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PubPharm (16)
1
Type I spinal muscular atrophy patients treated with nusinersen : 4-year follow-up of motor, respiratory and bulbar function
enthalten in:
European journal of neurology
| 2023
von
Pane, M.
|
Coratti, G.
|
Sansone, V.
| +31
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2
Safety and efficacy of risdiplam in patients with type 1 spinal muscular atrophy (FIREFISH part 2) : secondary analyses from an open-label trial
enthalten in:
The Lancet. Neurology
| 2022
von
Masson, R.
|
Mazurkiewicz-Bełdzińska, M.
|
Rose, K.
| +120
CommentIn: Lancet Neurol. 2022 Dec;21(12):1065-1066. - PMID 36244363
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3
Long-Term Safety and Efficacy Data of Golodirsen in Ambulatory Patients with Duchenne Muscular Dystrophy Amenable to Exon 53 Skipping : A First-in-human, Multicenter, Two-Part, Open-Label, Phase 1/2 Trial
enthalten in:
Nucleic acid therapeutics
| 2022
von
Servais, L.
|
Mercuri, E.
|
Straub, V.
| +29
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4
Type I SMA "new natural history" : long-term data in nusinersen-treated patients
enthalten in:
Annals of clinical and translational neurology
| 2021
von
Pane, M.
|
Coratti, G.
|
Sansone, V.
| +24
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5
Sometimes they come back : New and old spinal muscular atrophy adults in the era of nusinersen
enthalten in:
European journal of neurology
| 2021
von
Sansone, V.
|
Coratti, G.
|
Pera, M.
| +38
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6
Increased dystrophin production with golodirsen in patients with Duchenne muscular dystrophy
enthalten in:
Neurology
| 2020
von
Frank, D.
|
Schnell, F.
|
Akana, C.
| +29
ErratumIn: Neurology. 2023 May 9;100(19):936. - PMID 37156629
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7
Development of an academic disease registry for spinal muscular atrophy
enthalten in:
Neuromuscular disorders : NMD
| 2019
von
Mercuri, E.
|
Finkel, R.
|
Scoto, M.
| +34
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8
An observational study of functional abilities in infants, children, and adults with type 1 SMA
enthalten in:
Neurology
| 2018
von
Pane, M.
|
Palermo, C.
|
Messina, S.
| +72
CommentIn: Neurology. 2018 Aug 21;91(8):337-339. - PMID 30045956
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9
Clinical phenotypes and trajectories of disease progression in type 1 spinal muscular atrophy
enthalten in:
Neuromuscular disorders : NMD
| 2018
von
De Sanctis, R.
|
Pane, M.
|
Coratti, G.
| +11
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10
A complex phenotype in a child with familial HDL deficiency due to a novel frameshift mutation in APOA1 gene (apoA-IGuastalla)
enthalten in:
Journal of clinical lipidology
| 2015
von
Pisciotta, L.
|
Vitali, C.
|
Favari, E.
| +8
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Thema: Research Support, Non-U.S. Gov't
Medienart
16
Aufsätze
15
E-Artikel
15
E-Ressourcen
1
Gedruckte Aufsätze
Zeitschriftentitel
2
European journal of neurology
2
Medical teacher
2
Neurology
2
Neuromuscular disorders : NMD
1
American journal of medical genetics. Part A
1
Annals of clinical and translational neurology
1
Clinical biochemistry
1
Early human development
1
Journal of clinical lipidology
1
Nucleic acid therapeutics
1
The Journal of pediatrics
1
The Lancet. Neurology
Alle anzeigen ...
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Thema
16
Journal Article
Research Support, Non-U.S. Gov't
6
Oligonucleotides
4
5Z9SP3X666
4
Multicenter Study
4
nusinersen
3
Randomized Controlled Trial
2
033072U4MZ
2
Clinical Trial, Phase I
2
Clinical Trial, Phase II
2
Comparative Study
2
Dystrophin
2
Neuromuscular disorders
2
SMN2 protein, human
2
Survival of Motor Neuron 2 Protein
2
golodirsen
2
spinal muscular atrophy
1
76RS4S2ET1
1
9034-63-3
1
97C5T2UQ7J
Alle anzeigen ...
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Erscheinungszeitraum
6
2020-
8
2010-2019
2
2000-2009
Erscheinungsjahr(e)
Von:
Bis:
Sprache
16
Englisch
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