Patent application number | Description | Published |
20090023784 | USE OF DEFERIPRONE AND METHODS TO TREAT AND/OR PREVENT FRIEDREICH ATAXIA RESULTING FROM INTRACELLULAR MISHANDLING OF IRON - A therapeutically effective amount of deferiprone or deferasirox or physiologically acceptable salts thereof for the prevention, stabilization, treatment, or reversal of iron-induced FRDA disease in patients resulting from mitochondrial iron-induced damage to preferentially reduce the iron stores in the mitochondria. Also for the treatment of other conditions affecting the brain where a key element in the generation of the resultant pathology is the intracellular mishandling of iron. | 01-22-2009 |
20090258095 | Use of a Ginkgo Biloba Extract for the Treatment of Mitochondrial Disease of Genetic Origin - The invention relates to the use of | 10-15-2009 |
20100284991 | Methods for the Treatment and Diagnosis of Bone Mineral Density Related Diseases - The present invention relates to methods of the treatment and diagnosis of bone mineral density related disorders. More particularly, the present invention relates to a method of diagnosing or predicting a bone mineral density related disease, or a risk of a bone mineral density related disease, in a subject, which method comprises detecting a mutation in the TBXAS1 gene, wherein the presence of said mutation is indicative of a bone mineral density related disease or of a risk of a bone mineral density related disease. The invention also relates to a compound selected in the group consisting of a thromboxane synthase (TXAS) encoding polynucleotide, a TXAS, thromboxane A2 or an analog thereof for treating or preventing a disease associated with an increased bone mineral density (e.g., Ghosal hematodiaphyseal dysplasia syndrome). The invention also relates to a compound selected from the group consisting of an inhibitor of TBXAS1 gene expression or a thromboxane inhibitor for treating or preventing a disease associated with a decreased bone mineral density (e.g., osteoporosis). | 11-11-2010 |
20110294226 | Survival motor Neurons (SMN) gene: a gene for spinal muscular atrophy - The present invention relates to the discovery of the human survival motor-neuron gene or SMD gene, which is a chromosome 5-SMA (Spinal Muscular Atrophy) determining gene. The present invention further relates to the nucleotide sequence encoding the SMN gene and corresponding amino acid sequence, a vector containing the gene encoding the SMN protein or a DNA sequence corresponding to the gene and transformant strains containing the SMN gene or a DNA sequence corresponding to the gene. | 12-01-2011 |
20130190365 | Use of Deferiprone and Methods to Treat and/or Prevent Friedreich Ataxia Resulting from Intracellular Mishandling of Iron - A therapeutically effective amount of deferiprone or deferasirox or physiologically acceptable salts thereof for the prevention, stabilization, treatment, or reversal of iron-induced FRDA disease in patients resulting from mitochondrial iron-induced damage to preferentially reduce the iron stores in the mitochondria. Also for the treatment of other conditions affecting the brain where a key element in the generation of the resultant pathology is the intracellular mishandling of iron. | 07-25-2013 |
20130323759 | SPINAL MUSCULAR ATROPHY DIAGNOSTIC METHODS - The present invention relates to the discovery of the human survival motor-neuron gene or SMD gene, which is a chromosome 5-SMA (Spinal Muscular Atrophy) determining gene. The present invention further relates to the nucleotide sequence encoding the SMN gene and corresponding amino acid sequence, a vector containing the gene encoding the SMN protein or a DNA sequence corresponding to the gene and transformant strains containing the SMN gene or a DNA sequence corresponding to the gene. | 12-05-2013 |
20140308275 | METHODS FOR DIAGNOSING AND TREATING MYHRE SYNDROME - The present invention relates to methods for diagnosing and treating Myhre Syndrome. The invention provides a method for diagnosing or predicting Myhre Syndrome, or a risk of Myhre Syndrome, in a subject, which method comprises detecting a mutation in SMAD4 gene, as compared to a control population, wherein the presence of said mutation is indicative of Myhre Syndrome or of a risk of Myhre Syndrome. The present invention also relates to an inhibitor of the SMAD4-mediated TGFβ/BMP signalling pathway for use in the treatment of Myhre Syndrome. | 10-16-2014 |
20150106960 | METHOD FOR DIAGNOSING A SKELETAL CILIOPATHY - The present invention relates to a method for diagnosing a skeletal ciliopathy. | 04-16-2015 |