-
1
-
-
60749123443
-
Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: Nonsense mutation probably causes a recessive phenotype
-
Abe A, Numakura C, Saito K, Koide H, Oka N, Honma A, Kishikawa Y, Hayasaka K (2009). Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease: nonsense mutation probably causes a recessive phenotype. J Hum Genet 54:94-97.
-
(2009)
J Hum Genet
, vol.54
, pp. 94-97
-
-
Abe, A.1
Numakura, C.2
Saito, K.3
Koide, H.4
Oka, N.5
Honma, A.6
Kishikawa, Y.7
Hayasaka, K.8
-
2
-
-
78649499354
-
Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1
-
Abe A, Nakamura K, Kato M, Numakura C, Honma T, Seiwa C, Shirahata E, Itoh A, Kishikawa Y, Hayasaka K (2010). Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1. J Hum Genet 55:771-773.
-
(2010)
J Hum Genet
, vol.55
, pp. 771-773
-
-
Abe, A.1
Nakamura, K.2
Kato, M.3
Numakura, C.4
Honma, T.5
Seiwa, C.6
Shirahata, E.7
Itoh, A.8
Kishikawa, Y.9
Hayasaka, K.10
-
3
-
-
51449088004
-
Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype
-
Al-Thihli K, Rudkin T, Carson N, Poulin C, Melancon S, Der Kaloustian VM (2008). Compound heterozygous deletions of PMP22 causing severe Charcot-Marie-Tooth disease of the Dejerine-Sottas disease phenotype. Am J Med Genet A 146A:2412-2416.
-
(2008)
Am J Med Genet A
, vol.146 A
, pp. 2412-2416
-
-
Al-Thihli, K.1
Rudkin, T.2
Carson, N.3
Poulin, C.4
Melancon, S.5
Der Kaloustian, V.M.6
-
4
-
-
0141956367
-
Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease
-
DOI 10.1016/S0960-8966(03)00093-2
-
Ammar N, Nelis E, Merlini L, Barisic N, Amouri R, Ceuterick C, Martin JJ, Timmerman V, Hentati F, De Jonghe P (2003). Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease. Neuromuscul Disord 13:720-728. (Pubitemid 37249489)
-
(2003)
Neuromuscular Disorders
, vol.13
, Issue.9
, pp. 720-728
-
-
Ammar, N.1
Nelis, E.2
Merlini, L.3
Barisic, N.4
Amouri, R.5
Ceuterick, C.6
Martin, J.-J.7
Timmerman, V.8
Hentati, F.9
De Jonghe, P.10
-
5
-
-
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, Stendel C, Roos A, Medard JJ, Tricaud N, Kleine H, Luscher B, Weis J, Suter U, Senderek J, Chrast R (2009). 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 U S A 106:17528-17533.
-
(2009)
Proc Natl Acad Sci U S A
, 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
-
6
-
-
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
-
DOI 10.1086/375034
-
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 (2003). 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 72:1141-1153. (Pubitemid 36530002)
-
(2003)
American Journal of Human Genetics
, vol.72
, Issue.5
, pp. 1141-1153
-
-
Azzedine, H.1
Bolino, A.2
Taieb, T.3
Birouk, N.4
Di, D.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
-
7
-
-
33748309354
-
Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations
-
DOI 10.1212/01.wnl.0000230225.19797.93, PII 0000611420060822000017
-
Azzedine H, Ravise N, Verny C, Gabreels-Festen A, Lammens M, Grid D, Vallat JM, 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 (2006). Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. Neurology 67:602-606. (Pubitemid 44321436)
-
(2006)
Neurology
, vol.67
, Issue.4
, 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..
-
8
-
-
84859382267
-
Charcot-Marie-Tooth neuropathy type 4C
-
updated July 6, Pagon R, Bird T, Dolan C, Stephens K (Eds). University of Washington, Seattle, Available at
-
Azzedine H, Bontoux L, LeGuern E (updated July 6, 2010). Charcot-Marie-Tooth neuropathy type 4C. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online)., Pagon R, Bird T, Dolan C, Stephens K (Eds). University of Washington, Seattle, pp 1997-2011. Available at http://www.genetests.org.
