-
1
-
-
0001768884
-
Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons
-
Dyck PJ, Thomas PK, Lambert EH (eds): Philadelphia, WB Saunders
-
Dyck PJ: Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory and autonomic neurons, in Dyck PJ, Thomas PK, Lambert EH (eds): Peripheral Neuropathies. Philadelphia, WB Saunders, 1975, pp 825-867.
-
(1975)
Peripheral Neuropathies
, pp. 825-867
-
-
Dyck, P.J.1
-
2
-
-
0001046663
-
Hereditary motor and sensory neuropathies
-
Dyck PJ, Thomas PK, Griffin JW, Low PW, Poduslo JF (eds): Philadelphia, WB Saunders
-
Dyck PJ, Chance P, Lebo R, Carney JA: Hereditary motor and sensory neuropathies, in Dyck PJ, Thomas PK, Griffin JW, Low PW, Poduslo JF (eds): Peripheral Neuropathies, 3rd ed. Philadelphia, WB Saunders, 1993, pp 1094-1136.
-
(1993)
Peripheral Neuropathies, 3rd Ed.
, pp. 1094-1136
-
-
Dyck, P.J.1
Chance, P.2
Lebo, R.3
Carney, J.A.4
-
3
-
-
0024457455
-
Longitudinal study of neuropathic deficit and nerve conduction abnormalities in hereditary motorand sensory neuropathy type 1
-
Dyck PJ, Karnes JL, Lambert EH: Longitudinal study of neuropathic deficit and nerve conduction abnormalities in hereditary motorand sensory neuropathy type 1. Neurology 1989;39:1302-1308.
-
(1989)
Neurology
, vol.39
, pp. 1302-1308
-
-
Dyck, P.J.1
Karnes, J.L.2
Lambert, E.H.3
-
4
-
-
0001884336
-
Charcot-Marie-Tooth disease: Nerve conduction and clinical studies of a large sibship
-
Dyck PJ, Lambert EH, Mulder DW: Charcot-Marie-Tooth disease: nerve conduction and clinical studies of a large sibship. Neurology 1963;13:1-11.
-
(1963)
Neurology
, vol.13
, pp. 1-11
-
-
Dyck, P.J.1
Lambert, E.H.2
Mulder, D.W.3
-
5
-
-
0020554379
-
Evolution of nerve conduction abnormalities in children with dominant hypertrophic neuropathy of the Charcot-Marie-Tooth type
-
Gutmann L, Fakadej A, Riggs J: Evolution of nerve conduction abnormalities in children with dominant hypertrophic neuropathy of the Charcot-Marie-Tooth type. Muscle Nerve 1983;6:515-519.
-
(1983)
Muscle Nerve
, vol.6
, pp. 515-519
-
-
Gutmann, L.1
Fakadej, A.2
Riggs, J.3
-
6
-
-
0027108731
-
De-novo mutation in hereditary motor and sensory neuropathy type 1
-
Hoogendijk JE, Hensels GW, Gabreels-Festen AAWM, De Jonghe P, Martin JJ, Van Broeckhoven C, Valentijn LJ, Baas F, De Visser M, Bolhuis PA: De-novo mutation in hereditary motor and sensory neuropathy type 1. Lancet 1992;339:1081-1082.
-
(1992)
Lancet
, vol.339
, pp. 1081-1082
-
-
Hoogendijk, J.E.1
Hensels, G.W.2
Gabreels-Festen, A.A.W.M.3
De Jonghe, P.4
Martin, J.J.5
Van Broeckhoven, C.6
Valentijn, L.J.7
Baas, F.8
De Visser, M.9
Bolhuis, P.A.10
-
7
-
-
0027518166
-
Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17
-
Kaku DA, Parry GJ, Malamut R, Lupski JR, Garcia CA: Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17. Neurology 1993;43:1806-1808.
-
(1993)
Neurology
, vol.43
, pp. 1806-1808
-
-
Kaku, D.A.1
Parry, G.J.2
Malamut, R.3
Lupski, J.R.4
Garcia, C.A.5
-
8
-
-
0018390264
-
Homozygous expression of dominant gene for Charcot-Marie-Tooth neuropathy
-
Killian JM, Kloepfer HW: Homozygous expression of dominant gene for Charcot-Marie-Tooth neuropathy. Ann Neurol 1979;5:515-522.
