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muscular atrophy/atrofi
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Knockout-transgenic mouse model of spinal muscular atrophy
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BACKGROUND OF THE INVENTION
1. Field of the Invention
The present invention relates to a mouse model for spinal muscular atrophy, or SMA, and to methods of making and using said mouse model. Particularly, the invention pertains to a genetically engineered mouse model which genotypically and
Antisense oligonucleotides for treatment of spinal muscular atrophy
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FIELD OF THE INVENTION
The present invention relates generally to antisense oligonucleotides that are useful in the treatment of spinal muscular atrophy, and more specifically to antisense oligonucleotides that can enhance the production of full-length survival motor neuron (SMN)
Treatment for spinal muscular atrophy
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BACKGROUND OF THE INVENTION
1. Field of the Invention
The present invention relates to a treatment of spinal muscular atrophy, and in particular relates to a treatment of spinal muscular atrophy using sodium-proton exchanger inhibitor.
2. Description of the Related Art
Spinal muscular atrophy (SMA)
Compounds for treating spinal muscular atrophy
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The technology herein has not been made with U.S. Government support
INTRODUCTION
Provided herein are compounds, compositions thereof and uses therewith for treating Spinal Muscular Atrophy.
BACKGROUND
Spinal muscular atrophy (SMA), in its broadest sense, describes a collection of inherited and
Compounds for treating spinal muscular atrophy
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The technology described herein has not been made with U.S. Government support.
STATEMENT ON JOINT RESEARCH AGREEMENT
The subject matter disclosed was developed and the claimed invention was made by, or on behalf of, one or more parties to a joint research agreement that was in effect on or before
Compounds for treating spinal muscular atrophy
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The technology described herein has not been made with U.S. Government support.
STATEMENT ON JOINT RESEARCH AGREEMENT
The subject matter disclosed was developed and the claimed invention was made by, or on behalf of, one or more parties to a joint research agreement that was in effect on or before
2,4-Diaminoquinazolines for spinal muscular atrophy
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FIELD OF THE INVENTION
The invention relates to a genus of 2,4-diaminoquinazolines that are useful for treating spinal muscular atrophy (SMA).
BACKGROUND
Spinal muscular atrophy (SMA) is a currently untreatable, autosomal recessive genetic disease caused by a deficiency of full-length survival motor
2,4-diaminoquinazolines for spinal muscular atrophy
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FIELD OF THE INVENTION
The invention relates to a genus of 2,4-diaminoquinazolines that are useful for treating spinal muscular atrophy (SMA).
BACKGROUND
Spinal muscular atrophy (SMA) is a currently untreatable, autosomal recessive genetic disease caused by a deficiency of full-length survival motor
2,4-diaminoquinazolines for spinal muscular atrophy
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FIELD OF THE INVENTION
The invention relates to a genus of 2,4-diaminoquinazolines that are useful for treating spinal muscular atrophy (SMA).
BACKGROUND
Spinal muscular atrophy (SMA) is a currently untreatable, autosomal recessive genetic disease caused by a deficiency of full-length survival motor
Compounds for treating spinal muscular atrophy
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The technology described herein has not been made with U.S. Government support.
STATEMENT ON JOINT RESEARCH AGREEMENT
The subject matter disclosed was developed and the claimed invention was made by, or on behalf of, one or more parties to a joint research agreement that was in effect on or before
Compounds for treating spinal muscular atrophy
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The technology described herein has not been made with U.S. Government support.
STATEMENT ON JOINT RESEARCH AGREEMENT
The subject matter disclosed was developed and the claimed invention was made by, or on behalf of, one or more parties to a joint research agreement that was in effect on or before
Materials and methods for identifying spinal muscular atrophy carriers
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FIELD
The disclosed technology generally relates to the field of genetic counseling and, more particularly, to methods of identifying carriers of genetic determinants associated with deleterious conditions.
BACKGROUND
Spinal muscular atrophy is one of the most common and severe autosomal recessive
Screening methods for spinal muscular atrophy
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INCORPORATION OF SEQUENCE LISTING
A paper copy of the Sequence Listing and a computer readable form of the sequence containing the file named "31377-18 (IURTC 12111)_ST25.txt", which is 54,433 bytes in size (as measured in MS-DOS), are provided herein and are herein incorporated by reference. This
Methods for treating spinal muscular atrophy
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INTRODUCTION
Described herein are nucleic acid constructs for use in identifying or validating compounds capable of producing a stabilized SMN.DELTA.Ex7 protein and the use of said compounds to treat Spinal Muscular Atrophy.
BACKGROUND
Spinal Muscular Atrophy ("SMA"), in its broadest sense,
Methods for treating spinal muscular atrophy using tetracycline compounds
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BACKGROUND
Spinal Muscular Atrophy (SMA) is an often-fatal genetic disorder resulting from the loss of the Survival Motor Neuron (SMN) protein encoded by the Survival Motor Neuron (SMN) gene. The SMN genes, SMN1 and SMN2, are located on chromosome 5 and SMA is caused by the loss of SMN1 from both
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