-
1
-
-
0002896804
-
Sur une form particulière d'atrophie musculaire progressive, souvant familiale, debutant par les pieds et les jambes, et atteignant plus tard les mains
-
Sur une form particulière d'atrophie musculaire progressive, souvant familiale, debutant par les pieds et les jambes, et atteignant plus tard les mains. JM Charcot P Marie, Rev Méd Paris 1886 6 97 138
-
(1886)
Rev Méd Paris
, vol.6
, pp. 97-138
-
-
Charcot, J.M.1
Marie, P.2
-
3
-
-
0016266593
-
Genetic and clinical aspects of Charcot-Marie-Tooth's disease
-
4430158
-
Genetic and clinical aspects of Charcot-Marie-Tooth's disease. H Skre, Clin Genet 1974 6 98 118 4430158
-
(1974)
Clin Genet
, vol.6
, pp. 98-118
-
-
Skre, H.1
-
4
-
-
0041653190
-
Hereditary motor and sensory neuropathies; A biological perspective
-
10.1016/S1474-4422(02)00042-X. 12849515
-
Hereditary motor and sensory neuropathies; a biological perspective. ME Shy JY Garbern J Kamholz, Lancet Neurol 2002 1 110 118 10.1016/S1474-4422(02) 00042-X 12849515
-
(2002)
Lancet Neurol
, vol.1
, pp. 110-118
-
-
Shy, M.E.1
Garbern, J.Y.2
Kamholz, J.3
-
5
-
-
25444514731
-
Ganglioside-induced differentiation-associated protein-1 is a regulator of the mitochondrial network:new implications for Charcot-Marie-Tooth disease
-
10.1083/jcb.200507087. 16172208
-
Ganglioside-induced differentiation-associated protein-1 is a regulator of the mitochondrial network:new implications for Charcot-Marie-Tooth disease. A Niemann M Ruegg V La Padula A Schenone U Suter, J Cell Biol 2005 170 1067 1078 10.1083/jcb.200507087 16172208
-
(2005)
J Cell Biol
, vol.170
, pp. 1067-1078
-
-
Niemann, A.1
Ruegg, M.2
La Padula, V.3
Schenone, A.4
Suter, U.5
-
7
-
-
0025253083
-
Protein zero of peripheral nerve myelin:biosynthesis, membrane insertion, and evidence for homotypic interaction
-
10.1016/0896-6273(90)90057-M. 1690568
-
Protein zero of peripheral nerve myelin:biosynthesis, membrane insertion, and evidence for homotypic interaction. D D'Urso PJ Brophy SM Staugaitis CS Gillespie AB Frey JG Stempak DR Colman, Neuron 1990 4 449 460 10.1016/0896-6273(90)90057-M 1690568
-
(1990)
Neuron
, vol.4
, pp. 449-460
-
-
D'Urso, D.1
Brophy, P.J.2
Staugaitis, S.M.3
Gillespie, C.S.4
Frey, A.B.5
Stempak, J.G.6
Colman, D.R.7
-
8
-
-
0029666456
-
Phosphorylation of myelin protein:recent advances
-
10.1007/BF02527718. 8734447
-
Phosphorylation of myelin protein:recent advances. J Eichberg S Iyer, Neurochem Res 1996 21 527 535 10.1007/BF02527718 8734447
-
(1996)
Neurochem Res
, vol.21
, pp. 527-535
-
-
Eichberg, J.1
Iyer, S.2
-
9
-
-
0024074053
-
Unwrapping the genes of myelin
-
10.1016/0896-6273(88)90103-1. 2483101
-
Unwrapping the genes of myelin. G Lemke, Neuron 1988 1 535 543 10.1016/0896-6273(88)90103-1 2483101
-
(1988)
Neuron
, vol.1
, pp. 535-543
-
-
Lemke, G.1
-
10
-
-
0021849731
-
Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin
-
10.1016/0092-8674(85)90198-9. 2578885
-
Isolation and sequence of a cDNA encoding the major structural protein of peripheral myelin. G Lemke R Axel, Cell 1985 40 501 508 10.1016/0092-8674(85) 90198-9 2578885
-
(1985)
Cell
, vol.40
, pp. 501-508
-
-
Lemke, G.1
Axel, R.2
-
11
-
-
0025194356
-
Role of myelin P0 protein as a homophilic adhesion molecule
-
10.1038/344871a0. 1691824
-
Role of myelin P0 protein as a homophilic adhesion molecule. MT Filbin FS Walsh BD Trapp JA Pizzey GI Tennekoon, Nature 1990 344 871 872 10.1038/344871a0 1691824
-
(1990)
Nature
, vol.344
