-
1
-
-
0016266593
-
Genetic and clinical aspects of Charcot-Marie-Tooth's disease
-
Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin. Genet. 1974, 6:98.
-
(1974)
Clin. Genet.
, vol.6
, pp. 98
-
-
Skre, H.1
-
2
-
-
0002896804
-
Sur une forme particulaire d'atrophie musculaire progressive souvent familial debutant par les pieds et les jamber et atteingnant plus tard les mains
-
Charcot J.M.P. Sur une forme particulaire d'atrophie musculaire progressive souvent familial debutant par les pieds et les jamber et atteingnant plus tard les mains. Rev. Med. 1886, 6:97.
-
(1886)
Rev. Med.
, vol.6
, pp. 97
-
-
Charcot, J.M.P.1
-
4
-
-
0018949405
-
Genetic aspects of hereditary motor and sensory neuropathy (types I and II)
-
Harding A.E., Thomas P.K. Genetic aspects of hereditary motor and sensory neuropathy (types I and II). J. Med. Genet. 1980, 17:329.
-
(1980)
J. Med. Genet.
, vol.17
, pp. 329
-
-
Harding, A.E.1
Thomas, P.K.2
-
5
-
-
0018942439
-
The clinical features of hereditary motor and sensory neuropathy types I and II
-
Harding A.E., Thomas P.K. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980, 103:259.
-
(1980)
Brain
, vol.103
, pp. 259
-
-
Harding, A.E.1
Thomas, P.K.2
-
6
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
Lupski J.R., de Oca-Luna R.M., Slaugenhaupt S., Pentao L., Guzzetta V., Trask B.J., Saucedo-Cardenas O., Barker D.F., Killian J.M., Garcia C.A., Chakravarti A., Patel P.I. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991, 66:219.
-
(1991)
Cell
, vol.66
, pp. 219
-
-
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
-
7
-
-
0027221141
-
Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene
-
Hayasaka K., Himoro M., Sato W., Takada G., Uyemura K., Shimizu N., Bird T.D., Conneally P.M., Chance P.F. Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene. Nat. Genet. 1993, 5:31.
-
(1993)
Nat. Genet.
, vol.5
, pp. 31
-
-
Hayasaka, K.1
Himoro, M.2
Sato, W.3
Takada, G.4
Uyemura, K.5
Shimizu, N.6
Bird, T.D.7
Conneally, P.M.8
Chance, P.F.9
-
8
-
-
33745139797
-
SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations
-
Latour P., Gonnaud P.M., Ollagnon E., Chan V., Perelman S., Stojkovic T., Stoll C., Vial C., Ziegler F., Vandenberghe A., Maire I. SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations. J. Peripheral Nerv. Syst. 2006, 11:148.
-
(2006)
J. Peripheral Nerv. Syst.
, vol.11
, pp. 148
-
-
Latour, P.1
Gonnaud, P.M.2
Ollagnon, E.3
Chan, V.4
Perelman, S.5
Stojkovic, T.6
Stoll, C.7
Vial, C.8
Ziegler, F.9
Vandenberghe, A.10
Maire, I.11
-
9
-
-
79551488413
-
Charcot-Marie-Tooth disease subtypes and genetic testing strategies
-
Saporta A.S., Sottile S.L., Miller L.J., Feely S.M., Siskind C.E., Shy M.E. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann. Neurol. 2011, 69:22.
-
(2011)
Ann. Neurol.
, vol.69
, pp. 22
-
-
Saporta, A.S.1
Sottile, S.L.2
Miller, L.J.3
Feely, S.M.4
Siskind, C.E.5
Shy, M.E.6
-
10
-
-
84861908529
-
Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing
-
Murphy S.M., Laura M., Fawcett K., Pandraud A., Liu Y.T., Davidson G.L., Rossor A.M., Polke J.M., Castleman V., Manji H., Lunn M.P., Bull K., Ramdharry G., Davis M., Blake J.C., Houlden H., Reilly M.M. Charcot-Marie-Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J. Neurol. Neurosurg. Psychiatry 2012, 83:706.
-
(2012)
J. Neurol. Neurosurg. Psychiatry
, vol.83
, pp. 706
-
-
Murphy, S.M.1
Laura, M.2
Fawcett, K.3
Pandraud, A.4
Liu, Y.T.5
Davidson, G.L.6
Rossor, A.M.7
Polke, J.M.8
Castleman, V.9
Manji, H.10
Lunn, M.P.11
Bull, K.12
Ramdharry, G.13
Davis, M.14
Blake, J.C.15
Houlden, H.16
Reilly, M.M.17
-
11
-
-
0030765350
-
The biology and pathobiology of Schwann cells
-
Scherer S.S. The biology and pathobiology of Schwann cells. Curr. Opin. Neurol. 1997, 10:386-397.
-
(1997)
Curr. Opin. Neurol.
, vol.10
, pp. 386-397
-
-
Scherer, S.S.1
-
12
-
-
0029971794
-
Schwann cell development, differentiation and myelination
-
Mirsky R., Jessen K.R. Schwann cell development, differentiation and myelination. Curr. Opin. Neurobiol. 1996, 6:89-96.
-
(1996)
Curr. Opin. Neurobiol.
, vol.6
, pp. 89-96
-
-
Mirsky, R.1
Jessen, K.R.2
-
13
-
-
45749144793
-
Novel signals controlling embryonic Schwann cell development, myelination and dedifferentiation
-
Mirsky R., Woodhoo A., Parkinson D.B., Arthur-Farraj P., Bhaskaran A., Jessen K.R. Novel signals controlling embryonic Schwann cell development, myelination and dedifferentiation. J. Peripheral Nerv. Syst. 2008, 13:122-135.
-
(2008)
J. Peripheral Nerv. Syst.
, vol.13
, pp. 122-135
-
-
Mirsky, R.1
Woodhoo, A.2
Parkinson, D.B.3
Arthur-Farraj, P.4
Bhaskaran, A.5
Jessen, K.R.6
-
14
-
-
25144470229
-
The origin and development of glial cells in peripheral nerves
-
Jessen K.R., Mirsky R. The origin and development of glial cells in peripheral nerves. Nat. Rev. Neurosci. 2005, 6:671-682.
-
(2005)
Nat. Rev. Neurosci.
, vol.6
, pp. 671-682
-
-
Jessen, K.R.1
Mirsky, R.2
-
15
-
-
23944503110
-
Neuregulin-1 type III determines the ensheathment fate of axons
-
Taveggia C., Zanazzi G., Petrylak A., Yano H., Rosenbluth J., Einheber S., Xu X., Esper R.M., Loeb J.A., Shrager P., Chao M.V., Falls D.L., Role L., Salzer J.L. Neuregulin-1 type III determines the ensheathment fate of axons. Neuron 2005, 47:681-694.
-
(2005)
Neuron
, vol.47
, pp. 681-694
-
-
Taveggia, C.1
Zanazzi, G.2
Petrylak, A.3
Yano, H.4
Rosenbluth, J.5
Einheber, S.6
Xu, X.7
Esper, R.M.8
Loeb, J.A.9
Shrager, P.10
Chao, M.V.11
Falls, D.L.12
Role, L.13
Salzer, J.L.14
-
16
-
-
61549136754
-
Neuregulin-1, a key axonal signal that drives Schwann cell growth and differentiation
-
Birchmeier C., Nave K.A. Neuregulin-1, a key axonal signal that drives Schwann cell growth and differentiation. GLIA 2008, 56:1491-1497.
-
(2008)
GLIA
, vol.56
, pp. 1491-1497
-
-
Birchmeier, C.1
Nave, K.A.2
-
17
-
-
2342444048
-
Axonal neuregulin-1 regulates myelin sheath thickness
-
Michailov G.V., Sereda M.W., Brinkmann B.G., Fischer T.M., Haug B., Birchmeier C., Role L., Lai Schwab C.M.H., Nave K.A. Axonal neuregulin-1 regulates myelin sheath thickness. Science 2004, 304:700-703.
-
(2004)
Science
, vol.304
, pp. 700-703
-
-
Michailov, G.V.1
Sereda, M.W.2
Brinkmann, B.G.3
Fischer, T.M.4
Haug, B.5
Birchmeier, C.6
Role, L.7
Lai Schwab, C.M.H.8
Nave, K.A.9
-
18
-
-
0034610999
-
A dual role of erbB2 in myelination and in expansion of the schwann cell precursor pool
-
Garratt A.N., Voiculescu O., Topilko P., Charnay P., Birchmeier C. A dual role of erbB2 in myelination and in expansion of the schwann cell precursor pool. J. Cell Biol. 2000, 148:1035-1046.
-
(2000)
J. Cell Biol.
, vol.148
, pp. 1035-1046
-
-
Garratt, A.N.1
Voiculescu, O.2
Topilko, P.3
Charnay, P.4
Birchmeier, C.5
-
19
-
-
0034981923
-
EGR2 mutations in inherited neuropathies dominant-negatively inhibit myelin gene expression
-
Nagarajan R., Svaren J., Le N., Araki T., Watson M., Milbrandt J. EGR2 mutations in inherited neuropathies dominant-negatively inhibit myelin gene expression. Neuron 2001, 30:355-368.
-
(2001)
Neuron
, vol.30
, pp. 355-368
-
-
Nagarajan, R.1
Svaren, J.2
Le, N.3
Araki, T.4
Watson, M.5
Milbrandt, J.6
-
20
-
-
33748904350
-
Peripheral myelin maintenance is a dynamic process requiring constant Krox20 expression
-
Decker L., Desmarquet-Trin-Dinh C., Taillebourg E., Ghislain J., Vallat J.M., Charnay P. Peripheral myelin maintenance is a dynamic process requiring constant Krox20 expression. J. Neurosci. 2006, 26:9771-9779.
-
(2006)
J. Neurosci.
, vol.26
, pp. 9771-9779
-
-
Decker, L.1
Desmarquet-Trin-Dinh, C.2
Taillebourg, E.3
Ghislain, J.4
Vallat, J.M.5
Charnay, P.6
-
21
-
-
0037097611
-
Myelin phagocytosis by macrophages and nonmacrophages during Wallerian degeneration
-
Hirata K., Kawabuchi M. Myelin phagocytosis by macrophages and nonmacrophages during Wallerian degeneration. Microsc. Res. Tech. 2002, 57:541-547.
-
(2002)
Microsc. Res. Tech.
, vol.57
, pp. 541-547
-
-
Hirata, K.1
Kawabuchi, M.2
-
22
-
-
34547729765
-
Schwann cell precursors: a favourable cell for myelin repair in the Central Nervous System
-
Woodhoo A., Sahni V., Gilson J., Setzu A., Franklin R.J., Blakemore W.F., Mirsky R., Jessen K.R. Schwann cell precursors: a favourable cell for myelin repair in the Central Nervous System. Brain 2007, 130:2175-2185.
