-
2
-
-
0021871731
-
Giant axonal neuropathy, endocrinological and histological studies
-
Fois A, Balestri P, Farnitani MA, Berardi R, Mattei R, Laurenzi E, Alessandrini C, Gerli R, Ribuffo A, Calvieri S. (1985) Giant axonal neuropathy, endocrinological and histological studies. Eur J Pediatr 144: 274-280.
-
(1985)
Eur. J. Pediatr.
, vol.144
, pp. 274-280
-
-
Fois, A.1
Balestri, P.2
Farnitani, M.A.3
Berardi, R.4
Mattei, R.5
Laurenzi, E.6
Alessandrini, C.7
Gerli, R.8
Ribuffo, A.9
Calvieri, S.10
-
3
-
-
0024385737
-
Giant axonal neuropathy. A review
-
Ouvrier RA. (1989) Giant axonal neuropathy. A review. Brain Dev 11: 207-214.
-
(1989)
Brain Dev.
, vol.11
, pp. 207-214
-
-
Ouvrier, R.A.1
-
4
-
-
0026448898
-
Giant axonal neuropathy: Progressive clinical and radiological CNS involvement
-
Richen P, Tandan R. (1992) Giant axonal neuropathy: progressive clinical and radiological CNS involvement. Neurology 42: 2220-2222.
-
(1992)
Neurology
, vol.42
, pp. 2220-2222
-
-
Richen, P.1
Tandan, R.2
-
5
-
-
0026599454
-
Giant axonal neuropathy with predominant central nervous system manifestations
-
Lampl Y, Eshel Y, Ben-David E, Gilad R, Sarova-Pinhas I, Sandbank U. (1992) Giant axonal neuropathy with predominant central nervous system manifestations. Dev Med Child Neurol 34: 164-169.
-
(1992)
Dev. Med. Child. Neurol.
, vol.34
, pp. 164-169
-
-
Lampl, Y.1
Eshel, Y.2
Ben-David, E.3
Gilad, R.4
Sarova-Pinhas, I.5
Sandbank, U.6
-
7
-
-
0032581171
-
Giant axonal neuropathy with subclinical involvement of the central nervous system
-
Malandrini A, Dottu MT, Battisti C, Villanova M, Capocchi G, Frederico A. (1998) Giant axonal neuropathy with subclinical involvement of the central nervous system. J Neurol Sci 156: 232-235.
-
(1998)
J. Neurol. Sci.
, vol.156
, pp. 232-235
-
-
Malandrini, A.1
Dottu, M.T.2
Battisti, C.3
Villanova, M.4
Capocchi, G.5
Frederico, A.6
-
8
-
-
0025271221
-
Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred
-
Ben Hamida M, Hentati F, Ben Hamida C. (1990) Giant axonal neuropathy with inherited multisystem degeneration in a Tunisian kindred. Neurology 40: 245-250.
-
(1990)
Neurology
, vol.40
, pp. 245-250
-
-
Ben Hamida, M.1
Hentati, F.2
Ben Hamida, C.3
-
9
-
-
0025764208
-
Anaesthesia for a patient with giant axonal neuropathy
-
Mitchell A, Moskovits PE. (1991) Anaesthesia for a patient with giant axonal neuropathy. Anaesthesia 46: 460-470.
-
(1991)
Anaesthesia
, vol.46
, pp. 460-470
-
-
Mitchell, A.1
Moskovits, P.E.2
-
10
-
-
0037867811
-
Giant axonal neuropathy and anaesthesia
-
Diagos P, Box JAG, Verrips A, Booij LHDJ, St Radbbouuud UMC. (2003) Giant axonal neuropathy and anaesthesia. Anaesthesia 58: 723-724.
-
(2003)
Anaesthesia
, vol.58
, pp. 723-724
-
-
Diagos, P.1
Box, J.A.G.2
Verrips, A.3
Booij, L.H.D.J.4
St Radbbouuud, U.M.C.5
-
11
-
-
0025147917
-
Giant axonal neuropathy: Clinical, electrophysiologic, and neuropathologic features in two siblings
-
Kumar K, Barre P, Nigro M, Jones MZ. (1990) Giant axonal neuropathy: clinical, electrophysiologic, and neuropathologic features in two siblings. J Child Neurol 5: 229-234.
