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A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy
by
Rossi, Daniela
,
Palmio, Johanna
,
Evilä, Anni
,
Galli, Lucia
,
Barone, Virginia
,
Caldwell, Tracy A
,
Policke, Rachel A
,
Aldkheil, Esraa
,
Berndsen, Christopher E
,
Wright, Nathan T
,
Malfatti, Edoardo
,
Brochier, Guy
,
Pierantozzi, Enrico
,
Jordanova, Albena
,
Guergueltcheva, Velina
,
Romero, Norma Beatriz
,
Hackman, Peter
,
Eymard, Bruno
,
Udd, Bjarne
,
Sorrentino, Vincenzo
Published in
PloS one
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Structure and Molecular Dynamics of the Ig58/58 Domains of Obscurin
by
Caldwell, Tracy A.
,
Wright, Nathan T.
,
Policke, Rachel A.
,
Sumner, Isaiah
,
Berndsen, Christopher E.
Published in
Biophysical journal
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Biophysical Journal
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Desmin
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Distal Myopathies - Diagnostic Imaging
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Dystrophy
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Frameshift Mutation
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