Search filters

List of works by Marco Crimi

A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.

scientific article

Building awareness on genetic counselling: the launch of Italian Association of Genetic Counsellors (AIGeCo)

scientific article published on 18 August 2020

Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence)

scientific article published on 05 August 2020

Developmental and tissue-specific regulation of a novel dysferlin isoform.

scientific article published in September 2004

Dual role of anti-TNF therapy: Enhancement of TCR-mediated T cell activation in peripheral blood and inhibition of inflammation in target tissues

article

Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients

scientific article published in October 2002

Genetic variation in the interleukin -28B gene is not associated with fibrosis progression in patients with chronic hepatitis C and known date of infection

article

Heteroplasmy of mouse mtDNA is genetically unstable and results in altered behavior and cognition

scientific article

High mutational burden in the mtDNA control region from aged muscles: a single-fiber study

scientific article published in October 2003

Mitochondrial-DNA nucleotides G4298A and T10010C as pathogenic mutations: the confirmation in two new cases

scientific article published in April 2004

New mutations in TK2 gene associated with mitochondrial DNA depletion.

scientific article published in March 2006

POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions

scientific article published on 17 November 2003

Retinoic acid-induced neuritogenesis of human neuroblastoma SH-SY5Y cells is ERK independent and PKC dependent

scientific article published on January 2004

Skeletal muscle gene expression profiling in mitochondrial disorders.

scientific article published on 23 February 2005

Vascular endothelial growth factor gene variability is associated with increased risk for AD.

scientific article published in March 2005

Paulina is supported by:

About Paulina

Help