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1. Update on Therapy for Myotonic Dystrophy Type 1

   Purpose of review

   This review aimed to summarize the clinical characteristics of myotonic dystrophy type 1 and to provide a comprehensive review of...

   Vukan Ivanovic, Giovani Meola, ... Stojan Peric in Current Treatment Options in Neurology

   Article 14 July 2023

2. Cognition trajectory in Duchenne muscular dystrophy

   Background

   Duchenne muscular dystrophy (DMD) is an X-linked recessive disease brought on by genetic changes that alter the dystrophin (DYS) protein....

   Abeer A. Tony, Sara Abdelrashid, ... Mohamed Rizk Khodair in The Egyptian Journal of Neurology, Psychiatry and Neurosurgery

   Article Open access 03 July 2024
   

3. Clinical features and genetic spectrum of a multicenter Chinese cohort with myotonic dystrophy type 1

   Background

   As the most common subtype of adult muscular dystrophy worldwide, large cohort reports on myotonic dystrophy type I (DM1) in China are...

   Huahua Zhong, Li Zeng, ... Sushan Luo in Orphanet Journal of Rare Diseases

   Article Open access 07 March 2024
   

4. Facioscapulohumeral muscular dystrophy: the road to targeted therapies

   Advances in the molecular understanding of facioscapulohumeral muscular dystrophy (FSHD) have revealed that FSHD results from epigenetic...

   Mara S. Tihaya, Karlien Mul, ... Silvère M. van der Maarel in Nature Reviews Neurology

   Article 10 January 2023
   

5. French National Protocol for diagnosis and care of facioscapulohumeral muscular dystrophy (FSHD)

   Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common genetically inherited myopathies in adults. It is characterized by incomplete...

   Shahram Attarian, Sadia Beloribi-Djefaflia, ... Sabrina Sacconi in Journal of Neurology

   Article 02 July 2024
   

6. Identification of hub genes and therapeutic siRNAs to develop novel adjunctive therapy for Duchenne muscular dystrophy

   Objective

   Duchenne muscular dystrophy (DMD) is a devastating X-linked neuromuscular disorder caused by various defects in the dystrophin gene and...

   Na Li, Zhikai **ahou, ... Yongchun Wang in BMC Musculoskeletal Disorders

   Article Open access 18 May 2024
   

7. Deep phenotypic characterization of the retinal dystrophy in patients with RNU4ATAC-associated Roifman syndrome

   Purpose

   To characterize the retinal phenotype in RNU4ATAC -associated Roifman syndrome.

   Methods

   Ten patients (including 8 males) with molecularly...

   Brian G. Ballios, Amarilla Mandola, ... Ajoy Vincent in Eye

   Article 24 May 2023
   

8. Evolving Role of Viltolarsen for Treatment of Duchenne Muscular Dystrophy

   Duchenne muscular dystrophy (DMD) is one of the most prevalent X-linked inherited neuromuscular disorders, with an estimated incidence between 1 in...

   LeighAnn Y. Vincik, Alexandra D. Dautel, ... Alan D. Kaye in Advances in Therapy

   Article 20 February 2024
   

9. Sources of variation in estimates of Duchenne and Becker muscular dystrophy prevalence in the United States

   Background

   Direct estimates of rare disease prevalence from public health surveillance may only be available in a few catchment areas. Understanding...

   Nedra Whitehead, Stephen W. Erickson, ... Li**g Ouyang in Orphanet Journal of Rare Diseases

   Article Open access 22 March 2023
   

10. Rhei Undulati Rhizoma attenuates memory decline and reduces amyloid-β induced neuritic dystrophy in 5xFAD mouse

    Background

    Alzheimer's disease (AD) is a common type of dementia characterized by amyloid-β (Aβ) accumulation, lysosomal dysfunction, and tau...

    Seungmin Lee, In Gyoung Ju, ... Myung Sook Oh in Chinese Medicine

    Article Open access 04 July 2024
    

11. Is it time for genetic modifiers to predict prognosis in Duchenne muscular dystrophy?

    Patients with Duchenne muscular dystrophy (DMD) show clinically relevant phenotypic variability, despite sharing the same primary biochemical defect...

    Luca Bello, Eric P. Hoffman, Elena Pegoraro in Nature Reviews Neurology

    Article 12 June 2023
    

12. Eteplirsen Treatment for Duchenne Muscular Dystrophy: A Qualitative Patient Experience Study

    Introduction

    Duchenne muscular dystrophy (DMD) is characterized by rapid functional decline. Current available treatment options aim to delay disease...

    Joel Iff, Chloe Carmichael, ... Helen Kitchen in Advances in Therapy

    Article Open access 03 July 2024
    

13. Observing the Clinical Course of Duchenne Muscular Dystrophy in Medicaid Real-World Healthcare Data

    Introduction

    Duchenne muscular dystrophy (DMD) is a rare, severe progressive neuromuscular disease. Health insurance claims allow characterization of...

    Christina Qian, Alexa C. Klimchak, ... Katherine L. Gooch in Advances in Therapy

    Article Open access 02 May 2024
    

14. Fuchs Dystrophy and Cataract: Diagnosis, Evaluation and Treatment

    Corneal endothelium plays an important role in maintaining hydration homeostasis and clarity of the cornea. Fuchs endothelial corneal dystrophy...

    Muhammad Ali, Kyong** Cho, Divya Srikumaran in Ophthalmology and Therapy

    Article Open access 13 January 2023
    

15. Develo** a Natural History Model for Duchenne Muscular Dystrophy

    Background

    The aim of this study was to pool multiple data sets to build a patient-centric, data-informed, natural history model (NHM) for Duchenne...

    Jonathan Broomfield, M. Hill, ... K. R. Abrams in PharmacoEconomics - Open

    Article Open access 29 November 2023
    

16. Variants in DTNA cause a mild, dominantly inherited muscular dystrophy

    DTNA encodes α-dystrobrevin, a component of the macromolecular dystrophin–glycoprotein complex (DGC) that binds to dystrophin/utrophin and...

    Andres Nascimento, Christine C. Bruels, ... Daniel Natera-de Benito in Acta Neuropathologica

    Article 17 February 2023
    

17. The alterations of corneal biomechanics in adult patients with corneal dystrophy

    Purpose

    To evaluate the changes of corneal biomechanics in granular, lattice and macular corneal dystrophy (GCD, LCD and MCD), and to assess the...

    Mengliang Wu, **g Han, ... Yan Wang in Eye

    Article 16 February 2022
    

18. Ocular findings in a Spanish cohort of myotonic dystrophy type 1

    Purpose

    Myotonic dystrophy type 1 is the most common muscular dystrophy in adulthood, caused by a triplet repeat in chromosome 19q13.3. The present...

    Ignacio García-Cruz, Francisco José Muñoz-Negrete, ... David Mingo-Botín in Graefe's Archive for Clinical and Experimental Ophthalmology

    Article 04 November 2022
    

19. Growth hormone and testosterone delay vertebral fractures in boys with muscular dystrophy on chronic glucocorticoids

    Summary

    Glucocorticoid use in Duchenne and Becker muscular dystrophy prolongs ambulation but cause significant skeletal toxicity. Our analysis has...

    Emely Loscalzo, Julia See, ... Janet L. Crane in Osteoporosis International

    Article Open access 23 October 2023
    

20. A case of myotonic dystrophy type 1 with severe dilated cardiomyopathy: an unusual presenting manifestation of the most common muscular dystrophy in adults

    Ritwik Ghosh, Moisés León-Ruiz, ... Julián Benito-León in Neurological Sciences

    Article 22 April 2024