-
1
-
-
0002649152
-
Sur la névrite interstitielle hypertrophique et progressive de l'enfance
-
Dejerine J, Sottas J (1893) Sur la névrite interstitielle hypertrophique et progressive de l'enfance. Comp Rend Seanc Soc Biol 45:63-96
-
(1893)
Comp Rend Seanc Soc Biol
, vol.45
, pp. 63-96
-
-
Dejerine, J.1
Sottas, J.2
-
2
-
-
0000907007
-
Charcot-Marie-Tooth peripheral neuropathies and related disorders
-
Scriver CR, et al. (eds) McGraw-Hill, New York
-
th edition. McGraw-Hill, New York pp 5759-5788
-
(2001)
th Edition
, pp. 5759-5788
-
-
Lupski, J.R.1
Garcia, C.A.2
-
3
-
-
0025294738
-
The electrophysiologic profile of Dejerine-Sottas disease (HMSN III)
-
Benstead TJ, Kuntz NL, Miller RG, Daube JR (1990) The electrophysiologic profile of Dejerine-Sottas disease (HMSN III). Muscle Nerve 13:586-592
-
(1990)
Muscle Nerve
, vol.13
, pp. 586-592
-
-
Benstead, T.J.1
Kuntz, N.L.2
Miller, R.G.3
Daube, J.R.4
-
4
-
-
0023127966
-
The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood
-
Ouvrier RA, McLeod JG, Conchin TE (1987) The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood. Brain 110:121-148
-
(1987)
Brain
, vol.110
, pp. 121-148
-
-
Ouvrier, R.A.1
McLeod, J.G.2
Conchin, T.E.3
-
6
-
-
0019925158
-
Congenital hypomyelination polyneuropathy. Pathological findings compared with polyneuropathies starting later in life
-
Guzzetta F, Ferriére G, Lyon G (1982) Congenital hypomyelination polyneuropathy. Pathological findings compared with polyneuropathies starting later in life. Brain 105:395-416
-
(1982)
Brain
, vol.105
, pp. 395-416
-
-
Guzzetta, F.1
Ferriére, G.2
Lyon, G.3
-
7
-
-
0027422165
-
De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)
-
Hayasaka K, Himoro M, Sawaishi Y, Nanao K, Takahashi T, Takada G, Nicholson GA, Ouvrier RA, Tachi N (1993) De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nat Genet 5:266-268
-
(1993)
Nat Genet
, vol.5
, pp. 266-268
-
-
Hayasaka, K.1
Himoro, M.2
Sawaishi, Y.3
Nanao, K.4
Takahashi, T.5
Takada, G.6
Nicholson, G.A.7
Ouvrier, R.A.8
Tachi, N.9
-
8
-
-
0029880857
-
A novel homozygous mutation of the myelin Po gene producing Dejerine- Sottas disease (hereditary motor and sensory neuropathy type III)
-
Ikegami T, Nicholson G, Ikeda H, Ishida A, Johnston H, Wise G, Ouvrier R, Hayasaka K (1996) A novel homozygous mutation of the myelin Po gene producing Dejerine- Sottas disease (hereditary motor and sensory neuropathy type III). Biochem Biophys Res Commun 222:107-110
-
(1996)
Biochem Biophys Res Commun
, vol.222
, pp. 107-110
-
-
Ikegami, T.1
Nicholson, G.2
Ikeda, H.3
Ishida, A.4
Johnston, H.5
Wise, G.6
Ouvrier, R.7
Hayasaka, K.8
-
9
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
Lupski JR, Oca-Luna RM de, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia C A, Chakravarti A, Patel PI (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66:219-232
-
(1991)
Cell
, vol.66
, pp. 219-232
-
-
Lupski, J.R.1
De Oca-Luna, R.M.2
Slaugenhaupt, S.3
Pentao, L.4
Guzzetta, V.5
Trask, B.J.6
Saucedo-Cardenas, O.7
Barker, D.F.8
Killian, J.M.9
Garcia, C.A.10
Chakravarti, A.11
Patel, P.I.12
-
10
-
-
0032948117
-
Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies
-
Nelis E, Haites N, Van Broeckhoven C (1999) Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies. Hum Mutat 13:11-28
-
(1999)
Hum Mutat
, vol.13
, pp. 11-28
-
-
Nelis, E.1
Haites, N.2
Van Broeckhoven, C.3
-
12
-
-
0027486810
-
Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene
-
Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR (1993) Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet 5:269-273
-
(1993)
Nat Genet
, vol.5
, pp. 269-273
-
-
Roa, B.B.1
Dyck, P.J.2
Marks, H.G.3
Chance, P.F.4
Lupski, J.R.5
-
13
-
-
16044362374
-
0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination
-
0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron 17:451-460
-
(1996)
Neuron
, vol.17
, pp. 451-460
-
-
Warner, L.E.1
Hiz, M.J.2
Appel, S.H.3
Killian, J.M.4
Kolodny, E.H.5
Karpati, G.6
Carpenter, S.7
Watters, G.V.8
Wheeler, C.9
Witt, D.10
Bodell, A.11
Nelis, E.12
Van Broeckhoven, C.13
Lupski, J.R.14
-
14
-
-
0018390264
-
Homozygous expression of a dominant gene for Charcot-Marie-Tooth neuropathy
-
Killian JM, Kloepfer HW (1979) Homozygous expression of a dominant gene for Charcot-Marie-Tooth neuropathy. Ann Neurol 5:515-522
-
(1979)
Ann Neurol
, vol.5
, pp. 515-522
-
-
Killian, J.M.1
Kloepfer, H.W.2
-
16
-
-
0035121784
-
Periaxin mutations cause recessive Dejerine-Sottas neuropathy
-
Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR (2001) Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet 68:325-333
-
(2001)
Am J Hum Genet
, vol.68
, pp. 325-333
-
-
Boerkoel, C.F.1
Takashima, H.2
Stankiewicz, P.3
Garcia, C.A.4
Leber, S.M.5
Rhee-Morris, L.6
Lupski, J.R.7
-
17
-
-
0031943222
-
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
-
Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR (1998) Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet 18:382-384
-
(1998)
Nat Genet
, vol.18
, pp. 382-384
-
-
Warner, L.E.1
Mancias, P.2
Butler, I.J.3
McDonald, C.M.4
Keppen, L.5
Koob, K.G.6
Lupski, J.R.7
-
18
-
-
0033015744
-
Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype
-
Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Löfgren A, Nelis E, Warner LE, Lupski JR, Martin J-J, Van Broeckhoven C (1999) Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. Neurology 52:1827-1832
-
(1999)
Neurology
, vol.52
, pp. 1827-1832
-
-
Timmerman, V.1
De Jonghe, P.2
Ceuterick, C.3
De Vriendt, E.4
Löfgren, A.5
Nelis, E.6
Warner, L.E.7
Lupski, J.R.8
Martin, J.-J.9
Van Broeckhoven, C.10
-
19
-
-
0033987736
-
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
-
Dunnen JT den, Antonarakis SE (2000) Mutation nomenclature extensions and suggestions to describe complex mutations: a discussion. Hum Mutat 15:7-12
-
(2000)
Hum Mutat
, vol.15
, pp. 7-12
-
-
Den Dunnen, J.T.1
Antonarakis, S.E.2
-
20
-
-
0023853921
-
The CpG dinucleotide and human genetic disease
-
Cooper DN, Youssoufian H (1988) The CpG dinucleotide and human genetic disease. Hum Genet 78:151-155
-
(1988)
Hum Genet
, vol.78
, pp. 151-155
-
-
Cooper, D.N.1
Youssoufian, H.2
-
21
-
-
0018185292
-
Molecular basis of base substitution hotspots in Escherichia coli
-
Coulondre C, Miller JH, Farabaugh PJ, Gilbert W (1978) Molecular basis of base substitution hotspots in Escherichia coli. Nature 274:775-780
-
(1978)
Nature
, vol.274
, pp. 775-780
-
-
Coulondre, C.1
Miller, J.H.2
Farabaugh, P.J.3
Gilbert, W.4
-
22
-
-
0030765350
-
The biology and pathobiology of Schwann cells
-
Scherer SS (1997) The biology and pathobiology of Schwann cells. Curr Opin Neurol 10:386-397
-
(1997)
Curr Opin Neurol
, vol.10
, pp. 386-397
-
-
Scherer, S.S.1
-
23
-
-
0027484361
-
Perinatal lethality and defects in hindbrain development in mice homozygous for a targeted mutation of the zinc finger gene Krox20
-
