Her scientific interests lie mostly in Genetics, Spinal muscular atrophy, Cell biology, Proximal spinal muscular atrophy and Locus. Her Genetics and Gene mapping and Spinal muscular atrophies investigations all form part of her Genetics research activities. Her studies deal with areas such as Motor neuron and Exon as well as Spinal muscular atrophy.
Her Cell biology research includes elements of Neuron, Skeletal muscle, Nuclear receptor, Peroxisome proliferator-activated receptor alpha and Lipid metabolism. Proximal spinal muscular atrophy is a subfield of Pathology that she investigates. She combines subjects such as Amyotrophic lateral sclerosis and Genome-wide association study, Single-nucleotide polymorphism with her study of Locus.
Judith Melki mainly investigates Genetics, Spinal muscular atrophy, Locus, Gene and Molecular biology. Her Spinal muscular atrophy study integrates concerns from other disciplines, such as Motor neuron and Exon. Her Locus study combines topics in areas such as Amyotrophic lateral sclerosis and Genome-wide association study, Single-nucleotide polymorphism.
The concepts of her Molecular biology study are interwoven with issues in Arthrogryposis multiplex congenita and Arthrogryposis. Her SMN1 study frequently draws connections to adjacent fields such as Spinal muscular atrophies. Survival of motor neuron is closely attributed to Proximal spinal muscular atrophy in her study.
Her main research concerns Genetics, Pathology, Exome sequencing, Arthrogryposis multiplex congenita and Arthrogryposis. Genetics is represented through her Locus, Proband, Sanger sequencing, Single-nucleotide polymorphism and Reprogramming research. The study incorporates disciplines such as Dystonia, Cerebellar ataxia and Actin in addition to Pathology.
Her Actin study which covers Cardiac muscle that intersects with Cell biology. Her study explores the link between Arthrogryposis multiplex congenita and topics such as Gene mapping that cross with problems in Allele and Genetic heterogeneity. Judith Melki has included themes like Molecular biology and Frameshift mutation in her Arthrogryposis study.
Judith Melki mostly deals with Genetics, Proband, Single-nucleotide polymorphism, Locus and Arthrogryposis multiplex congenita. Her Single-nucleotide polymorphism research includes elements of Amyotrophic lateral sclerosis and Pathology. Her studies deal with areas such as Tropomodulin, Cardiac muscle and Cell biology, Actin as well as Pathology.
Her studies in Locus integrate themes in fields like Gene mapping, Allele and Genotype. Her Arthrogryposis multiplex congenita research is multidisciplinary, relying on both Molecular biology and Frameshift mutation. Her Molecular biology research includes themes of Mutation and Axon.
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Identification and characterization of a spinal muscular atrophy-determining gene
Suzie Lefebvre;Lydie Bürglen;Sophie Reboullet;Olivier Clermont.
Correlation between severity and SMN protein level in spinal muscular atrophy.
Suzie Lefebvre;Philippe Burlet;Qing Liu;Solange Bertrandy.
Nature Genetics (1997)
Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits.
Hélène Puccio;Delphine Simon;Mireille Cossée;Paola Criqui-Filipe.
Nature Genetics (2001)
Peroxisome proliferator-activated receptor δ controls muscle development and oxydative capability
Serge Luquet;Joaquin Lopez-Soriano;Dorte Holst;Alexandre Fredenrich.
The FASEB Journal (2003)
Gene for Chronic Proximal Spinal Muscular Atrophies Maps To Chromosome-5q
J. Melki;S. Abdelhak;Peter Sheth;M. F. Bachelot.
Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.
Michael A van Es;Jan H Veldink;Christiaan G J Saris;Hylke M Blauw.
Nature Genetics (2009)
De novo and inherited deletions of the 5q13 region in spinal muscular atrophies.
Judith Melki;Suzie Lefebvre;Lydie Burglen;Philippe Burlet.
Structure and Organization of the Human Survival Motor Neurone (SMN) Gene
Lydie Bürglen;Suzie Lefebvre;Olivier Clermont;Philippe Burlet.
Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model
Carmen Cifuentes-Diaz;Sophie Nicole;Maria E. Velasco;Christophe Borra-Cebrian.
Human Molecular Genetics (2002)
A frame-shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients.
Elena Bussaglia;Olivier Clermont;Eduardo Tizzano;Suzie Lefebvre.
Nature Genetics (1995)
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