MUTATION DETECTION CORE

Pubblicazioni Scientifiche

• 2006 EUROPEAN JOURNAL OF PEDIATRICS

  Calpain-3 mutations in Turkey

• 2003 CLINICAL CHEMISTRY

  Scanning for mutations of the ryanodine receptor (RYRI) gene by denaturing HPLC: Detection of three novel malignant hyperthermia alleles

• 2005 EXPERIMENTAL CELL RESEARCH

  delta-Sarcoglycan is required for early zebrafish muscle organization

• 2011 CLINICAL GENETICS

  Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families

• 2003 ANNALS OF NEUROLOGY

  On symptomatic heterozygous alpha-sarcoglycan gene mutation carriers

• 2003 EUROPEAN JOURNAL OF HUMAN GENETICS

  Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum

• 2011 JOURNAL OF BIOLOGICAL CHEMISTRY

  Reverse Engineering Gene Network Identifies New Dysferlin-interacting Proteins

• 2005 Blood

  The N-terminal 11 amino acids of human erythrocyte band 3 are critical for aldolase binding and protein phosphorylation: implications for band 3 function

• 2004 HUMAN MUTATION

  Sequence variations of the alpha-globlin genes: Scanning of high CG content genes with DHPLC and DG-DGGE

• 2006 JOURNAL OF NEUROLOGY

  A new POLG1 mutation with peo and severe axonal and demyelinating sensory-motor neuropathy

• 2003 HUMAN GENETICS

  Genetic heterogeneity of FG syndrome: a fourth locus (FGS4) maps to Xp11.4-p11.3 in an Italian family