Neuhoff K, Kilicarslan O, Preusse C, Zaum A, Kolbel H, Lochmuller H
Biomedicines. 2025; 12(12.
PMID: 39767645
PMC: 11727156.
DOI: 10.3390/biomedicines12122738.
Tong Y, Geng C, Guan Y, Zhao Y, Ren H, Yao F
Front Neurol. 2020; 11:572006.
PMID: 33101180
PMC: 7554367.
DOI: 10.3389/fneur.2020.572006.
Kawaguchi T, Niba E, Rani A, Onishi Y, Koizumi M, Awano H
Int J Mol Sci. 2018; 19(6).
PMID: 29789502
PMC: 6032138.
DOI: 10.3390/ijms19061546.
Niba E, Yamanaka R, Rani A, Awano H, Matsumoto M, Nishio H
Cancer Cell Int. 2017; 17:58.
PMID: 28546788
PMC: 5442858.
DOI: 10.1186/s12935-017-0428-4.
Nishida A, Yasuno S, Takeuchi A, Awano H, Lee T, Niba E
Histochem Cell Biol. 2016; 146(3):301-9.
PMID: 27109495
DOI: 10.1007/s00418-016-1439-2.
Deletion of Dystrophin In-Frame Exon 5 Leads to a Severe Phenotype: Guidance for Exon Skipping Strategies.
Toh Z, Aung-Htut M, Pinniger G, Adams A, Krishnaswarmy S, Wong B
PLoS One. 2016; 11(1):e0145620.
PMID: 26745801
PMC: 4706350.
DOI: 10.1371/journal.pone.0145620.
Neuronal SH-SY5Y cells use the C-dystrophin promoter coupled with exon 78 skipping and display multiple patterns of alternative splicing including two intronic insertion events.
Nishida A, Minegishi M, Takeuchi A, Awano H, Niba E, Matsuo M
Hum Genet. 2015; 134(9):993-1001.
PMID: 26152642
DOI: 10.1007/s00439-015-1581-2.
A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy.
Dwianingsih E, Malueka R, Nishida A, Itoh K, Lee T, Yagi M
J Hum Genet. 2014; 59(8):423-9.
PMID: 24871807
DOI: 10.1038/jhg.2014.36.
MLPA-based genotype-phenotype analysis in 1053 Chinese patients with DMD/BMD.
Yang J, Li S, Li Y, Cao J, Feng S, Wang Y
BMC Med Genet. 2013; 14:29.
PMID: 23453023
PMC: 3599358.
DOI: 10.1186/1471-2350-14-29.
Nonsense mutation-associated Becker muscular dystrophy: interplay between exon definition and splicing regulatory elements within the DMD gene.
Flanigan K, Dunn D, von Niederhausern A, Soltanzadeh P, Howard M, Sampson J
Hum Mutat. 2011; 32(3):299-308.
PMID: 21972111
PMC: 3724403.
DOI: 10.1002/humu.21426.
Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.
Magri F, Del Bo R, DAngelo M, Govoni A, Ghezzi S, Gandossini S
BMC Med Genet. 2011; 12:37.
PMID: 21396098
PMC: 3061890.
DOI: 10.1186/1471-2350-12-37.
Clinical and genetic characterization of manifesting carriers of DMD mutations.
Soltanzadeh P, Friez M, Dunn D, von Niederhausern A, Gurvich O, Swoboda K
Neuromuscul Disord. 2010; 20(8):499-504.
PMID: 20630757
PMC: 2944769.
DOI: 10.1016/j.nmd.2010.05.010.
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
Flanigan K, Dunn D, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard M
Hum Mutat. 2009; 30(12):1657-66.
PMID: 19937601
PMC: 3404892.
DOI: 10.1002/humu.21114.
Identification of seven novel cryptic exons embedded in the dystrophin gene and characterization of 14 cryptic dystrophin exons.
Zhang Z, Habara Y, Nishiyama A, Oyazato Y, Yagi M, Takeshima Y
J Hum Genet. 2007; 52(7):607-617.
PMID: 17579806
DOI: 10.1007/s10038-007-0163-0.
The role of polymorphic short tandem (CA)n repeat loci segregation analysis in the detection of Duchenne muscular dystrophy carriers and prenatal diagnosis.
Ferreiro V, Giliberto F, Francipane L, Szijan I
Mol Diagn. 2005; 9(2):67-80.
PMID: 16137182
DOI: 10.1007/BF03260074.
Universal primer quantitative fluorescent multiplex (UPQFM) PCR: a method to detect major and minor rearrangements of the low density lipoprotein receptor gene.
Heath K, Day I, Humphries S
J Med Genet. 2000; 37(4):272-80.
PMID: 10745045
PMC: 1734566.
DOI: 10.1136/jmg.37.4.272.
Accurate diagnosis of carriers of deletions and duplications in Duchenne/Becker muscular dystrophy by fluorescent dosage analysis.
Yau S, Bobrow M, Mathew C, Abbs S
J Med Genet. 1996; 33(7):550-8.
PMID: 8818939
PMC: 1050661.
DOI: 10.1136/jmg.33.7.550.
Alternative splicing of dystrophin mRNA complicates carrier determination: report of a DMD family.
Lenk U, Demuth S, Kraft U, Hanke R, Speer A
J Med Genet. 1993; 30(3):206-9.
PMID: 8474106
PMC: 1016300.
DOI: 10.1136/jmg.30.3.206.
Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I).
Hoth C, Milunsky A, Lipsky N, Sheffer R, Clarren S, Baldwin C
Am J Hum Genet. 1993; 52(3):455-62.
PMID: 8447316
PMC: 1682157.
Integrated study of 100 patients with Xp21 linked muscular dystrophy using clinical, genetic, immunochemical, and histopathological data. Part 2. Correlations within individual patients.
Nicholson L, Johnson M, Bushby K, Gardner-Medwin D, Curtis A, Ginjaar I
J Med Genet. 1993; 30(9):737-44.
PMID: 8411068
PMC: 1016530.
DOI: 10.1136/jmg.30.9.737.