Prati
Sebahattin Cirak
Sebahattin Cirak
Professor, Uniklinikum Ulm, Klinik für Kinder- und Jugendmedizin, Sozialpädiatrisches Zentrum
Potvrđena adresa e-pošte na uniklinik-ulm.de
Naslov
Citirano
Citirano
Godina
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1
DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ...
autophagy 17 (1), 1-382, 2021
106792021
Exon skipping and dystrophin restoration in patients with Duchenne muscular dystrophy after systemic phosphorodiamidate morpholino oligomer treatment: an open-label, phase 2 …
S Cirak, V Arechavala-Gomeza, M Guglieri, L Feng, S Torelli, K Anthony, ...
The Lancet 378 (9791), 595-605, 2011
11552011
The UK10K project identifies rare variants in health and disease
Statistics group Ciampi Antonio 8 Greenwood Celia MT (co-chair) 7 8 14 19 ...
Nature 526 (7571), 82-90, 2015
10952015
Local restoration of dystrophin expression with the morpholino oligomer AVI-4658 in Duchenne muscular dystrophy: a single-blind, placebo-controlled, dose-escalation, proof-of …
M Kinali, V Arechavala-Gomeza, L Feng, S Cirak, D Hunt, C Adkin, ...
The Lancet Neurology 8 (10), 918-928, 2009
8802009
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
J Huang, B Howie, S McCarthy, Y Memari, K Walter, JL Min, P Danecek, ...
Nature communications 6 (1), 8111, 2015
4132015
Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry
H Olbrich, M Schmidts, C Werner, A Onoufriadis, NT Loges, J Raidt, ...
The American Journal of Human Genetics 91 (4), 672-684, 2012
3272012
Mutations in NSUN2 cause autosomal-recessive intellectual disability
L Abbasi-Moheb, S Mertel, M Gonsior, L Nouri-Vahid, K Kahrizi, S Cirak, ...
The American Journal of Human Genetics 90 (5), 847-855, 2012
2852012
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
K Boldt, J Van Reeuwijk, Q Lu, K Koutroumpas, TMT Nguyen, Y Texier, ...
Nature communications 7 (1), 11491, 2016
2472016
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome
AG Bassuk, RH Wallace, A Buhr, AR Buller, Z Afawi, M Shimojo, S Miyata, ...
The American Journal of Human Genetics 83 (5), 572-581, 2008
2462008
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan
KJ Carss, E Stevens, AR Foley, S Cirak, M Riemersma, S Torelli, ...
The American Journal of Human Genetics 93 (1), 29-41, 2013
2452013
ISPD loss-of-function mutations disrupt dystroglycan O-mannosylation and cause Walker-Warburg syndrome
T Willer, H Lee, M Lommel, T Yoshida-Moriguchi, DBV De Bernabe, ...
Nature genetics 44 (5), 575-580, 2012
2402012
Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan
E Stevens, KJ Carss, S Cirak, AR Foley, S Torelli, T Willer, DE Tambunan, ...
The American Journal of Human Genetics 92 (3), 354-365, 2013
1932013
Dystromirs as serum biomarkers for monitoring the disease severity in Duchenne muscular Dystrophy
IT Zaharieva, M Calissano, M Scoto, M Preston, S Cirak, L Feng, J Collins, ...
PloS one 8 (11), e80263, 2013
1662013
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
M Baumann, C Giunta, B Krabichler, F Rüschendorf, N Zoppi, M Colombi, ...
The American Journal of Human Genetics 90 (2), 201-216, 2012
1652012
Muscle histology vs MRI in Duchenne muscular dystrophy
M Kinali, V Arechavala-Gomeza, S Cirak, A Glover, M Guglieri, L Feng, ...
Neurology 76 (4), 346-353, 2011
1632011
Dystrophin quantification and clinical correlations in Becker muscular dystrophy: implications for clinical trials
K Anthony, S Cirak, S Torelli, G Tasca, L Feng, V Arechavala-Gomeza, ...
Brain 134 (12), 3547-3559, 2011
1622011
DMD genotypes and loss of ambulation in the CINRG Duchenne Natural History Study
L Bello, LP Morgenroth, H Gordish-Dressman, EP Hoffman, ...
Neurology 87 (4), 401-409, 2016
1572016
Congenital myopathies–clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom
L Maggi, M Scoto, S Cirak, SA Robb, A Klein, S Lillis, T Cullup, L Feng, ...
Neuromuscular Disorders 23 (3), 195-205, 2013
1552013
Restoration of the dystrophin-associated glycoprotein complex after exon skipping therapy in Duchenne muscular dystrophy
S Cirak, L Feng, K Anthony, V Arechavala-Gomeza, S Torelli, C Sewry, ...
Molecular Therapy 20 (2), 462-467, 2012
1492012
What can we learn from clinical trials of exon skipping for DMD?
Q Lu, S Cirak, T Partridge
Molecular Therapy-Nucleic Acids 3, 2014
1432014
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