Your browser doesn't support javascript.
loading
Exome sequencing identifies variants in two genes encoding the LIM-proteins NRAP and FHL1 in an Italian patient with BAG3 myofibrillar myopathy.
D'Avila, Francesca; Meregalli, Mirella; Lupoli, Sara; Barcella, Matteo; Orro, Alessandro; De Santis, Francesca; Sitzia, Clementina; Farini, Andrea; D'Ursi, Pasqualina; Erratico, Silvia; Cristofani, Riccardo; Milanesi, Luciano; Braga, Daniele; Cusi, Daniele; Poletti, Angelo; Barlassina, Cristina; Torrente, Yvan.
Affiliation
  • D'Avila F; Department of Health Sciences, Università degli Studi di Milano, via A. Rudinì 8, 20100, Milan, Italy.
  • Meregalli M; Filarete Foundation, Viale Ortles, 22, 20100, Milan, Italy.
  • Lupoli S; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Centro Dino Ferrari, via F. Sforza, 35, 20122, Milan, Italy.
  • Barcella M; YStem s.r.l., viale Piave 21, 20129, Milan, Italy.
  • Orro A; Department of Health Sciences, Università degli Studi di Milano, via A. Rudinì 8, 20100, Milan, Italy.
  • De Santis F; Filarete Foundation, Viale Ortles, 22, 20100, Milan, Italy.
  • Sitzia C; Department of Health Sciences, Università degli Studi di Milano, via A. Rudinì 8, 20100, Milan, Italy.
  • Farini A; Filarete Foundation, Viale Ortles, 22, 20100, Milan, Italy.
  • D'Ursi P; Institute for Biomedical Technologies, CNR, Via Fratelli Cervi N. 93, Segrate, 20090, Milan, Italy.
  • Erratico S; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Centro Dino Ferrari, via F. Sforza, 35, 20122, Milan, Italy.
  • Cristofani R; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Centro Dino Ferrari, via F. Sforza, 35, 20122, Milan, Italy.
  • Milanesi L; Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Centro Dino Ferrari, via F. Sforza, 35, 20122, Milan, Italy.
  • Braga D; Institute for Biomedical Technologies, CNR, Via Fratelli Cervi N. 93, Segrate, 20090, Milan, Italy.
  • Cusi D; YStem s.r.l., viale Piave 21, 20129, Milan, Italy.
  • Poletti A; Dipartimento di Scienze Farmacologiche e Biomolecolari, Centro di Eccellenza per lo studio delle malattie neurodegenerative (CEND), Università degli studi di Milano, via Balzaretti, 9, 20100, Milan, Italy.
  • Barlassina C; Institute for Biomedical Technologies, CNR, Via Fratelli Cervi N. 93, Segrate, 20090, Milan, Italy.
  • Torrente Y; Department of Health Sciences, Università degli Studi di Milano, via A. Rudinì 8, 20100, Milan, Italy.
J Muscle Res Cell Motil ; 37(3): 101-15, 2016 06.
Article in En | MEDLINE | ID: mdl-27443559
Subject(s)
Key words
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Database: MEDLINE Main subject: Myopathies, Structural, Congenital / Intracellular Signaling Peptides and Proteins / Adaptor Proteins, Signal Transducing / Apoptosis Regulatory Proteins / LIM Domain Proteins / Muscle Proteins Type of study: Prognostic_studies Limits: Adult / Female / Humans Country/Region as subject: Europa Language: En Journal: J Muscle Res Cell Motil Year: 2016 Type: Article Affiliation country: Italy
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Database: MEDLINE Main subject: Myopathies, Structural, Congenital / Intracellular Signaling Peptides and Proteins / Adaptor Proteins, Signal Transducing / Apoptosis Regulatory Proteins / LIM Domain Proteins / Muscle Proteins Type of study: Prognostic_studies Limits: Adult / Female / Humans Country/Region as subject: Europa Language: En Journal: J Muscle Res Cell Motil Year: 2016 Type: Article Affiliation country: Italy