May; 267(9):2732-2743. PMID: 32447552
Amyotrophic lateral sclerosis (ALS) and hereditary spastic paraplegia (HSP) are motor neuron diseases sharing clinical, pathological, and genetic similarities. While biallelic SPG7 mutations are known to cause recessively inherited HSP,...
32.
Osmanovic A, Ranxha G, Kumpe M, Muschen L, Binz C, Wiehler F, et al.
J Neurol . 2020 May; 267(8):2398-2407. PMID: 32361837
Background: The antisense-oligonucleotide (ASO) nusinersen has recently been approved as the first genetically modifying therapy for 5q-associated spinal muscular atrophy (SMA) based on randomized sham-controlled trials in infants and children....
33.
Diekmann K, Kuzma-Kozakiewicz M, Piotrkiewicz M, Gromicho M, Grosskreutz J, Andersen P, et al.
J Neurol . 2020 Apr; 267(7):2130-2141. PMID: 32266542
Introduction: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease with loss of muscle function. The pathogenesis is still unclear and the heterogeneity of ALS phenotypes is huge. We investigated...
34.
Hagenacker T, Wurster C, GuNTHER R, Schreiber-Katz O, Osmanovic A, Petri S, et al.
Lancet Neurol . 2020 Mar; 19(4):317-325. PMID: 32199097
Background: Nusinersen is approved for the treatment of 5q spinal muscular atrophy of all types and stages in patients of all ages. Although clinical trials have shown improvements in motor...
35.
Grosse G, Bauer C, Kopp B, Schrader C, Osmanovic A
BMC Med Genet . 2020 Mar; 21(1):45. PMID: 32122354
Background: Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited neurological disorders. A growing number of genes, involved in glial and neuronal functions, have been associated with different subtypes...
36.
Wurster C, Steinacker P, GuNTHER R, Koch J, Lingor P, Uzelac Z, et al.
J Neurol . 2019 Sep; 267(1):36-44. PMID: 31552549
Objective: To determine the diagnostic and monitoring value of serum neurofilament light chain (NfL) in spinal muscular atrophy (SMA). Methods: We measured serum NfL in 46 SMA patients at baseline...
37.
Gingele S, Hummert M, Alvermann S, Jendretzky K, Bonig L, Brieskorn M, et al.
Front Neurol . 2019 Jul; 10:735. PMID: 31354609
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder characterized by degeneration of spinal motor neurons leading to muscular weakness. The antisense oligonucleotide nusinersen was approved for the treatment...
38.
Bursch F, Rath K, Sarikidi A, Boselt S, Kefalakes E, Osmanovic A, et al.
J Tissue Eng Regen Med . 2019 Feb; 13(4):649-663. PMID: 30811816
Cellular therapy represents a novel option for the treatment of neurodegenerative disorders such as amyotrophic lateral sclerosis (ALS). Its major aim is the generation of a protective environment for degenerating...
39.
Richter A, Hollstein R, Hebert E, Vulinovic F, Eckhold J, Osmanovic A, et al.
J Mol Neurosci . 2017 Mar; 62(1):11-16. PMID: 28299530
Mutations in the THAP1 gene encoding the transcription factor THAP1 have been shown to cause DYT6 dystonia. THAP1 contains a highly conserved THAP zinc finger at its N-terminal region which...
40.
Osmanovic A, Rangnau I, Kosfeld A, Abdulla S, Janssen C, Auber B, et al.
Eur J Hum Genet . 2017 Jan; 25(3):324-331. PMID: 28051077
We aimed to identify the genetic cause of the devastating neurodegenerative disease amyotrophic lateral sclerosis (ALS) in a German family with two affected individuals, and to assess the prevalence of...