-
(1990)
J. Child. Neurol.
, vol.5
, pp. 229-234
-
-
Kumar, K.1
Barre, P.2
Nigro, M.3
Jones, M.Z.4
-
12
-
-
0024316666
-
Neuropathie à axones géants: Maladie des filaments intermédiares avec atteinte du système nerveux pé riphérique et central
-
(Paris) (In French)
-
Buissonnière RF, Routon MC, Robain O, Ponsot G, Arthuis M. (1989) Neuropathie à axones géants: maladie des filaments intermédiares avec atteinte du système nerveux pé riphérique et central. Rev Neurol (Paris) 145: 355-361. (In French)
-
(1989)
Rev. Neurol.
, vol.145
, pp. 355-361
-
-
Buissonnière, R.F.1
Routon, M.C.2
Robain, O.3
Ponsot, G.4
Arthuis, M.5
-
13
-
-
0034807757
-
The giant axonal neuropathy - Clinical and histological aspects, differential diagnosis and a new case
-
Nafe R, Trollmann R, Schiote W. (2001) The giant axonal neuropathy - clinical and histological aspects, differential diagnosis and a new case. Clin Neuropathol 20: 200-211.
-
(2001)
Clin. Neuropathol.
, vol.20
, pp. 200-211
-
-
Nafe, R.1
Trollmann, R.2
Schiote, W.3
-
14
-
-
0026506032
-
Giant axonal neuropathy: Report of a case with focal fibre loss
-
Sabatelli M, Bertini E, Servidei S, Fernander E, Magi S, Tonali R. (1992) Giant axonal neuropathy: report of a case with focal fibre loss. Acta Neuropathol 83: 543-546.
-
(1992)
Acta Neuropathol.
, vol.83
, pp. 543-546
-
-
Sabatelli, M.1
Bertini, E.2
Servidei, S.3
Fernander, E.4
Magi, S.5
Tonali, R.6
-
15
-
-
0023949627
-
Giant axonal disease: Report of three cases and review of the literature
-
Maia M, Pires MM, Guimaräes A. (1988) Giant axonal disease: report of three cases and review of the literature. Neuropediatrics 19: 10-15.
-
(1988)
Neuropediatrics
, vol.19
, pp. 10-15
-
-
Maia, M.1
Pires, M.M.2
Guimaräes, A.3
-
17
-
-
0023198194
-
Giant axonal neuropathy: Correlation of clinical findings with postmortem neuropathology
-
Thomas C, Love S, Powell HC, Schulz P, Lampert PW. (1987) Giant axonal neuropathy: correlation of clinical findings with postmortem neuropathology. Ann Neurol 22: 79-84.
-
(1987)
Ann. Neurol.
, vol.22
, pp. 79-84
-
-
Thomas, C.1
Love, S.2
Powell, H.C.3
Schulz, P.4
Lampert, P.W.5
-
18
-
-
0031767506
-
A case of giant axonal neuropathy showing focal aggregation and hypophosphorylation of intermediate filaments
-
Mohri I, Taniike M, Yoshikawa H, Higashiyama M, Itami S, Okada S. (1998) A case of giant axonal neuropathy showing focal aggregation and hypophosphorylation of intermediate filaments. Brain Dev 20: 594-597.
-
(1998)
Brain Dev.
, vol.20
, pp. 594-597
-
-
Mohri, I.1
Taniike, M.2
Yoshikawa, H.3
Higashiyama, M.4
Itami, S.5
Okada, S.6
-
19
-
-
0028334489
-
Giant axonal neuropathy: A generalized disorder of intermediate filaments with longitudinal grooves in the hair
-
Treiber-Held S, Budjarjo-Welim H, Riemann D, Richter J, Kretzschmar HA, Hanafeld F. (1994) Giant axonal neuropathy: a generalized disorder of intermediate filaments with longitudinal grooves in the hair. Neuropediatrics 25: 89-93.
