HEREDITARY SPASTIC PARAPLEGIA, A MITOCHONDRIOPATHY: MOLECULAR PATHOGENESIS AND THE ROLE OF PROTEIN QUALITY CONTROL IN MITOCHONDRIA

Pubblicazioni Scientifiche

• 2003 JOURNAL OF CELL BIOLOGY

  Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia

• 2001 BRAIN

  Autosomal dominant cortical myoclonus and epilepsy (ADCME) with complex partial and generalized seizures - A newly recognized epilepsy syndrome with linkage to chromosome 2p11,1-q.12.2

• 1999 SCIENCE

  Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption

• 1999 PEDIATRIC RESEARCH

  Gitelman disease associated with growth hormone deficiency, disturbances in vasopressin secretion and empty sella: A new hereditary renal tubular-pituitary syndrome?

• 2003 ANNALS OF NEUROLOGY

  Familial hemiplegic migraine type 2 is linked to 0.9Mb region on chromosome 1q23

• 2004 BIOINFORMATICS

  AntiHunter: searching BLAST output for EST antisense transcripts

• 2001 NEUROLOGY

  Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England

• 2003 NATURE GENETICS

  Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump alpha 2 subunit associated with familial hemiplegic migraine type 2