-
2
-
-
79551488413
-
Charcot-Marie-Tooth disease subtypes and genetic testing strategies
-
Saporta AS, Sottile SL, Miller LJ, et al. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol 2011;69:22-33
-
(2011)
Ann Neurol
, vol.69
, pp. 22-33
-
-
Saporta, A.S.1
Sottile, S.L.2
Miller, L.J.3
-
3
-
-
33745278558
-
Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease
-
Pareyson D, Scaioli V, Laura M. Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease. Neuromolecular Med 2006;8:3-22
-
(2006)
Neuromolecular Med
, vol.8
, pp. 3-22
-
-
Pareyson, D.1
Scaioli, V.2
Laura, M.3
-
4
-
-
6944246275
-
Charcot-Marie-Tooth disease: An update
-
Shy ME. Charcot-Marie-Tooth disease: An update. Curr Opin Neurol 2004;17:579-85
-
(2004)
Curr Opin Neurol
, vol.17
, pp. 579-585
-
-
Shy, M.E.1
-
5
-
-
0014200418
-
Charcot-Marie-Tooth disease and nephritis
-
Lemieux G, Neemeh JA. Charcot-Marie-Tooth disease and nephritis. Can Med Assoc J 1967;97:1193-98
-
(1967)
Can Med Assoc J
, vol.97
, pp. 1193-1198
-
-
Lemieux, G.1
Neemeh, J.A.2
-
6
-
-
84855171766
-
INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy
-
Boyer O, Nevo F, Plaisier E, et al. INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy. N Engl J Med 2011;365:2377-88
-
(2011)
N Engl J Med
, vol.365
, pp. 2377-2388
-
-
Boyer, O.1
Nevo, F.2
Plaisier, E.3
-
7
-
-
67650566835
-
INF2 is an endoplasmic reticulum-associated formin protein
-
Chhabra ES, Ramabhadran V, Gerber SA, et al. INF2 is an endoplasmic reticulum-associated formin protein. J Cell Sci 2009;122:1430-40
-
(2009)
J Cell Sci
, vol.122
, pp. 1430-1440
-
-
Chhabra, E.S.1
Ramabhadran, V.2
Gerber, S.A.3
-
8
-
-
73349132341
-
Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis
-
Brown EJ, Schlondorff JS, Becker DJ, et al. Mutations in the formin gene INF2 cause focal segmental glomerulosclerosis. Nat Genet 2010; 42:72-76
-
(2010)
Nat Genet
, vol.42
, pp. 72-76
-
-
Brown, E.J.1
Schlondorff, J.S.2
Becker, D.J.3
-
9
-
-
79551656622
-
Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis
-
Boyer O, Benoit G, Gribouval O, et al. Mutations in INF2 are a major cause of autosomal dominant focal segmental glomerulosclerosis. J Am Soc Nephrol 2011;22:239-45
-
(2011)
J Am Soc Nephrol
, vol.22
, pp. 239-245
-
-
Boyer, O.1
Benoit, G.2
Gribouval, O.3
-
10
-
-
84882837398
-
-
Dyck P Thomas P Eds. Peripheral Neuropathy. Philadelphia: Elsevier Saunders
-
Kimura J. Nerve conduction studies and needle electromyography. In: Dyck P, Thomas P eds. Peripheral neuropathy. Philadelphia: Elsevier Saunders, 2005:899-970
-
(2005)
Nerve Conduction Studies and Needle Electromyography
, pp. 899-970
-
-
Kimura, J.1
-
11
-
-
70350571135
-
On and around microtubules: An overview
-
Wade RH. On and around microtubules: An overview. Mol Biotechnol 2009;43:177-91
-
(2009)
Mol Biotechnol
, vol.43
, pp. 177-191
-
-
Wade, R.H.1
-
12
-
-
58149241066
-
Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations
-
Vallat JM, Ouvrier RA, Pollard JD, et al. Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations. J Neuropathol Exp Neurol 2008;67:1097-102
-
(2008)
J Neuropathol Exp Neurol
, vol.67
, pp. 1097-1102
-
-
Vallat, J.M.1
Ouvrier, R.A.2
Pollard, J.D.3
-
13
-
-
