Publications:

Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients.

Journal Of Cachexia, Sarcopenia And Muscle

Capitanio, Daniele D; Moriggi, Manuela M; Torretta, Enrica E; Barbacini, Pietro P; De Palma, Sara S; Viganò, Agnese A; Lochmüller, Hanns H; Muntoni, Francesco F; Ferlini, Alessandra A; Mora, Marina M; Gelfi, Cecilia C

Publication Date: 2020-04

Variant appearance in text: DMD: 5209C>T

PubMed Link: 31991054

Variant Present in the following documents:

• JCSM-11-547-s001.pdf

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Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing.

Bmc Medical Genetics

Magri, Francesca F; Del Bo, Roberto R; D'Angelo, Maria G MG; Govoni, Alessandra A; Ghezzi, Serena S; Gandossini, Sandra S; Sciacco, Monica M; Ciscato, Patrizia P; Bordoni, Andreina A; Tedeschi, Silvana S; Fortunato, Francesco F; Lucchini, Valeria V; Cereda, Matteo M; Corti, Stefania S; Moggio, Maurizio M; Bresolin, Nereo N; Comi, Giacomo P GP

Publication Date: 2011-03-11

Variant appearance in text: DMD: 5209C>T

PubMed Link: 21396098

Variant Present in the following documents:

• Main text
• 1471-2350-12-37.pdf

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One hundred twenty-one dystrophin point mutations detected from stored DNA samples by combinatorial denaturing high-performance liquid chromatography.

The Journal Of Molecular Diagnostics : Jmd

Torella, Annalaura A; Trimarco, Amelia A; Blanco, Francesca Del Vecchio Fdel V; Cuomo, Anna A; Aurino, Stefania S; Piluso, Giulio G; Minetti, Carlo C; Politano, Luisa L; Nigro, Vincenzo V

Publication Date: 2010-01

Variant appearance in text: DMD: 5209C>T; Q1737X

PubMed Link: 19959795

Variant Present in the following documents:

• Main text

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