-
(1994)
Neuropediatrics
, vol.25
, pp. 89-93
-
-
Treiber-Held, S.1
Budjarjo-Welim, H.2
Riemann, D.3
Richter, J.4
Kretzschmar, H.A.5
Hanafeld, F.6
-
20
-
-
0032842692
-
Extracerebral biopsies in neurodegenerative diseases of childhood
-
Goebel HH. (1999) Extracerebral biopsies in neurodegenerative diseases of childhood. Brain Dev 21: 435-443.
-
(1999)
Brain Dev.
, vol.21
, pp. 435-443
-
-
Goebel, H.H.1
-
21
-
-
0025818039
-
Advanced stage of giant axonal neuropathy
-
Fukunaga H, Osame M, Izumo S, Nakagawa M, Wakimoto J. (1991) Advanced stage of giant axonal neuropathy. Clin Neurol 31: 516-522.
-
(1991)
Clin. Neurol.
, vol.31
, pp. 516-522
-
-
Fukunaga, H.1
Osame, M.2
Izumo, S.3
Nakagawa, M.4
Wakimoto, J.5
-
23
-
-
0022588048
-
Giant axonal neuropathy: Central abnormalities demonstrated by evoked potentials
-
Mainemer A, Rosenblatt B, Watters G, Andermann F. (1986) Giant axonal neuropathy: central abnormalities demonstrated by evoked potentials. Ann Neurol 19: 394-396.
-
(1986)
Ann. Neurol.
, vol.19
, pp. 394-396
-
-
Mainemer, A.1
Rosenblatt, B.2
Watters, G.3
Andermann, F.4
-
24
-
-
0026064007
-
Giant axonal neuropathy in 2 siblings: A generalized disorder of intermediate filaments
-
Guazzi GC, Malandrini A, Gerli R, Federico A. (1991) Giant axonal neuropathy in 2 siblings: a generalized disorder of intermediate filaments. Eur Neurol 31: 50-56.
-
(1991)
Eur. Neurol.
, vol.31
, pp. 50-56
-
-
Guazzi, G.C.1
Malandrini, A.2
Gerli, R.3
Federico, A.4
-
25
-
-
0023521469
-
Childhood giant axonal neuropathy. Case report and review of the literature
-
Tandan R, Little BW, Emery ES, Good PS, Pendlebury WW, Bradley WG. (1987) Childhood giant axonal neuropathy. Case report and review of the literature. J Neurol Sci 82: 205-228.
-
(1987)
J. Neurol. Sci.
, vol.82
, pp. 205-228
-
-
Tandan, R.1
Little, B.W.2
Emery, E.S.3
Good, P.S.4
Pendlebury, W.W.5
Bradley, W.G.6
-
26
-
-
0023693250
-
Giant axonal neuropathy: Observations on a further patient
-
Donaghy M, Brett EM, Ormerod IEC, King RHM, Thomas PK. (1988) Giant axonal neuropathy: observations on a further patient. J Neurol Neurosurg Psychiatry 51: 991-994.
-
(1988)
J. Neurol. Neurosurg. Psychiatry
, vol.51
, pp. 991-994
-
-
Donaghy, M.1
Brett, E.M.2
Ormerod, I.E.C.3
King, R.H.M.4
Thomas, P.K.5
-
28
-
-
0037245448
-
Cerebral proton magnetic resonance spectroscopy of a patient with giant axonal neuropathy
-
Brockmann K, Pouwels PJW, Dechent P, Flanigan KM, Frahm J, Hanefeld F. (2003) Cerebral proton magnetic resonance spectroscopy of a patient with giant axonal neuropathy. Brain Dev 25: 45-50.
-
(2003)
Brain Dev.
, vol.25
, pp. 45-50
-
-
Brockmann, K.1
Pouwels, P.J.W.2
Dechent, P.3
Flanigan, K.M.4
Frahm, J.5
Hanefeld, F.6
-
29
-
-
0036890420
-
Infantile neuroaxonal dystrophy (Seitelberger's disease)
-
Gordon N. (2002) infantile neuroaxonal dystrophy (Seitelberger's disease). Dev Med Child Neurol 44: 849-851.
-
(2002)
Dev. Med. Child. Neurol.
