Costanza Lamperti - Genetic Mutations

Author Information

Costanza Lamperti is affiliated with the Medical Genetics Neurogenetics Unit at the Fondazione IRCCS Istituto Neurologico Carlo Besta in Milan, Italy. Her extensive work in the field of genetics, particularly relating to mitochondrial diseases, has made significant contributions to clinical research and diagnostics.

Research Contributions

Costanza Lamperti's research primarily focuses on mitochondrial diseases, including their genetic underpinnings and clinical manifestations. In recent years, she has published influential papers on topics such as FAIR data standards in clinical research, guidelines for rare neurological diseases, and RNA sequencing for Mendelian disease diagnostics. Her work often involves collaboration with other experts to enhance understanding and treatment of mitochondrial myopathies and other related conditions.

Aliases

C Lamperti, C. Lamperti, Costanza Lamperti

Publication and Citation Metrics

Metric	Value
Total Citation Count	7645
H-index	49
Total Paper Count	184

Publications:

Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease

DOI: 10.1002/ggn2.202100047

Year: 2022

European Academy of Neurology guidance for developing and reporting clinical practice guidelines on rare neurological diseases.

DOI: 10.1111/ene.15267

Year: 2022

Biallelic Variants in ENDOG Associated with Mitochondrial Myopathy and Multiple mtDNA Deletions

DOI: 10.3390/cells11060974

Year: 2022

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

DOI: 10.1186/s13073-022-01019-9

Year: 2022

Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3

DOI: 10.1093/brain/awab238

Year: 2021

The m.3890G>A/MT-ND1 mtDNA rare pathogenic variant: expanding clinical and MRI phenotypes.

DOI: 10.1016/j.mito.2021.08.007

Year: 2021

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

DOI: 10.1101/2021.06.21.21259171

Year: 2021

Neuro-telehealth for fragile patients in a tertiary referral neurological institute during the COVID-19 pandemic in Milan, Lombardy

DOI: 10.1007/s10072-021-05252-9

Year: 2021

SARS-CoV-2 infection in patients with primary mitochondrial diseases: Features and outcomes in Italy

DOI: 10.1016/j.mito.2021.03.011

Year: 2021

Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial Diseases

DOI: 10.3390/jcm10102063

Year: 2021

How do Viral Vectors Work?

Where Do Neutral Mutations Typically Occur?

How is Hemoglobin Electrophoresis Used in Clinical Practice?

What is Genetic Sequencing?

What Are Developmental Disorders?

What Are the Treatment Options?

How Do Beneficial Mutations Spread in Populations?

What Types of Genetic Mutations Can Be Treated?

What is Brain Development?

How Are Insertion Mutations Detected?

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