-
(1979)
Ann Neurol
, vol.5
, pp. 515-522
-
-
Killian, J.M.1
Kloepfer, H.W.2
-
9
-
-
0027366552
-
Inherited primary peripheral neuropathies: Molecular genetics and clinical implications of CMT1A and HNPP
-
Lupski JR, Chance PF, Garcia CA: Inherited primary peripheral neuropathies: molecular genetics and clinical implications of CMT1A and HNPP. JAMA 1993;270: 2326-2330.
-
(1993)
JAMA
, vol.270
, pp. 2326-2330
-
-
Lupski, J.R.1
Chance, P.F.2
Garcia, C.A.3
-
10
-
-
0001910626
-
Charcot-Marie-Tooth polyneuropathy syndrome: Clinical, electrophysiologic, and genetic aspects
-
Appel J (ed)
-
Lupski JR, Garcia CA, Parry GJ, Patel PI: Charcot-Marie-Tooth polyneuropathy syndrome: clinical, electrophysiologic, and genetic aspects, in Appel J (ed): Current Neurology, Chicago, Mosby Year Book 1991, pp 1-25.
-
(1991)
Current Neurology, Chicago, Mosby Year Book
, pp. 1-25
-
-
Lupski, J.R.1
Garcia, C.A.2
Parry, G.J.3
Patel, P.I.4
-
11
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
Lupski JR, Montes de Oca-Luna R, Slaugenhaupt S, Pentao L, Guzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Carcia CA, Chakravarti A, Patel PI: DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991;66:219-232.
-
(1991)
Cell
, vol.66
, pp. 219-232
-
-
Lupski, J.R.1
Montes De Oca-Luna, R.2
Slaugenhaupt, S.3
Pentao, L.4
Guzetta, V.5
Trask, B.J.6
Saucedo-Cardenas, O.7
Barker, D.F.8
Killian, J.M.9
Carcia, C.A.10
Chakravarti, A.11
Patel, P.I.12
-
12
-
-
0026849499
-
Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A
-
Lupski JR, Wise CA, Kuwano A, Pentao L, Parke JT, Glaze DG, Ledbetter DH, Greenberg F, Patel PI: Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A. Nature Genet 1992;1:29-33.
-
(1992)
Nature Genet
, vol.1
, pp. 29-33
-
-
Lupski, J.R.1
Wise, C.A.2
Kuwano, A.3
Pentao, L.4
Parke, J.T.5
Glaze, D.G.6
Ledbetter, D.H.7
Greenberg, F.8
Patel, P.I.9
-
13
-
-
0026879838
-
Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A
-
Matsunami N, Smith B, Ballard L, Lensch MW, Robertson M, Albertsen H, Haneman CO, et al.: Peripheral myelin protein-22 gene maps in the duplication in chromosome 17p11.2 associated with Charcot-Marie-Tooth 1A. Nature Genet 1992,1:176-179.
-
(1992)
Nature Genet
, vol.1
, pp. 176-179
-
-
Matsunami, N.1
Smith, B.2
Ballard, L.3
Lensch, M.W.4
Robertson, M.5
Albertsen, H.6
Haneman, C.O.7
-
14
-
-
0028231331
-
Charcot-Marie-Tooth disease: A new paradigm for the mechanism of inherited disease
-
Patel PI, Lupski JR: Charcot-Marie-Tooth disease: a new paradigm for the mechanism of inherited disease. Trends Genet 1994;10:128-133.
-
(1994)
Trends Genet
, vol.10
, pp. 128-133
-
-
Patel, P.I.1
Lupski, J.R.2
-
15
-
-
0026879614
-
The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A
-
Patel PI, Roa BB, Welcher AA, Schoener-Scott R, Trask B, Pentao L, Snipes GJ, Garcia CA, Francke U, Shooter EM, Lupski JR, Suter U: The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A. Nature Genet 1992;1:159-165.
-
(1992)
Nature Genet
, vol.1
, pp. 159-165
-
-
Patel, P.I.1
Roa, B.B.2
Welcher, A.A.3
Schoener-Scott, R.4
Trask, B.5
Pentao, L.6
Snipes, G.J.7
Garcia, C.A.8
Francke, U.9
Shooter, E.M.10
Lupski, J.R.11
Suter, U.12
-
16
-
-
0027017033
-
Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit
-
Pentao L, Wise C, Chinault AC, Patel PI, Lupski JR: Charcot-Marie-Tooth type 1A duplication appears to arise from recombination at repeat sequences flanking the 1.5 Mb monomer unit. Nature Genet 1992;2:292-300.