, vol.44
, pp. 849-851
-
-
Gordon, N.1
-
30
-
-
0033821994
-
Infantile neuroaxonal dystrophy and giant axonal neuropathy - Overlap diseases of neuronal cytoskeletal elements in childhood?
-
Mahadevan A, Santosh V, Gayatri N, Ratnavalli E, NandaGopal R, Vasanth A, Roy AK, Shankar SK. (2000) Infantile neuroaxonal dystrophy and giant axonal neuropathy - overlap diseases of neuronal cytoskeletal elements in childhood? Clin Neuropathol 19: 221-229.
-
(2000)
Clin. Neuropathol.
, vol.19
, pp. 221-229
-
-
Mahadevan, A.1
Santosh, V.2
Gayatri, N.3
Ratnavalli, E.4
NandaGopal, R.5
Vasanth, A.6
Roy, A.K.7
Shankar, S.K.8
-
32
-
-
0033792597
-
Chacot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy
-
Zemmouri R, Azzedine H, Assami S, Kitouni N, Vallat JM, Maisonobe T, Hamadouche T, Kessaci M, Mansouri B, Le Guern E, Grid D, Tazir M. (2000) Chacot-Marie-Tooth 2-like presentation of an Algerian family with giant axonal neuropathy. Neuromuscul Disord 10: 592-598.
-
(2000)
Neuromuscul. Disord.
, vol.10
, pp. 592-598
-
-
Zemmouri, R.1
Azzedine, H.2
Assami, S.3
Kitouni, N.4
Vallat, J.M.5
Maisonobe, T.6
Hamadouche, T.7
Kessaci, M.8
Mansouri, B.9
Le Guern, E.10
Grid, D.11
Tazir, M.12
-
33
-
-
0031215451
-
Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1
-
Ben Hamida C, Cavalier L, Belai S, Sanhaji H, Nadal N, Barhourni C, M'Rissa N, Marzouki N, Mandel J-L, Ben Hamida M, Koenig M, Hentati F. (1997) Homozygosity mapping of giant axonal neuropathy gene to chromosome 16q24.1. Neurogenetics 1: 129-133.
-
(1997)
Neurogenetics
, vol.1
, pp. 129-133
-
-
Ben Hamida, C.1
Cavalier, L.2
Belai, S.3
Sanhaji, H.4
Nadal, N.5
Barhourni, C.6
M'Rissa, N.7
Marzouki, N.8
Mandel, J.-L.9
Ben Hamida, M.10
Koenig, M.11
Hentati, F.12
-
34
-
-
0031916862
-
Localization of the giant axonal neuropathy gene to chromosome 16q24
-
Flanigan KM, Crawford TO, Griffin JW, Goebel HH, Kohlschütter A, Ranells J, Camfield PR, Prácek LJ. (1998) Localization of the giant axonal neuropathy gene to chromosome 16q24. Ann Neurol 43: 143-148.
-
(1998)
Ann. Neurol.
, vol.43
, pp. 143-148
-
-
Flanigan, K.M.1
Crawford, T.O.2
Griffin, J.W.3
Goebel, H.H.4
Kohlschütter, A.5
Ranells, J.6
Camfield, P.R.7
Prácek, L.J.8
-
35
-
-
0036837235
-
Genetic heterogeneity in giant axonal neuropathy: An Algerian family not linked to chromosome 16q24.1
-
Tazir M, Vallat JM, Bomont P, Zemmouri R, Sindon P, Assami S, Nouioua S, Hammadouche T, Grid D, Koenig M. (2002) Genetic heterogeneity in giant axonal neuropathy: an Algerian family not linked to chromosome 16q24.1. Neuromuscul Disord 12: 849-852.
-
(2002)
Neuromuscul. Disord.
, vol.12
, pp. 849-852
-
-
Tazir, M.1
Vallat, J.M.2
Bomont, P.3
Zemmouri, R.4
Sindon, P.5
Assami, S.6
Nouioua, S.7
Hammadouche, T.8
Grid, D.9
Koenig, M.10
-
36
-
-
0028903963
-
Giant axonal neuropathy in a child with insulin-dependent diabetes mellitus
-
Hoffman WH, Carroll JE, Perry GY, Hartlage PL, Kaminer SJ, Flowers NC, Oh SJ, Kelly DR. (1995) Giant axonal neuropathy in a child with insulin-dependent diabetes mellitus. J Child Neurol 10: 250-252.
