MUTATION DETECTION CORE

Pubblicazioni Scientifiche

• ANNALS OF NEUROLOGY

  On symptomatic heterozygous alpha-sarcoglycan gene mutation carriers

• 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

• CLINICAL CHEMISTRY

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

• CLINICAL GENETICS

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

• EUROPEAN JOURNAL OF HUMAN GENETICS

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

• EUROPEAN JOURNAL OF PEDIATRICS

  Calpain-3 mutations in Turkey

• EXPERIMENTAL CELL RESEARCH

  δ-Sarcoglycan is required for early zebrafish muscle organization

• HUMAN GENETICS

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

• HUMAN MUTATION

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

• JOURNAL OF BIOLOGICAL CHEMISTRY

  Reverse Engineering Gene Network Identifies New Dysferlin-interacting Proteins

• JOURNAL OF NEUROLOGY

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