emery dreifuss muscular dystrophy edmd

... membrane in 14 patients with Emery Dreifuss muscular dystrophy Nat Genet 12, 254–259 Manilal S, thi Man N, Sewry CA & Morris GE (1996) The Emery Dreifuss muscular dystrophy protein, emerin, is ... gene give rise to X-linked Emery Dreifuss muscular dystrophy (X -EDMD) , a neuromuscular condition with an associated life-threatening cardiac conduction defect [3] EDMD manifests in early childhood ... regions specify the nuclear membrane targeting of emerin, the responsible protein for Emery Dreifuss muscular dystrophy Eur J Biochem 259, 859– 865 Soulham B & Worman HJ (1995) Signals and structural...

Ngày tải lên: 17/03/2014, 17:20

... responsible for Emery Dreifuss muscular dystrophy Nat Genet 8, 323–327 Emery, A.E.H (1989) Emery Dreifuss syndrome J Med Genet 26, 637–641 Emery, A.E.H (2000) Emery Dreifuss muscular dystrophy – ... contribute to the Emery Dreifuss muscular dystrophy phenotype J Cell Sci 111, 781–792 22 Morris, G.E & Manilal, S (1999) Heart to heart: from nuclear proteins to Emery Dreifuss muscular dystrophy Hum ... Workshop, 3rd Workshop of the MYOCLUSTER project: EUROMEN, 7th International Emery Dreifuss Muscular Dystrophy (EDMD) Workshop, 13–15 September 2002, Naarden, The Netherlands Neuromuscul Disord...

Ngày tải lên: 23/03/2014, 12:20

... of muscular dystrophy The other major types of muscular dystrophy include: • • • • • Limb-girdle muscular dystrophy Congenital muscular dystrophy Oculopharyngeal muscular dystrophy Distal muscular ... muscular dystrophy Distal muscular dystrophy Emery- Dreifuss muscular dystrophy Limb-girdle muscular dystrophy Muscles usually affected first by this form of muscular dystrophy include: • • Hips Shoulders ... Distal MD generally begins in adulthood between the ages of 40 and 60 Emery- Dreifuss muscular dystrophy This form of muscular dystrophy usually begins in the muscles of the: • • • Shoulders Upper...

Ngày tải lên: 19/02/2014, 19:20

... oculopharyngeal muscular dystrophy Neuromusc Disord 7, 63–69 ´ 16 Calado A, Tome FMS, Brais B, Rouleau GA, Kuhn U, ¨ Wahle E & Carmo-Fonseca M (2000) Nuclear inclusions in oculopharyngeal muscular dystrophy ... Uyama E, Nohira O et al (1998) Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy Nature Genet 18, 164–167 Hino H, Araki K, Uyama E, Takeya M, Araki M, Yoshinobu K, ... Myopathy phenotype in transgenic mice expressing mutated PABPN1 as a model of oculopharyngeal muscular dystrophy Hum Mol Genet 13, 181–190 Wahle E (1991) A novel poly(A)-binding protein acts as...

Ngày tải lên: 07/03/2014, 11:20

... architecture 3.3 Emery- Dreifuss Muscular Dystrophy Few histopathologists have first-hand experience of more than a handful of presumptive Emery- Dreifuss muscular dystrophy (EDMD) (8) biopsies, ... Muscular Dystrophy: Methods and Protocols Edited by: K M D Bushby and L V B Anderson © Humana Press Inc., Totowa, NJ Bushby and Anderson Table Muscular Dystrophy Genes and Proteins Muscular dystrophy ... resulted in a classification that included the X-linked Duchenne (DMD), Becker and Emery- Dreifuss muscular dystrophy (EDMD) types, the autosomal dominant facioscapulohumeral (FSHD), scapulohumeral,...

Ngày tải lên: 11/04/2014, 09:53

... heart in the mdx mouse model of Duchenne Muscular Dystrophy PLoS One 2010, 5:e11220 Bushby K, Lochmuller H, Lynn S, Straub V: Interventions for muscular dystrophy: molecular medicines entering ... stimulation[11,12,25] For this proof-of-principle study, we did not include additional models of muscular dystrophy or wild-type mice However, we can compare the contractile response to our previous ... failure stemming from a variety of etiologies, NBD treatment may be useful beyond the field of muscular dystrophy Acknowledgements This study was supported by a grant from the National Institutes...

Ngày tải lên: 18/06/2014, 19:20

... heart in the mdx mouse model of Duchenne Muscular Dystrophy PLoS One 2010, 5:e11220 Bushby K, Lochmuller H, Lynn S, Straub V: Interventions for muscular dystrophy: molecular medicines entering ... stimulation[11,12,25] For this proof-of-principle study, we did not include additional models of muscular dystrophy or wild-type mice However, we can compare the contractile response to our previous ... failure stemming from a variety of etiologies, NBD treatment may be useful beyond the field of muscular dystrophy Acknowledgements This study was supported by a grant from the National Institutes...