-
(1995)
J. Child. Neurol.
, vol.10
, pp. 250-252
-
-
Hoffman, W.H.1
Carroll, J.E.2
Perry, G.Y.3
Hartlage, P.L.4
Kaminer, S.J.5
Flowers, N.C.6
Oh, S.J.7
Kelly, D.R.8
-
37
-
-
0033763056
-
The gene encoding gigaxonin, a new member of the cytoskeletal BTB/ketch repeat family, is mutated in giant axonal neuropathy
-
Bomont P, Cavalier L, Blondeau F, Ben Hamida C, Belal S, Tazir M, Demir E, Topaloglu H, Korinthenberg R, Tüysüz B, Landrieu P, Hentati F, Koenin M. (2000) The gene encoding gigaxonin, a new member of the cytoskeletal BTB/ketch repeat family, is mutated in giant axonal neuropathy. Nat Genet 26: 370-374.
-
(2000)
Nat. Genet.
, vol.26
, pp. 370-374
-
-
Bomont, P.1
Cavalier, L.2
Blondeau, F.3
Ben Hamida, C.4
Belal, S.5
Tazir, M.6
Demir, E.7
Topaloglu, H.8
Korinthenberg, R.9
Tüysüz, B.10
Landrieu, P.11
Hentati, F.12
Koenin, M.13
-
38
-
-
0037389668
-
Identification of seven novel mutations in the GAN gene
-
(Abstract)
-
Bomont P, Ioos C, Yalcinkaya C, Korinthenberg R, Vallat JM, Assami S, Munnich A, Chabrol B, Kurlemann G, Tazir M, Koenig M. (2003) Identification of seven novel mutations in the GAN gene. Hum Mutat 21: 446. (Abstract)
-
(2003)
Hum. Mutat.
, vol.21
, pp. 446
-
-
Bomont, P.1
Ioos, C.2
Yalcinkaya, C.3
Korinthenberg, R.4
Vallat, J.M.5
Assami, S.6
Munnich, A.7
Chabrol, B.8
Kurlemann, G.9
Tazir, M.10
Koenig, M.11
-
39
-
-
0037161247
-
Giant axonal neuropathy (GAN): Case report and two novel mutations in the gigaxonin gene
-
Kuhlenbäumer G, Young P, Oberwittler C, Hüermund G, Schirmacher A, Domschke K, Ringelstein B, Stögbauer F. (2002) Giant axonal neuropathy (GAN): case report and two novel mutations in the gigaxonin gene. Neurology 58: 1273-1276.
-
(2002)
Neurology
, vol.58
, pp. 1273-1276
-
-
Kuhlenbäumer, G.1
Young, P.2
Oberwittler, C.3
Hüermund, G.4
Schirmacher, A.5
Domschke, K.6
Ringelstein, B.7
Stögbauer, F.8
-
40
-
-
0036327344
-
Microtubule-associated protein 1B: A neuronal binding partner for gigaxonin
-
Ding J, Liu J-J, Kowal AS, Nardine T, Bhattacharya P, Lee A, Yang Y. (2002) Microtubule-associated protein 1B: a neuronal binding partner for gigaxonin. J Cell Biol 158: 427-433.
-
(2002)
J. Cell. Biol.
, vol.158
, pp. 427-433
-
-
Ding, J.1
Liu, J.-J.2
Kowal, A.S.3
Nardine, T.4
Bhattacharya, P.5
Lee, A.6
Yang, Y.7
-
41
-
-
0025105117
-
Giant axonal neuropathy: Studies with sulfhydryl donor compounds
-
Tandan R, Bradly WG, Fillyaw MJ. (1990) Giant axonal neuropathy: studies with sulfhydryl donor compounds. J Neurol Sci 95: 153-162.
-
(1990)
J. Neurol. Sci.
, vol.95
, pp. 153-162
-
-
Tandan, R.1
Bradly, W.G.2
Fillyaw, M.J.3
|