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Search Results for "Ullrich Muscular Dystrophy Life Expectancy"

17:41 EDT 29th July 2016 | BioPortfolio

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Duchenne muscular dystrophy - DMD

Duchenne muscular dystrophy (DMD) is a severely debilitating childhood neuromuscular disease that affects 1 in 3,500 live male births. This rare disease is caused by mutations in the dystrophin gene...

Exon Skipping in development for DMD

The dystrophin gene is the largest gene in the body, consisting of 79 exons. Exons are small sequences of genetic code which, via an intermediate step involving RNA, lead to the assembly of sections...

Spinal Muscular Atrophies

Progressive muscular atrophy

Orphan Indications

Examples of Ophan Drug Indications include: Anaemia, sickle cell Cystic fibrosis (CF) Duchenne muscular dystrophy Glioma Graft vs host disease (GvHD) Hepatoma, liver cancer Hodgkin Lymphoma ...

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Scientists reveal how osteopontin ablation ameliorates muscular dystrophy

Removing an immunomodulatory protein called osteopontin improves the symptoms of mice with muscular dystrophy by changing the type of macrophages acting on damaged muscle tissue, according to a paper ...

Decoding sugar molecules offers new key for combating muscular dystrophy

A group of Japanese scientists have succeeded in decoding a sugar molecule and clarifying a mechanism linked to muscular dystrophy. Their discovery has potential implications for muscular dystrophy tr...

The State of the Muscular Dystrophy Drug Pipeline

The path to marketing an effective drug for Duchenne muscular dystrophy (DMD) hit another snag earlier this week.Read more about The State of the Muscular Dystrophy Drug PipelineComments

UCLA scientists reveal how osteopontin ablation ameliorates muscular dystrophy

(Rockefeller University Press) Removing an immunomodulatory protein called osteopontin improves the symptoms of mice with muscular dystrophy by changing the type of macrophages acting on damaged muscl...

BioBlast share doubles on positive muscular dystrophy trial

There is no effective drug approved for patients suffering from oculopharyngeal muscular dystrophy.

23rd Annual Black-N-Blue Ball Aims to Raise $1 Million To Help Fight Muscular Dystrophy

MILWAUKEE, Wis. (PRWEB) May 11, 2016 More than 1,300 business, community and civic leaders are putting their muscle behind raising c...

NICE Recommends PTC's Duchenne Muscular Dystrophy Drug

NICE has¬†recommended ataluren (Translarna, PTC Therapeutics) for treating children aged 5 and over with Duchenne muscular dystrophy (DMD) caused by a nonsense mutation. The drug has been called a ‚Ä...

Face- and eye-muscle research sheds new light on Duchenne muscular dystrophy

In a new study, a research team at Basel University Hospital in Switzerland investigates the biochemical and physiological characteristics of orbicularis oculi, a group of facial muscles that control ...

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Quality of life of patients with Duchenne muscular dystrophy: from adolescence to young men.

This study investigated quality of life (QOL) in adolescent and young men with Duchenne muscular dystrophy (DMD).

A Novel Mutation in DMD (c.10797+5G>A) Causes Becker Muscular Dystrophy Associated with Intellectual Disability.

Severe intellectual disability has been reported in a subgroup of patients with Duchenne muscular dystrophy but is not typically associated with Becker muscular dystrophy.

Diagnosis and aetiology of congenital muscular dystrophy: we are halfway there.

To evaluate the diagnostic outcomes in a large cohort of congenital muscular dystrophy (CMD) patients using traditional and Next Generation Sequencing (NGS) technologies.

Determinants of the incidence of Duchenne muscular dystrophy.

Duchenne muscular dystrophy (DMD), an X-linked disorder, is the most common muscular dystrophy with an incidence in boys of about 200 per million births. It presents in early childhood leading to deat...

A Rare Case Report of Neurodegenerative Disease: Duchenne Muscular Dystrophy in Two Male Siblings.

Duchenne muscular dystrophy (DMD) is an recessive X-linked mediated, musculoskeletal disorder that affects only males. It is the most common and severe form of muscular dystrophy where there is failur...

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