53 results about "Spinal muscular atrophies" patented technology

Provided herein are compounds, compositions thereof and uses therewith for treating spinal muscular atrophy.

Provided herein are compounds, compositions thereof and uses therewith for treating spinal muscular atrophy.

The present invention provides compounds of formula (I)wherein A, R1, R2 and R3 are as described herein, as well as pharmaceutically acceptable salts thereof. Further the present invention is concerned with the manufacture of the compounds of formula (I), pharmaceutical compositions comprising them and their use as medicaments.

The invention provides a detection kit for virulence gene of spinal muscular atrophy and application thereof, comprising primer SMN-Ex7-F with such sequences as SEQ ID NO.1; primer SMN-Ex7-R with such sequences as SEQ ID NO.2 and probe SMN-Ex7-P with such sequences as SEQ ID NO.3. The above kit in the invention can be applied to detect the carrier of spinal muscular atrophy virulence gene, comprising the steps of extracting the genome DNA from subject to be detected; precisely quantifying the genome DNA from subject to be detected; and performing primary fluorescent quantitation PCR based on genome DNA from subject to be detected as the template to obtain the primary fluorescent quantitation curve. The kit in the invention can visually, precisely, quickly and succinctly detect the SMN1 gene, so as to realize the distinguishing of SMA virulence gene carrier and normal people.

Methods for using tetracycline compounds for the treatment of spinal muscular atrophy are described.

The present invention provides compounds of formula (I) wherein A, B, X, Y, R1 and R2 are as described herein, as well as pharmaceutically acceptable salts thereof. Further the present invention is concerned with the manufacture of the compounds of formula (I), pharmaceutical compositions comprising them and their use as medicaments.

The present invention provides compounds and assays for the identification and validation of compounds for use in the treatment of spinal muscular atrophy (SMA), in which said compounds up-regulate the post-transcriptional expression of SMN1 or SMN2.

The invention discloses a time-of-flight mass spectrometry nucleic acid analysis method for detecting human spinal muscular atrophy gene mutation. A primer combination comprising an amplification primer and a mass spectrometry extension probe primer is utilized. According to the method, the copy numbers of sequences related to SMN1, SMN2, NAIP, H4F5 and GTF2H2 genes are quantitatively detected, and whether deletion, deletion number and multiple copies exist or not is analyzed, so that the clinical phenotype severity can be directly deduced; the method has good sensitivity, specificity, stability and accuracy, and effectively solves the technical bottleneck of false negative, false positive and the like; the operation is simple, the cost is relatively low, and the result is stable and reliable; the method is high in flux and low in cost, has general representativeness and universality, is easy to realize automatic and large-scale detection, and is suitable for large-scale population screening; genetic typing detection can be carried out on part of common SMN1 upper point mutations; and the requirements of large-scale population screening, prenatal diagnosis and conventional molecular diagnosis in current SMA prevention and treatment are met.

Provided herein are compounds, compositions thereof and uses therewith for treating spinal muscular atrophy.

The present invention relates to novel analogs of choline and methods of use or treatment of neurodegenerative disorders and / or conditions such as Parkinson's disease, Huntington disease, Alzheimer's disease and related disorders such as amyotrophic lateral sclerosis, spinal muscular atrophy, Friedrich's ataxia, Pick's disease, Bassen-Kornzweig syndrome, Refsom's disease, retinal degeneration, Cruetzfelt-Jacob syndrome or prion disease (mad cow disease), dementia with Lewy bodies, schizophrenia, paraneoplastic cerebellar degeneration and neurodegenerative conditions caused by stroke. The present compounds are effective to treat any neurological condition where acetylcholine transmission neurons and their target cells are affected. Compounds according to the present invention are effective to alleviate and / or reverse the effects of a neurodegenerative condition, prevent further deterioration and / or enhance cognition and memory in patients suffering from neurodegenerative disorders, especially Alzheimer's disease.

Provided herein are compounds, compositions thereof and uses therewith for treating spinal muscular atrophy. In a specific embodiment, provided herein are compounds of a form that may be used to modulate the inclusion of exon 7 of SMN2 into mRNA that is transcribed from the SMN2 gene. In another specific embodiment, provided herein are compounds of a form that may be used to modulate the inclusion of exon 7 of SMN1 into mRNA that is transcribed from the SMN1 gene. In yet another embodiment, provided herein are compounds of a form that may be used to modulate the inclusion of exon 7 of SMN1 and SMN2 into mRNA that is transcribed from the SMN1 and SMN2 genes, respectively.

The present invention provides compounds of formula (I)wherein A, R1, R2 and R3 are as described herein, as well as pharmaceutically acceptable salts thereof. Further the present invention is concerned with the manufacture of the compounds of formula (I), pharmaceutical compositions comprising them and their use as medicaments.

Disclosed herein are compounds, compositions and methods for treatment of diseases and disorders, including spinal muscular atrophy.