Pilar Mazzetti
Biographic Data
| ID | 7982415 |
|---|---|
| NAME | Pilar Mazzetti |
| GIVEN NAMES | Pilar |
| FAMILY NAME | Mazzetti |
| SIGNATURE | MAZZETTI P |
| AFFILIATIONS | National University of San Marcos |
| ORCID | 0000-0002-4376-847X |
| VERIFIED | Yes |
| TOTAL WORKS | 5 |
| TOTAL CITATIONS | 0 |
| WORKS AS AUTHOR | 5 |
| WORKS AS EDITOR | 0 |
| FIRST PUBLICATION YEAR | 2014 |
| LATEST PUBLICATION YEAR | 2015 |
| H-INDEX | 0 |
Neurogenetics in Peru
Neurogenética en el Perú, ejemplo de investigación traslacional
Neurogenetics is an emerging discipline in Peru that links basic research with clinical practice. The Neurogenetics Research Center located in Lima, Peru is the only unit dedicated to the specialized care of neurogenetic diseases in the country. From the beginning, neurogenetics research has been closely linked to the study of Huntington s Disease (HD), from the PCR genotyping of the HTT gene, to the current haplogroup studies in HD. Research in …
Enfermedad de Kennedy en el Perú
Kennedy's disease is an X-linked recessive disorder with onset in adulthood, characterized by progressive degeneration of spinal motor neurons due to a dynamic mutation in the androgen receptor gene. We report three families (five cases) characterized by progressive weakness involving both limbs and bulbar muscles, atrophy, tremor, cramps and endocrinologic disturbances; the neurophysiological studies demonstrated second motor neuron impairment. …
Polimorfismo genético de la apolipoproteína E en una población peruana
Objectives. To determine the allelic and genotypic frequencies of the APOE gene in a sample of a population group in Peru. Materials and methods. Cross-sectional analytic study in 189 apparently healthy volunteers, workers of the Instituto Nacional de Ciencias Neurológicas in Lima, Perú, divided into 5 groups by birth department and two generations ancestry. Genomic DNA was amplified using PCR-RFLP. The resulting fragments were detected by 12 % p…
Rol del estado en los ensayos clínicos
The regulation of clinical trials by the Government is a process of continuous change and adaptation, current challenge is to ensure the safety of participants and get balance of administrative procedures. Development and regulation of clinical trials in different countries vary according to the situation, context national or international execution, determining the insufficiency of national regulation requiring review of international regulation…
No prominent works on this page.
Enfermedad de Kennedy en el Perú
Kennedy's disease is an X-linked recessive disorder with onset in adulthood, characterized by progressive degeneration of spinal motor neurons due to a dynamic mutation in the androgen receptor gene. We report three families (five cases) characterized by progressive weakness involving both limbs and bulbar muscles, atrophy, tremor, cramps and endocrinologic disturbances; the neurophysiological studies demonstrated second motor neuron impairment. …
Polimorfismo genético de la apolipoproteína E en una población peruana
Objectives. To determine the allelic and genotypic frequencies of the APOE gene in a sample of a population group in Peru. Materials and methods. Cross-sectional analytic study in 189 apparently healthy volunteers, workers of the Instituto Nacional de Ciencias Neurológicas in Lima, Perú, divided into 5 groups by birth department and two generations ancestry. Genomic DNA was amplified using PCR-RFLP. The resulting fragments were detected by 12 % p…
Rol del estado en los ensayos clínicos
The regulation of clinical trials by the Government is a process of continuous change and adaptation, current challenge is to ensure the safety of participants and get balance of administrative procedures. Development and regulation of clinical trials in different countries vary according to the situation, context national or international execution, determining the insufficiency of national regulation requiring review of international regulation…
Neurogenetics in Peru
Neurogenética en el Perú, ejemplo de investigación traslacional
Neurogenetics is an emerging discipline in Peru that links basic research with clinical practice. The Neurogenetics Research Center located in Lima, Peru is the only unit dedicated to the specialized care of neurogenetic diseases in the country. From the beginning, neurogenetics research has been closely linked to the study of Huntington s Disease (HD), from the PCR genotyping of the HTT gene, to the current haplogroup studies in HD. Research in …
Medicine (5 works) · Biology (3 works) · Disease (3 works) · Genetic Neurodegenerative Diseases (3 works) · Genetics (3 works) · Pathology (3 works) · Internal Medicine (2 works) · Neurogenetics (2 works) · Political science (2 works) · Population (2 works)