-
(2007)
Brain
, vol.130
, pp. 2175-2185
-
-
Woodhoo, A.1
Sahni, V.2
Gilson, J.3
Setzu, A.4
Franklin, R.J.5
Blakemore, W.F.6
Mirsky, R.7
Jessen, K.R.8
-
23
-
-
67649826154
-
Notch controls embryonic Schwann cell differentiation, postnatal myelination and adult plasticity
-
Woodhoo A., Alonso M.B., Droggiti A., Turmaine M., D'Antonio M., Parkinson D.B., Wilton D.K., Al-Shawi R., Simons P., Shen J., Guillemot F., Radtke F., Meijer D., Feltri M.L., Wrabetz L., Mirsky R., Jessen K.R. Notch controls embryonic Schwann cell differentiation, postnatal myelination and adult plasticity. Nat. Neurosci. 2009, 12:839-847.
-
(2009)
Nat. Neurosci.
, vol.12
, pp. 839-847
-
-
Woodhoo, A.1
Alonso, M.B.2
Droggiti, A.3
Turmaine, M.4
D'Antonio, M.5
Parkinson, D.B.6
Wilton, D.K.7
Al-Shawi, R.8
Simons, P.9
Shen, J.10
Guillemot, F.11
Radtke, F.12
Meijer, D.13
Feltri, M.L.14
Wrabetz, L.15
Mirsky, R.16
Jessen, K.R.17
-
24
-
-
0034065232
-
On the molecular architecture of myelinated fibers
-
Arroyo E.J., Scherer S.S. On the molecular architecture of myelinated fibers. Histochem. Cell Biol. 2000, 113:1-18.
-
(2000)
Histochem. Cell Biol.
, vol.113
, pp. 1-18
-
-
Arroyo, E.J.1
Scherer, S.S.2
-
25
-
-
0141987863
-
Polarized domains of myelinated axons
-
Salzer J.L. Polarized domains of myelinated axons. Neuron 2003, 40:297-318.
-
(2003)
Neuron
, vol.40
, pp. 297-318
-
-
Salzer, J.L.1
-
26
-
-
84922324293
-
Hereditary motor and sensory neuropathies: understanding molecular pathogenesis could lead to future treatment strategies
-
Jerath N.U., Shy M.E. Hereditary motor and sensory neuropathies: understanding molecular pathogenesis could lead to future treatment strategies. Biochim. Biophys. Acta 2015, 1852(April (4)):667-678.
-
(2015)
Biochim. Biophys. Acta
, vol.1852
, Issue.APRIL 4
, pp. 667-678
-
-
Jerath, N.U.1
Shy, M.E.2
-
27
-
-
84882866259
-
The hereditary motor and sensory neuropathies: an overview of the clinical, genetic, electrophysiologic and pathlogic features
-
WB Saunders, Philadelphia
-
Shy M., Lupski J.R., Chance P.F., Klein C.J., Dyck P. The hereditary motor and sensory neuropathies: an overview of the clinical, genetic, electrophysiologic and pathlogic features. Peripheral Neuropathy 2005, 2:1623-1658. WB Saunders, Philadelphia.
-
(2005)
Peripheral Neuropathy
, vol.2
, pp. 1623-1658
-
-
Shy, M.1
Lupski, J.R.2
Chance, P.F.3
Klein, C.J.4
Dyck, P.5
-
28
-
-
33745268197
-
Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease
-
Niemann A., Berger P., Suter U. Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease. NeuroMol. Med. 2006, 8:217.
-
(2006)
NeuroMol. Med.
, vol.8
, pp. 217
-
-
Niemann, A.1
Berger, P.2
Suter, U.3
-
29
-
-
84863203827
-
MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B
-
Saporta M.A., Shy B.R., Patzko A., Bai Y., Pennuto M., Ferri C., Tinelli E., Saveri P., Kirschner D., Crowther M., Southwood C., Wu X., Gow A., Feltri M.L., Wrabetz L., Shy M.E. MpzR98C arrests Schwann cell development in a mouse model of early-onset Charcot-Marie-Tooth disease type 1B. Brain 2012, 135:2032.
-
(2012)
Brain
, vol.135
, pp. 2032
-
-
Saporta, M.A.1
Shy, B.R.2
Patzko, A.3
Bai, Y.4
Pennuto, M.5
Ferri, C.6
Tinelli, E.7
Saveri, P.8
Kirschner, D.9
Crowther, M.10
Southwood, C.11
Wu, X.12
Gow, A.13
Feltri, M.L.14
Wrabetz, L.15
Shy, M.E.16
-
30
-
-
0030030169
-
Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin
-
Blair I.P., Nash J., Gordon M.J., Nicholson G.A. Prevalence and origin of de novo duplications in Charcot-Marie-Tooth disease type 1A: first report of a de novo duplication with a maternal origin. Am. J. Hum. Genet. 1996, 58:472.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 472
-
-
Blair, I.P.1
Nash, J.2
Gordon, M.J.3
Nicholson, G.A.4
-
31
-
-
67650045535
-
PMP22 expression in dermal nerve myelin from patients with CMT1A
-
Katona I., Wu X., Feely S.M., Sottile S., Siskind C.E., Miller L.J., Shy M.E., Li J. PMP22 expression in dermal nerve myelin from patients with CMT1A. Brain 2009, 132:1734-1740.
-
(2009)
Brain
, vol.132
, pp. 1734-1740
-
-
Katona, I.1
Wu, X.2
Feely, S.M.3
Sottile, S.4
Siskind, C.E.5
Miller, L.J.6
Shy, M.E.7
Li, J.8
-
32
-
-
0034015403
-
Myelin synthesis in the peripheral nervous system
-
Garbay B., Heape A.M., Sargueil F., Cassagne C. Myelin synthesis in the peripheral nervous system. Prog. Neurobiol. 2000, 61:267-304.
-
(2000)
Prog. Neurobiol.
, vol.61
, pp. 267-304
-
-
Garbay, B.1
Heape, A.M.2
Sargueil, F.3
Cassagne, C.4
-
33
-
-
84864129115
-
Identification of drug modulators targeting gene-dosage disease CMT1A
-
Jang S.W., Lopez-Anido C., MacArthur R., Svaren J., Inglese J. Identification of drug modulators targeting gene-dosage disease CMT1A. ACS Chem. Biol. [Electron. Resour.] 2012, 7:1205-1213.
-
(2012)
ACS Chem. Biol. [Electron. Resour.]
, vol.7
, pp. 1205-1213
-
-
Jang, S.W.1
Lopez-Anido, C.2
MacArthur, R.3
Svaren, J.4
Inglese, J.5
-
34
-
-
79952762905
-
Regulation of the PMP22 gene through an intronic enhancer
-
Jones E.A., Lopez-Anido C., Srinivasan R., Krueger C., Chang L.W., Nagarajan R., Svaren J. Regulation of the PMP22 gene through an intronic enhancer. J. Neurosci. 2011, 31:4242-4250.
-
(2011)
J. Neurosci.
, vol.31
, pp. 4242-4250
-
-
Jones, E.A.1
Lopez-Anido, C.2
Srinivasan, R.3
Krueger, C.4
Chang, L.W.5
Nagarajan, R.6
Svaren, J.7
-
35
-
-
78649421033
-
Pathological adaptive responses of Schwann cells to endoplasmic reticulum stress in bortezomib-induced peripheral neuropathy
-
Shin Y.K., Jang S.Y., Lee H.K., Jung J., Suh D.J., Seo S.Y., Park H.T. Pathological adaptive responses of Schwann cells to endoplasmic reticulum stress in bortezomib-induced peripheral neuropathy. Glia 2011, 58:1961-1976.
-
(2011)
Glia
, vol.58
, pp. 1961-1976
-
-
Shin, Y.K.1
Jang, S.Y.2
Lee, H.K.3
Jung, J.4
Suh, D.J.5
Seo, S.Y.6
Park, H.T.7
-
36
-
-
0029863589
-
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study
-
Nelis E., Van Broeckhoven C., De Jonghe P., Lofgren A., Vandenberghe A., Latour P., Le Guern E., Brice A., Mostacciuolo M.L., Schiavon F., Palau F., Bort S., Upadhyaya M., Rocchi M., Archidiacono N., Mandich P., Bellone E., Silander K., Savontaus M.L., Navon R., Goldberg-Stern H., Estivill X., Volpini V., Friedl W., Gal A. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur. J. Hum. Genet. 1996, 4:25.
-
(1996)
Eur. J. Hum. Genet.
, vol.4
, pp. 25
-
-
Nelis, E.1
Van Broeckhoven, C.2
De Jonghe, P.3
Lofgren, A.4
Vandenberghe, A.5
Latour, P.6
Le Guern, E.7
Brice, A.8
Mostacciuolo, M.L.9
Schiavon, F.10
Palau, F.11
Bort, S.12
Upadhyaya, M.13
Rocchi, M.14
Archidiacono, N.15
Mandich, P.16
Bellone, E.17
Silander, K.18
Savontaus, M.L.19
Navon, R.20
Goldberg-Stern, H.21
Estivill, X.22
Volpini, V.23
Friedl, W.24
Gal, A.25
more..
-
37
-
-
0025253083
-
Protein zero of peripheral nerve myelin: biosynthesis, membrane insertion, and evidence for homotypic interaction
-
D'Urso D., Brophy P.J., Staugaitis S.M., Gillespie C.S., Frey A.B., Stempak J.G., Colman D.R. Protein zero of peripheral nerve myelin: biosynthesis, membrane insertion, and evidence for homotypic interaction. Neuron 1990, 4(3):4449-4460.
-
(1990)
Neuron
, vol.4
, Issue.3
, pp. 4449-4460
-
-
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
-
38
-
-
0025194356
-
Role of myelin P0 protein as a homophilic adhesion molecule
-
Filbin M.T., Walsh F.S., Trapp B.D., Pizzey J.A., Tennekoon G.I. Role of myelin P0 protein as a homophilic adhesion molecule. Nature 1990, 344:871-872.
-
(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
-
39
-
-
0030246987
-
Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin
-
Shapiro L., Doyle J.P., Hensley P., Colman D.R., Hendrickson W.A. Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin. Neuron 1996, 17:435-449.
-
(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
-
40
-
-
10744221158
-
Phenotypic clustering in MPZ mutations
-
Shy M.E., Jani A., Krajewski K., Grandis M., Lewis R.A., Li J., Shy R.R., Balsamo J., Lilien J., Garbern J.Y., Kamholz J. Phenotypic clustering in MPZ mutations. Brain 2004, 127:371.
-
(2004)
Brain
, vol.127
, pp. 371
-
-
Shy, M.E.1
Jani, 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
-
41
-
-
27244435246
-
Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants
-
Khajavi M., Inoue K., Wiszniewski W., Ohyama T., Snipes G.J., Lupski J.R. Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants. Am. J. Hum. Genet. 2005, 77:841-850.
-
(2005)
Am. J. Hum. Genet.
