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Cross‐sectional serum metabolomic study of multiple forms of muscular dystrophy
Cross‐sectional serum metabolomic study of multiple forms of muscular dystrophy
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Cross‐sectional serum metabolomic study of multiple forms of muscular dystrophy

Spitali, Pietro ; Hettne, Kristina ; Tsonaka, Roula ; Sabir, Ekrem ; Seyer, Alexandre ; Hemerik, Jesse B.A. ; Goeman, Jelle J. ; Picillo, Esther ; Ergoli, Manuela ; Politano, Luisa ; Aartsma‐Rus, Annemieke

Journal of cellular and molecular medicine, 2018-04, Vol.22 (4), p.2442-2448 [Periódico revisado por pares]

England: John Wiley & Sons, Inc

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2
LMNA-associated myopathies: The Italian experience in a large cohort of patients
LMNA-associated myopathies: The Italian experience in a large cohort of patients
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LMNA-associated myopathies: The Italian experience in a large cohort of patients

Maggi, Lorenzo ; DʼAmico, Adele ; Pini, Antonella ; Sivo, Serena ; Pane, Marika ; Ricci, Giulia ; Vercelli, Liliana ; DʼAmbrosio, Paola ; Travaglini, Lorena ; Sala, Simone ; Brenna, Greta ; Kapetis, Dimos ; Scarlato, Marina ; Pegoraro, Elena ; Ferrari, Maurizio ; Toscano, Antonio ; Benedetti, Sara ; Bernasconi, Pia ; Colleoni, Lara ; Lattanzi, Giovanna ; Bertini, Enrico ; Mercuri, Eugenio ; Siciliano, Gabriele ; Rodolico, Carmelo ; Mongini, Tiziana ; Politano, Luisa ; Previtali, Stefano C ; Carboni, Nicola ; Mantegazza, Renato ; Morandi, Lucia

Neurology, 2014-10, Vol.83 (18), p.1634-1644 [Periódico revisado por pares]

Hagerstown, MD: American Academy of Neurology

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3
ERBB3 and NGFR mark a distinct skeletal muscle progenitor cell in human development and hPSCs
ERBB3 and NGFR mark a distinct skeletal muscle progenitor cell in human development and hPSCs
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ERBB3 and NGFR mark a distinct skeletal muscle progenitor cell in human development and hPSCs

Hicks, Michael R ; Hiserodt, Julia ; Paras, Katrina ; Fujiwara, Wakana ; Eskin, Ascia ; Jan, Majib ; Xi, Haibin ; Young, Courtney S ; Evseenko, Denis ; Nelson, Stanley F ; Spencer, Melissa J ; Handel, Ben Van ; Pyle, April D

Nature cell biology, 2018-01, Vol.20 (1), p.46-57 [Periódico revisado por pares]

England: Nature Publishing Group

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4
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis
The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis
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The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis

Magri, Francesca ; Nigro, Vincenzo ; Angelini, Corrado ; Mongini, Tiziana ; Mora, Marina ; Moroni, Isabella ; Toscano, Antonio ; D'angelo, Maria Grazia ; Tomelleri, Giuliano ; Siciliano, Gabriele ; Ricci, Giulia ; Bruno, Claudio ; Corti, Stefania ; Musumeci, Olimpia ; Tasca, Giorgio ; Ricci, Enzo ; Monforte, Mauro ; Sciacco, Monica ; Fiorillo, Chiara ; Gandossini, Sandra ; Minetti, Carlo ; Morandi, Lucia ; Savarese, Marco ; Fruscio, Giuseppina Di ; Semplicini, Claudio ; Pegoraro, Elena ; Govoni, Alessandra ; Brusa, Roberta ; Del Bo, Roberto ; Ronchi, Dario ; Moggio, Maurizio ; Bresolin, Nereo ; Comi, Giacomo Pietro

Muscle & nerve, 2017-01, Vol.55 (1), p.55-68 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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5
Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study
Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study
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Long-term effects of glucocorticoids on function, quality of life, and survival in patients with Duchenne muscular dystrophy: a prospective cohort study