-
(1992)
Nature Genet
, vol.2
, pp. 292-300
-
-
Pentao, L.1
Wise, C.2
Chinault, A.C.3
Patel, P.I.4
Lupski, J.R.5
-
17
-
-
9044232437
-
EMG longitudinal studies in peroneal muscular atrophy: Different findings in hypomyelination and neuronal degeneration
-
Suratnee G, Roux H (eds): New York, Masson
-
Pinelli P, Cosi V, Poloni M: EMG longitudinal studies in peroneal muscular atrophy: different findings in hypomyelination and neuronal degeneration, in Suratnee G, Roux H (eds): Peroneal Atrophies and Related Disorders New York, Masson, 1979, pp 153-173.
-
(1979)
Peroneal Atrophies and Related Disorders
, pp. 153-173
-
-
Pinelli, P.1
Cosi, V.2
Poloni, M.3
-
18
-
-
0025997898
-
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT1A)
-
Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin JJ, De Visser M, Bolhuis PA, Van Broeckhoven C, and the HMSN Collaborative Research Group: Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT1A). Neuromusc Disord 1991;1:93-97.
-
(1991)
Neuromusc Disord
, vol.1
, pp. 93-97
-
-
Raeymaekers, P.1
Timmerman, V.2
Nelis, E.3
De Jonghe, P.4
Hoogendijk, J.E.5
Baas, F.6
Barker, D.F.7
Martin, J.J.8
De Visser, M.9
Bolhuis, P.A.10
Van Broeckhoven, C.11
-
19
-
-
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: Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nature Genet 1993;5:269-273.
-
(1993)
Nature 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
-
20
-
-
0027489565
-
Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A
-
Roa BB, Garcia CA, Pentao L, Killian JM, Trask BJ, Suter U, Snipes GJ, Ortiz-Lopez R, Shooter EM, Patel PI, Lupski JR: Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Nature Genet 1993; 5:189-194.
-
(1993)
Nature Genet
, vol.5
, pp. 189-194
-
-
Roa, B.B.1
Garcia, C.A.2
Pentao, L.3
Killian, J.M.4
Trask, B.J.5
Suter, U.6
Snipes, G.J.7
Ortiz-Lopez, R.8
Shooter, E.M.9
Patel, P.I.10
Lupski, J.R.11
-
21
-
-
0027314668
-
Charcot-Marie-Tooth disease type 1A: Association with a spontaneous point mutation in the PMP22 gene
-
Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, Welcher AA, Snipes GJ, Shooter EM, Patel PI, Lupski JR: Charcot-Marie-Tooth disease type 1A: association with a spontaneous point mutation in the PMP22 gene. N Engl J Med 1993;329:96-101.
-
(1993)
N Engl J Med
, vol.329
, pp. 96-101
-
-
Roa, B.B.1
Garcia, C.A.2
Suter, U.3
Kulpa, D.A.4
Wise, C.A.5
Mueller, J.6
Welcher, A.A.7
Snipes, G.J.8
Shooter, E.M.9
Patel, P.I.10
Lupski, J.R.11
-
22
-
-
9044220878
-
Charcot-Marie-Tooth disease and related inherited myelin disorders: Molecular genetics and implications for gene therapy
-
Roa BB, Lupski JR: Charcot-Marie-Tooth disease and related inherited myelin disorders: molecular genetics and implications for gene therapy. Institute of Laboratory Animal Resources News 1994;36:63-72.
-
(1994)
Institute of Laboratory Animal Resources News
, vol.36
, pp. 63-72
-
-
Roa, B.B.1
Lupski, J.R.2
-
23
-
-
0024493702
-
Longitudinal conduction studies in hereditary motor and sensory neuropathy type 1
-
Roy EP, et al.: Longitudinal conduction studies in hereditary motor and sensory neuropathy type 1. Muscle Nerve 1989;12:52-55.
-
(1989)
Muscle Nerve
, vol.12
, pp. 52-55
-
-
Roy, E.P.1
-
24
-
-
0026519132
-
Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)
-
Snipes GJ, Suter U, Welcher AA, Shooter EM: Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13). J Cell Biol 1992;117:225-238.
-
(1992)
J Cell Biol
, vol.117
, pp. 225-238
-
-
Snipes, G.J.1
Suter, U.2
Welcher, A.A.3
Shooter, E.M.4
-
25
-
-
0026554289
-
A leucine-to-proline mutation in the putative first transmembrane domain of the 22-KDa peripheral myelin protein in the Trembler-J mouse
-
Suter U, et al.: A leucine-to-proline mutation in the putative first transmembrane domain of the 22-KDa peripheral myelin protein in the Trembler-J mouse. Proc Natl Acad Sci USA 1992;89:4382-4386.
