AIMP1/p43 mutation and PMLD

American Journal of Human Genetics

Volumn 88, Issue 3, 2011, Pages 391-

  Biancheri, Roberta ^a   Rossi, Andrea ^a   Zara, Federico ^a   Filocamo, Mirella ^a  

^a G GASLINI INSTITUTE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN P43;

AIMP1 GENE; ATAXIA; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN ATROPHY; CLINICAL FEATURE; DEGENERATIVE DISEASE; DISEASE COURSE; GENE; GENE MUTATION; GJA12 GENE; GJC2 GENE; HUMAN; LETTER; MOLECULAR GENETICS; MOTOR DYSFUNCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; NYSTAGMUS; PELIZAEUS MERZBACHER DISEASE; PERIPHERAL NEUROPATHY; PHENOTYPE; PONS; PRIORITY JOURNAL; SPASTICITY; WHITE MATTER;

CYTOKINES; ELECTROENCEPHALOGRAPHY; HUMANS; MUTATION; NEOPLASM PROTEINS; NEURODEGENERATIVE DISEASES; NEURONS; PELIZAEUS-MERZBACHER DISEASE; RNA-BINDING PROTEINS;

EID: 79952475106     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.02.003     Document Type: Letter

References (6)

1. Feinstein, M., Markus, B., Noyman, I., Shalev, H., Flusser, H., Shelef, I., Liani-Leibson, K., Shorer, Z., Cohen, I., Khateeb, S., et al. (2010). Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation. Am. J. Hum. Genet. 87, 820-828.
2. Uhlenberg, B., Schuelke, M., Rüschendorf, F., Ruf, N., Kaindl, A.M., Henneke, M., Thiele, H., Stoltenburg-Didinger, G., Aksu, F., Topaloǧlu, H., et al. (2004). Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Am. J. Hum. Genet. 75, 251-260.
3. Bugiani, M., Al Shahwan, S., Lamantea, E., Bizzi, A., Bakhsh, E., Moroni, I., Balestrini, M.R., Uziel, G., and Zeviani, M. (2006). GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy. Neurology 67, 273-279. (Pubitemid 44305412)
4. Steenweg, M.E., Vanderver, A., Blaser, S., Bizzi, A., de Koning, T.J., Mancini, G.M., van Wieringen, W.N., Barkhof, F., Wolf, N.I., and van der Knaap, M.S. (2010). Magnetic resonance imaging pattern recognition in hypomyelinating disorders. Brain 133, 2971-2982.
5. Hanefeld, F.A., Brockmann, K., Pouwels, P.J., Wilken, B., Frahm, J., and Dechent, P. (2005). Quantitative proton MRS of Pelizaeus-Merzbacher disease: Evidence of dys- and hypomyelination. Neurology 65, 701-706. (Pubitemid 41285848)
6. Schiffmann, R., and van der Knaap, M.S. (2009). Invited article: An MRI-based approach to the diagnosis of white matter disorders. Neurology 72, 750-759.