-
(2010)
GeneReviews at GeneTests: Medical Genetics Information Resource (Database Online)
, pp. 1997-2011
-
-
Azzedine, H.1
Bontoux, L.2
LeGuern, E.3
-
9
-
-
80052927465
-
Genetic spectrum of hereditary neuropathies with onset in the first year of life
-
Baets J, Deconinck T, De Vriendt E, Zimon M, Yperzeele L, Van Hoorenbeeck K, Peeters K, Spiegel R, Parman Y, Ceulemans B, Van Bogaert P, Pou-Serradell A, Bernert G, Dinopoulos A, Auer-Grumbach M, Sallinen SL, Fabrizi GM, Pauly F, Van den Bergh P, Bilir B, Battaloglu E, Madrid RE, Kabzinska D, Kochanski A, Topaloglu H, Miller G, Jordanova A, Timmerman V, De Jonghe P (2011). Genetic spectrum of hereditary neuropathies with onset in the first year of life. Brain 134:2664-2676.
-
(2011)
Brain
, vol.134
, pp. 2664-2676
-
-
Baets, J.1
Deconinck, T.2
De Vriendt, E.3
Zimon, M.4
Yperzeele, L.5
Van Hoorenbeeck, K.6
Peeters, K.7
Spiegel, R.8
Parman, Y.9
Ceulemans, B.10
Van Bogaert, P.11
Pou-Serradell, A.12
Bernert, G.13
Dinopoulos, A.14
Auer-Grumbach, M.15
Sallinen, S.L.16
Fabrizi, G.M.17
Pauly, F.18
Van Den Bergh, P.19
Bilir, B.20
Battaloglu, E.21
Madrid, R.E.22
Kabzinska, D.23
Kochanski, A.24
Topaloglu, H.25
Miller, G.26
Jordanova, A.27
Timmerman, V.28
De Jonghe, P.29
more..
-
10
-
-
18544385024
-
Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
-
Baxter RV, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Ben Hamida M, Bel S, Stenger JE, Gilbert JR, Pericak-Vance MA, Vance JM(2002). Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet 30:21-22.
-
(2002)
Nat Genet
, vol.30
, pp. 21-22
-
-
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
-
11
-
-
0025294738
-
The electrophysiologic profile of Dejerine-Sottas disease (HMSN III)
-
DOI 10.1002/mus.880130705
-
Benstead TJ, Kuntz NL, Miller RG, Daube JR (1990). The electrophysiologic profile of Dejerine-Sottas disease (HMSN II). Muscle Nerve 13:586-592. (Pubitemid 20213896)
-
(1990)
Muscle and Nerve
, vol.13
, Issue.7
, pp. 586-592
-
-
Benstead, T.J.1
Kuntz, N.L.2
Miller, R.G.3
Daube, J.R.4
-
12
-
-
32144452023
-
Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2
-
DOI 10.1093/hmg/ddi473
-
Berger P, Berger I, Schaffitzel C, Tersar K, Volkmer B, Suter U (2006). Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2. Hum Mol Genet 15:569-579. (Pubitemid 43205422)
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.4
, pp. 569-579
-
-
Berger, P.1
Berger, I.2
Schaffitzel, C.3
Tersar, K.4
Volkmer, B.5
Suter, U.6
-
13
-
-
0027772413
-
Connexin mutations in X-linked Charcot-Marie-Tooth disease
-
Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DL, Chen K, Lensch MW, Chance PF, Fischbeck KH (1993). Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 262:2039-2042. (Pubitemid 24041884)
-
(1993)
Science
, vol.262
, Issue.5142
, pp. 2039-2042
-
-
Bergoffen, J.1
Scherer, S.S.2
Wang, S.3
Oronzi, S.M.4
Bone, L.J.5
Paul, D.L.6
Chen, K.7
Lensch, M.W.8
Chance, P.F.9
Fischbeck, K.H.10
-
14
-
-
35148883885
-
Phenotypic characterization of hypomyelination and congenital cataract
-
DOI 10.1002/ana.21175
-
Biancheri R, Zara F, Bruno C, Rossi A, Bordo L, Gazzerro E, Sotgia F, Pedemonte M, Scapolan S, Bado M, Uziel G, Bugiani M, Lamba LD, Costa V, Schenone A, Rozemuller AJ, Tortori-Donati P, Lisanti MP, van der Knaap MS, Minetti C (2007). Phenotypic characterization of hypomyelination and congenital cataract. Ann Neurol 62:121-127. (Pubitemid 47546497)
-
(2007)
Annals of Neurology
, vol.62
, Issue.2
, pp. 121-127
-
-
Biancheri, R.1
Zara, F.2
Bruno, C.3
Rossi, A.4
Bordo, L.5
Gazzerro, E.6
Sotgia, F.7
Pedemonte, M.8
Scapolan, S.9
Bado, M.10
Uziel, G.11
Bugiani, M.12
Lamba, L.D.13
Costa, V.14
Schenone, A.15
Rozemuller, A.J.M.16
Tortori-Donati, P.17
Lisanti, M.P.18
Van Der, K.M.S.19
Minetti, C.20
more..