0036983427
-
Immunocytological studies of L-MAG expression regulation during myelination of embryonic brain cell cocultures
-
Keita M, Magy L, Heape A, et al. Immunocytological studies of L-MAG expression regulation during myelination of embryonic brain cell cocultures. Dev Neurosci 2002;24:495-503
-
(2002)
Dev Neurosci
, vol.24
, pp. 495-503
-
-
Keita, M.1
Magy, L.2
Heape, A.3
-
14
-
-
82655181325
-
Differential interactions of the formins INF2, mDia1, and mDia2 with microtubules
-
Gaillard J, Ramabhadran V, Neumanne E, et al. Differential interactions of the formins INF2, mDia1, and mDia2 with microtubules. Mol Biol Cell 2011;22:4575-87
-
(2011)
Mol Biol Cell
, vol.22
, pp. 4575-4587
-
-
Gaillard, J.1
Ramabhadran, V.2
Neumanne, E.3
-
15
-
-
84872769447
-
An actin-dependent step in mitochondrial fission mediated by the ER-associated formin INF2
-
Korobova F, Ramabhadran V, Higgs HN. An actin-dependent step in mitochondrial fission mediated by the ER-associated formin INF2. Science 2013;339:464-67
-
(2013)
Science
, vol.339
, pp. 464-467
-
-
Korobova, F.1
Ramabhadran, V.2
Higgs, H.N.3
-
16
-
-
0018942439
-
The clinical features of hereditary motor and sensory neuropathy types i and II
-
Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980;103:259-80
-
(1980)
Brain
, vol.103
, pp. 259-280
-
-
Harding, A.E.1
Thomas, P.K.2
-
17
-
-
0017713471
-
The peroneal muscular atrophy syndrome. Clinical, genetic, electrophysiological and nerve biopsy studies. Part 2. Observations on pathological changes in sural nerve biopsies
-
Madrid R, Bradley WG, Davis CJ. The peroneal muscular atrophy syndrome. Clinical, genetic, electrophysiological and nerve biopsy studies. Part 2. Observations on pathological changes in sural nerve biopsies. J Neurol Sci 1977;32:91-122
-
(1977)
J Neurol Sci
, vol.32
, pp. 91-122
-
-
Madrid, R.1
Bradley, W.G.2
Davis, C.J.3
-
18
-
-
0021061363
-
Peroneal muscular atrophy. Part 1. Clinical and electrophysiological study
-
Bouche P, Gherardi R, Cathala HP, et al. Peroneal muscular atrophy. Part 1. Clinical and electrophysiological study. J Neurol Sci 1983;61:389-99
-
(1983)
J Neurol Sci
, vol.61
, pp. 389-399
-
-
Bouche, P.1
Gherardi, R.2
Cathala, H.P.3
-
19
-
-
33745250497
-
Intermediate forms of Charcot-Marie-Tooth neuropathy: A review
-
Nicholson G, Myers S. Intermediate forms of Charcot-Marie-Tooth neuropathy: A review. Neuromolecular Med 2006;8:123-30
-
(2006)
Neuromolecular Med
, vol.8
, pp. 123-130
-
-
Nicholson, G.1
Myers, S.2
-
20
-
-
0035231837
-
Ultrastructural findings in the peripheral nerve in a family with the intermediate form of Charcot- Marie-Tooth disease
-
Malandrini A, Ceuterick C, Villanov M, et al. Ultrastructural findings in the peripheral nerve in a family with the intermediate form of Charcot- Marie-Tooth disease. J Submicrosc Cytol Pathol 2001;33:59-63
-
(2001)
J Submicrosc Cytol Pathol
, vol.33
, pp. 59-63
-
-
Malandrini, A.1
Ceuterick, C.2
Villanov, M.3
-
21
-
-
67650066361
-
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy
-
Claeys KG, Zuchner S, Kennerson M, et al. Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. Brain 2009; 132:1741-52
-
(2009)
Brain
, vol.132
, pp. 1741-1752
-
-
Claeys, K.G.1