Ngày tải lên: 20/06/2014, 03:20

... of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation J Clin Invest 2002, 110:807-814 Cooke R: Stem cells aimed at muscular dystrophy: evidence suggests ... marrow transplantation in a patient with Diamond-Blackfan anemia with co-existing Duchenne muscular dystrophy: a case report Journal of Medical Case Reports 2011 5:216 Competing interests The ... MC, van Paassen HM, van Broeckhoven C, Pearson PL, van Ommen GJ: Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications...

Ngày tải lên: 10/08/2014, 23:21

... Duchenne muscular dystrophy using Multiplex Ligation- dependent Probe Amplification” CHAPTER INTRODUCTION 1.1 Duchenne muscular dystrophy 1.1.1 Characteristics of DMD Duchenne muscular dystrophy ... complex (DGC) in skeletal muscular [4] 12 Figure 5: The steps in PCR 15 Figure 6: Test hybridization on a metaphase from the 18 Duchenne muscular dystrophy carrier [29] ... .3 PREFACE .5 CHAPTER INTRODUCTION 1.1 Duchenne muscular dystrophy 1.1.1 Characteristics of DMD .7 1.1.2 Treatment and management...

Ngày tải lên: 05/11/2015, 17:38

... detection in families affected by Duchenne muscular dystrophy using Multiplex Ligation- dependent Probe Amplification” CHAPTER INTRODUCTION 1.1 Duchenne muscular dystrophy 1.1.1 Characteristics of DMD ... phát bệnh nhân có đột biến lặp đoạn exon 11-20 51-60 gen dystrophy Kỹ thuật MLPA thực theo khuyến nghị nhà sản xuất PREFACE Duchenne muscular dystrophy (DMD) is one of the most common fatal genetic ... TÓM TẮT Bệnh loạn dưỡng Duchenne (Duchenne Muscular Dystrophy- DMD) bệnh di truyền lặn liên kết với nhiễm sắc thể X gây đột biến gen dystrophin.Theo...

Ngày tải lên: 05/11/2015, 17:39

... Spieren, the American Muscular Dystrophy Association and the Association Francaise contre les Myopathies ¸ References Leung T, Chen X-Q, Tan I, Manser E & Lim L (1998) Myotonic dystrophy kinase-related ... six major myotonic dystrophy protein kinase (DMPK) isoforms with distinct properties Hum Mol Genet 9, 605–616 16 Bush EW, Helmke SM, Birnbaum RA & Perryman MB (2000) Myotonic dystrophy protein ... contained within the mutants The ability to multimerize is indicated (see the text) Fig Myotonic dystrophy protein kinase (DMPK) isoforms reside in high-molecular-weight complexes Size exclusion...

Ngày tải lên: 16/03/2014, 13:20

... (mdx) mouse, an animal model of Duchenne muscular dystrophy (DMD), suggest that changes in miRNAs expression may contribute to the pathophysiology of muscular dystrophy [42-45] Therefore, McCarthy ... unstable triplet repeat in a gene related to myotonic muscular dystrophy Science 1992, 255:1256-8 Amack JD, Mahadevan MS: Myogenic defects in myotonic dystrophy Dev Biol 2004, 15:294-301 Lin X, Miller ... to develop specific therapies aimed at increasing or maintaining Utrn expression in Duchenne muscular dystrophy To determine whether miR-206 might function in a similar fashion under dystrophic...

Ngày tải lên: 18/06/2014, 16:20

... 21(6):683-688 Stewart KJ, Mason M, Kelemen MH: Three-Year Participation in Circuit Weight Training Improves Muscular Strength and Self-Efficacy in Cardiac Patients Journal of Cardiopulmonary Rehabilitation...

Ngày tải lên: 18/06/2014, 19:20

... cortically-elicited muscle contraction during dCMS is not like the potentiation seen after neuromuscular stimulation [35] While neuromuscular stimulation leads to a brief potentiation of muscle force followed by ... the motor cortex Given the electrodes’ location, this configuration was called dipolar cortico -muscular stimulation (dCMS) The positive electrode was situated at the motor cortex and the negative ... Experimental setup and procedure A: The diagram illustrating the experimental set-up for dipolar cortico -muscular stimulation (dCMS) The positive and negative voltage outputs were connected to electrodes...

Ngày tải lên: 19/06/2014, 08:20

... consequences are for clinical practice This study was designed to examine the occurrence of abnormal muscular coupling during functional, ADL-like reaching movements of chronic stroke patients at the ... decreased with resistance, which does not Discussion To examine the occurrence of abnormal, involuntary muscular coupling during functional reaching movements of chronic stroke patients, the present study ... spasticity during very fast movements, a high movement speed poses a larger strain on the neuromuscular system than the movement task in the present study, which may elicit a more pronounced...

Ngày tải lên: 19/06/2014, 08:20

Ngày tải lên: 02/07/2014, 09:20

Ngày tải lên: 02/07/2014, 09:20

... Phân biệt loạn dưỡng Emery – Dreifurs với bệnh khác hội chứng cứng cột sống, biểu bệnh tim di truyền liên quan đến NST...

Ngày tải lên: 02/07/2014, 09:20

Ngày tải lên: 02/07/2014, 09:20

Ngày tải lên: 02/07/2014, 09:20