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

Pubblicazioni Scientifiche

• ANNALS OF NEUROLOGY

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

• BIOINFORMATICS

  AntiHunter: searching BLAST output for EST antisense transcripts

• 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

• COMPUTER PHYSICS COMMUNICATIONS

  GMXPBSA 2.0: A GROMACS tool to perform MM/PBSA and computational alanine scanning

• EMBO JOURNAL

  GEMC1 is a critical regulator of multiciliated cell differentiation

• 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

• NATURE GENETICS

  Haploinsufficiency of ATP1A2 encoding the Na+/K+ pump α2 subunit associated with familial hemiplegic migraine type 2

• NEUROLOGY

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

• PEDIATRIC RESEARCH

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

• SCIENCE

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