Search Results for "Spinal Muscular Atrophy A Time For Screening"
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Muscular dystrophy is a group of degenerative inherited disorders causing muscle weakness and loss of muscle tissue. The different types are Becker muscular dystrophy, Duchenne muscular dystrophy, E...
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A new approach for spinal muscular atrophy?
Spinal muscular atrophy is a debilitating neuromuscular disease that in its most severe form is the leading genetic cause of infant death. By experimenting with an ALS drug in two very different anima...
Stem Cell Research Sheds New Light On Cell Death In Spinal Muscular Atrophy
Cedars-Sinai's Regenerative Medicine Institute has pioneered research on how motor-neuron cell-death occurs in patients with spinal muscular atrophy, offering an important clue in identifying potentia...
Understanding of spinal muscular atrophy improved with use of stem cells
Scientists have pioneered research on how motor-neuron cell-death occurs in patients with spinal muscular atrophy, offering an important clue in identifying potential medicines to treat this leading g...
Pfizer, Repligen unite to develop spinal muscular atrophy drugs
Pfizer and Repligen will develop the latter's spinal muscular atrophy program including experimental SMA drug RG3039 as part -More-
New understanding of how motor neurons die in spinal muscular atrophy patients
Cedars-Sinai's Regenerative Medicine Institute has pioneered research on how motor-neuron cell-death occurs in patients with spinal muscular atrophy, offering an important clue in identifying potentia...
Shared pathway links Lou Gehrig's disease with spinal muscular atrophy
(Harvard Medical School) Scientists have long known the main proteins that lead to the development of amyotrophic lateral sclerosis and spinal muscular atrophy, respectively. Now research shows that t...
Pfizer, Repligen sign licensing deal to advance spinal muscular atrophy program
Repligen Corporation announced today that it has entered into an exclusive worldwide licensing agreement with Pfizer Inc. to advance Repligen's spinal muscular atrophy (SMA) program, originally in-lic...
Molecular link between spinal muscular atrophy and amyotrophic lateral sclerosis
Researchers of motor neuron diseases have long had a hunch that two fatal diseases, amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), might somehow be linked. A new study confirms...
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Carrier testing for spinal muscular atrophy.
Spinal muscular atrophy is the most common fatal hereditary disease among newborns and infants. There is as yet no effective treatment. Although a carrier test is available, currently there is disagre...
Alpha-Synuclein Loss in Spinal Muscular Atrophy.
Spinal muscular atrophy, the most prevalent hereditary motor neuron disease, is caused by mutations in the survival motor neuron (SMN) 1 gene. A significant reduction in the encoded SMN protein leads...
Abstract: The authors suggest a simplification for the current molecular genetic testing of spinal muscular atrophy (SMA). Deletion analysis of SMN1 exon 7 alone may be necessary and sufficient for th...
New Routes to Therapy for Spinal and Bulbar Muscular Atrophy.
Spinal and bulbar muscular atrophy (SBMA), also known as Kennedy's disease, is a genetically inherited neuromuscular disorder characterized by loss of lower motor neurons in the brainstem and spinal c...
Recent developments in the treatment of Duchenne muscular dystrophy and spinal muscular atrophy.
Pediatric neuromuscular disorders comprise a large variety of disorders that can be classified based on their neuroanatomical localization, patterns of weakness, and laboratory test results. Over the...