-
15
-
-
0030993366
-
Clinical and pathological phenotype of the original family with Charcot- Marie-Tooth type 1B: A 20-year study
-
DOI 10.1002/ana.410410409
-
Bird TD, Kraft GH, Lipe HP, Kenney KL, Sumi SM(1997). Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: a 20-year study. Ann Neurol 41:463-469. (Pubitemid 27169185)
-
(1997)
Annals of Neurology
, vol.41
, Issue.4
, pp. 463-469
-
-
Bird, T.D.1
Kraft, G.H.2
Lipe, H.P.3
Kenney, K.L.4
Sumi, S.M.5
-
16
-
-
0031901040
-
X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: Clinical and electrophysiologic study
-
Birouk N, LeGuern E, Maisonobe T, Rouger H, Gouider R, Tardieu S, Gugenheim M, Routon MC, Leger JM, Agid Y, Brice A, Bouche P (1998). X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study. Neurology 50:1074-1082. (Pubitemid 28212840)
-
(1998)
Neurology
, vol.50
, Issue.4
, pp. 1074-1082
-
-
Birouk, N.1
LeGuern, E.2
Maisonobe, T.3
Rouger, H.4
Gouider, R.5
Tardieu, S.6
Gugenheim, M.7
Routon, M.C.8
Leger, J.M.9
Agid, Y.10
Brice, A.11
Bouche, P.12
-
17
-
-
0345316694
-
Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene
-
DOI 10.1001/archneur.60.4.598
-
Birouk N, Azzedine H, Dubourg O, Muriel MP, Benomar A, Hamadouche T, Maisonobe T, Ouazzani R, Brice A, Yahyaoui M, Chkili T, Le Guern E (2003). Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene. Arch Neurol 60:598-604. (Pubitemid 36427975)
-
(2003)
Archives of Neurology
, vol.60
, Issue.4
, pp. 598-604
-
-
Birouk, N.1
Azzedine, H.2
Dubourg, O.3
Muriel, M.-P.4
Benomar, A.5
Hamadouche, T.6
Maisonobe, T.7
Ouazzani, R.8
Brice, A.9
Yahyaoui, M.10
Chkili, T.11
Le, G.E.12
-
18
-
-
0035406339
-
EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy
-
DOI 10.1007/s100480100107
-
Boerkoel CF, Takashima H, Bacino CA, Daentl D, Lupski JR (2001a). EGR2 mutation R359W causes a spectrum of Dejerine-Sottas neuropathy. Neurogenetics 3:153-157. (Pubitemid 33739054)
-
(2001)
Neurogenetics
, vol.3
, Issue.3
, pp. 153-157
-
-
Boerkoel, C.F.1
Takashima, H.2
Bacino, C.A.3
Daentl, D.4
Lupski, J.R.5
-
19
-
-
0035121784
-
Periaxin mutations cause recessive Dejerine-Sottas neuropathy
-
DOI 10.1086/318208
-
Boerkoel CF, Takashima H, Stankiewicz P, Garcia CA, Leber SM, Rhee-Morris L, Lupski JR (2001b). Periaxin mutations cause recessive Dejerine-Sottas neuropathy. Am J Hum Genet 68:325-333. (Pubitemid 32147803)
-
(2001)
American Journal of Human Genetics
, vol.68
, Issue.2
, 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
-
20
-
-
0036157054
-
Charcot-Marie-Tooth disease and related neuropathies: Mutation distribution and genotype-phenotype correlation
-
DOI 10.1002/ana.10089
-
Boerkoel CF, Takashima H, Garcia CA, Olney RK, Johnson J, Berry K, Russo P, Kennedy S, Teebi AS, Scavina M, Williams LL, Mancias P, Butler IJ, Krajewski K, Shy M, Lupski JR (2002). Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann Neurol 51:190-201. (Pubitemid 34111441)
-
(2002)
