What is she best known for?
The fields of study she is best known for:
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.
Her most cited work include:
- Identification and characterization of a spinal muscular atrophy-determining gene (2770 citations)
- Correlation between severity and SMN protein level in spinal muscular atrophy. (855 citations)
- Mouse models for Friedreich ataxia exhibit cardiomyopathy, sensory nerve defect and Fe-S enzyme deficiency followed by intramitochondrial iron deposits. (600 citations)
What are the main themes of her work throughout her whole career to date?
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.
She most often published in these fields:
- Genetics (51.16%)
- Spinal muscular atrophy (37.98%)
- Locus (24.81%)
What were the highlights of her more recent work (between 2013-2021)?
- Genetics (51.16%)
- Pathology (14.73%)
- Exome sequencing (6.20%)
In recent papers she was focusing on the following fields of 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.
Between 2013 and 2021, her most popular works were:
- Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy (129 citations)
- A genome-wide association meta-analysis identifies a novel locus at 17q11.2 associated with sporadic amyotrophic lateral sclerosis (93 citations)
- Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects (67 citations)
In her most recent research, the most cited papers focused on:
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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