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Annemieke Aartsma-Rus
Annemieke Aartsma-Rus
Hoogleraar translationele genetica, Leids Universitair Medisch Centrum
在 lumc.nl 的电子邮件经过验证 - 首页
标题
引用次数
引用次数
年份
Local dystrophin restoration with antisense oligonucleotide PRO051
JC Van Deutekom, AA Janson, IB Ginjaar, WS Frankhuizen, ...
New England Journal of Medicine 357 (26), 2677-2686, 2007
10622007
Systemic administration of PRO051 in Duchenne's muscular dystrophy
NM Goemans, M Tulinius, JT van den Akker, BE Burm, PF Ekhart, ...
New England Journal of Medicine 364 (16), 1513-1522, 2011
9092011
Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading‐frame rule
A Aartsma‐Rus, JCT Van Deutekom, IF Fokkema, GJB Van Ommen, ...
Muscle & Nerve: Official Journal of the American Association of …, 2006
7982006
The TREAT‐NMD DMD Global Database: analysis of more than 7,000 Duchenne muscular dystrophy mutations
CL Bladen, D Salgado, S Monges, ME Foncuberta, K Kekou, K Kosma, ...
Human mutation 36 (4), 395-402, 2015
7202015
Theoretic applicability of antisense‐mediated exon skipping for Duchenne muscular dystrophy mutations
A Aartsma‐Rus, I Fokkema, J Verschuuren, I Ginjaar, J Van Deutekom, ...
Human mutation 30 (3), 293-299, 2009
7132009
Duchenne muscular dystrophy
D Duan, N Goemans, S Takeda, E Mercuri, A Aartsma-Rus
Nature Reviews Disease Primers 7 (1), 13, 2021
7102021
Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2
RJLF Lemmers, R Tawil, LM Petek, J Balog, GJ Block, GWE Santen, ...
Nature genetics 44 (12), 1370-1374, 2012
6562012
Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy–a literature review
IEC Verhaart, A Robertson, IJ Wilson, A Aartsma-Rus, S Cameron, ...
Orphanet journal of rare diseases 12, 1-15, 2017
6272017
The importance of genetic diagnosis for Duchenne muscular dystrophy
A Aartsma-Rus, IB Ginjaar, K Bushby
Journal of medical genetics 53 (3), 145-151, 2016
4112016
Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients
A Aartsma-Rus, AAM Janson, WE Kaman, M Bremmer-Bout, ...
Human Molecular Genetics 12 (8), 907-914, 2003
3802003
Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more sense
A Aartsma-Rus, AAM Janson, WE Kaman, M Bremmer-Bout, ...
The American Journal of Human Genetics 74 (1), 83-92, 2004
3762004
FDA approves eteplirsen for Duchenne muscular dystrophy: the next chapter in the eteplirsen saga
A Aartsma-Rus, AM Krieg
Nucleic acid therapeutics 27 (1), 1-3, 2017
3662017
Therapeutic developments for Duchenne muscular dystrophy
IEC Verhaart, A Aartsma-Rus
Nature Reviews Neurology 15 (7), 373-386, 2019
3412019
Antisense-mediated exon skipping: a versatile tool with therapeutic and research applications
A Aartsma-Rus, GJB Van Ommen
Rna 13 (10), 1609-1624, 2007
3382007
Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy
A Aartsma-Rus, M Bremmer-Bout, AAM Janson, JT den Dunnen, ...
Neuromuscular Disorders 12, S71-S77, 2002
3292002
The pathogenesis and therapy of muscular dystrophies
S Guiraud, A Aartsma-Rus, NM Vieira, KE Davies, GJB van Ommen, ...
Annual review of genomics and human genetics 16 (1), 281-308, 2015
3142015
In vivo comparison of 2′‐O‐methyl phosphorothioate and morpholino antisense oligonucleotides for Duchenne muscular dystrophy exon skipping
HA Heemskerk, CL de Winter, SJ de Kimpe, P van Kuik‐Romeijn, ...
The Journal of Gene Medicine: A cross‐disciplinary journal for research on …, 2009
2772009
Current status of pharmaceutical and genetic therapeutic approaches to treat DMD
C Pichavant, A Aartsma-Rus, PR Clemens, KE Davies, G Dickson, ...
Molecular Therapy 19 (5), 830-840, 2011
2652011
Comparative analysis of antisense oligonucleotide sequences for targeted skipping of exon 51 during dystrophin pre-mRNA splicing in human muscle
V Arechavala-Gomeza, IR Graham, LJ Popplewell, AM Adams, ...
Human gene therapy 18 (9), 798-810, 2007
2522007
Assessing functional performance in the mdx mouse model
A Aartsma-Rus, M van Putten
JoVE (Journal of Visualized Experiments), e51303, 2014
2362014
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