, pp. 871-872
-
-
Filbin, M.T.1
Walsh, F.S.2
Trapp, B.D.3
Pizzey, J.A.4
Tennekoon, G.I.5
-
12
-
-
0030246987
-
Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin
-
10.1016/S0896-6273(00)80176-2. 8816707
-
Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin. L Shapiro JP Doyle P Hensley DR Colman WA Hendrickson, Neuron 1996 17 435 449 10.1016/S0896-6273(00)80176-2 8816707
-
(1996)
Neuron
, vol.17
, pp. 435-449
-
-
Shapiro, L.1
Doyle, J.P.2
Hensley, P.3
Colman, D.R.4
Hendrickson, W.A.5
-
13
-
-
0034660338
-
Absence of P0 leads to the dysregulation of myelin gene expression and myelin morphogenesis
-
10.1002/1097-4547(20000615)60:6<714::AID-JNR3>3.0.CO;2-1. 10861783
-
Absence of P0 leads to the dysregulation of myelin gene expression and myelin morphogenesis. W Xu D Manichella H Jiang JM Vallat J Lilien P Baron G Scarlato J Kamholz ME Shy, J Neurosci Res 2000 60 714 724 10.1002/1097- 4547(20000615)60:6<714::AID-JNR3>3.0.CO;2-1 10861783
-
(2000)
J Neurosci Res
, vol.60
, pp. 714-724
-
-
Xu, W.1
Manichella, D.2
Jiang, H.3
Vallat, J.M.4
Lilien, J.5
Baron, P.6
Scarlato, G.7
Kamholz, J.8
Shy, M.E.9
-
15
-
-
16844381836
-
Reliability and validity of the CMT neuropathy score as a measure of disability
-
15824348
-
Reliability and validity of the CMT neuropathy score as a measure of disability. ME Shy J Blake K Krajewski DR Fuerst M Laura AF Hahn J Li RA Lewis M Reilly, Neurology 2005 64 1209 1214 15824348
-
(2005)
Neurology
, vol.64
, pp. 1209-1214
-
-
Shy, M.E.1
Blake, J.2
Krajewski, K.3
Fuerst, D.R.4
Laura, M.5
Hahn, A.F.6
Li, J.7
Lewis, R.A.8
Reilly, M.9
-
16
-
-
0032810513
-
Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy
-
10.1136/jnnp.67.2.174. 10406984
-
Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. FL Mastaglia KJ Nowak R Stell BA Phillips JE Edmondston SM Dorosz SD Wilton J Hallmayer BA Kakulas NG Laing, J Neurol Neurosurg Psychiatry 1999 67 174 179 10.1136/jnnp.67.2.174 10406984
-
(1999)
J Neurol Neurosurg Psychiatry
, vol.67
, pp. 174-179
-
-
Mastaglia, F.L.1
Nowak, K.J.2
Stell, R.3
Phillips, B.A.4
Edmondston, J.E.5
Dorosz, S.M.6
Wilton, S.D.7
Hallmayer, J.8
Kakulas, B.A.9
Laing, N.G.10
-
17
-
-
0037224513
-
Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32):a clinicopathological study of 205 Japanese patients
-
10.1093/brain/awg012. 12477701
-
Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32):a clinicopathological study of 205 Japanese patients. N Hattori M Yamamoto T Yoshihara H Koike M Nakagawa H Yoshikawa A Ohnishi K Hayasaka O Onodera M Baba H Yasuda T Saito K Nakashima J Kira R Kaji N Oka G Sobue Study Group for Hereditary Neuropathy in Japan, Brain 2003 126 134 151 10.1093/brain/awg012 12477701
-
(2003)
Brain
, vol.126
, pp. 134-151
-
-
Hattori, N.1
Yamamoto, M.2
Yoshihara, T.3
Koike, H.4
Nakagawa, M.5
Yoshikawa, H.6
Ohnishi, A.7
Hayasaka, K.8
Onodera, O.9
Baba, M.10
Yasuda, H.11
Saito, T.12
Nakashima, K.13
Kira, J.14
Kaji, R.15
Oka, N.16
-
18
-
-
0036157054
-
Charcot-Marie-Tooth disease and related neuropathies:mutation distribution and genotype-phenotype correlation
-
10.1002/ana.10089. 11835375
-
Charcot-Marie-Tooth disease and related neuropathies:mutation distribution and genotype-phenotype correlation. CF Boerkoel H Takashima CA Garcia RK Olney J Johnson K Berry P Russo S Kennedy AS Teebi M Scavina LL Williams P Mancias IJ Butler K Krajewski M Shy JR Lupski, Ann Neurol 2002 51 190 201 10.1002/ana.10089 11835375
-
(2002)
Ann Neurol
, vol.51