Annals of Neurology
, vol.51
, Issue.2
, pp. 190-201
-
-
Boerkoel, C.F.1
Takashima, H.2
Garcia, C.A.3
Olney, R.K.4
Johnson, J.5
Berry, K.6
Russo, P.7
Kennedy, S.8
Teebi, A.S.9
Scavina, M.10
Williams, L.L.11
Mancias, P.12
Butler, I.J.13
Krajewski, K.14
Shy, M.15
Lupski, J.R.16
-
21
-
-
0037371253
-
CMT4A: Identification of a hispanic GDAP1 founder mutation
-
DOI 10.1002/ana.10505
-
Boerkoel CF, Takashima H, Nakagawa M, Izumo S, Armstrong D, Butler I, Mancias P, Papasozomenos SC, Stern LZ, Lupski JR (2003). CMT4A: identification of a Hispanic GDAP1 founder mutation. Ann Neurol 53:400-405. (Pubitemid 36258646)
-
(2003)
Annals of Neurology
, vol.53
, Issue.3
, pp. 400-405
-
-
Boerkoel, C.F.1
Takashima, H.2
Nakagawa, M.3
Izumo, S.4
Armstrong, D.5
Butler, I.6
Mancias, P.7
Papasozomenos, S.C.H.8
Stern, L.Z.9
Lupski, J.R.10
-
22
-
-
0035290654
-
Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy
-
DOI 10.1007/s100480000101
-
Bolino A, Lonie LJ, Zimmer M, Boerkoel CF, Takashima H, Monaco AP, Lupski JR (2001). Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy. Neurogenetics 3:107-109. (Pubitemid 33738401)
-
(2001)
Neurogenetics
, vol.3
, Issue.2
, pp. 107-109
-
-
Bolino, A.1
Lonie, L.J.2
Zimmer, M.3
Boerkoel, C.F.4
Takashima, H.5
Monaco, A.P.6
Lupski, J.R.7
-
23
-
-
9444266440
-
Disruption of Mtmr2 CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis
-
DOI 10.1083/jcb.200407010
-
Bolino A, Bolis A, Previtali SC, Dina G, Bussini S, Dati G, Amadio S, Del Carro U, Mruk DD, Feltri ML, Cheng CY, Quattrini A, Wrabetz L (2004). Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis. J Cell Biol 167:711-721. (Pubitemid 39565151)
-
(2004)
Journal of Cell Biology
, vol.167
, Issue.4
, pp. 711-721
-
-
Bolino, A.1
Bolis, A.2
Previtali, S.C.3
Dina, G.4
Bussini, S.5
Dati, G.6
Amadio, S.7
Del, C.U.8
Mruk, D.D.9
Feltri, M.L.10
Cheng, C.Y.11
Quattrini, A.12
Wrabetz, L.13
-
24
-
-
36248956630
-
Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system
-
DOI 10.1007/s12035-007-0031-0
-
Bolis A, Zordan P, Coviello S, Bolino A (2007). Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system. Mol Neurobiol 35:308-316. (Pubitemid 350129692)
-
(2007)
Molecular Neurobiology
, vol.35
, Issue.3
, pp. 308-316
-
-
Bolis, A.1
Zordan, P.2
Coviello, S.3
Bolino, A.4
-
25
-
-
0026544673
-
Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita
-
Boylan KB, Ferriero DM, Greco CM, Sheldon RA, Dew M (1992). Congenital hypomyelination neuropathy with arthrogryposis multiplex congenita. Ann Neurol 31:337-340.
-
(1992)
Ann Neurol
, vol.31
, pp. 337-340
-
-
Boylan, K.B.1
Ferriero, D.M.2
Greco, C.M.3
Sheldon, R.A.4
Dew, M.5
-
26
-
-
77953042826
-
Adult onset Charcot-Marie-Tooth disease type 1D with an Arg381Cys mutation of EGR2
-
Briani C, Taioli F, Lucchetta M, Bombardi R, Fabrizi GM (2010). Adult onset Charcot-Marie-Tooth disease type 1D with an Arg381Cys mutation of EGR2. Muscle Nerve 41:888-889.