Zuchner, S.2
Kennerson, M.3
-
22
-
-
0037370916
-
Mutations in the gangliosideinduced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy
-
Senderek J, Bergmann C, Ramaekers VT, et al. Mutations in the gangliosideinduced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. Brain 2003; 126:642-49
-
(2003)
Brain
, vol.126
, pp. 642-649
-
-
Senderek, J.1
Bergmann, C.2
Ramaekers, V.T.3
-
23
-
-
33745243384
-
Neuropathology of Charcot-Marie-Tooth and related disorders
-
Schro?der JM. Neuropathology of Charcot-Marie-Tooth and related disorders. Neuromolecular Med 2006;8:23-42
-
(2006)
Neuromolecular Med
, vol.8
, pp. 23-42
-
-
Schroder, J.M.1
-
25
-
-
0037178706
-
Role of formins in actin assembly: Nucleation and barbed-end association
-
Pruyne D, Evangelista M, Yang C, et al. Role of formins in actin assembly: Nucleation and barbed-end association. Science 2002;297: 612-15
-
(2002)
Science
, vol.297
, pp. 612-615
-
-
Pruyne, D.1
Evangelista, M.2
Yang, C.3
-
26
-
-
78650666890
-
Formin INF2 regulates MAL-mediated transport of Lck to the plasma membrane of human T lymphocytes
-
Andres-Delgado L, Anton OM, Madrid R, et al. Formin INF2 regulates MAL-mediated transport of Lck to the plasma membrane of human T lymphocytes. Blood 2010;116:5919-29
-
(2010)
Blood
, vol.116
, pp. 5919-5929
-
-
Andres-Delgado, L.1
Anton, O.M.2
Madrid, R.3
-
27
-
-
67749135871
-
Review of the mechanism of processive actin filament elongation by formins
-
Paul AS, Pollard TD. Review of the mechanism of processive actin filament elongation by formins. Cell Motil Cytoskeleton 2009;66:606-17
-
(2009)
Cell Motil Cytoskeleton
, vol.66
, pp. 606-617
-
-
Paul, A.S.1
Pollard, T.D.2
-
28
-
-
44349179335
-
Filopodia: Molecular architecture and cellular functions
-
Mattila PK, Lappalainen P. Filopodia: Molecular architecture and cellular functions. Nat Rev Mol Cell Biol 2008;9:446-54
-
(2008)
Nat Rev Mol Cell Biol
, vol.9
, pp. 446-454
-
-
Mattila, P.K.1
Lappalainen, P.2
-
29
-
-
77649271537
-
The role of formins in filopodia formation
-
Mellor H. The role of formins in filopodia formation. Biochim Biophys Acta 2010;1803:191-200
-
(2010)
Biochim Biophys Acta
, vol.1803
, pp. 191-200
-
-
Mellor, H.1
-
30
-
-
79952583966
-
Rho activation of mDia formins is modulated by an interaction with inverted formin 2 (INF2)
-
Sun H, Schlondorff JS, Brown EJ, et al. Rho activation of mDia formins is modulated by an interaction with inverted formin 2 (INF2). Proc Natl Acad Sci US A 2011;108:2933-38
-
(2011)
Proc Natl Acad Sci US A
, vol.108
, pp. 2933-2938
-
-
Sun, H.1
Schlondorff, J.S.2
Brown, E.J.3
-
31
-
-
77952903622
-
The formin INF2 regulates basolateral-to-apical transcytosis and lumen formation in association with Cdc42 and MAL2
-
Madrid R, Aranda JF, Rodriguez-Fraticelli AE, et al. The formin INF2 regulates basolateral-to-apical transcytosis and lumen formation in association with Cdc42 and MAL2. Developmental cell 2010;18:814-27
-
(2010)
Developmental Cell
, vol.18
, pp. 814-827
-
-
Madrid, R.1
Aranda, J.F.2
Rodriguez-Fraticelli, A.E.3
-
32
-
-
37249003725
-
Novel roles of formin mDia2 in lamellipodia and filopodia formation in motile cells
-