McDonald, Craig M ; Henricson, Erik K ; Abresch, Richard T ; Duong, Tina ; Joyce, Nanette C ; Hu, Fengming ; Clemens, Paula R ; Hoffman, Eric P ; Cnaan, Avital ; Gordish-Dressman, Heather ; Vishwanathan, Vijay ; Chidambaranathan, S ; Biggar, W. Douglas ; McAdam, Laura C. ; Mah, Jean K. ; Tulinius, Mar ; Cnaan, Avital ; Morgenroth, Lauren P. ; Leshner, Robert ; Tesi-Rocha, Carolina ; Thangarajh, Mathula ; Duong, Tina ; Kornberg, Andrew ; Ryan, Monique ; Nevo, Yoram ; Dubrovsky, Alberto ; Clemens, Paula R. ; Abdel-Hamid, Hoda ; Connolly, Anne M. ; Pestronk, Alan ; Teasley, Jean ; Bertorin, Tulio E. ; Webster, Richard ; Kolski, Hanna ; Kuntz, Nancy ; Driscoll, Sherilyn ; Bodensteiner, John B. ; Carlo, Jose ; Gorni, Ksenija ; Lotze, Timothy ; Day, John W. ; Karachunski, Peter ; Henricson, Erik K. ; Abresch, Richard T. ; Joyce, Nanette C. ; McDonald, Craig M.

The Lancet (British edition), 2018-02, Vol.391 (10119), p.451-461 [Periódico revisado por pares]

England: Elsevier Ltd

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6
Diagnosis and new treatments in muscular dystrophies
Diagnosis and new treatments in muscular dystrophies
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Diagnosis and new treatments in muscular dystrophies

Manzur, A Y ; Muntoni, F

Journal of neurology, neurosurgery and psychiatry, 2009-07, Vol.80 (7), p.706-714 [Periódico revisado por pares]

London: The Fellowship of Postgraduate Medicine

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7
The cooperative international neuromuscular research group Duchenne natural history study: Glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and other commonly used clinical trial outcome measures
The cooperative international neuromuscular research group Duchenne natural history study: Glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and other commonly used clinical trial outcome measures
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The cooperative international neuromuscular research group Duchenne natural history study: Glucocorticoid treatment preserves clinically meaningful functional milestones and reduces rate of disease progression as measured by manual muscle testing and other commonly used clinical trial outcome measures

Henricson, Erik K. ; Abresch, R. Ted ; Cnaan, Avital ; Hu, Fengming ; Duong, Tina ; Arrieta, Adrienne ; Han, Jay ; Escolar, Diana M. ; Florence, Julaine M. ; Clemens, Paula R. ; Hoffman, Eric P. ; McDonald, Craig M.

Muscle & nerve, 2013-07, Vol.48 (1), p.55-67 [Periódico revisado por pares]

United States: Blackwell Publishing Ltd

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8
Perturbation of muscle metabolism in patients with muscular dystrophy in early or acute phase of disease: In vitro, high resolution NMR spectroscopy based analysis
Perturbation of muscle metabolism in patients with muscular dystrophy in early or acute phase of disease: In vitro, high resolution NMR spectroscopy based analysis
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Perturbation of muscle metabolism in patients with muscular dystrophy in early or acute phase of disease: In vitro, high resolution NMR spectroscopy based analysis

Srivastava, Niraj Kumar ; Yadav, Ramakant ; Mukherjee, Somnath ; Sinha, Neeraj

Clinica chimica acta, 2018-03, Vol.478, p.171-181 [Periódico revisado por pares]

Netherlands: Elsevier B.V

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9
Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing
Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing
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Mutational spectrum of Chinese LGMD patients by targeted next-generation sequencing

Yu, Meng ; Zheng, Yiming ; Jin, Suqin ; Gang, Qiang ; Wang, Qingqing ; Yu, Peng ; Lv, He ; Zhang, Wei ; Yuan, Yun ; Wang, Zhaoxia Ling, Feng

PloS one, 2017-04, Vol.12 (4), p.e0175343-e0175343 [Periódico revisado por pares]

United States: Public Library of Science

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10
(−)‐Epicatechin induces mitochondrial biogenesis and markers of muscle regeneration in adults with Becker muscular dystrophy
(−)‐Epicatechin induces mitochondrial biogenesis and markers of muscle regeneration in adults with Becker muscular dystrophy
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(−)‐Epicatechin induces mitochondrial biogenesis and markers of muscle regeneration in adults with Becker muscular dystrophy

McDonald, Craig M. ; Ramirez‐Sanchez, Israel ; Oskarsson, Björn ; Joyce, Nanette ; Aguilar, Candace ; Nicorici, Alina ; Dayan, Jonathan ; Goude, Erica ; Abresch, R. Ted ; Villarreal, Francisco ; Ceballos, Guillermo ; Perkins, Guy ; Dugar, Sundeep ; Schreiner, George ; Henricson, Erik K.

Muscle & nerve, 2021-02, Vol.63 (2), p.239-249 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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