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Análise molecular dos genes CAPN3 e FKRP em pacientes com distrofia muscular tipo cinturas
Análise molecular dos genes CAPN3 e FKRP em pacientes com distrofia muscular tipo cinturas
Material Type:
Master's Thesis 		Add to e-Shelf

Análise molecular dos genes CAPN3 e FKRP em pacientes com distrofia muscular tipo cinturas

Silva, Francisco Marcos Alencar Da

Biblioteca Digital de Teses e Dissertações da USP; Universidade de São Paulo; Faculdade de Medicina 2016-09-12

Online access. The library also has physical copies.

2
Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association
Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association
Material Type:
Article 		Add to e-Shelf

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

Feingold, Brian ; Mahle, William T ; Auerbach, Scott ; Clemens, Paula ; Domenighetti, Andrea A ; Jefferies, John L ; Judge, Daniel P ; Lal, Ashwin K ; Markham, Larry W ; Parks, W James ; Tsuda, Takeshi ; Wang, Paul J ; Yoo, Shi-Joon

Circulation (New York, N.Y.), 2017-09, Vol.136 (13), p.e200-e231 [Peer Reviewed Journal]

United States: by the American College of Cardiology Foundation and the American Heart Association, Inc

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3
Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine
Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine
Material Type:
Article 		Add to e-Shelf

Evidence-based guideline summary: Diagnosis and treatment of limb-girdle and distal dystrophies: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American Association of Neuromuscular & Electrodiagnostic Medicine

Narayanaswami, Pushpa ; Weiss, Michael ; Selcen, Duygu ; David, William ; Raynor, Elizabeth ; Carter, Gregory ; Wicklund, Matthew ; Barohn, Richard J ; Ensrud, Erik ; Griggs, Robert C ; Gronseth, Gary ; Amato, Anthony A

Neurology, 2014-10, Vol.83 (16), p.1453-1463 [Peer Reviewed Journal]

United States: American Academy of Neurology

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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
Material Type:
Article 		Add to e-Shelf

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 [Peer Reviewed Journal]

United States: Wiley Subscription Services, Inc

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5
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy
Material Type:
Article 		Add to e-Shelf

New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy

Alonso-Pérez, Jorge ; González-Quereda, Lidia ; Bello, Luca ; Guglieri, Michela ; Straub, Volker ; Gallano, Pia ; Semplicini, Claudio ; Pegoraro, Elena ; Zangaro, Vittoria ; Nascimento, Andrés ; Ortez, Carlos ; Comi, Giacomo Pietro ; Dam, Leroy Ten ; De Visser, Marianne ; van der Kooi, A J ; Garrido, Cristina ; Santos, Manuela ; Schara, Ulrike ; Gangfuß, Andrea ; Løkken, Nicoline ; Storgaard, Jesper Helbo ; Vissing, John ; Schoser, Benedikt ; Dekomien, Gabriele ; Udd, Bjarne ; Palmio, Johanna ; D'Amico, Adele ; Politano, Luisa ; Nigro, Vincenzo ; Bruno, Claudio ; Panicucci, Chiara ; Sarkozy, Anna ; Abdel-Mannan, Omar ; Alonso-Jimenez, Alicia ; Claeys, Kristl G ; Gomez-Andrés, David ; Munell, Francina ; Costa-Comellas, Laura ; Haberlová, Jana ; Rohlenová, Marie ; Elke, De Vos ; De Bleecker, Jan L ; Dominguez-González, Cristina ; Tasca, Giorgio ; Weiss, Claudia ; Deconinck, Nicolas ; Fernández-Torrón, Roberto ; López de Munain, Adolfo ; Camacho-Salas, Ana ; Melegh, Béla ; Hadzsiev, Kinga ; Leonardis, Lea ; Koritnik, Blaz ; Garibaldi, Matteo ; de Leon-Hernández, Juan Carlos ; Malfatti, Edoardo ; Fraga-Bau, Arturo ; Richard, Isabelle ; Illa, Isabel ; Díaz-Manera, Jordi

Brain (London, England : 1878), 2020-09, Vol.143 (9), p.2696-2708 [Peer Reviewed Journal]

England

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6
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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Article 		Add to e-Shelf

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 [Peer Reviewed Journal]

England: John Wiley and Sons Inc

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7
Clinico‐genetic spectrum of limb‐girdle muscular weakness in Austria: A multicentre cohort study
Clinico‐genetic spectrum of limb‐girdle muscular weakness in Austria: A multicentre cohort study
Material Type:
Article 		Add to e-Shelf

Clinico‐genetic spectrum of limb‐girdle muscular weakness in Austria: A multicentre cohort study

Krenn, Martin ; Tomschik, Matthias ; Wagner, Matias ; Zulehner, Gudrun ; Weng, Rosa ; Rath, Jakob ; Klotz, Sigrid ; Gelpi, Ellen ; Bsteh, Gabriel ; Keritam, Omar ; Colonna, Isabella ; Paternostro, Chiara ; Jäger, Fiona ; Lindeck‐Pozza, Elisabeth ; Iglseder, Stephan ; Grinzinger, Susanne ; Schönfelder, Martina ; Hohenwarter, Christina ; Freimüller, Manfred ; Embacher, Norbert ; Wanschitz, Julia ; Topakian, Raffi ; Töpf, Ana ; Straub, Volker ; Quasthoff, Stefan ; Zimprich, Fritz ; Löscher, Wolfgang N. ; Cetin, Hakan

European journal of neurology, 2022-06, Vol.29 (6), p.1815-1824 [Peer Reviewed Journal]

England: John Wiley & Sons, Inc

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8
Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies
Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies
Material Type:
Article 		Add to e-Shelf

Limb girdle muscular dystrophies: classification, clinical spectrum and emerging therapies

Vissing, John

Current opinion in neurology, 2016-10, Vol.29 (5), p.635-641 [Peer Reviewed Journal]

England

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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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Article 		Add to e-Shelf

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 [Peer Reviewed Journal]

United States: Public Library of Science

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10
Muscle MRI in inherited neuromuscular disorders: Past, present, and future
Muscle MRI in inherited neuromuscular disorders: Past, present, and future
Material Type:
Article 		Add to e-Shelf

Muscle MRI in inherited neuromuscular disorders: Past, present, and future

Mercuri, Eugenio ; Pichiecchio, Anna ; Allsop, Joanna ; Messina, Sonia ; Pane, Marika ; Muntoni, Francesco

Journal of magnetic resonance imaging, 2007-02, Vol.25 (2), p.433-440 [Peer Reviewed Journal]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

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