, vol.77
, pp. 841-850
-
-
Khajavi, M.1
Inoue, K.2
Wiszniewski, W.3
Ohyama, T.4
Snipes, G.J.5
Lupski, J.R.6
-
42
-
-
45749132610
-
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations
-
Grandis M., Vigo T., Passalacqua M., Jain M., Scazzola S., La Padula V., Brucal M., Benvenuto F., Nobbio L., Cadoni A., Mancardi G.L., Kamholz J., Shy M.E., Schenone A. Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations. Hum. Mol. Genet. 2008, 17:1877.
-
(2008)
Hum. Mol. Genet.
, vol.17
, pp. 1877
-
-
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
-
43
-
-
33645636345
-
Different intracellular pathomechanisms produce diverse Myelin Protein Zero neuropathies in transgenic mice
-
Wrabetz L., D'Antonio M., Pennuto M., Dati G., Tinelli E., Fratta P., Previtali S., Imperiale D., Zielasek J., Toyka K., Avila R.L., Kirschner D.A., Messing A., Feltri M.L., Quattrini A. Different intracellular pathomechanisms produce diverse Myelin Protein Zero neuropathies in transgenic mice. J. Neurosci. 2006, 26:2358-2368.
-
(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
-
45
-
-
79952264011
-
Integrating the mechanisms of apoptosis induced by endoplasmic reticulum stress
-
Tabas I., Ron D. Integrating the mechanisms of apoptosis induced by endoplasmic reticulum stress. Nat. Cell Biol. 2011, 13:184-190.
-
(2011)
Nat. Cell Biol.
, vol.13
, pp. 184-190
-
-
Tabas, I.1
Ron, D.2
-
46
-
-
34548219064
-
Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy
-
Khajavi M., Shiga K., Wiszniewski W., He F., Shaw C.A., Yan J., Wensel T.G., Snipes G.J., Lupski J.R. Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. Am. J. Hum. Genet. 2007, 81:438.
-
(2007)
Am. J. Hum. Genet.
, vol.81
, pp. 438
-
-
Khajavi, M.1
Shiga, K.2
Wiszniewski, W.3
He, F.4
Shaw, C.A.5
Yan, J.6
Wensel, T.G.7
Snipes, G.J.8
Lupski, J.R.9
-
47
-
-
38749104284
-
Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1B mice
-
Pennuto M., Tinelli E., Malaguti M., Del Carro U., D'Antonio M., Ron D., Quattrini A., Feltri M.L., Wrabetz L. Ablation of the UPR-mediator CHOP restores motor function and reduces demyelination in Charcot-Marie-Tooth 1B mice. Neuron 2008, 57:393.
-
(2008)
Neuron
, vol.57
, pp. 393
-
-
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
-
48
-
-
11144355340
-
Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects
-
Egan M.E., Pearson M., Weiner S.A., Rajendran V., Rubin D., Glockner-Pagel J., Canny S., Du K., Lukacs G.L., Caplan M.J. Curcumin, a major constituent of turmeric, corrects cystic fibrosis defects. Science 2004, 304:600-602.
-
(2004)
Science
, vol.304
, pp. 600-602
-
-
Egan, M.E.1
Pearson, M.2
Weiner, S.A.3
Rajendran, V.4
Rubin, D.5
Glockner-Pagel, J.6
Canny, S.7
Du, K.8
Lukacs, G.L.9
Caplan, M.J.10
-
49
-
-
33845515932
-
Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes
-
Bai Y., Ianokova E., Pu Q., Ghandour K., Levinson R., Martin J.J., Ceuterick-de Groote C., Mazanec R., Seeman P., Shy M.E., Li J. Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes. Arch. Neurol. 2006, 63:1787-1794.
-
(2006)
Arch. Neurol.
, vol.63
, pp. 1787-1794
-
-
Bai, Y.1
Ianokova, E.2
Pu, Q.3
Ghandour, K.4
Levinson, R.5
Martin, J.J.6
Ceuterick-de Groote, C.7
Mazanec, R.8
Seeman, P.9
Shy, M.E.10
Li, J.11
-
50
-
-
84871760898
-
Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice
-
Patzko A., Bai Y., Saporta M.A., Katona I., Wu X., Vizzuso D., Feltri M.L., Wang S., Dillon L.M., Kamholz J., Kirschner D., Sarkar F.H., Wrabetz L., Shy M.E. Curcumin derivatives promote Schwann cell differentiation and improve neuropathy in R98C CMT1B mice. Brain 2012, 135:3551.
-
(2012)
Brain
, vol.135
, pp. 3551
-
-
Patzko, A.1
Bai, Y.2
Saporta, M.A.3
Katona, I.4
Wu, X.5
Vizzuso, D.6
Feltri, M.L.7
Wang, S.8
Dillon, L.M.9
Kamholz, J.10
Kirschner, D.11
Sarkar, F.H.12
Wrabetz, L.13
Shy, M.E.14
-
51
-
-
84878632676
-
Resetting translational homeostasis restores myelination in Charcot-Marie-Tooth disease type 1B mice
-
D'Antonio M., Musner N., Scapin C., Ungaro D., Del Carro U., Ron D., Feltri M.L., Wrabetz L. Resetting translational homeostasis restores myelination in Charcot-Marie-Tooth disease type 1B mice. J. Exp. Med. 2013, 210:821-838.
-
(2013)
J. Exp. Med.
, vol.210
, pp. 821-838
-
-
D'Antonio, M.1
Musner, N.2
Scapin, C.3
Ungaro, D.4
Del Carro, U.5
Ron, D.6
Feltri, M.L.7
Wrabetz, L.8
-
52
-
-
0035947778
-
Feedback inhibition of the unfolded protein response by GADD34-mediated dephosphorylation of eIF2alpha
-
Novoa I., Zeng H., Harding H.P., Ron D. Feedback inhibition of the unfolded protein response by GADD34-mediated dephosphorylation of eIF2alpha. J. Cell Biol. 2001, 153:1011-1022.
-
(2001)
J. Cell Biol.
, vol.153
, pp. 1011-1022
-
-
Novoa, I.1
Zeng, H.2
Harding, H.P.3
Ron, D.4
-
53
-
-
13644256191
-
A selective inhibitor of eIF2alpha dephosphorylation protects cells from ER stress
-
Boyce M., Bryant K.F., Jousse C., Long K., Harding H.P., Scheuner D., Kaufman R.J., Ma D., Coen D.M., Ron D., Yuan J. A selective inhibitor of eIF2alpha dephosphorylation protects cells from ER stress. Science 2005, 307:935-939.
-
(2005)
Science
, vol.307
, pp. 935-939
-
-
Boyce, M.1
Bryant, K.F.2
Jousse, C.3
Long, K.4
Harding, H.P.5
Scheuner, D.6
Kaufman, R.J.7
Ma, D.8
Coen, D.M.9
Ron, D.10
Yuan, J.11
-
54
-
-
20244367606
-
SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation
-
Saifi G.M., Szigeti K., Wiszniewski W., Shy M.E., Krajewski K., Hausmanowa-Petrusewicz I., Kochanski A., Reeser S., Mancias P., Butler I., Lupski J.R. SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation. Hum. Mutat. 2005, 25:372.
-
(2005)
Hum. Mutat.
, vol.25
, pp. 372
-
-
Saifi, G.M.1
Szigeti, K.2
Wiszniewski, W.3
Shy, M.E.4
Krajewski, K.5
Hausmanowa-Petrusewicz, I.6
Kochanski, A.7
Reeser, S.8
Mancias, P.9
Butler, I.10
Lupski, J.R.11
-
55
-
-
84940000779
-
A novel LITAF/SIMPLE variant within a family with minimal demyelinating form of Charcot-Marie-Tooth disease
-
(19 Supplement)
-
Luigetti M., Fabrizi G.M., Taioli F., Del Grande A., Conte A., Bisogni G., Romano A., Lo Monaco M., Sabatelli M. A novel LITAF/SIMPLE variant within a family with minimal demyelinating form of Charcot-Marie-Tooth disease. J. Peripheral Nerv. Syst. 2014, s18-s19. (19 Supplement).
-
(2014)
J. Peripheral Nerv. Syst.
, pp. s18-s19
-
-
Luigetti, M.1
Fabrizi, G.M.2
Taioli, F.3
Del Grande, A.4
Conte, A.5
Bisogni, G.6
Romano, A.7
Lo Monaco, M.8
Sabatelli, M.9
-
56
-
-
0037435540
-
Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C
-
Street V.A., Bennett C.L., Goldy J.D., Shirk A.J., Kleopa K.A., Tempel B.L., Lipe H.P., Scherer S.S., Bird T.D., Chance P.F. Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C. Neurology 2003, 60:22.
-
(2003)
Neurology
, vol.60
, pp. 22
-
-
Street, V.A.1
Bennett, C.L.2
Goldy, J.D.3
Shirk, A.J.4
Kleopa, K.A.5
Tempel, B.L.6
Lipe, H.P.7
Scherer, S.S.8
Bird, T.D.9
Chance, P.F.10
-
57
-
-
80054037232
-
Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways
-
Lee S.M., Olzmann J.A., Chin L.S., Li L. Mutations associated with Charcot-Marie-Tooth disease cause SIMPLE protein mislocalization and degradation by the proteasome and aggresome-autophagy pathways. J. Cell Sci. 2011, 124:3319-3331.
-
(2011)
J. Cell Sci.
, vol.124
, pp. 3319-3331
-
-
Lee, S.M.1
Olzmann, J.A.2
Chin, L.S.3
Li, L.4
-
58
-
-
11144356764
-
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve
-
Bennett C.L., Shirk A.J., Huynh H.M., Street V.A., Nelis E., Van Maldergem L., De Jonghe P., Jordanova A., Guergueltcheva V., Tournev I., Van Den Bergh P., Seeman P., Mazanec R., Prochazka T., Kremensky I., Haberlova J., Weiss M.D., Timmerman V., Bird T.D., Chance P.F. SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve. Ann. Neurol. 2004, 55:713.
-
(2004)
Ann. Neurol.
, vol.55
, pp. 713
-
-
Bennett, C.L.1
Shirk, A.J.2
Huynh, H.M.3
Street, V.A.4
Nelis, E.5
Van Maldergem, L.6
De Jonghe, P.7
Jordanova, A.8
Guergueltcheva, V.9
Tournev, I.10
Van Den Bergh, P.11
Seeman, P.12
Mazanec, R.13
Prochazka, T.14
Kremensky, I.15
Haberlova, J.16
Weiss, M.D.17
Timmerman, V.18
Bird, T.D.19
Chance, P.F.20
more..
-
59
-
-
0031943222
-
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
-
Warner L.E., Mancias P., Butler I.J., McDonald C.M., Keppen L., Koob K.G., Lupski J.R. Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat. Genet. 1998, 18:382.
-
(1998)
Nat. Genet.