Yang C, Czech L, Gerboth S, et al. Novel roles of formin mDia2 in lamellipodia and filopodia formation in motile cells. PLoS Biol 2007; 5:e317
-
(2007)
PLoS Biol
, vol.5
-
-
Yang, C.1
Czech, L.2
Gerboth, S.3
-
33
-
-
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, et al. 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; 66:569-74
-
(1999)
J Neurol Neurosurg Psychiatry
, vol.66
, pp. 569-574
-
-
Gabreels-Festen, A.1
Van Beersum, S.2
Eshuis, L.3
-
34
-
-
33745994264
-
A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes
-
Gooding R, Colomer J, King R, et al. 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
-
35
-
-
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, et al. The phenotype of Charcot- Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy. Neuromuscul Disord 2009; 19:264-69
-
(2009)
Neuromuscul Disord
, vol.19
, pp. 264-269
-
-
Houlden, H.1
Laura, M.2
Ginsberg, L.3
-
36
-
-
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, et al. 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;73:1106-19
-
(2003)
Am J Hum Genet
, vol.73
, pp. 1106-1119
-
-
Senderek, J.1
Bergmann, C.2
Stendel, C.3
-
37
-
-
84855418340
-
Processing of nerve biopsies: A practical guide for neuropathologists
-
Weis J, Brandner S, Lammens M, et al. Processing of nerve biopsies: A practical guide for neuropathologists. Clin Neuropathol 2012;31:7-23
-
(2012)
Clin Neuropathol
, vol.31
, pp. 7-23
-
-
Weis, J.1
Brandner, S.2
Lammens, M.3
-
39
-
-
70350465107
-
SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system
-
Arnaud E, Zenker J, de Preux Charles AS, et al. SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system. Proc Natl Acad Sci US A 2009;106:17528-33
-
(2009)
Proc Natl Acad Sci US A
, vol.106
, pp. 17528-17533
-
-
Arnaud, E.1
Zenker, J.2
De Preux Charles, A.S.3
-
40
-
-
77957026995
-
SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling
-
Stendel C, Roos A, Kleine H, et al. SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling. Brain 2010;133:2462-74
-
(2010)
Brain
, vol.133
, pp. 2462-2474
-
-
Stendel, C.1
Roos, A.2
Kleine, H.3
-
41
-
-
33748745132
-
INF2 Is a WASP homology 2 motif-containing formin that severs actin filaments and accelerates both polymerization and depolymerization
-
Chhabra ES, Higgs HN. INF2 Is a WASP homology 2 motif-containing formin that severs actin filaments and accelerates both polymerization and depolymerization. J Biol Chem 2006;281:26754-67
-
(2006)
J Biol Chem
, vol.281
, pp. 26754-26767
-
-
Chhabra, E.S.1
Higgs, H.N.2
-
42
-
-
84878733723
-
Inverted formin 2 regulates actin dynamics by antagonizing rho/diaphanous-related formin signaling
-
Sun H, Schlondorff J, Higgs HN, et al. Inverted Formin 2 Regulates Actin Dynamics by Antagonizing Rho/Diaphanous-related Formin Signaling. J Am Soc Nephrol 2013;24:917-29
-
(2013)
J Am Soc Nephrol
, vol.24
, pp. 917-929
-
-
Sun, H.1
Schlondorff, J.2
Higgs, H.N.3
-
43
-
-
0031031007
-
Actin plays a role in both changes in cell shape and gene-expression associated with Schwann cell myelination
-
Fernandez-Valle C, Gorman D, Gomez AM, et al. Actin plays a role in both changes in cell shape and gene-expression associated with Schwann cell myelination. J Neurosci 1997;17:241-50
-
(1997)