Swiatek PJ, Gridley T (1993) Perinatal lethality and defects in hindbrain development in mice homozygous for a targeted mutation of the zinc finger gene Krox20. Genes Dev 7:2071-2084
-
(1993)
Genes Dev
, vol.7
, pp. 2071-2084
-
-
Swiatek, P.J.1
Gridley, T.2
-
24
-
-
0027135790
-
Disruption of Krox-20 results in alteration of rhombomeres 3 and 5 in the developing hindbrain
-
Schneider-Maunoury S, Topilko P, Seitanidou T, Levi G, Cohen-Tannoudji M, Pournin S, Babinet C, Charnay P (1993) Disruption of Krox-20 results in alteration of rhombomeres 3 and 5 in the developing hindbrain. Cell 75:1199-1214
-
(1993)
Cell
, vol.75
, pp. 1199-1214
-
-
Schneider-Maunoury, S.1
Topilko, P.2
Seitanidou, T.3
Levi, G.4
Cohen-Tannoudji, M.5
Pournin, S.6
Babinet, C.7
Charnay, P.8
-
25
-
-
0026089185
-
Base sequence discrimination by zinc-finger DNA-binding domains
-
Nardelli J, Gibson TJ, Vesque C, Charnay P (1991) Base sequence discrimination by zinc-finger DNA-binding domains. Nature 349:175-178
-
(1991)
Nature
, vol.349
, pp. 175-178
-
-
Nardelli, J.1
Gibson, T.J.2
Vesque, C.3
Charnay, P.4
-
26
-
-
0025773296
-
Zinc finger-DNA recognition: Crystal structure of a Zif268-DNA complex at 2.1 Å
-
Pavletich NP, Pabo CO (1991) Zinc finger-DNA recognition: crystal structure of a Zif268-DNA complex at 2.1 Å. Science 252:809-817
-
(1991)
Science
, vol.252
, pp. 809-817
-
-
Pavletich, N.P.1
Pabo, C.O.2
-
27
-
-
0032797721
-
Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies
-
Warner LE, Svaren J, Milbrandt J, Lupski JR (1999) Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. Hum Mol Genet 8:1245-1251
-
(1999)
Hum Mol Genet
, vol.8
, pp. 1245-1251
-
-
Warner, L.E.1
Svaren, J.2
Milbrandt, J.3
Lupski, J.R.4
-
28
-
-
0033208622
-
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease
-
Bellone E, Di Maria E, Soriani S, Varese A, Doria LL, Ajmar F, Mandich P (1999) A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. Hum Mutat 14:353-354
-
(1999)
Hum Mutat
, vol.14
, pp. 353-354
-
-
Bellone, E.1
Di Maria, E.2
Soriani, S.3
Varese, A.4
Doria, L.L.5
Ajmar, F.6
Mandich, P.7
-
29
-
-
0034050426
-
Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation
-
Pareyson D, Taroni F, Botti S, Morbin M, Baratta S, Lauria G, Ciano C, Sghirlanzoni A (2000) Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation. Neurology 54:1696-1698
-
(2000)
Neurology
, vol.54
, pp. 1696-1698
-
-
Pareyson, D.1
Taroni, F.2
Botti, S.3
Morbin, M.4
Baratta, S.5
Lauria, G.6
Ciano, C.7
Sghirlanzoni, A.8
-
30
-
-
0001683096
-
A R381H mutation in the EGR2 gene associated with a severe peripheral neuropathy with hypotonia
-
Latour P, Gatignol A, Boutrand L, Nivelon-Chevallier A, Giraud M, Boucherat M, Chazot G, Vandenberghe A (1999) A R381H mutation in the EGR2 gene associated with a severe peripheral neuropathy with hypotonia. J Peripher Nerv Syst 4:293-294
-
(1999)
J Peripher Nerv Syst
, vol.4
, pp. 293-294
-
-
Latour, P.1
Gatignol, A.2
Boutrand, L.3
Nivelon-Chevallier, A.4
Giraud, M.5
Boucherat, M.6
Chazot, G.7
Vandenberghe, A.8
-
31
-
-
0001204953
-
Mutations in the Schwann cell transcription factor EGR2/Krox20 in patients with severe hereditary demyelinating neuropathies
-
Taroni F, Pareyson D, Botti S, Sghirlanzoni A, Nemni R, Riva D (1999) Mutations in the Schwann cell transcription factor EGR2/Krox20 in patients with severe hereditary demyelinating neuropathies. Neurology 52 [Suppl 2]:A258-A259
-
(1999)
Neurology
, vol.52
, Issue.2 SUPPL.
-
-
Taroni, F.1
Pareyson, D.2
Botti, S.3
Sghirlanzoni, A.4
Nemni, R.5
Riva, D.6
|