, vol.18
, pp. 382
-
-
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
-
60
-
-
0036887066
-
Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies
-
Vandenberghe N., Upadhyaya M., Gatignol A., Boutrand L., Boucherat M., Chazot G., Vandenberghe A., Latour P. Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies. J. Med. Genet. 2002, 39:e81.
-
(2002)
J. Med. Genet.
, vol.39
-
-
Vandenberghe, N.1
Upadhyaya, M.2
Gatignol, A.3
Boutrand, L.4
Boucherat, M.5
Chazot, G.6
Vandenberghe, A.7
Latour, P.8
-
61
-
-
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. Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation. Neurology 2000, 54:1696.
-
(2000)
Neurology
, vol.54
, pp. 1696
-
-
Pareyson, D.1
Taroni, F.2
Botti, S.3
Morbin, M.4
Baratta, S.5
Lauria, G.6
Ciano, C.7
Sghirlanzoni, A.8
-
62
-
-
0027984497
-
Krox-20 controls myelination in the peripheral nervous system
-
Topilko P., Schneider-Maunoury S., Levi G., Baron-Van Evercooren A., Chennoufi A.B.Y., Seitanidou T., Babinet C., Charnay P. Krox-20 controls myelination in the peripheral nervous system. Nature 1994, 371:796-799.
-
(1994)
Nature
, vol.371
, pp. 796-799
-
-
Topilko, P.1
Schneider-Maunoury, S.2
Levi, G.3
Baron-Van Evercooren, A.4
Chennoufi, A.B.Y.5
Seitanidou, T.6
Babinet, C.7
Charnay, P.8
-
63
-
-
14044266360
-
Analysis of congenital hypomyelinating Egr2Lo/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination
-
Le N., Nagarajan R., Wang J.Y., Araki T., Schmidt R.E., Milbrandt J. Analysis of congenital hypomyelinating Egr2Lo/Lo nerves identifies Sox2 as an inhibitor of Schwann cell differentiation and myelination. Proc. Natl. Acad. Sci. U. S. A. 2005, 102:2596-2601.
-
(2005)
Proc. Natl. Acad. Sci. U. S. A.
, vol.102
, pp. 2596-2601
-
-
Le, N.1
Nagarajan, R.2
Wang, J.Y.3
Araki, T.4
Schmidt, R.E.5
Milbrandt, J.6
-
64
-
-
34247554140
-
Neuropathy-associated Egr2 mutants disrupt cooperative activation of myelin protein zero by Egr2 and Sox10
-
LeBlanc S.E., Ward R.M., Svaren J. Neuropathy-associated Egr2 mutants disrupt cooperative activation of myelin protein zero by Egr2 and Sox10. Mol. Cell. Biol. 2007, 27:3521-3529.
-
(2007)
Mol. Cell. Biol.
, vol.27
, pp. 3521-3529
-
-
LeBlanc, S.E.1
Ward, R.M.2
Svaren, J.3
-
65
-
-
0032797721
-
Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies
-
Warner L.E., Svaren J., Milbrandt J., Lupski J.R. Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. Hum. Mol. Genet. 1999, 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
-
66
-
-
0032531903
-
Novel mutants of NAB corepressors enhance activation by Egr transactivators
-
Svaren J., Sevetson B.R., Golda T., Stanton J.J., Swirnoff A.H., Milbrandt J. Novel mutants of NAB corepressors enhance activation by Egr transactivators. Embo J. 1998, 17:6010-6019.
-
(1998)
Embo J.
, vol.17
, pp. 6010-6019
-
-
Svaren, J.1
Sevetson, B.R.2
Golda, T.3
Stanton, J.J.4
Swirnoff, A.H.5
Milbrandt, J.6
-
67
-
-
78751584739
-
Variable phenotypes are associated with PMP22 missense mutations
-
Russo M., Laura M., Polke J.M., Davis M.B., Blake J., Brandner S., Hughes R.A., Houlden H., Bennett D.L., Lunn M.P., Reilly M.M. Variable phenotypes are associated with PMP22 missense mutations. Neuromuscular Disord. 2011, 21:106.
-
(2011)
Neuromuscular Disord.
, vol.21
, pp. 106
-
-
Russo, M.1
Laura, M.2
Polke, J.M.3
Davis, M.B.4
Blake, J.5
Brandner, S.6
Hughes, R.A.7
Houlden, H.8
Bennett, D.L.9
Lunn, M.P.10
Reilly, M.M.11
-
68
-
-
2642714905
-
Hereditary neuropathy with liability to pressure palsies, Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation
-
Lenssen P.P., Gabreels-Festen A.A., Valentijn L.J., Jongen P.J., van Beersum S.E., van Engelen B.G., van Wensen P.J., Bolhuis P.A., Gabreels F.J., Mariman E.C. Hereditary neuropathy with liability to pressure palsies, Phenotypic differences between patients with the common deletion and a PMP22 frame shift mutation. Brain 1998, 121:1451-1458.
-
(1998)
Brain
, vol.121
, pp. 1451-1458
-
-
Lenssen, P.P.1
Gabreels-Festen, A.A.2
Valentijn, L.J.3
Jongen, P.J.4
van Beersum, S.E.5
van Engelen, B.G.6
van Wensen, P.J.7
Bolhuis, P.A.8
Gabreels, F.J.9
Mariman, E.C.10
-
69
-
-
80054953700
-
The phenotype of the Gly94fsX222 PMP22 insertion
-
de Vries S.D., Verhamme C., van Ruissen F., van Paassen B.W., Arts W.F., Kerkhoff H., van Engelen B.G., Lammens M., de Visser M., Baas F., van der Kooi A.J. The phenotype of the Gly94fsX222 PMP22 insertion. J. Peripheral Nerv. Syst. 2011, 16:113-118.
-
(2011)
J. Peripheral Nerv. Syst.
, vol.16
, pp. 113-118
-
-
de Vries, S.D.1
Verhamme, C.2
van Ruissen, F.3
van Paassen, B.W.4
Arts, W.F.5
Kerkhoff, H.6
van Engelen, B.G.7
Lammens, M.8
de Visser, M.9
Baas, F.10
van der Kooi, A.J.11
-
70
-
-
0033911099
-
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene
-
Mersiyanova I.V., Perepelov A.V., Polyakov A.V., Sitnikov V.F., Dadali E.L., Oparin R.B., Petrin A.N., Evgrafov O.V. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am. J. Hum. Genet. 2000, 67:37.
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 37
-
-
Mersiyanova, I.V.1
Perepelov, A.V.2
Polyakov, A.V.3
Sitnikov, V.F.4
Dadali, E.L.5
Oparin, R.B.6
Petrin, A.N.7
Evgrafov, O.V.8
-
71
-
-
0036819173
-
A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family
-
Georgiou D.M., Zidar J., Korosec M., Middleton L.T., Kyriakides T., Christodoulou K. A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family. Neurogenetics 2002, 4:93.
-
(2002)
Neurogenetics
, vol.4
, pp. 93
-
-
Georgiou, D.M.1
Zidar, J.2
Korosec, M.3
Middleton, L.T.4
Kyriakides, T.5
Christodoulou, K.6
-
72
-
-
0036900365
-
Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals
-
Yoshihara T., Yamamoto M., Hattori N., Misu K., Mori K., Koike H., Sobue G. Identification of novel sequence variants in the neurofilament-light gene in a Japanese population: analysis of Charcot-Marie-Tooth disease patients and normal individuals. J. Peripheral Nerv. Syst. 2002, 7:221.
-
(2002)
J. Peripheral Nerv. Syst.
, vol.7
, pp. 221
-
-
Yoshihara, T.1
Yamamoto, M.2
Hattori, N.3
Misu, K.4
Mori, K.5
Koike, H.6
Sobue, G.7
-
73
-
-
0037370894
-
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease
-
Jordanova A., De Jonghe P., Boerkoel C.F., Takashima H., De Vriendt E., Ceuterick C., Martin J.J., Butler I.J., Mancias P., Papasozomenos S.C., Terespolsky D., Potocki L., Brown C.W., Shy M., Rita D.A., Tournev I., Kremensky I., Lupski J.R., Timmerman V. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain 2003, 126:590.
-
(2003)
Brain
, vol.126
, pp. 590
-
-
Jordanova, A.1
De Jonghe, P.2
Boerkoel, C.F.3
Takashima, H.4
De Vriendt, E.5
Ceuterick, C.6
Martin, J.J.7
Butler, I.J.8
Mancias, P.9
Papasozomenos, S.C.10
Terespolsky, D.11
Potocki, L.12
Brown, C.W.13
Shy, M.14
Rita, D.A.15
Tournev, I.16
Kremensky, I.17
Lupski, J.R.18
Timmerman, V.19
-
74
-
-
0014835861
-
Axon caliber related to neurofilaments and microtubules in sciatic nerve fibers of rats and mice
-
Friede R.L., Samorajski T. Axon caliber related to neurofilaments and microtubules in sciatic nerve fibers of rats and mice. Anat. Rec. 1970, 167:379.
-
(1970)
Anat. Rec.
, vol.167
, pp. 379
-
-
Friede, R.L.1
Samorajski, T.2
-
75
-
-
5444267945
-
Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models
-
Perez-Olle R., Jones S.T., Liem R.K. Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models. Hum. Mol. Genet. 2004, 13:2207.
-
(2004)
Hum. Mol. Genet.
, vol.13
, pp. 2207
-
-
Perez-Olle, R.1
Jones, S.T.2
Liem, R.K.3
-
76
-
-
79957864036
-
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin
-
Auer-Grumbach M., Weger M., Fink-Puches R., Papic L., Frohlich E., Auer-Grumbach P., El Shabrawi-Caelen L., Schabhuttl M., Windpassinger C., Senderek J., Budka H., Trajanoski S., Janecke A.R., Haas A., Metze D., Pieber T.R., Guelly C. Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin. Brain 2011, 134:1839-1852.
-
(2011)
Brain
, vol.134
, pp. 1839-1852
-
-
Auer-Grumbach, M.1
Weger, M.2
Fink-Puches, R.3
Papic, L.4
Frohlich, E.5
Auer-Grumbach, P.6
El Shabrawi-Caelen, L.7
Schabhuttl, M.8
Windpassinger, C.9
Senderek, J.10
Budka, H.11
Trajanoski, S.12
Janecke, A.R.13
Haas, A.14
Metze, D.15
Pieber, T.R.16
Guelly, C.17
-
77
-
-
72449168333
-
Fibulin-5, an integrin-binding matricellular protein: its function in development and disease
-
Yanagisawa H., Schluterman M.K., Brekken R.A. Fibulin-5, an integrin-binding matricellular protein: its function in development and disease. J. Cell Commun. Signal. 2009, 3:337-347.
-
(2009)
J. Cell Commun. Signal.
, vol.3
, pp. 337-347
-
-
Yanagisawa, H.1
Schluterman, M.K.2
Brekken, R.A.3
-
78
-
-
33745229355
-
Role of integrins in peripheral nerves and hereditary neuropathies Neuro
-
Berti C., Nodari A., Wrabetz L., Feltri M.L. Role of integrins in peripheral nerves and hereditary neuropathies Neuro. Nueromol. Med. 2006, 8(1-2):8191-8204.
