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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 [Revista revisada 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 [Revista revisada 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 [Revista revisada 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 [Revista revisada por pares]

United States: Wiley Subscription Services, Inc

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5
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 [Revista revisada por pares]

United States: Blackwell Publishing Ltd

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6
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 [Revista revisada por pares]

United States: Public Library of Science

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7
(−)‐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 [Revista revisada por pares]

Hoboken, USA: John Wiley & Sons, Inc

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8
Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy‐dystroglycanopathy
Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy‐dystroglycanopathy
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Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy‐dystroglycanopathy

Dai, Yi ; Liang, Shengran ; Dong, Xue ; Zhao, Yanhuan ; Ren, Haitao ; Guan, Yuzhou ; Yin, Haifang ; Li, Chen ; Chen, Lin ; Cui, Liying ; Banerjee, Santasree

Journal of cellular and molecular medicine, 2019-02, Vol.23 (2), p.811-818 [Revista revisada por pares]

England: John Wiley and Sons Inc

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9
Cardiac Intervention Improves Heart Disease and Clinical Outcomes in Patients With Muscular Dystrophy in a Multidisciplinary Care Setting
Cardiac Intervention Improves Heart Disease and Clinical Outcomes in Patients With Muscular Dystrophy in a Multidisciplinary Care Setting
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Cardiac Intervention Improves Heart Disease and Clinical Outcomes in Patients With Muscular Dystrophy in a Multidisciplinary Care Setting

Nikhanj, Anish ; Yogasundaram, Haran ; Miskew Nichols, Bailey ; Richman-Eisenstat, Janice ; Phan, Cecile ; Bakal, Jeffrey A ; Siddiqi, Zaeem A ; Oudit, Gavin Y

Journal of the American Heart Association, 2020-01, Vol.9 (2), p.e014004-e014004 [Revista revisada por pares]

England: John Wiley and Sons Inc

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10
Fibronectin is a serum biomarker for Duchenne muscular dystrophy
Fibronectin is a serum biomarker for Duchenne muscular dystrophy
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Fibronectin is a serum biomarker for Duchenne muscular dystrophy

Cynthia Martin, F. ; Hiller, Monika ; Spitali, Pietro ; Oonk, Stijn ; Dalebout, Hans ; Palmblad, Magnus ; Chaouch, Amina ; Guglieri, Michela ; Straub, Volker ; Lochmüller, Hanns ; Niks, Erik H. ; Verschuuren, Jan J. G. M. ; Aartsma-Rus, Annemieke ; Deelder, André M. ; van der Burgt, Yuri E. M. ; 't Hoen, Peter A. C.

Proteomics. Clinical applications, 2014-04, Vol.8 (3-4), p.269-278 [Revista revisada por pares]

Germany: Blackwell Publishing Ltd

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