Giant axonal neuropathy

Handbook of Clinical Neurology - Tập 115 - Trang 933-938 - 2013
Fayçal Hentati1, Emna Hentati1, Rim Amouri1
1Department of Neurology, Institut National Mongi Ben Hamida de Neurologie, Medical Faculty of Tunis, Université El Manar, Tunis, Tunisia

Tài liệu tham khảo

Allen, 2005, Gigaxonin-controlled degradation of MAP1B light chain is critical to neuronal survival, Nature, 438, 224, 10.1038/nature04256 Ben Hamida, 1990, Giant axonal neuropathy with inherited multisystem degeneration in Tunisian kindred, Neurology, 40, 245, 10.1212/WNL.40.2.245 Ben Hamida, 1997, Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1, Neurogenetics, 129, 10.1007/s100480050019 Berg, 1972, Giant axonal neuropathy, Pediatrics, 49, 894, 10.1542/peds.49.6.894 Bomont, 2000, The gene encoding gigaxonin, a new member of the cytoskeletal BTB/kelch repeat family, is mutated in giant axonal neuropathy, Nature Genet, 26, 370, 10.1038/81701 Brenner, 2008, 3T MR with diffusion tensor imaging and single-voxel spectroscopy in giant axonal neuropathy, J Magn Reson Imaging, 28, 236, 10.1002/jmri.21425 Bruno, 2004, Clinical and molecular findings in patients with giant axonal neuropathy (GAN), Neurology, 62, 13, 10.1212/01.WNL.0000101676.41505.A7 Carpenter, 1974, Giant axonal neuropathy: a clinically and morphologically distinct neurological disease, Arch Neurol, 31, 312, 10.1001/archneur.1974.00490410060005 Cavalier, 2000, Giant axonal neuropathy locus refinement to a less than 590kb critical interval, Eur J Hum Genet, 8, 527, 10.1038/sj.ejhg.5200476 Demir, 2005, Giant axonal neuropathy: clinical and genetic study in six cases, J Neurol Neurosurg Psychiatry, 76, 825, 10.1136/jnnp.2003.035162 Donaghy, 1988, Giant axonal neuropathy: observations on a further patient, J. Neurol. Neurosurg. Psychiatry, 51, 991, 10.1136/jnnp.51.7.991 Guazzi, 1991, Giant axonal neuropathy in 2 siblings: a generalized disorder of intermediate filaments, Eur Neurol, 31, 50, 10.1159/000116646 Kretzschmar, 1987, Giant axonal neuropathy. A neuropathological study, Acta Neuropathol, 73, 138, 10.1007/BF00693779 Peiffer, 1977, Generalized giant axonal neuropathy. A filament-forming disease of neuronal, endothelial, glial and Schwann cells in a patient without kinky hair, Acta Neuropathol (Berl), 40, 213, 10.1007/BF00691956 Richen, 1992, Giant axonal neuropathy: progressive clinical and radiologic CNS involvement, Neurology, 42, 2220, 10.1212/WNL.42.11.2220-a Sabatelli, 1992, Giant axonal neuropathy: report of a case with focal fibre loss, Acta Neuropathol, 83, 543, 10.1007/BF00310034 Tazir, 2002, Genetic heterogeneity in giant axonal neuropathy: an Algerian family not linked to chromosome 16q24, Neuromuscul Disord, 12, 849, 10.1016/S0960-8966(02)00029-9 Tazir, 2009, Phenotypic variability in giant axonal neuropathy, Neuromuscul Disord, 19, 270, 10.1016/j.nmd.2009.01.011 Treiber-Held, 1994, Giant axonal neuropathy: a generalized disorder of intermediate filaments with longitudinal grooves in the hair, Neuropediatrics, 25, 89, 10.1055/s-2008-1071592 Vital, 1980 Zemmouri, 2000, Charcot–Marie–Tooth 2-like presentation of an Algerian family with giant axonal neuropathy, Neuromuscul Disord, 10, 592, 10.1016/S0960-8966(00)00141-3