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Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy
Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy
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Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy

Tan, Dandan ; Yang, Haipo ; Yuan, Yun ; Bonnemann, Carsten ; Chang, Xingzhi ; Wang, Shuang ; Wu, Yuchen ; Wu, Xiru ; Xiong, Hui Wu, Zhi-Ying

PloS one, 2015-06, Vol.10 (6), p.e0129699-e0129699 [Periódico revisado por pares]

United States: Public Library of Science

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2
X-Linked Emery-Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers
X-Linked Emery-Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers
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X-Linked Emery-Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers

Viggiano, Emanuela ; Madej-Pilarczyk, Agnieszka ; Carboni, Nicola ; Picillo, Esther ; Ergoli, Manuela ; Gaudio, Stefania Del ; Marchel, Michal ; Nigro, Gerardo ; Palladino, Alberto ; Politano, Luisa

Genes, 2019-11, Vol.10 (11), p.919 [Periódico revisado por pares]

Switzerland: MDPI AG

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3
A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like
A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like
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A novel SYNE1 gene mutation in a Chinese family of Emery-Dreifuss muscular dystrophy-like

Chen, Zuzhi ; Ren, Zhixia ; Mei, Wenli ; Ma, Qiankun ; Shi, Yingying ; Zhang, Yuanxing ; Li, Shujian ; Xiang, Li ; Zhang, Jiewen

BMC medical genetics, 2017-06, Vol.18 (1), p.63-63, Article 63 [Periódico revisado por pares]

England: BioMed Central Ltd

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4
Occurrence of Emery-Dreifuss muscular dystrophy in a rural setting of Cameroon: a case report and review of the literature
Occurrence of Emery-Dreifuss muscular dystrophy in a rural setting of Cameroon: a case report and review of the literature
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Occurrence of Emery-Dreifuss muscular dystrophy in a rural setting of Cameroon: a case report and review of the literature

Ekabe, Cyril Jabea ; Kehbila, Jules ; Sama, Carlson-Babila ; Kadia, Benjamin Momo ; Abanda, Martin Hongieh ; Monekosso, Gottlieb Lobe

BMC research notes, 2017-01, Vol.10 (1), p.36-36, Article 36 [Periódico revisado por pares]

England: BioMed Central Ltd

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5
Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy
Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy
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Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy

Eymard, B. ; Ferreiro, A. ; Ben Yaou, R. ; Stojkovic, T.

Revue neurologique, 2013-08, Vol.169 (8-9), p.546-563 [Periódico revisado por pares]

France: Elsevier Masson SAS

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6
The empowerment of translational research: lessons from laminopathies
The empowerment of translational research: lessons from laminopathies
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The empowerment of translational research: lessons from laminopathies

Benedetti, Sara ; Bernasconi, Pia ; Bertini, Enrico ; Biagini, Elena ; Boriani, Giuseppe ; Capanni, Cristina ; Carboni, Nicola ; Cenacchi, Giovanna ; Columbaro, Marta ; D'Adamo, Monica ; D'Amico, Adele ; D'Apice, Maria Rosaria ; Fontana, Marianna ; Gambineri, Alessandra ; Lattanzi, Giovanna ; Liguori, Rocco ; Maraldi, Nadir M ; Mazzanti, Laura ; Mercuri, Eugenio ; Mongini, Tiziana ; Morandi, Lucia O ; Neri, Iria ; Nigro, Giovanni ; Novelli, Giuseppe ; Ortolani, Michela ; Pasquali, Renato ; Pini, Antonella ; Petrini, Stefania ; Politano, Luisa ; Previtali, Stefano ; Pucci, Lisa ; Rapezzi, Claudio ; Ricci, Giulia ; Rodolico, Carmelo ; Sbraccia, Paolo ; Scarano, Emanuela ; Siciliano, Gabriele ; Squarzoni, Stefano ; Toscano, Antonio ; Vercelli, Liliana ; Ziacchi, Matteo

Orphanet journal of rare diseases, 2012-06, Vol.7 (1), p.37-37, Article 37 [Periódico revisado por pares]

England: BioMed Central Ltd

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7
Hypoplasia of the Aorta in a Patient Diagnosed with LMNA Gene Mutation
Hypoplasia of the Aorta in a Patient Diagnosed with LMNA Gene Mutation
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Hypoplasia of the Aorta in a Patient Diagnosed with LMNA Gene Mutation

Coutance, Guillaume ; Labombarda, Fabien ; Cauderlier, Emmanuelle ; Belin, Annette ; Richard, Pascale ; Bonne, Gisèle ; Chapon, Françoise

Congenital heart disease, 2013-07, Vol.8 (4), p.E127-E129 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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8
Primary Myocardial Dysfunction in Autosomal Dominant EDMD. A Tissue Doppler and Cardiovascular Magnetic Resonance Study
Primary Myocardial Dysfunction in Autosomal Dominant EDMD. A Tissue Doppler and Cardiovascular Magnetic Resonance Study
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Primary Myocardial Dysfunction in Autosomal Dominant EDMD. A Tissue Doppler and Cardiovascular Magnetic Resonance Study

Smith, Gillian C. ; Kinali, Maria ; Prasad, Sanjay K. ; Bonne, Gisèle ; Muntoni, Francesco ; Pennell, Dudley J. ; Nihoyannopoulos, Petros

Journal of cardiovascular magnetic resonance, 2006-01, Vol.8 (5), p.723-730 [Periódico revisado por pares]

England: Informa UK Ltd

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9
In which cases does molecular biology allow a diagnosis in neuromuscular pathology?
In which cases does molecular biology allow a diagnosis in neuromuscular pathology?
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In which cases does molecular biology allow a diagnosis in neuromuscular pathology?

Pouget, J

Revue neurologique, 2009-04, Vol.165 Spec No 2, p.F73-F79 [Periódico revisado por pares]

France

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10
Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report
Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report
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Autosomal dominant Emery-Dreifuss muscular dystrophy caused by a mutation in the lamin A/C gene identified by exome sequencing: a case report

Iskandar, Kristy ; Astari, Farida Niken ; Gumilang, Rizki Amalia ; Ilma, Nissya ; Shartyanie, Ni Putu ; Adistyawan, Guritno ; Tan, Grace ; Lai, Poh San

BMC pediatrics, 2022-10, Vol.22 (1), p.1-601, Article 601 [Periódico revisado por pares]

London: BioMed Central Ltd

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