-
(2006)
Nueromol. Med.
, vol.8
, Issue.1-2
, pp. 8191-8204
-
-
Berti, C.1
Nodari, A.2
Wrabetz, L.3
Feltri, M.L.4
-
79
-
-
0027509953
-
DNA deletion associated with hereditary neuropathy with liability to pressure palsies
-
Chance P.F., Alderson M.K., Leppig K.A., Lensch M.W., Matsunami N., Smith B., Swanson P.D., Odelberg S.J., Disteche C.M., Bird T.D. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 1993, 72:143.
-
(1993)
Cell
, vol.72
, pp. 143
-
-
Chance, P.F.1
Alderson, M.K.2
Leppig, K.A.3
Lensch, M.W.4
Matsunami, N.5
Smith, B.6
Swanson, P.D.7
Odelberg, S.J.8
Disteche, C.M.9
Bird, T.D.10
-
80
-
-
0343067099
-
Hereditary recurrent focal neuropathies: clinical and molecular features
-
Stogbauer F., Young P., Kuhlenbaumer G., De Jonghe P., Timmerman V. Hereditary recurrent focal neuropathies: clinical and molecular features. Neurology 2000, 54:546.
-
(2000)
Neurology
, vol.54
, pp. 546
-
-
Stogbauer, F.1
Young, P.2
Kuhlenbaumer, G.3
De Jonghe, P.4
Timmerman, V.5
-
81
-
-
1642390843
-
Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11×2-p12 deletion
-
Kim S.M., Chung K.W., Choi B.O., Yoon E.S., Choi J.Y., Park K.D., Sunwoo I.N. Hereditary neuropathy with liability to pressure palsies (HNPP) patients of Korean ancestry with chromosome 17p11×2-p12 deletion. Exp. Mol. Med. 2004, 36:28.
-
(2004)
Exp. Mol. Med.
, vol.36
, pp. 28
-
-
Kim, S.M.1
Chung, K.W.2
Choi, B.O.3
Yoon, E.S.4
Choi, J.Y.5
Park, K.D.6
Sunwoo, I.N.7
-
82
-
-
0033985893
-
Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies
-
Andersson P.B., Yuen E., Parko K., So Y.T. Electrodiagnostic features of hereditary neuropathy with liability to pressure palsies. Neurology 2000, 54:40.
-
(2000)
Neurology
, vol.54
, pp. 40
-
-
Andersson, P.B.1
Yuen, E.2
Parko, K.3
So, Y.T.4
-
83
-
-
0037172892
-
Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name
-
Li J., Krajewski K., Shy M.E., Lewis R.A. Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name. Neurology 2002, 58:1769.
-
(2002)
Neurology
, vol.58
, pp. 1769
-
-
Li, J.1
Krajewski, K.2
Shy, M.E.3
Lewis, R.A.4
-
84
-
-
0027772413
-
Connexin mutations in X-linked Charcot-Marie-Tooth disease
-
Bergoffen J., Scherer S.S., Wang S., Scott M.O., Bone L.J., Paul D.L., Chen K., Lensch M.W., Chance P.F., Fischbeck K.H. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 1993, 262:2039.
-
(1993)
Science
, vol.262
, pp. 2039
-
-
Bergoffen, J.1
Scherer, S.S.2
Wang, S.3
Scott, M.O.4
Bone, L.J.5
Paul, D.L.6
Chen, K.7
Lensch, M.W.8
Chance, P.F.9
Fischbeck, K.H.10
-
85
-
-
34047241725
-
CMT1X phenotypes represent loss of GJB1 gene function
-
Shy M.E., Siskind C., Swan E.R., Krajewski K.M., Doherty T., Fuerst D.R., Ainsworth P.J., Lewis R.A., Scherer S.S., Hahn A.F. CMT1X phenotypes represent loss of GJB1 gene function. Neurology 2007, 68:849.
-
(2007)
Neurology
, vol.68
, pp. 849
-
-
Shy, M.E.1
Siskind, C.2
Swan, E.R.3
Krajewski, K.M.4
Doherty, T.5
Fuerst, D.R.6
Ainsworth, P.J.7
Lewis, R.A.8
Scherer, S.S.9
Hahn, A.F.10
-
86
-
-
80054846499
-
Phenotype expression in women with CMT1X
-
Siskind C.E., Murphy S.M., Ovens R., Polke J., Reilly M.M., Shy M.E. Phenotype expression in women with CMT1X. J. Peripheral Nerv. Syst. 2011, 16:102.
-
(2011)
J. Peripheral Nerv. Syst.
, vol.16
, pp. 102
-
-
Siskind, C.E.1
Murphy, S.M.2
Ovens, R.3
Polke, J.4
Reilly, M.M.5
Shy, M.E.6
-
87
-
-
84862210198
-
X inactivation in females with X-linked Charcot-Marie-Tooth disease
-
Murphy S.M., Ovens R., Polke J., Siskind C.E., Laura M., Bull K., Ramdharry G., Houlden H., Murphy R.P., Shy M.E., Reilly M.M. X inactivation in females with X-linked Charcot-Marie-Tooth disease. Neuromuscular Disord. 2012, 22:617.
-
(2012)
Neuromuscular Disord.
, vol.22
, pp. 617
-
-
Murphy, S.M.1
Ovens, R.2
Polke, J.3
Siskind, C.E.4
Laura, M.5
Bull, K.6
Ramdharry, G.7
Houlden, H.8
Murphy, R.P.9
Shy, M.E.10
Reilly, M.M.11
-
88
-
-
84869501779
-
How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?
-
Kleopa K.A., Abrams C.K., Scherer S.S. How do mutations in GJB1 cause X-linked Charcot-Marie-Tooth disease?. Brain Res. 2012, 1487:198-205.
-
(2012)
Brain Res.
, vol.1487
, pp. 198-205
-
-
Kleopa, K.A.1
Abrams, C.K.2
Scherer, S.S.3
-
89
-
-
84881611731
-
Comparison of X-chromosome inactivation in Duchenne muscle/myocardium-manifesting carriers, non-manifesting carriers and related daughters
-
Viggiano E., Picillo E., Cirillo A., Politano L. Comparison of X-chromosome inactivation in Duchenne muscle/myocardium-manifesting carriers, non-manifesting carriers and related daughters. Clin. Genet. 2013, 84:265-270.
-
(2013)
Clin. Genet.
, vol.84
, pp. 265-270
-
-
Viggiano, E.1
Picillo, E.2
Cirillo, A.3
Politano, L.4
-
90
-
-
84882939715
-
X-linked Charcot-Marie-Tooth disease
-
(17 Suppliment)
-
Scherer S.S., Kleopa K.A. X-linked Charcot-Marie-Tooth disease. J. Peripheral Nerv. Syst. 2012, 3:9-13. (17 Suppliment).
-
(2012)
J. Peripheral Nerv. Syst.
, vol.3
, pp. 9-13
-
-
Scherer, S.S.1
Kleopa, K.A.2
-
91
-
-
0032563605
-
Functional gap junctions in the schwann cell myelin sheath
-
Balice-Gordon R.J., Bone L.J., Scherer S.S. Functional gap junctions in the schwann cell myelin sheath. J. Cell Biol. 1998, 142:1095-1104.
-
(1998)
J. Cell Biol.
, vol.142
, pp. 1095-1104
-
-
Balice-Gordon, R.J.1
Bone, L.J.2
Scherer, S.S.3
-
92
-
-
0034027222
-
Mutations in Connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease
-
Abrams C.K., Oh S., Ri Y., Bargiello T.A. Mutations in Connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease. Brain Res. - Brain Res. Rev. 2000, 32:203-214.
-
(2000)
Brain Res. - Brain Res. Rev.
, vol.32
, pp. 203-214
-
-
Abrams, C.K.1
Oh, S.2
Ri, Y.3
Bargiello, T.A.4
-
93
-
-
77957287735
-
Axonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie-Tooth neuropathy
-
Vavlitou N., Sargiannidou I., Markoullis K., Kyriacou K., Scherer S.S., Kleopa K.A. Axonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie-Tooth neuropathy. J. Neuropathol. Exp. Neurol. 2010, 69:945-958.
-
(2010)
J. Neuropathol. Exp. Neurol.
, vol.69
, pp. 945-958
-
-
Vavlitou, N.1
Sargiannidou, I.2
Markoullis, K.3
Kyriacou, K.4
Scherer, S.S.5
Kleopa, K.A.6
-
94
-
-
43249098296
-
Axon-glial signaling and the glial support of axon function
-
Nave K.A., Trapp B.D. Axon-glial signaling and the glial support of axon function. Ann. Rev. Neurosci. 2008, 31:535-561.
-
(2008)
Ann. Rev. Neurosci.
, vol.31
, pp. 535-561
-
-
Nave, K.A.1
Trapp, B.D.2
-
95
-
-
0030035312
-
Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses
-
Nicholson G., Corbett A. Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses. J. Neurol. Neurosurg. Psychiatry 1996, 61:43-46.
-
(1996)
J. Neurol. Neurosurg. Psychiatry
, vol.61
, pp. 43-46
-
-
Nicholson, G.1
Corbett, A.2
-
96
-
-
0345600908
-
The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem
-
Taylor R.A., Simon E.M., Marks H.G., Scherer S.S. The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem. Neurology 2003, 61:1475-1478.
-
(2003)
Neurology
, vol.61
, pp. 1475-1478
-
-
Taylor, R.A.1
Simon, E.M.2
Marks, H.G.3
Scherer, S.S.4
-
97
-
-
60949087740
-
Persistent CNS dysfunction in a boy with CMT1X
-
Siskind C., Feely S.M., Bernes S., Shy M.E., Garbern J.Y. Persistent CNS dysfunction in a boy with CMT1X. J. Neurol. Sci. 2009, 279:109.
-
(2009)
J. Neurol. Sci.
, vol.279
, pp. 109
-
-
Siskind, C.1
Feely, S.M.2
Bernes, S.3
Shy, M.E.4
Garbern, J.Y.5
-
98
-
-
0031051488
-
Connexin 32 in oligodendrocytes and association with myelinated fibers in mouse and rat brain
-
Li J., Hertzberg E.L., Nagy J.I. Connexin 32 in oligodendrocytes and association with myelinated fibers in mouse and rat brain. J. Comp. Neurol. 1997, 379:571-591.
-
(1997)
J. Comp. Neurol.
, vol.379
, pp. 571-591
-
-
Li, J.1
Hertzberg, E.L.2
Nagy, J.I.3
-
99
-
-
18544385024
-
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
-
Baxter R.V., Ben Othmane K., Rochelle J.M., Stajich J.E., Hulette C., Dew-Knight S., Hentati F., Ben Hamida M., Bel S., Stenger J.E., Gilbert J.R., Pericak-Vance M.A., Vance J.M. Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat. Genet. 2002, 30:21.