-
(2010)
Muscle Nerve
, vol.41
, pp. 888-889
-
-
Briani, C.1
Taioli, F.2
Lucchetta, M.3
Bombardi, R.4
Fabrizi, G.M.5
-
27
-
-
0035182190
-
The transcription factor Sox10 is a key regulator of peripheral glial development
-
DOI 10.1101/gad.186601
-
Britsch S, Goerich DE, Riethmacher D, Peirano RI, Rossner M, Nave KA, Birchmeier C, Wegner M (2001). The transcription factor Sox10 is a key regulator of peripheral glial development. Genes Dev 15:66-78. (Pubitemid 32060683)
-
(2001)
Genes and Development
, vol.15
, Issue.1
, pp. 66-78
-
-
Britsch, S.1
Goerich, D.E.2
Riethmacher, D.3
Peirano, R.I.4
Rossner, M.5
Nave, K.-A.6
Birchmeier, C.7
Wegner, M.8
-
28
-
-
0036849511
-
Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport
-
Brownlees J, Ackerley S, Grierson AJ, Jacobsen NJ, Shea K, Anderton BH, Leigh PN, Shaw CE, Miller CC (2002). Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport. Hum Mol Genet 11:2837-2844. (Pubitemid 35331816)
-
(2002)
Human Molecular Genetics
, vol.11
, Issue.23
, pp. 2837-2844
-
-
Brownlees, J.1
Ackerley, S.2
Grierson, A.J.3
Jacobsen, N.J.O.4
Shea, K.5
Anderton, B.H.6
Leigh, P.N.7
Shaw, C.E.8
Miller, C.C.J.9
-
29
-
-
33747039269
-
GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy
-
Bugiani M (2006). GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy. Neurology 67:273-279.
-
(2006)
Neurology
, vol.67
, pp. 273-279
-
-
Bugiani, M.1
-
30
-
-
0038648799
-
Current therapeutic strategies for patients with polyneuropathies secondary to inherited metabolic disorders
-
Burns TM, Ryan MM, Darras B, Jones HR Jr (2003). Current therapeutic strategies for patients with polyneuropathies secondary to inherited metabolic disorders. Mayo Clin Proc 78:858-868. (Pubitemid 36759295)
-
(2003)
Mayo Clinic Proceedings
, vol.78
, Issue.7
, pp. 858-868
-
-
Burns, T.M.1
Ryan, M.M.2
Darras, B.3
Jones Jr., H.R.4
-
31
-
-
1842530150
-
Multifocal slowing of nerve conduction in metachromatic leukodystrophy
-
DOI 10.1002/mus.10569
-
Cameron CL, Kang PB, Burns TM, Darras BT, Jones HR Jr (2004). Multifocal slowing of nerve conduction in metachromatic leukodystrophy. Muscle Nerve 29:531-536. (Pubitemid 38451344)
-
(2004)
Muscle and Nerve
, vol.29
, Issue.4
, pp. 531-536
-
-
Cameron, C.L.1
Kang, P.B.2
Burns, T.M.3
Darras, B.T.4
Jones Jr., H.R.5
-
32
-
-
0027509953
-
DNA deletion associated with hereditary neuropathy with liability to pressure palsies
-
DOI 10.1016/0092-8674(93)90058-X
-
Chance PF, Alderson MK, Leppig KA, Lensch MW, Matsunami N, Smith B, Swanson PD,Odelberg SJ, Disteche CM, Bird TD (1993). DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72:143-151. (Pubitemid 23029701)
-
(1993)
Cell
, vol.72
, Issue.1
, pp. 143-151
-
-
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
-
33
-
-
0023944411
-
Congenital absence of peripheral myelin: Abnormal Schwann cell development causes lethal arthrogryposis multiplex congenita
-
Charnas L, Trapp B, Griffin J (1988). Congenital absence of peripheral myelin: abnormal Schwann cell development causes lethal arthrogryposis multiplex congenita. Neurology 38:966-974.
