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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
Autosomal recessive Emery–Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing
Autosomal recessive Emery–Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing
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Autosomal recessive Emery–Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing

Jimenez‐Escrig, Adriano ; Gobernado, Isabel ; Garcia‐Villanueva, Mercedes ; Sanchez‐Herranz, Antonio

Muscle & nerve, 2012-04, Vol.45 (4), p.605-610 [Periódico revisado por pares]

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

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3
Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies
Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies
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Reliability and accuracy of skeletal muscle imaging in limb-girdle muscular dystrophies

TEN DAM, Leroy ; VAN DER KOOI, Anneke J ; VAN WATTINGEN, Menno ; DE HAAN, Rob J ; DE VISSER, Marianne

Neurology, 2012-10, Vol.79 (16), p.1716-1723 [Periódico revisado por pares]

Hagerstown, MD: Lippincott Williams & Wilkins

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4
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene
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Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

Bonne, G. ; Mercuri, E. ; Muchir, A. ; Urtizberea, A. ; Bécane, H. M. ; Recan, D. ; Merlini, L. ; Wehnert, M. ; Boor, R. ; Reuner, U. ; Vorgerd, M. ; Wicklein, E. M. ; Eymard, B. ; Duboc, D. ; Penisson-Besnier, I. ; Cuisset, J. M. ; Ferrer, X. ; Desguerre, I. ; Lacombe, D. ; Bushby, K. ; Pollitt, C. ; Toniolo, D. ; Fardeau, M. ; Schwartz, K. ; Muntoni, F.

Annals of neurology, 2000-08, Vol.48 (2), p.170-180 [Periódico revisado por pares]

New York: John Wiley & Sons, Inc

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5
Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations
Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations
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Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations

Carboni, Nicola ; Mura, Marco ; Marrosu, Giovanni ; Cocco, Eleonora ; Marini, Stefano ; Solla, Elisabetta ; Mateddu, Anna ; Maioli, Maria Antonietta ; Piras, Rachele ; Mallarini, Giorgio ; Mercuro, Giuseppe ; Porcu, Maurizio ; Marrosu, Maria Giovanna

Muscle & nerve, 2010-04, Vol.41 (4), p.458-463 [Periódico revisado por pares]

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

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6
Cardiovascular risk markers in dilated cardiomyopathy in Emery–Dreifuss muscular dystrophy (EDMD)
Cardiovascular risk markers in dilated cardiomyopathy in Emery–Dreifuss muscular dystrophy (EDMD)
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Cardiovascular risk markers in dilated cardiomyopathy in Emery–Dreifuss muscular dystrophy (EDMD)

Niebroj-Dobosz, Irena ; Sokołowska, Beata ; Madej-Pilarczyk, Agnieszka ; Marchel, Michał ; Hausmanowa-Petrusewicz, Irena

International journal of cardiology, 2014-05, Vol.173 (2), p.324-325 [Periódico revisado por pares]

Shannon: Elsevier Ireland Ltd

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7
Reducing Body Myopathy and Other FHL1-Related Muscular Disorders
Reducing Body Myopathy and Other FHL1-Related Muscular Disorders
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Reducing Body Myopathy and Other FHL1-Related Muscular Disorders

Schessl, Joachim, MD ; Feldkirchner, Sarah, MSc ; Kubny, Christiana, MSc ; Schoser, Benedikt, MD

Seminars in pediatric neurology, 2011-12, Vol.18 (4), p.257-263 [Periódico revisado por pares]

United States: Elsevier Inc

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8
Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy
Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy
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Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy

Benedetti, S ; Bertini, E ; Iannaccone, S ; Angelini, C ; Trisciani, M ; Toniolo, D ; Sferrazza, B ; Carrera, P ; Comi, G ; Ferrari, M ; Quattrini, A ; Previtali, S C

Journal of neurology, neurosurgery and psychiatry, 2005-07, Vol.76 (7), p.1019-1021 [Periódico revisado por pares]

London: BMJ Publishing Group Ltd

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9
Osteopontin – a fibrosis-related marker – in dilated cardiomyopathy in patients with Emery-Dreifuss muscular dystrophy
Osteopontin – a fibrosis-related marker – in dilated cardiomyopathy in patients with Emery-Dreifuss muscular dystrophy
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Osteopontin – a fibrosis-related marker – in dilated cardiomyopathy in patients with Emery-Dreifuss muscular dystrophy

Niebroj-Dobosz, Irena ; Madej-Pilarczyk, Agnieszka ; Marchel, Michał ; Sokołowska, Beata ; Hausmanowa-Petrusewicz, Irena

Scandinavian journal of clinical and laboratory investigation, 2011-12, Vol.71 (8), p.658-662 [Periódico revisado por pares]

Colchester: Informa Healthcare

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10
A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy
A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy
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A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy

Kim, Hyun Y. ; Ki, Chang-Seok ; Kang, Seok-Jae ; Khang, Shin K. ; Koh, Seong-Ho ; Kim, Dong-Won ; Kim, Seung H. ; Sung, Il-Hoon

Muscle & nerve, 2008-10, Vol.38 (4), p.1336-1339 [Periódico revisado por pares]

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

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