-
(2002)
Nat. Genet.
, vol.30
, pp. 21
-
-
Baxter, R.V.1
Ben Othmane, K.2
Rochelle, J.M.3
Stajich, J.E.4
Hulette, C.5
Dew-Knight, S.6
Hentati, F.7
Ben Hamida, M.8
Bel, S.9
Stenger, J.E.10
Gilbert, J.R.11
Pericak-Vance, M.A.12
Vance, J.M.13
-
100
-
-
0037370916
-
Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy
-
Senderek J., Bergmann C., Ramaekers V.T., Nelis E., Bernert G., Makowski A., Zuchner S., De Jonghe P., Rudnik-Schoneborn S., Zerres K., Schroder J.M. Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. Brain 2003, 126:642-649.
-
(2003)
Brain
, vol.126
, pp. 642-649
-
-
Senderek, J.1
Bergmann, C.2
Ramaekers, V.T.3
Nelis, E.4
Bernert, G.5
Makowski, A.6
Zuchner, S.7
De Jonghe, P.8
Rudnik-Schoneborn, S.9
Zerres, K.10
Schroder, J.M.11
-
101
-
-
18544388962
-
The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease
-
Cuesta A., Pedrola L., Sevilla T., Garcia-Planells J., Chumillas M.J., Mayordomo F., LeGuern E., Marin I., Vilchez J.J., Palau F. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat. Genet. 2002, 30:22-25.
-
(2002)
Nat. Genet.
, vol.30
, pp. 22-25
-
-
Cuesta, A.1
Pedrola, L.2
Sevilla, T.3
Garcia-Planells, J.4
Chumillas, M.J.5
Mayordomo, F.6
LeGuern, E.7
Marin, I.8
Vilchez, J.J.9
Palau, F.10
-
102
-
-
25444514731
-
Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease
-
Niemann A., Ruegg M., La Padula V., Schenone A., Suter U. Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. J. Cell Biol. 2005, 170:1067.
-
(2005)
J. Cell Biol.
, vol.170
, pp. 1067
-
-
Niemann, A.1
Ruegg, M.2
La Padula, V.3
Schenone, A.4
Suter, U.5
-
103
-
-
70350348361
-
GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance
-
Niemann A., Wagner K.M., Ruegg M., Suter U. GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance. Neurobiol. Dis. 2009, 36:509-520.
-
(2009)
Neurobiol. Dis.
, vol.36
, pp. 509-520
-
-
Niemann, A.1
Wagner, K.M.2
Ruegg, M.3
Suter, U.4
-
104
-
-
78650804415
-
Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease
-
Sivera R., Espinos C., Vilchez J.J., Mas F., Martinez-Rubio D., Chumillas M.J., Mayordomo F., Muelas N., Bataller L., Palau F., Sevilla T. Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease. J. Peripheral Nerv. Syst. 2010, 15:334.
-
(2010)
J. Peripheral Nerv. Syst.
, vol.15
, pp. 334
-
-
Sivera, R.1
Espinos, C.2
Vilchez, J.J.3
Mas, F.4
Martinez-Rubio, D.5
Chumillas, M.J.6
Mayordomo, F.7
Muelas, N.8
Bataller, L.9
Palau, F.10
Sevilla, T.11
-
105
-
-
77957794066
-
The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K
-
Crimella C., Tonelli A., Airoldi G., Baschirotto C., D'Angelo M.G., Bonato S., Losito L., Trabacca A., Bresolin N., Bassi M.T. The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K. J. Med. Genet. 2010, 47:712.
-
(2010)
J. Med. Genet.
, vol.47
, pp. 712
-
-
Crimella, C.1
Tonelli, A.2
Airoldi, G.3
Baschirotto, C.4
D'Angelo, M.G.5
Bonato, S.6
Losito, L.7
Trabacca, A.8
Bresolin, N.9
Bassi, M.T.10
-
106
-
-
84888264703
-
Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series
-
Sivera R., Sevilla T., Vilchez J.J., Martinez-Rubio D., Chumillas M.J., Vazquez J.F., Muelas N., Bataller L., Millan J.M., Palau F., Espinos C. Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series. Neurology 2013, 81:1617.
-
(2013)
Neurology
, vol.81
, pp. 1617
-
-
Sivera, R.1
Sevilla, T.2
Vilchez, J.J.3
Martinez-Rubio, D.4
Chumillas, M.J.5
Vazquez, J.F.6
Muelas, N.7
Bataller, L.8
Millan, J.M.9
Palau, F.10
Espinos, C.11
-
107
-
-
8144226612
-
Clinicopathological and genetic study of early-onset demyelinating neuropathy
-
Parman Y., Battaloglu E., Baris I., Bilir B., Poyraz M., Bissar-Tadmouri N., Williams A., Ammar N., Nelis E., Timmerman V., De Jonghe P., Najafov A., Deymeer F., Serdaroglu P., Brophy P.J., Said G. Clinicopathological and genetic study of early-onset demyelinating neuropathy. Brain 2004, 127:2540.
-
(2004)
Brain
, vol.127
, pp. 2540
-
-
Parman, Y.1
Battaloglu, E.2
Baris, I.3
Bilir, B.4
Poyraz, M.5
Bissar-Tadmouri, N.6
Williams, A.7
Ammar, N.8
Nelis, E.9
Timmerman, V.10
De Jonghe, P.11
Najafov, A.12
Deymeer, F.13
Serdaroglu, P.14
Brophy, P.J.15
Said, G.16
-
108
-
-
7044269128
-
Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family
-
Verny C., Ravise N., Leutenegger A.L., Pouplard F., Dubourg O., Tardieu S., Dubas F., Brice A., Genin E., LeGuern E. Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family. Neurology 2004, 63:1527.
-
(2004)
Neurology
, vol.63
, pp. 1527
-
-
Verny, C.1
Ravise, N.2
Leutenegger, A.L.3
Pouplard, F.4
Dubourg, O.5
Tardieu, S.6
Dubas, F.7
Brice, A.8
Genin, E.9
LeGuern, E.10
-
109
-
-
0034062698
-
Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2
-
Bolino A., Muglia M., Conforti F.L., LeGuern E., Salih M.A., Georgiou D.M., Christodoulou K., Hausmanowa-Petrusewicz I., Mandich P., Schenone A., Gambardella A., Bono F., Quattrone A., Devoto M., Monaco A.P. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2. Nat. Genet. 2000, 25:17.
-
(2000)
Nat. Genet.
, vol.25
, pp. 17
-
-
Bolino, A.1
Muglia, M.2
Conforti, F.L.3
LeGuern, E.4
Salih, M.A.5
Georgiou, D.M.6
Christodoulou, K.7
Hausmanowa-Petrusewicz, I.8
Mandich, P.9
Schenone, A.10
Gambardella, A.11
Bono, F.12
Quattrone, A.13
Devoto, M.14
Monaco, A.P.15
-
110
-
-
0035313320
-
The myotubularin family: from genetic disease to phosphoinositide metabolism
-
Laporte J., Blondeau F., Buj-Bello A., Mandel J.L. The myotubularin family: from genetic disease to phosphoinositide metabolism. Trends Genet. 2001, 17:221-228.
-
(2001)
Trends Genet.
, vol.17
, pp. 221-228
-
-
Laporte, J.1
Blondeau, F.2
Buj-Bello, A.3
Mandel, J.L.4
-
111
-
-
67650487534
-
Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in Schwann cell myelination
-
Bolis A., Coviello S., Visigalli I., Taveggia C., Bachi A., Chishti A.H., Hanada T., Quattrini A., Previtali S.C., Biffi A., Bolino A. Dlg1, Sec8, and Mtmr2 regulate membrane homeostasis in Schwann cell myelination. J. Neurosci. 2009, 29:8858-8870.
-
(2009)
J. Neurosci.
, vol.29
, pp. 8858-8870
-
-
Bolis, A.1
Coviello, S.2
Visigalli, I.3
Taveggia, C.4
Bachi, A.5
Chishti, A.H.6
Hanada, T.7
Quattrini, A.8
Previtali, S.C.9
Biffi, A.10
Bolino, A.11
-
112
-
-
39849096009
-
Multiple disease-linked myotubularin mutations cause NFL assembly defects in cultured cells and disrupt myotubularin dimerization
-
Goryunov D., Nightingale A., Bornfleth L., Leung C., Liem R.K. Multiple disease-linked myotubularin mutations cause NFL assembly defects in cultured cells and disrupt myotubularin dimerization. J. Neurochem. 2008, 104:1536-1552.
-
(2008)
J. Neurochem.
, vol.104
, pp. 1536-1552
-
-
Goryunov, D.1
Nightingale, A.2
Bornfleth, L.3
Leung, C.4
Liem, R.K.5
-
113
-
-
0038744272
-
Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma
-
Azzedine H., Bolino A., Taieb T., Birouk N., Di Duca M., Bouhouche A., Benamou S., Mrabet A., Hammadouche T., Chkili T., Gouider R., Ravazzolo R., Brice A., Laporte J., LeGuern E. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma. Am. J. Hum. Genet. 2003, 72:1141.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 1141
-
-
Azzedine, H.1
Bolino, A.2
Taieb, T.3
Birouk, N.4
Di Duca, M.5
Bouhouche, A.6
Benamou, S.7
Mrabet, A.8
Hammadouche, T.9
Chkili, T.10
Gouider, R.11
Ravazzolo, R.12
Brice, A.13
Laporte, J.14
LeGuern, E.15
-
114
-
-
0037322882
-
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15
-
Senderek J., Bergmann C., Weber S., Ketelsen U.P., Schorle H., Rudnik-Schoneborn S., Buttner R., Buchheim E., Zerres K. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Hum. Mol. Genet. 2003, 12:349.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 349
-
-
Senderek, J.1
Bergmann, C.2
Weber, S.3
Ketelsen, U.P.4
Schorle, H.5
Rudnik-Schoneborn, S.6
Buttner, R.7
Buchheim, E.8
Zerres, K.9
-
115
-
-
84879394688
-
Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes
-
Tazir M., Bellatache M., Nouioua S., Vallat J.M. Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes. J. Peripheral Nerv. Syst. 2013, 18:113-129.
-
(2013)
J. Peripheral Nerv. Syst.
, vol.18
, pp. 113-129
-
-
Tazir, M.1
Bellatache, M.2
Nouioua, S.3
Vallat, J.M.4
-
116
-
-
84881282144
-
SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3
-
Nakhro K., Park J.M., Hong Y.B., Park J.H., Nam S.H., Yoon B.R., Yoo J.H., Koo H., Jung S.C., Kim H.L., Kim J.Y., Choi K.G., Choi B.O., Chung K.W. SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3. Neurology 2015, 81:165-173.