J Neurosci
, vol.17
, pp. 241-250
-
-
Fernandez-Valle, C.1
Gorman, D.2
Gomez, A.M.3
-
44
-
-
61549106017
-
The function of RhoGTPases in axon ensheathment and myelination
-
Feltri ML, Suter U, Relvas JB. The function of RhoGTPases in axon ensheathment and myelination. Glia 2008;56:1508-17
-
(2008)
Glia
, vol.56
, pp. 1508-1517
-
-
Feltri, M.L.1
Suter, U.2
Relvas, J.B.3
-
45
-
-
84859544328
-
The actin-severing protein cofilin is downstream of neuregulin signaling and is essential for Schwann cell myelination
-
Sparrow N, Manetti ME, Bott M, et al. The actin-severing protein cofilin is downstream of neuregulin signaling and is essential for Schwann cell myelination. J Neurosci 2012;32:5284-97
-
(2012)
J Neurosci
, vol.32
, pp. 5284-5297
-
-
Sparrow, N.1
Manetti, M.E.2
Bott, M.3
-
46
-
-
0015007417
-
The geometry of peripheral myelin sheaths during their formation and growth in rat sciatic nerves
-
Webster HD. The geometry of peripheral myelin sheaths during their formation and growth in rat sciatic nerves. J Cell Biol 1971;48:348-67
-
(1971)
J Cell Biol
, vol.48
, pp. 348-367
-
-
Webster, H.D.1
-
47
-
-
52249105804
-
Myosin II has distinct functions in PNS and CNS myelin sheath formation
-
Wang H, Tewari A, Einheber S, et al. Myosin II has distinct functions in PNS and CNS myelin sheath formation. J Cell Biol 2008;182:1171-84
-
(2008)
J Cell Biol
, vol.182
, pp. 1171-1184
-
-
Wang, H.1
Tewari, A.2
Einheber, S.3
-
48
-
-
79955159546
-
N-WASp is required for Schwann cell cytoskeletal dynamics, normal myelin gene expression and peripheral nerve myelination
-
Jin F, Dong B, GeorgiouJ, et al. N-WASp is required for Schwann cell cytoskeletal dynamics, normal myelin gene expression and peripheral nerve myelination. Development 2011;138:1329-37
-
(2011)
Development
, vol.138
, pp. 1329-1337
-
-
Jin, F.1
Dong, B.2
Georgiou, J.3
-
49
-
-
33750681355
-
The polarity protein Par-3 directly interacts with p75NTR to regulate myelination
-
Chan JR, Jolicoeur C, Yamauchi J, et al. The polarity protein Par-3 directly interacts with p75NTR to regulate myelination. Science 2006; 314:832-36
-
(2006)
Science
, vol.314
, pp. 832-836
-
-
Chan, J.R.1
Jolicoeur, C.2
Yamauchi, J.3
-
50
-
-
56249139409
-
Polarity proteins in glial cell functions
-
Etienne-Manneville S. Polarity proteins in glial cell functions. Curr Opin Neurobiol 2008;18:488-94
-
(2008)
Curr Opin Neurobiol
, vol.18
, pp. 488-494
-
-
Etienne-Manneville, S.1
-
51
-
-
77949755601
-
Pals1 is a major regulator of the epithelial-like polarization and the extension of the myelin sheath in peripheral nerves
-
Ozcelik M, Cotter L, Jacob C, et al. Pals1 is a major regulator of the epithelial-like polarization and the extension of the myelin sheath in peripheral nerves. J Neurosci 2010;30:4120-31
-
(2010)
J Neurosci
, vol.30
, pp. 4120-4131
-
-
Ozcelik, M.1
Cotter, L.2
Jacob, C.3
-
52
-
-
73549111096
-
Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations
-
Calvo J, Funalot B, Ouvrier RA, et al. Genotype-phenotype correlations in Charcot-Marie-Tooth disease type 2 caused by mitofusin 2 mutations. Arch Neurol 2009;66:1511-16
-
(2009)
Arch Neurol
, vol.66
, pp. 1511-1516
-
-
Calvo, J.1
Funalot, B.2
Ouvrier, R.A.3
|