-
(1992)
Proc Natl Acad Sci USA
, vol.89
, pp. 4382-4386
-
-
Suter, U.1
-
26
-
-
0026605507
-
Trembler mouse carries a point mutation in a myelin gene
-
Suter U, Welcher AA, Ozcelik T, Snipes GJ, Kosaras B, Francke U, Billings-Gagliardi S, Sidman RL, Shooter EM: Trembler mouse carries a point mutation in a myelin gene. Nature 1992;356:241-244.
-
(1992)
Nature
, vol.356
, pp. 241-244
-
-
Suter, U.1
Welcher, A.A.2
Ozcelik, T.3
Snipes, G.J.4
Kosaras, B.5
Francke, U.6
Billings-Gagliardi, S.7
Sidman, R.L.8
Shooter, E.M.9
-
27
-
-
0027459799
-
Progress in the molecular understanding of hereditary peripheral neuropathies reveals new insights into the biology of the peripheral nervous system
-
Suter U, Welcher AA, Snipes GJ: Progress in the molecular understanding of hereditary peripheral neuropathies reveals new insights into the biology of the peripheral nervous system. Trends Neurosci 1993;16:50-56.
-
(1993)
Trends Neurosci
, vol.16
, pp. 50-56
-
-
Suter, U.1
Welcher, A.A.2
Snipes, G.J.3
-
28
-
-
0026879615
-
The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease 1A duplication
-
Timmerman V, Nelis E, Van Hul W, Nieuwenhuijson BW, Chen KL, Wang S, Ben Othmane K, et al.: The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease 1A duplication. Nature Genet 1992; 1:171-175.
-
(1992)
Nature Genet
, vol.1
, pp. 171-175
-
-
Timmerman, V.1
Nelis, E.2
Van Hul, W.3
Nieuwenhuijson, B.W.4
Chen, K.L.5
Wang, S.6
Ben Othmane, K.7
-
29
-
-
0027031611
-
Identical point mutation of PMP22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A
-
Valentijn LJ, Baas F, Wolterman RA, Hoogendijk JE, van den Bosch NHA, Zorn I, Gabreels-Festern AAWM, et al.: Identical point mutation of PMP22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A. Nature Genet 1992; 2:288-291.
-
(1992)
Nature Genet
, vol.2
, pp. 288-291
-
-
Valentijn, L.J.1
Baas, F.2
Wolterman, R.A.3
Hoogendijk, J.E.4
Van Den Bosch, N.H.A.5
Zorn, I.6
Gabreels-Festern, A.A.W.M.7
-
30
-
-
0026879648
-
The peripheral myelin gene PMP22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A
-
Valentijn LJ, Bolhus PA, Zorn I, Hoogendijk JE, van de Bosch N, Hensels GW, Stanton VP, et al.: The peripheral myelin gene PMP22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A. Nature Genet 1992;1:166-170.
-
(1992)
Nature Genet
, vol.1
, pp. 166-170
-
-
Valentijn, L.J.1
Bolhus, P.A.2
Zorn, I.3
Hoogendijk, J.E.4
Van De Bosch, N.5
Hensels, G.W.6
Stanton, V.P.7
-
31
-
-
0027374931
-
Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication
-
Wise CA, Garcia CA, Davis SN, Heju Z, Pentao L, Patel PI, Lupski JR: Molecular analyses of unrelated Charcot-Marie-Tooth (CMT) disease patients suggest a high frequency of the CMT1A duplication. Am J Hum Genet 1993;53:853-863.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 853-863
-
-
Wise, C.A.1
Garcia, C.A.2
Davis, S.N.3
Heju, Z.4
Pentao, L.5
Patel, P.I.6
Lupski, J.R.7
-
32
-
-
0028221758
-
Elevated expression messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A
-
Yoshikawa H, Nishimura T, Nakatsuji Y, Fujimura H, Himoro M, Hayasaka K, Sakoda S, Yanagihara T: Elevated expression messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A. Ann Neurology 1994;35: 445-450.
-
(1994)
Ann Neurology
, vol.35
, pp. 445-450
-
-
Yoshikawa, H.1
Nishimura, T.2
Nakatsuji, Y.3
Fujimura, H.4
Himoro, M.5
Hayasaka, K.6
Sakoda, S.7
Yanagihara, T.8
|