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Year | Number of Results |
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2007 | 1 |
2009 | 1 |
2016 | 1 |
2020 | 1 |
2024 | 0 |
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Measurement of the clinical utility of a combined mutation detection protocol in carriers of Duchenne and Becker muscular dystrophy.
J Med Genet. 2007 Jun;44(6):368-72. doi: 10.1136/jmg.2006.047464. Epub 2007 Jan 26.
J Med Genet. 2007.
PMID: 17259292
Free PMC article.
Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort.
Flanigan KM, Dunn DM, von Niederhausern A, Soltanzadeh P, Gappmaier E, Howard MT, Sampson JB, Mendell JR, Wall C, King WM, Pestronk A, Florence JM, Connolly AM, Mathews KD, Stephan CM, Laubenthal KS, Wong BL, Morehart PJ, Meyer A, Finkel RS, Bonnemann CG, Medne L, Day JW, Dalton JC, Margolis MK, Hinton VJ; United Dystrophinopathy Project Consortium; Weiss RB.
Flanigan KM, et al.
Hum Mutat. 2009 Dec;30(12):1657-66. doi: 10.1002/humu.21114.
Hum Mutat. 2009.
PMID: 19937601
Free PMC article.
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A case report with the peculiar concomitance of 2 different genetic syndromes.
Lerario A, Colombo I, Milani D, Peverelli L, Villa L, Del Bo R, Sciacco M, Comi GP, Esposito S, Moggio M.
Lerario A, et al.
Medicine (Baltimore). 2016 Dec;95(49):e5567. doi: 10.1097/MD.0000000000005567.
Medicine (Baltimore). 2016.
PMID: 27930565
Free PMC article.
Review.
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The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.
Neri M, Rossi R, Trabanelli C, Mauro A, Selvatici R, Falzarano MS, Spedicato N, Margutti A, Rimessi P, Fortunato F, Fabris M, Gualandi F, Comi G, Tedeschi S, Seia M, Fiorillo C, Traverso M, Bruno C, Giardina E, Piemontese MR, Merla G, Cau M, Marica M, Scuderi C, Borgione E, Tessa A, Astrea G, Santorelli FM, Merlini L, Mora M, Bernasconi P, Gibertini S, Sansone V, Mongini T, Berardinelli A, Pini A, Liguori R, Filosto M, Messina S, Vita G, Toscano A, Vita G, Pane M, Servidei S, Pegoraro E, Bello L, Travaglini L, Bertini E, D'Amico A, Ergoli M, Politano L, Torella A, Nigro V, Mercuri E, Ferlini A.
Neri M, et al.
Front Genet. 2020 Mar 3;11:131. doi: 10.3389/fgene.2020.00131. eCollection 2020.
Front Genet. 2020.
PMID: 32194622
Free PMC article.
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