, pp. 190-201
-
-
Boerkoel, C.F.1
Takashima, H.2
Garcia, C.A.3
Olney, R.K.4
Johnson, J.5
Berry, K.6
Russo, P.7
Kennedy, S.8
Teebi, A.S.9
Scavina, M.10
Williams, L.L.11
Mancias, P.12
Butler, I.J.13
Krajewski, K.14
Shy, M.15
Lupski, J.R.16
-
19
-
-
0032949034
-
The Thr124Met mutation in the peripheral myelin protein zero MPZ gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype
-
10.1093/brain/122.2.281. 10071056
-
The Thr124Met mutation in the peripheral myelin protein zero MPZ gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. P De Jonghe V Timmerman C Ceuterick E Nelis E De Vriendt A Löfgren A Vercruyssen C Verellen L Van Maldergem JJ Martin C Van Broeckhoven, Brain 1999 122 281 290 10.1093/brain/122.2.281 10071056
-
(1999)
Brain
, vol.122
, pp. 281-290
-
-
De Jonghe, P.1
Timmerman, V.2
Ceuterick, C.3
Nelis, E.4
De Vriendt, E.5
Löfgren, A.6
Vercruyssen, A.7
Verellen, C.8
Van Maldergem, L.9
Martin, J.J.10
Van Broeckhoven, C.11
-
20
-
-
10744221158
-
Phenotypic clustering in MPZ mutations
-
10.1093/brain/awh048. 14711881
-
Phenotypic clustering in MPZ mutations. ME Shy A Jni K Krajewski M Grandis RA Lewis J Li RR Shy J Balsamo J Lilien JY Garbern J Kamholz, Brain 2004 127 371 384 10.1093/brain/awh048 14711881
-
(2004)
Brain
, vol.127
, pp. 371-384
-
-
Shy, M.E.1
Jni, A.2
Krajewski, K.3
Grandis, M.4
Lewis, R.A.5
Li, J.6
Shy, R.R.7
Balsamo, J.8
Lilien, J.9
Garbern, J.Y.10
Kamholz, J.11
-
21
-
-
0031964340
-
Mutations of the same sequence of the myelin P0 gene causing two different phenotypes
-
9452091
-
Mutations of the same sequence of the myelin P0 gene causing two different phenotypes. F Schiavon A Rampazzo L Merlini C Angelini ML Mostacciuolo, Hum Mutat 1998 Suppl 1 217 219 9452091
-
(1998)
Hum Mutat
, Issue.SUPPL 1
, pp. 19217-219
-
-
Schiavon, F.1
Rampazzo, A.2
Merlini, L.3
Angelini, C.4
Mostacciuolo, M.L.5
-
22
-
-
0033027371
-
Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene
-
10.1136/jnnp.66.6.779. 10329755
-
Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. F Chapon P Latour P Diraison S Schaeffer A Vandenberghe, J Neurol Neurosurg Psychiatry 1999 66 779 782 10.1136/jnnp.66.6.779 10329755
-
(1999)
J Neurol Neurosurg Psychiatry
, vol.66
, pp. 779-782
-
-
Chapon, F.1
Latour, P.2
Diraison, P.3
Schaeffer, S.4
Vandenberghe, A.5
-
23
-
-
45749132610
-
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations
-
10.1093/hmg/ddn083. 18337304
-
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations. M Grandis T Vigo M Passalacqua M Jain S Scazzola V La Padula M Brucal F Benvenuto L Nobbio A Cadoni GL Mancardi J Kamholz ME Shy A Schenone, Hum Mol Genet 2008 1877 1889 10.1093/hmg/ddn083 18337304
-
(2008)
Hum Mol Genet
, pp. 1877-1889
-
-
Grandis, M.1
Vigo, T.2
Passalacqua, M.3
Jain, M.4
Scazzola, S.5
La Padula, V.6
Brucal, M.7
Benvenuto, F.8
Nobbio, L.9
Cadoni, A.10
Mancardi, G.L.11
Kamholz, J.12
Shy, M.E.13
Schenone, A.14
-
24
-
-
33645636345
-
Different intracellular pathomechanisms produce diverse Myelin Protein Zero neuropathies in transgenic mice
-
10.1523/JNEUROSCI.3819-05.2006. 16495463
-
Different intracellular pathomechanisms produce diverse Myelin Protein Zero neuropathies in transgenic mice. L Wrabetz M D'Antonio M Pennuto G Dati E Tinelli P Fratta S Previtali D Imperiale J Zielasek K Toyka RL Avila DA Kirschner A Messing ML Feltri A Quattrini, J Neurosci 2006 26 2358 2368 10.1523/JNEUROSCI.3819-05.2006 16495463
-
(2006)
J Neurosci
, vol.26
, pp. 2358-2368
