Patents by Inventor Judith Melki

Judith Melki has filed for patents to protect the following inventions. This listing includes patent applications that are pending as well as patents that have already been granted by the United States Patent and Trademark Office (USPTO).

  • Gene Mutations for the Diagnosis of Arthrogryposis Multiplex Congenita and Congenital Peripheral Neuropathies Disease
    Publication number: 20150167089
    Abstract: The present invention relates to a method of identifying a subject having or at risk of having or developing arthrogryposis multiplex congenita and/or congenital peripheral neuropathy, comprising determining, in a sample obtained from said subject, the presence or absence of a single nucleotide variant (SNV) in CNTNAP1, ADCY6, LGI4 or LMOD3 genes
    Type: Application
    Filed: December 18, 2014
    Publication date: June 18, 2015
    Inventor: Judith Melki
  • Spinal muscular atrophy diagnostic methods
    Patent number: 8962269
    Abstract: 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.
    Type: Grant
    Filed: February 4, 2013
    Date of Patent: February 24, 2015
    Assignee: Institut National de la Sante et de la Recherche Medicale
    Inventors: Judith Melki, Arnold Munnich
  • Survival motor neurons (SMN) gene: a gene for spinal muscular atrophy
    Patent number: 8394932
    Abstract: 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.
    Type: Grant
    Filed: April 28, 2011
    Date of Patent: March 12, 2013
    Assignee: Institut National de la Sante et de la Recherche Medicale
    Inventors: Judith Melki, Arnold Munnich
  • Survival motor Neurons (SMN) gene: a gene for spinal muscular atrophy
    Publication number: 20110294226
    Abstract: 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.
    Type: Application
    Filed: April 28, 2011
    Publication date: December 1, 2011
    Inventors: Judith MELKI, Arnold Munnich
  • Survival motor neuron (SMN) gene: a gene for spinal muscular atrophy
    Publication number: 20070166737
    Abstract: 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.
    Type: Application
    Filed: November 22, 2006
    Publication date: July 19, 2007
    Inventors: Judith Melki, Arnold Munnich
  • Survival motor neuron (SMN) gene: a Gene for spinal muscular atrophy
    Publication number: 20060089490
    Abstract: 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.
    Type: Application
    Filed: September 12, 2005
    Publication date: April 27, 2006
    Inventors: Judith Melki, Arnold Munnich
  • Spinal muscular atrophy diagnostic methods
    Patent number: 7033752
    Abstract: 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.
    Type: Grant
    Filed: July 2, 1998
    Date of Patent: April 25, 2006
    Assignee: Institut National de la Sante et de la Recherche Medicale
    Inventors: Judith Melki, Arnold Munnich
  • Survival motor neuron (SMN) gene: a gene for spinal muscular atrophy
    Patent number: 6080577
    Abstract: The present invention relates to the discovery of the human survival motor-neuron gene or SMN 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.
    Type: Grant
    Filed: October 19, 1995
    Date of Patent: June 27, 2000
    Assignee: Institut National de la Sante et de la Recherche Medicale
    Inventors: Judith Melki, Arnold Munnich
  • Method and probes for detecting markers linked to the infantile spinal muscular atrophy locus
    Patent number: 6040142
    Abstract: The invention relates to methods and compositions for detecting the presence of genetic alterations in the human 5q13 chromosomal region. More specifically, the invention relates to nucleic acids, probes, primers, and methods of using the same, for the amplification and/or the detection of alterations in the human 5q13 chromosomal region, and their correlation to spinal muscular atrophy.
    Type: Grant
    Filed: January 29, 1997
    Date of Patent: March 21, 2000
    Assignee: Institut National de la Santa et de la Recherche Medicale
    Inventors: Judith Melki, Arnold Munnich