-
(2015)
Neurology
, vol.81
, pp. 165-173
-
-
Nakhro, K.1
Park, J.M.2
Hong, Y.B.3
Park, J.H.4
Nam, S.H.5
Yoon, B.R.6
Yoo, J.H.7
Koo, H.8
Jung, S.C.9
Kim, H.L.10
Kim, J.Y.11
Choi, K.G.12
Choi, B.O.13
Chung, K.W.14
-
117
-
-
63749100101
-
The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy
-
Houlden H., Laura M., Ginsberg L., Jungbluth H., Robb S.A., Blake J., Robinson S., King R.H., Reilly M.M. The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy. Neuromuscular Disord. 2015, 19:264-269.
-
(2015)
Neuromuscular Disord.
, vol.19
, pp. 264-269
-
-
Houlden, H.1
Laura, M.2
Ginsberg, L.3
Jungbluth, H.4
Robb, S.A.5
Blake, J.6
Robinson, S.7
King, R.H.8
Reilly, M.M.9
-
118
-
-
33748309354
-
Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations
-
Azzedine H., Ravise N., Verny C., Gabreels-Festen A., Lammens M., Grid D., Vallat J.M., Durosier G., Senderek J., Nouioua S., Hamadouche T., Bouhouche A., Guilbot A., Stendel C., Ruberg M., Brice A., Birouk N., Dubourg O., Tazir M., LeGuern E. Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. Neurology 2006, 67:602-606.
-
(2006)
Neurology
, vol.67
, pp. 602-606
-
-
Azzedine, H.1
Ravise, N.2
Verny, C.3
Gabreels-Festen, A.4
Lammens, M.5
Grid, D.6
Vallat, J.M.7
Durosier, G.8
Senderek, J.9
Nouioua, S.10
Hamadouche, T.11
Bouhouche, A.12
Guilbot, A.13
Stendel, C.14
Ruberg, M.15
Brice, A.16
Birouk, N.17
Dubourg, O.18
Tazir, M.19
LeGuern, E.20
more..
-
119
-
-
80052628610
-
High frequency of SH3TC2 mutations in Czech HMSN I patients
-
Lassuthova P., Mazanec R., Vondracek P., Siskova D., Haberlova J., Sabova J., Seeman P. High frequency of SH3TC2 mutations in Czech HMSN I patients. Clin. Genet. 2011, 80:334.
-
(2011)
Clin. Genet.
, vol.80
, pp. 334
-
-
Lassuthova, P.1
Mazanec, R.2
Vondracek, P.3
Siskova, D.4
Haberlova, J.5
Sabova, J.6
Seeman, P.7
-
120
-
-
33745994264
-
A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes
-
Gooding R., Colomer J., King R., Angelicheva D., Marns L., Parman Y., Chandler D., Bertranpetit J., Kalaydjieva L. A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes. J. Med. Genet. 2005, 42:e69.
-
(2005)
J. Med. Genet.
, vol.42
-
-
Gooding, R.1
Colomer, J.2
King, R.3
Angelicheva, D.4
Marns, L.5
Parman, Y.6
Chandler, D.7
Bertranpetit, J.8
Kalaydjieva, L.9
-
121
-
-
0242522455
-
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy
-
Senderek J., Bergmann C., Stendel C., Kirfel J., Verpoorten N., De Jonghe P., Timmerman V., Chrast R., Verheijen M.H., Lemke G., Battaloglu E., Parman Y., Erdem S., Tan E., Topaloglu H., Hahn A., Muller-Felber W., Rizzuto N., Fabrizi G.M., Stuhrmann M., Rudnik-Schoneborn S., Zuchner S., Michael Schroder J., Buchheim E., Straub V., Klepper J., Huehne K., Rautenstrauss B., Buttner R., Nelis E., Zerres K. Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Am. J. Hum. Genet. 2003, 73:1106.
-
(2003)
Am. J. Hum. Genet.
, vol.73
, pp. 1106
-
-
Senderek, J.1
Bergmann, C.2
Stendel, C.3
Kirfel, J.4
Verpoorten, N.5
De Jonghe, P.6
Timmerman, V.7
Chrast, R.8
Verheijen, M.H.9
Lemke, G.10
Battaloglu, E.11
Parman, Y.12
Erdem, S.13
Tan, E.14
Topaloglu, H.15
Hahn, A.16
Muller-Felber, W.17
Rizzuto, N.18
Fabrizi, G.M.19
Stuhrmann, M.20
Rudnik-Schoneborn, S.21
Zuchner, S.22
Michael Schroder, J.23
Buchheim, E.24
Straub, V.25
Klepper, J.26
Huehne, K.27
Rautenstrauss, B.28
Buttner, R.29
Nelis, E.30
Zerres, K.31
more..
-
122
-
-
63749100101
-
The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy
-
Houlden H., Laura M., Ginsberg L., Jungbluth H., Robb S.A., Blake J., Robinson S., King R.H., Reilly M.M. The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy. Neuromuscular Disord. 2009, 19:264.
-
(2009)
Neuromuscular Disord.
, vol.19
, pp. 264
-
-
Houlden, H.1
Laura, M.2
Ginsberg, L.3
Jungbluth, H.4
Robb, S.A.5
Blake, J.6
Robinson, S.7
King, R.H.8
Reilly, M.M.9
-
123
-
-
0032940401
-
Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33
-
Gabreels-Festen A., van Beersum S., Eshuis L., LeGuern E., Gabreels F., van Engelen B., Mariman E. Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33. J. Neurol. Neurosurg. Psychiatry 1999, 66:569-574.
-
(1999)
J. Neurol. Neurosurg. Psychiatry
, vol.66
, pp. 569-574
-
-
Gabreels-Festen, A.1
van Beersum, S.2
Eshuis, L.3
LeGuern, E.4
Gabreels, F.5
van Engelen, B.6
Mariman, E.7
-
124
-
-
77950620209
-
Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C
-
Roberts R.C., Peden A.A., Buss F., Bright N.A., Latouche M., Reilly M.M., Kendrick-Jones J., Luzio J.P. Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C. Hum. Mol. Genet. 2010, 19:1009.
-
(2010)
Hum. Mol. Genet.
, vol.19
, pp. 1009
-
-
Roberts, R.C.1
Peden, A.A.2
Buss, F.3
Bright, N.A.4
Latouche, M.5
Reilly, M.M.6
Kendrick-Jones, J.7
Luzio, J.P.8
-
125
-
-
70350465107
-
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system
-
(Erratum appears in Proc. Natl. Acad. Sci. U. S. A. (2010) Aug 24 107(34):15305 Note: Kleine, Henning [added] Luscher, Bernhard [added])
-
Arnaud E., Zenker J., de Preux Charles A.S., Stendel C., Roos A., Medard J.J., Tricaud N., Kleine H., Luscher B., Weis J., Suter U., Senderek J., Chrast R. SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system. Proceedings of the National Academy of Sciences of the United States of America 2010, 106:17528-17533. (Erratum appears in Proc. Natl. Acad. Sci. U. S. A. (2010) Aug 24 107(34):15305 Note: Kleine, Henning [added] Luscher, Bernhard [added]).
-
(2010)
Proceedings of the National Academy of Sciences of the United States of America
, vol.106
, pp. 17528-17533
-
-
Arnaud, E.1
Zenker, J.2
de Preux Charles, A.S.3
Stendel, C.4
Roos, A.5
Medard, J.J.6
Tricaud, N.7
Kleine, H.8
Luscher, B.9
Weis, J.10
Suter, U.11
Senderek, J.12
Chrast, R.13
-
126
-
-
84879605850
-
Sh3tc2 deficiency affects neuregulin-1/ErbB signaling
-
Gouttenoire E.A., Lupo V., Calpena E., Bartesaghi L., Schupfer F., Medard J.J., Maurer F., Beckmann J.S., Senderek J., Palau F., Espinos C., Chrast R. Sh3tc2 deficiency affects neuregulin-1/ErbB signaling. Glia 2013, 61:1041-1051.
-
(2013)
Glia
, vol.61
, pp. 1041-1051
-
-
Gouttenoire, E.A.1
Lupo, V.2
Calpena, E.3
Bartesaghi, L.4
Schupfer, F.5
Medard, J.J.6
Maurer, F.7
Beckmann, J.S.8
Senderek, J.9
Palau, F.10
Espinos, C.11
Chrast, R.12
-
127
-
-
0033910767
-
N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom
-
Kalaydjieva L., Gresham D., Gooding R., Heather L., Baas F., de Jonge R., Blechschmidt K., Angelicheva D., Chandler D., Worsley P., Rosenthal A., King R.H., Thomas P.K. N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. Am. J. Hum. Genet. 2000, 67:47-58.
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 47-58
-
-
Kalaydjieva, L.1
Gresham, D.2
Gooding, R.3
Heather, L.4
Baas, F.5
de Jonge, R.6
Blechschmidt, K.7
Angelicheva, D.8
Chandler, D.9
Worsley, P.10
Rosenthal, A.11
King, R.H.12
Thomas, P.K.13
-
128
-
-
0007667246
-
Ultrastructural changes in peripheral nerve in hereditary motor and sensory neuropathy-Lom
-
King R.H., Tournev I., Colomer J., Merlini L., Kalaydjieva L., Thomas P.K. Ultrastructural changes in peripheral nerve in hereditary motor and sensory neuropathy-Lom. Neuropathol. Appl. Neurobiol. 1999, 25:306-312.
-
(1999)
Neuropathol. Appl. Neurobiol.
, vol.25
, pp. 306-312
-
-
King, R.H.1
Tournev, I.2
Colomer, J.3
Merlini, L.4
Kalaydjieva, L.5
Thomas, P.K.6
-
129
-
-
79954631619
-
Ndrg1 in development and maintenance of the myelin sheath
-
King R.H., Chandler D., Lopaticki S., Huang D., Blake J., Muddle J.R., Kilpatrick T., Nourallah M., Miyata T., Okuda T., Carter K.W., Hunter M., Angelicheva D., Morahan G., Kalaydjieva L. Ndrg1 in development and maintenance of the myelin sheath. Neurobiol. Dis. 2011, 42:368-380.
-
(2011)
Neurobiol. Dis.
, vol.42
, pp. 368-380
-
-
King, R.H.1
Chandler, D.2
Lopaticki, S.3
Huang, D.4
Blake, J.5
Muddle, J.R.6
Kilpatrick, T.7
Nourallah, M.8
Miyata, T.9
Okuda, T.10
Carter, K.W.11
Hunter, M.12
Angelicheva, D.13
Morahan, G.14
Kalaydjieva, L.15
-
130
-
-
0035121784
-
Periaxin mutations cause recessive Dejerine-Sottas neuropathy
-
(Erratum appears in Am. J. Hum. Genet. (2001) Feb 68 (2) 557)
-
Boerkoel C.F., Takashima H., Stankiewicz P., Garcia C.A., Leber S.M., Rhee-Morris L., Lupski J.R. Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am. J. Hum. Genet. 2001, 68:325-333. (Erratum appears in Am. J. Hum. Genet. (2001) Feb 68 (2) 557).