-
-
Wrabetz, L.1
D'Antonio, M.2
Pennuto, M.3
Dati, G.4
Tinelli, E.5
Fratta, P.6
Previtali, S.7
Imperiale, D.8
Zielasek, J.9
Toyka, K.10
Avila, R.L.11
Kirschner, D.A.12
Messing, A.13
Feltri, M.L.14
Quattrini, A.15
-
25
-
-
38749104284
-
Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1B mice
-
10.1016/j.neuron.2007.12.021. 18255032
-
Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1B mice. M Pennuto E Tinelli M Malaguti U Del Carro M D'Antonio D Ron A Quattrini ML Feltri L Wrabetz, Neuron 2008 57 393 405 10.1016/j.neuron.2007.12.021 18255032
-
(2008)
Neuron
, vol.57
, pp. 393-405
-
-
Pennuto, M.1
Tinelli, E.2
Malaguti, M.3
Del Carro, U.4
D'Antonio, M.5
Ron, D.6
Quattrini, A.7
Feltri, M.L.8
Wrabetz, L.9
-
26
-
-
0027221142
-
Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B
-
10.1038/ng0993-35. 7693130
-
Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B. T Kulkens PA Bolhuis RA Wolterman S Kemp S te Nijenhuis LJ Valentijn GW Hensels FG Jennekens M de Visser JE Hoogendijk F Baas, Nat Genet 1993 5 35 39 10.1038/ng0993-35 7693130
-
(1993)
Nat Genet
, vol.5
, pp. 35-39
-
-
Kulkens, T.1
Bolhuis, P.A.2
Wolterman, R.A.3
Kemp, S.4
Te Nijenhuis, S.5
Valentijn, L.J.6
Hensels, G.W.7
Jennekens, F.G.8
De Visser, M.9
Hoogendijk, J.E.10
Baas, F.11
-
27
-
-
16044370232
-
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4
-
10.1016/S0092-8674(00)81373-2. 8898206
-
Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. RA Ophoff GM Terwindt MN Vergouwe R van Eijk PJ Oefner SM Hoffman JE Lamerdin HW Mohrenweiser DE Bulman M Ferrari J Haan D Lindhout GJ van Ommen MH Hofker MD Ferrari RR Frants, Cell 1996 87 543 552 10.1016/S0092-8674(00)81373-2 8898206
-
(1996)
Cell
, vol.87
, pp. 543-552
-
-
Ophoff, R.A.1
Terwindt, G.M.2
Vergouwe, M.N.3
Van Eijk, R.4
Oefner, P.J.5
Hoffman, S.M.6
Lamerdin, J.E.7
Mohrenweiser, H.W.8
Bulman, D.E.9
Ferrari, M.10
Haan, J.11
Lindhout, D.12
Van Ommen, G.J.13
Hofker, M.H.14
Ferrari, M.D.15
Frants, R.R.16
-
28
-
-
0031012399
-
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
-
10.1038/ng0197-62. 8988170
-
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel. O Zhuchenko J Bailey P Bonnen T Ashizawa DW Stockton C Amos WB Dobyns SH Subramony HY Zoghbi CC Lee, Nat Genet 1997 15 62 69 10.1038/ng0197-62 8988170
-
(1997)
Nat Genet
, vol.15
, pp. 62-69
-
-
Zhuchenko, O.1
Bailey, J.2
Bonnen, P.3
Ashizawa, T.4
Stockton, D.W.5
Amos, C.6
Dobyns, W.B.7
Subramony, S.H.8
Zoghbi, H.Y.9
Lee, C.C.10
-
29
-
-
2942590938
-
A novel MPZ gene mutation in congenital neuropathy with hypomyelination
-
15184631
-
A novel MPZ gene mutation in congenital neuropathy with hypomyelination. A Kochanski H Drac D Kabzĩska B Ryniewicz K Rowĩska-Marcĩska A Nowakowski I Hausmanowa-Petrusewicz, Neurology 2004 62 2122 2123 15184631
-
(2004)
Neurology
, vol.62
, pp. 2122-2123
-
-
Kochanski, A.1
Drac, H.2
Kabzĩska, D.3
Ryniewicz, B.4
Rowĩska- Marcĩska, K.5
Nowakowski, A.6
Hausmanowa-Petrusewicz, I.7
-
30
-
-
0032790177
-
Phenotypic variation of a new P0 mutation in genetically identical twins
-
10.1007/s004150050410. 10463363
-
Phenotypic variation of a new P0 mutation in genetically identical twins. W Marques Jr MG Hanna SR Marques MG Sweeney PK Thomas NW Wood, J Neurol 1999 246 596 599 10.1007/s004150050410 10463363
-
(1999)
J Neurol
, vol.246
, pp. 596-599
-
-
Jr, M.W.1
Hanna, M.G.2
Marques, S.R.3
Sweeney, M.G.4
Thomas, P.K.5
Wood, N.W.6
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