original ) (raw )Molecular Genetic Analysis of Limb Girdle Muscular Dystrophy 2A (LGMD2A) in two consanguineous Pakistani families
Muhammad Jaseem Khan
2015
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Homozygous nonsense mutation inSGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt
Hemakumar Reddy
Muscle & Nerve, 2016
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Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect
zohreh sharifi
Orphanet Journal of Rare Diseases, 2020
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A homozygous nonsense mutation in SGCA is a common cause of LGMD in Assiut, Egypt
Elicia Estrella
Muscle & nerve, 2016
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Limb-girdle muscular dystrophy type 2B: An unusual cause of proximal muscular weakness in Saudi Arabia
Ben Mohamed Habib
Journal of back and musculoskeletal rehabilitation, 2018
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A cross section of autosomal recessive limb-girdle muscular dystrophies in 38 families
Ayse Karaduman , Haluk Topaloglu , Serdar Epözdemir , Ersin Tan
Journal of Medical Genetics, 2000
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Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic
Radim Mazanec
BMC Neurology, 2014
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Exome Sequencing Identifies a Novel SGCA Gene Mutation in an Iranian Family with Limb Girdle Muscular Dystrophy: A Case Report
Mostafa Neissi
Gene, Cell and Tissue
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Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E
Corrado Angelini
Neurology, 2015
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IEOD_ Limb girdle muscular dystophies clinical genetic diagnosis and prospects o9f therapy.pdf
Corrado I Angelini
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Efficient identification of novel mutations in patients with limb girdle muscular dystrophy
salem alshemmari
neurogenetics, 2010
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Limb-girdle muscular dystrophy type 2I is not rare in Taiwan
Ichizo Nishino
Neuromuscular Disorders, 2013
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Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation
Ohad Birk
European Journal of Human Genetics, 2004
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Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families
Suely Marie
Journal of Medical Genetics, 1996
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Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I
Sigurd Lindal
Neuromuscular Disorders, 2011
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Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population
Acary Oliveira
Journal of the Neurological Sciences, 1999
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The Seventh Form of Autosomal Recessive Limb-Girdle Muscular Dystrophy Is Mapped to 17q11-12
mayana Santos
American Journal of Human Genetics, 1997
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Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2C
Orkide Guzel
Türk patoloji dergisi, 2014
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A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey
daniel jung
Annals of Neurology, 1997
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Clinical and Genetic Studies of Limb Girdle Muscular Dystrophy: Reports of Two Cases
Rumana Islam
Journal of Enam Medical College
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