-
(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
-
131
-
-
0035864930
-
A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease
-
Guilbot A., Williams A., Ravise N., Verny C., Brice A., Sherman D.L., Brophy P.J., LeGuern E., Delague V., Bareil C., Megarbane A., Claustres M. A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. Hum. Mol. Genet. 2001, 10:415-421.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 415-421
-
-
Guilbot, A.1
Williams, A.2
Ravise, N.3
Verny, C.4
Brice, A.5
Sherman, D.L.6
Brophy, P.J.7
LeGuern, E.8
Delague, V.9
Bareil, C.10
Megarbane, A.11
Claustres, M.12
-
132
-
-
78650015297
-
Four novel cases of periaxin-related neuropathy and review of the literature
-
Marchesi C., Milani M., Morbin M., Cesani M., Lauria G., Scaioli V., Piccolo G., Fabrizi G.M., Cavallaro T., Taroni F., Pareyson D. Four novel cases of periaxin-related neuropathy and review of the literature. Neurology 2010, 75:1830.
-
(2010)
Neurology
, vol.75
, pp. 1830
-
-
Marchesi, C.1
Milani, M.2
Morbin, M.3
Cesani, M.4
Lauria, G.5
Scaioli, V.6
Piccolo, G.7
Fabrizi, G.M.8
Cavallaro, T.9
Taroni, F.10
Pareyson, D.11
-
133
-
-
0028204901
-
Periaxin, a novel protein of myelinating Schwann cells with a possible role in axonal ensheathment
-
Gillespie C.S., Sherman D.L., Blair G.E., Brophy P.J. Periaxin, a novel protein of myelinating Schwann cells with a possible role in axonal ensheathment. Neuron 1994, 12:497-508.
-
(1994)
Neuron
, vol.12
, pp. 497-508
-
-
Gillespie, C.S.1
Sherman, D.L.2
Blair, G.E.3
Brophy, P.J.4
-
134
-
-
0029615322
-
Periaxin expression in myelinating Schwann cells: modulation by axon-glial interactions and polarized localization during development
-
Scherer S.S., Xu Y.T., Bannerman P.G., Sherman D.L., Brophy P.J. Periaxin expression in myelinating Schwann cells: modulation by axon-glial interactions and polarized localization during development. Development 1995, 121:4265-4273.
-
(1995)
Development
, vol.121
, pp. 4265-4273
-
-
Scherer, S.S.1
Xu, Y.T.2
Bannerman, P.G.3
Sherman, D.L.4
Brophy, P.J.5
-
135
-
-
0034681351
-
A tripartite nuclear localization signal in the PDZ-domain protein l-periaxin
-
Sherman D.L., Brophy P.J. A tripartite nuclear localization signal in the PDZ-domain protein l-periaxin. J. Biol. Chem. 2000, 275:4537-4540.
-
(2000)
J. Biol. Chem.
, vol.275
, pp. 4537-4540
-
-
Sherman, D.L.1
Brophy, P.J.2
-
136
-
-
0034968820
-
Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy
-
Sherman D.L., Fabrizi C., Gillespie C.S., Brophy P.J. Specific disruption of a schwann cell dystrophin-related protein complex in a demyelinating neuropathy. Neuron 2001, 30:677-687.
-
(2001)
Neuron
, vol.30
, pp. 677-687
-
-
Sherman, D.L.1
Fabrizi, C.2
Gillespie, C.S.3
Brophy, P.J.4
-
137
-
-
4544327731
-
Restricted growth of Schwann cells lacking Cajal bands slows conduction in myelinated nerves
-
Court F.A., Sherman D.L., Pratt T., Garry E.M., Ribchester R.R., Cottrell D.F., Fleetwood-Walker S.M., Brophy P.J. Restricted growth of Schwann cells lacking Cajal bands slows conduction in myelinated nerves. Nature 2004, 431:191-195.
-
(2004)
Nature
, vol.431
, pp. 191-195
-
-
Court, F.A.1
Sherman, D.L.2
Pratt, T.3
Garry, E.M.4
Ribchester, R.R.5
Cottrell, D.F.6
Fleetwood-Walker, S.M.7
Brophy, P.J.8
-
138
-
-
84863422813
-
Drp2 and periaxin form Cajal bands with dystroglycan but have distinct roles in Schwann cell growth
-
Sherman D.L., Wu L.M., Grove M., Gillespie C.S., Brophy P.J. Drp2 and periaxin form Cajal bands with dystroglycan but have distinct roles in Schwann cell growth. J. Neurosci. 2012, 32:9419-9428.
-
(2012)
J. Neurosci.
, vol.32
, pp. 9419-9428
-
-
Sherman, D.L.1
Wu, L.M.2
Grove, M.3
Gillespie, C.S.4
Brophy, P.J.5
-
139
-
-
84876801207
-
Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth
-
Sevilla T., Martinez-Rubio D., Marquez C., Paradas C., Colomer J., Jaijo T., Millan J.M., Palau F., Espinos C. Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth. Clin. Genet. 2013, 83:565-570.
-
(2013)
Clin. Genet.
, vol.83
, pp. 565-570
-
-
Sevilla, T.1
Martinez-Rubio, D.2
Marquez, C.3
Paradas, C.4
Colomer, J.5
Jaijo, T.6
Millan, J.M.7
Palau, F.8
Espinos, C.9
-
140
-
-
70450265609
-
A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy-Russe (HMSNR)
-
Hantke J., Chandler D., King R., Wanders R.J., Angelicheva D., Tournev I., McNamara E., Kwa Guergueltcheva M.V., Kaneva R., Baas F., Kalaydjieva L. A mutation in an alternative untranslated exon of hexokinase 1 associated with hereditary motor and sensory neuropathy-Russe (HMSNR). Eur. J. Hum. Genet. 2009, 17:1606-1614.
-
(2009)
Eur. J. Hum. Genet.
, vol.17
, pp. 1606-1614
-
-
Hantke, J.1
Chandler, D.2
King, R.3
Wanders, R.J.4
Angelicheva, D.5
Tournev, I.6
McNamara, E.7
Kwa Guergueltcheva, M.V.8
Kaneva, R.9
Baas, F.10
Kalaydjieva, L.11
-
141
-
-
84876801207
-
Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth
-
Sevilla T., Martinez-Rubio D., Marquez C., Paradas C., Colomer J., Jaijo T., Millan J.M., Palau F., Espinos C. Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth. Clin. Genet. 2013, 83:565-570.
-
(2013)
Clin. Genet.
, vol.83
, pp. 565-570
-
-
Sevilla, T.1
Martinez-Rubio, D.2
Marquez, C.3
Paradas, C.4
Colomer, J.5
Jaijo, T.6
Millan, J.M.7
Palau, F.8
Espinos, C.9
-
142
-
-
20144377496
-
Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11×21-q13.11
-
De Sandre-Giovannoli A., Delague V., Hamadouche T., Chaouch M., Krahn M., Boccaccio I., Maisonobe T., Chouery E., Jabbour R., Atweh S., Grid D., Megarbane A., Levy N. Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11×21-q13.11. J. Med. Genet. 2005, 42:260-265.
-
(2005)
J. Med. Genet.
, vol.42
, pp. 260-265
-
-
De Sandre-Giovannoli, A.1
Delague, V.2
Hamadouche, T.3
Chaouch, M.4
Krahn, M.5
Boccaccio, I.6
Maisonobe, T.7
Chouery, E.8
Jabbour, R.9
Atweh, S.10
Grid, D.11
Megarbane, A.12
Levy, N.13
-
143
-
-
84871796541
-
Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells
-
Horn M., Baumann R., Pereira J.A., Sidiropoulos P.N., Somandin C., Welzl H., Stendel C., Luhmann T., Wessig C., Toyka K.V., Relvas J.B., Senderek J., Suter U. Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells. Brain 2012, 135:3567-3583.
-
(2012)
Brain
, vol.135
, pp. 3567-3583
-
-
Horn, M.1
Baumann, R.2
Pereira, J.A.3
Sidiropoulos, P.N.4
Somandin, C.5
Welzl, H.6
Stendel, C.7
Luhmann, T.8
Wessig, C.9
Toyka, K.V.10
Relvas, J.B.11
Senderek, J.12
Suter, U.13
-
144
-
-
34447133038
-
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J
-
Chow C.Y., Zhang Y., Dowling J.J., Jin N., Adamska M., Shiga K., Szigeti K., Shy M.E., Li J., Zhang X., Lupski J.R., Weisman L.S., Meisler M.H. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature 2007, 448:68-72.
-
(2007)
Nature
, vol.448
, pp. 68-72
-
-
Chow, C.Y.1
Zhang, Y.2
Dowling, J.J.3
Jin, N.4
Adamska, M.5
Shiga, K.6
Szigeti, K.7
Shy, M.E.8
Li, J.9
Zhang, X.10
Lupski, J.R.11
Weisman, L.S.12
Meisler, M.H.13
-
145
-
-
79954471977
-
Distinct pathogenic processes between Fig4-deficient motor and sensory neurons
-
Katona I., Zhang X., Bai Y., Shy M.E., Guo J., Yan Q., Hatfield J., Kupsky W.J., Li J. Distinct pathogenic processes between Fig4-deficient motor and sensory neurons. Eur. J. Neurosci. 2011, 33:1401-1410.
-
(2011)
Eur. J. Neurosci.
, vol.33
, pp. 1401-1410
-
-
Katona, I.1
Zhang, X.2
Bai, Y.3
Shy, M.E.4
Guo, J.5
Yan, Q.6
Hatfield, J.7
Kupsky, W.J.8
Li, J.9
-
146
-
-
49449098975
-
Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration
-
Zhang X., Chow C.Y., Sahenk Z., Shy M.E., Meisler M.H., Li J. Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration. Brain 2008, 131:1990.
-
(2008)
Brain
, vol.131
, pp. 1990
-
-
Zhang, X.1
Chow, C.Y.2
Sahenk, Z.3
Shy, M.E.4
Meisler, M.H.5
Li, J.6
-
147
-
-
84922435010
-
Loss of Fig. 4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy
-
Vaccari I., Carbone A., Previtali S.C., Mironova Y.A., Alberizzi V., Noseda R., Rivellini C., Bianchi F., Del Carro U., D'Antonio M., Lenk G.M., Wrabetz L., Giger R.J., Meisler M.H., Bolino A. Loss of Fig. 4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy. Hum. Mol. Genet. 2015, 24(2):383-396.
-
(2015)
Hum. Mol. Genet.
, vol.24
, Issue.2
, pp. 383-396
-
-
Vaccari, I.1
Carbone, A.2
Previtali, S.C.3
Mironova, Y.A.4
Alberizzi, V.5
Noseda, R.6
Rivellini, C.7
Bianchi, F.8
Del Carro, U.9
D'Antonio, M.10
Lenk, G.M.11
Wrabetz, L.12
Giger, R.J.13
Meisler, M.H.14
Bolino, A.15
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