Myotonic dystrophy: diagnosis, management and new therapies.

Myotonic dystrophy: diagnosis, management and new therapies.

PURPOSE OF REVIEW: Myotonic dystrophies type 1 and type 2 are progressive multisystem genetic disorders with clinical and genetic features in common. Myotonic dystrophy type 1 is the most prevalent muscular dystrophy in adults and has a wide phenotypic spectrum. The average age of death in myotonic...

पूर्ण विवरण

ग्रंथसूची विवरण
मुख्य लेखकों:	Turner, C, Hilton-Jones, D
स्वरूप:	Journal article
भाषा:	English
प्रकाशित:	2014

समान संसाधन

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प्रकाशित: (2006)

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प्रकाशित: (2005)

Three cases of androgen-dependent disease associated with myotonic dystrophy.
द्वारा: Cooper, S, और अन्य
प्रकाशित: (2003)

Reduction in excess daytime sleepiness by modafinil in patients with myotonic dystrophy.
द्वारा: Talbot, K, और अन्य
प्रकाशित: (2003)

Positive effect of modafinil on daytime somnolence on patients with Myotonic Dystrophy
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प्रकाशित: (2002)

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Modafinil for excessive daytime sleepiness in myotonic dystrophy type 1--the patients' perspective.
द्वारा: Hilton-Jones, D, और अन्य
प्रकाशित: (2012)

Modafinil for excessive daytime sleepiness in myotonic dystrophy type 1 - The patients' perspective
द्वारा: Hilton-Jones, D, और अन्य
प्रकाशित: (2012)

Congenital Myotonic Dystrophy
द्वारा: J Gordon Millichap
प्रकाशित: (1987-09-01)

MRC Centre for Neuromuscular Diseases 1st (1st December 2010), and 2nd (2nd May 2012) myotonic dystrophy workshops, London, UK and the myotonic dystrophy standards of care and national registry meeting, Newcastle, UK July 2011
द्वारा: Turner, C, और अन्य
प्रकाशित: (2013)

MRC Centre for Neuromuscular Diseases 1st (1st December 2010), and 2nd (2nd May 2012) myotonic dystrophy workshops, London, UK and the myotonic dystrophy standards of care and national registry meeting, Newcastle, UK July 2011.
द्वारा: Turner, C, और अन्य
प्रकाशित: (2013)

A randomised controlled trial of modafinil for treatment of daytime somnolence in myotonic dystrophy
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द्वारा: J Gordon Millichap
प्रकाशित: (1992-10-01)

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प्रकाशित: (1993-10-01)

Myotonic dystrophy type 2
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प्रकाशित: (2017-02-01)

Cardiac involvement in myotonic dystrophy
द्वारा: Koroush Khalighi, और अन्य
प्रकाशित: (2015-02-01)

Ophthalmological findings in myotonic dystrophy
द्वारा: Maddalena De Bernardo, और अन्य

Desflurane anaesthesia in myotonic dystrophy
द्वारा: Ranju Gandhi, और अन्य
प्रकाशित: (2011-01-01)

Myotonic Dystrophy: An Anaesthetic Dilemma
द्वारा: N Gupta, और अन्य
प्रकाशित: (2009-01-01)

Prophylactic immunoglobulin therapy for pediatric congenital myotonic dystrophy
द्वारा: Yoji Uejima, और अन्य
प्रकाशित: (2024-04-01)

New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1). The International Myotonic Dystrophy Consortium (IDMC).
द्वारा: Ashizawa, T, और अन्य
प्रकाशित: (2000)

Pattern retinal dystrophy in a case of myotonic dystrophy
द्वारा: Chahveer Singh Bindra, और अन्य
प्रकाशित: (2023-01-01)

Anesthetic management for a patient with myotonic dystrophy with remimazolam
द्वारा: Yasuhiro Morimoto, और अन्य
प्रकाशित: (2021-01-01)

Marathoning with myotonic dystrophy type 2 (proximal myotonic myopathy) and leukopenia
द्वारा: Josef Finsterer, और अन्य
प्रकाशित: (2017-04-01)

Choroidal new vessels in type 1 myotonic dystrophy-related macular dystrophy respond to anti-VEGF therapy.
द्वारा: Zinkernagel, MS, और अन्य
प्रकाशित: (2012)

Myotonic Dystrophy: Severity and Maternal Age
द्वारा: J Gordon Millichap
प्रकाशित: (1992-06-01)

Congenital Myotonic Dystrophy and Pleural Effusion
द्वारा: J Gordon Millichap
प्रकाशित: (1988-09-01)

Anesthesia for a Patient with Myotonic Dystrophy
द्वारा: Dilek Kalaycı, और अन्य
प्रकाशित: (2016-09-01)

Myotonic Dystrophy—A Progeroid Disease?
द्वारा: Peter Meinke, और अन्य
प्रकाशित: (2018-07-01)

Molecular genetics of congenital myotonic dystrophy
द्वारा: Stella Lanni, और अन्य
प्रकाशित: (2019-12-01)

Myotonic dystrophy: genetics and clinical polymorphism
द्वारा: Ekaterina O. Ivanova, और अन्य
प्रकाशित: (2019-03-01)

CONGENITAL MYOTONIC DYSTROPHY – CASE REPORT
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प्रकाशित: (2001-07-01)

Core Clinical Phenotypes in Myotonic Dystrophies
द्वारा: Stephan Wenninger, और अन्य
प्रकाशित: (2018-05-01)

Alternative isoform regulation in myotonic dystrophy
द्वारा: Wang, Eric T. (Eric Tzy-shi)
प्रकाशित: (2012)

Congenital Myotonic Dystrophy in the Neonatal Period -
द्वारा: Barbora Červenková
प्रकाशित: (2023-06-01)

Cutaneous findings in myotonic dystrophyCapsule Summary
द्वारा: Ha Eun Kong, MD, PhD, और अन्य
प्रकाशित: (2022-06-01)

Cell membrane integrity in myotonic dystrophy type 1: implications for therapy.
द्वारा: Anchel González-Barriga, और अन्य
प्रकाशित: (2015-01-01)