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PubPharm (41)
1
A case report of riboflavin transporter deficiency : A novel heterozygous pathogenic variant in the SLC52A3 gene
enthalten in:
Molecular genetics and metabolism reports
| 2024
von
Tranel, E.
|
McGowan, B.
|
Drackley, A.
| +4
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2
Predicting outcomes for spinal muscular atrophy : When the diagnosis no longer means what it used to mean
enthalten in:
British journal of clinical pharmacology
| 2024
von
Toaz, E.
|
Pinto, N.
|
Rao, V.
| +1
CommentOn: Br J Clin Pharmacol. 2023 Aug;89(8):2465-2471. - PMID 36932845
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3
Efficacy and Safety of Vamorolone Over 48 Weeks in Boys With Duchenne Muscular Dystrophy : A Randomized Controlled Trial
enthalten in:
Neurology
| 2024
von
Dang, U.
|
Damsker, J.
|
Guglieri, M.
| +41
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4
Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16
enthalten in:
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
| 2024
von
Drackley, A.
|
De Simone, L.
|
Kuntz, N.
| +5
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5
Predicting outcomes for spinal muscular atrophy : When the diagnosis no longer means what it used to mean
enthalten in:
British Journal of Clinical Pharmacology
| 2024
von
Toaz, E.
|
Pinto, N.
|
Rao, V.
| +1
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6
Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16
enthalten in:
American journal of medical genetics. Part A
| 2024
von
Drackley, A.
|
De Simone, L.
|
Kuntz, N.
| +5
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7
Measuring the Efficacy of Thymectomy for Pediatric Myasthenia Gravis Across Tertiary Children's Hospitals
enthalten in:
Pediatric neurology
| 2023
von
De Boer, C.
|
Zeineddin, S.
|
Ott, K.
| +7
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8
Axonal polyneuropathy and ataxia in children : consider Perrault Syndrome, a case report
enthalten in:
BMC medical genomics
| 2023
von
Munson, H.
|
De Simone, L.
|
Schwaede, A.
| +5
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9
Axonal polyneuropathy and ataxia in children: consider Perrault Syndrome, a case report
enthalten in:
BMC medical genomics
| 2023
von
Munson, H.
|
De Simone, L.
|
Schwaede, A.
| +5
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10
Longitudinal Assessment of Timed Function Tests in Ambulatory Individuals with SMA Treated with Nusinersen
enthalten in:
Journal of neuromuscular diseases
| 2023
von
Krosschell, K.
|
Brown, L.
|
Hoffman, K.
| +9
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1
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1
Molecular & cellular proteomics : MCP
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Thema
22
Journal Article
6
Case Reports
6
Oligonucleotides
6
Research Support, Non-U.S. Gov't
5
Comment
4
Review
3
5Z9SP3X666
3
Duchenne muscular dystrophy
3
Dystrophin
3
Medulloblastoma
3
Pediatric
3
Research Support, U.S. Gov't, Non-P.H.S.
3
SXA7YP6EKX
3
Transcranial doppler
3
Vasospasm
3
nusinersen
3
viltolarsen
2
Ataxia
2
Auditory neuropathy/auditory synaptopathy
2
Axonal polyneuropathy
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Erscheinungszeitraum
25
2020-
13
2010-2019
3
2000-2009
Erscheinungsjahr(e)
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Englisch
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