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170th ENMC International Workshop: Bone protection for corticosteroid treated Duchenne muscular dystrophy. 27–29 November 2009, Naarden, The Netherlands ⬇️

artículo científico publicado el 17 de agosto de 2010

A form of muscular dystrophy associated with pathogenic variants in JAG2

artículo científico publicado en 2021

A novel trial design to study the effect of intravenous immunoglobulin in chronic inflammatory demyelinating polyradiculoneuropathy

scientific article published on 01 March 1996

A rapid immunohistochemical test to distinguish congenital myotonic dystrophy from X-linked myotubular myopathy ⬇️

artículo científico publicado el 22 de noviembre de 2011

Absence of alpha‐sarcoglycan and novel missense mutations in the alpha‐sarcoglycan gene in a young British girl with muscular dystrophy ⬇️

artículo científico publicado el 1 de noviembre de 1997

Abstracts of the 12th UK Neuromuscular Translational Research Conference, 4th and 5th April 20191

scientific article published on 01 January 2019

Becker muscular dystrophy presenting with complete heart block in the sixth decade

artículo científico publicado en 1995

Cardiac function, metabolism and perfusion in Duchenne and Becker muscular dystrophy

scientific article published on 01 August 1996

Cardiac transplantation in Becker muscular dystrophy

artículo científico publicado en 1992

Dystrophin expression in the hair cells of the cochlea

artículo científico publicado en 1995

Effect of vitamin B6 supplementation in McArdle's disease: a strategic case study

article

From exercise intolerance to functional improvement: the second wind phenomenon in the identification of McArdle disease.

artículo científico publicado en 2014

Heart rate and perceived muscle pain responses to a functional walking test in McArdle disease

artículo científico publicado en 2014

Infantile axonal neuropathy in two siblings

artículo científico publicado en 1994

Innovative care model for patients with complex muscle diseases

artículo científico

Interventions to prevent steroid-induced osteoporosis and osteoporotic fractures in Duchenne muscular dystrophy

artículo científico publicado en 2014

Invited commentary. Sarcoglycanopathies: a clinico-pathological study

artículo científico publicado en 2007

Mastication and Oral Motor Function in McArdle Disease: Patient Reported Complaints

artículo científico publicado en 2018

McArdle Disease Misdiagnosed as Meningitis.

artículo científico publicado en 2016

Physical training for McArdle disease

artículo científico publicado en 2009

Polymyositis without Beneficial Response to Steroid Therapy: Should Miyoshi Myopathy be a Differential Diagnosis?

artículo científico publicado en 2017

Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.

artículo científico publicado en 2016

Primary mitochondrial diseases increase susceptibility to bipolar affective disorder

scientific article published on 11 June 2020

Resistance Exercise Training in McArdle Disease: Myth or Reality?

artículo científico publicado en 2018

The Position of Neuromuscular Patients in Shared Decision Making. Report from the 235th ENMC Workshop: Milan, Italy, January 19-20, 2018

artículo científico publicado en 2019

The spectrum of pathology in central core disease

artículo científico publicado en 2002

The use of stock orthoses to assist gait in neuromuscular disorders: a pilot study

artículo científico publicado en 2006

Vigabatrin with hormonal treatment versus hormonal treatment alone (ICISS) for infantile spasms: 18-month outcomes of an open-label, randomised controlled trial

scientific article published on 29 August 2018

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