D-Index & Metrics Best Publications

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name D-index D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines. Citations Publications World Ranking National Ranking
Biology and Biochemistry D-index 40 Citations 6,517 81 World Ranking 16618 National Ranking 452

Overview

What is she best known for?

The fields of study she is best known for:

  • Gene
  • Internal medicine
  • Mutation

Her main research concerns Mitochondrion, Mitochondrial DNA, Genetics, Molecular biology and Mutation. Her Mitochondrion study incorporates themes from Mitochondrial optic neuropathies and Retinal ganglion. Her studies deal with areas such as Respiratory chain and ATP synthase as well as Mitochondrial DNA.

Her study looks at the relationship between Genetics and fields such as Neurodegeneration, as well as how they intersect with chemical problems. Her biological study spans a wide range of topics, including Oxidative stress, Leber's hereditary optic neuropathy, Retinal ganglion cell, Glutathione and Glutathione reductase. As part of the same scientific family, Andrea Martinuzzi usually focuses on Mutation, concentrating on Oxidative phosphorylation and intersecting with Cell culture, Frameshift mutation, Nuclear DNA and Allotopic expression.

Her most cited work include:

  • MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts. (412 citations)
  • MELAS: Clinical features, biochemistry, and molecular genetics (406 citations)
  • Homotypic fusion of ER membranes requires the dynamin-like GTPase Atlastin (337 citations)

What are the main themes of her work throughout her whole career to date?

Andrea Martinuzzi focuses on Internal medicine, Genetics, Mitochondrial DNA, Physical therapy and Mitochondrion. Her study looks at the intersection of Internal medicine and topics like Endocrinology with In vivo. Her Genetics study is mostly concerned with Mutation, Gene, Point mutation, Mutant and Missense mutation.

Her work in Point mutation addresses issues such as Leber's hereditary optic neuropathy, which are connected to fields such as Apoptosis. Her Mitochondrial DNA research incorporates themes from Respiratory chain and Pathology. Her research in Mitochondrion intersects with topics in Molecular biology, Mitochondrial optic neuropathies, ATP synthase and Mitochondrial disease.

She most often published in these fields:

  • Internal medicine (16.51%)
  • Genetics (16.51%)
  • Mitochondrial DNA (11.93%)

What were the highlights of her more recent work (between 2014-2021)?

  • Physical therapy (11.47%)
  • Pediatrics (5.96%)
  • Cerebral palsy (5.96%)

In recent papers she was focusing on the following fields of study:

Her scientific interests lie mostly in Physical therapy, Pediatrics, Cerebral palsy, Public health and Hereditary spastic paraplegia. Her Physical therapy study integrates concerns from other disciplines, such as Physical medicine and rehabilitation and Anxiety. Her research investigates the connection between Public health and topics such as Observational study that intersect with problems in Population ageing and Quality of life.

Her work carried out in the field of Hereditary spastic paraplegia brings together such families of science as Paraplegia, Disease progression, Diagnostic marker and Neuroimaging. To a larger extent, she studies Internal medicine with the aim of understanding Pulmonary function testing. The Internal medicine study combines topics in areas such as Gastroenterology and Placebo.

Between 2014 and 2021, her most popular works were:

  • Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial. (47 citations)
  • Determinants of Quality of Life in Ageing Populations: Results from a Cross-Sectional Study in Finland, Poland and Spain (42 citations)
  • Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis. (33 citations)

In her most recent research, the most cited papers focused on:

  • Gene
  • Internal medicine
  • Enzyme

Andrea Martinuzzi spends much of her time researching Physical medicine and rehabilitation, Genetics, Hereditary spastic paraplegia, Physical therapy and Randomized controlled trial. Her Physical medicine and rehabilitation research is multidisciplinary, incorporating perspectives in Alternative medicine, Applied psychology and International Classification of Functioning, Disability and Health. Her Genetics research focuses on Missense mutation, Penetrance, Mitochondrial DNA, KIF1A and Phenotype.

Her Missense mutation study incorporates themes from Haplogroup, Haplotype, Leber's hereditary optic neuropathy and Point mutation. Her Hereditary spastic paraplegia research incorporates elements of Paraplegia, Colpocephaly, Pediatrics and Spastic diplegia. Her Physical therapy study combines topics from a wide range of disciplines, such as Gastroenterology and Internal medicine, Atorvastatin.

This overview was generated by a machine learning system which analysed the scientist’s body of work. If you have any feedback, you can contact us here.

Best Publications

MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts.

A. Chomyn;A. Martinuzzi;M. Yoneda;A. Daga.
Proceedings of the National Academy of Sciences of the United States of America (1992)

630 Citations

MELAS: Clinical features, biochemistry, and molecular genetics

E. Ciafaloni;E. Ricci;S. Shanske;C. T. Moraes.
Annals of Neurology (1992)

562 Citations

Homotypic fusion of ER membranes requires the dynamin-like GTPase Atlastin

Genny Orso;Diana Pendin;Song Liu;Jessica Tosetto.
Nature (2009)

395 Citations

Applying the International Classification of Functioning, Disability and Health (ICF) to measure childhood disability

Rune J. Simeonsson;Mathilde Leonardi;Don Lollar;Eva Björck-Åkesson.
Disability and Rehabilitation (2003)

385 Citations

Complex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial oxidative damage

Celine Perier;Kim Tieu;Christelle Guégan;Casper Caspersen.
Proceedings of the National Academy of Sciences of the United States of America (2005)

318 Citations

Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy

Makoto Yoneda;Anne Chomyn;Andrea Martinuzzi;Orest Hurko.
Proceedings of the National Academy of Sciences of the United States of America (1992)

299 Citations

Rescue of a mitochondrial deficiency causing Leber hereditary optic neuropathy

John Guy;Xiaoping Qi;Francesco Pallotti;Eric A. Schon.
Annals of Neurology (2002)

275 Citations

Oestrogens ameliorate mitochondrial dysfunction in Leber’s hereditary optic neuropathy

Carla Giordano;Monica Montopoli;Elena Perli;Maurizia Orlandi.
Brain (2011)

215 Citations

Defective Oxidative Phosphorylation in Thyroid Oncocytic Carcinoma Is Associated with Pathogenic Mitochondrial DNA Mutations Affecting Complexes I and III

Elena Bonora;Anna Maria Porcelli;Giuseppe Gasparre;Annalisa Biondi.
Cancer Research (2006)

210 Citations

Leber's Hereditary Optic Neuropathy (LHON) Pathogenic Mutations Induce Mitochondrial-dependent Apoptotic Death in Transmitochondrial Cells Incubated with Galactose Medium

Anna Ghelli;Claudia Zanna;Anna Maria Porcelli;Anthony H.V. Schapira.
Journal of Biological Chemistry (2003)

190 Citations

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