-
(1988)
Neurology
, vol.38
, pp. 966-974
-
-
Charnas, L.1
Trapp, B.2
Griffin, J.3
-
34
-
-
34447133038
-
Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J
-
DOI 10.1038/nature05876, PII NATURE05876
-
Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K, Shy ME, Li J, Zhang X, Lupski JR, Weisman LS, Meisler MH (2007). Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Nature 448:68-72. (Pubitemid 47036999)
-
(2007)
Nature
, vol.448
, Issue.7149
, 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
-
35
-
-
25844437472
-
Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family
-
DOI 10.1007/s10048-005-0217-4
-
Chung KW, Sunwoo IN, Kim SM, Park KD, Kim WK, Kim TS, Koo H, Cho M, Lee J, Choi BO (2005). Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family. Neurogenetics 6:159-163. (Pubitemid 41396992)
-
(2005)
Neurogenetics
, vol.6
, Issue.3
, pp. 159-163
-
-
Chung, K.W.1
Sunwoo, I.N.2
Kim, S.M.3
Park, K.D.4
Kim, W.-K.5
Kim, T.S.6
Koo, H.7
Cho, M.8
Lee, J.9
Choi, B.O.10
-
36
-
-
20244374986
-
Genetics of Charcot-Marie-Tooth disease type 4A: Mutations, inheritance, phenotypic variability, and founder effect
-
DOI 10.1136/jmg.2004.022178
-
Claramunt R, Pedrola L, Sevilla T, Lopez de Munain A, Berciano J, Cuesta A, Sanchez-Navarro B, Millan JM, Saifi GM, Lupski Vilchez JJ Jr, Espinos C, Palau F (2005). Genetics of Charcot-Marie-Tooth disease type 4A:mutations, inheritance, phenotypic variability, and founder effect. J Med Genet 42:358-365. (Pubitemid 40523959)
-
(2005)
Journal of Medical Genetics
, vol.42
, Issue.4
, pp. 358-365
-
-
Claramunt, R.1
Pedrola, L.2
Sevilla, T.3
Lopez, D.M.A.4
Berciano, J.5
Cuesta, A.6
Sanchez-Navarro, B.7
Millan, J.M.8
Saifi, G.M.9
Lupski, J.R.10
Vilchez, J.J.11
Espinos, C.12
Palau, F.13
-
37
-
-
0034523142
-
PMP22 carrying the trembler or trembler-J mutation is intracellularly retained in myelinating Schwann cells
-
DOI 10.1006/nbdi.2000.0323
-
Colby J, Nicholson R, Dickson KM, Orfali W, Naef R, Suter U, Snipes GJ (2000). PMP22 carrying the trembler or trembler-J mutation is intracellularly retained in myelinating Schwann cells. Neurobiol Dis 7:561-573. (Pubitemid 32044282)
-
(2000)
Neurobiology of Disease
, vol.7
, Issue.6
, pp. 561-573
-
-
Colby, J.1
Nicholson, R.2
Dickson, K.M.3
Orfali, W.4
Naef, R.5
Suter, U.6
Snipes, G.J.7
-
38
-
-
33746222068
-
Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2
-
DOI 10.1016/j.nmd.2006.05.005, PII S0960896606001519
-
Colomer J, Gooding R, Angelicheva D, King RH, Guillen-Navarro E, Parman Y, Nascimento A, Conill J, Kalaydjieva L (2006). Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2. Neuromuscul Disord 16:449-453. (Pubitemid 44094101)
-
(2006)
Neuromuscular Disorders
, vol.16
, Issue.7
, pp. 449-453
-
-
Colomer, J.1
Gooding, R.2
Angelicheva, D.3
King, R.H.M.4
Guillen-Navarro, E.5
Parman, Y.6
Nascimento, A.7
Conill, J.8
Kalaydjieva, L.9
-
39
-
-
4544327731
-
Restricted growth of Schwann cells lacking Cajal bands slows conduction in myelinated nerves
-
DOI 10.1038/nature02841
-
Court FA, Sherman DL, Pratt T, Garry EM, Ribchester RR, Cottrell DF, Fleetwood-Walker SM, Brophy PJ (2004). Restricted growth of Schwann cells lacking Cajal bands slows conduction in myelinated nerves. Nature 431:191-195. (Pubitemid 39243472)
-
(2004)
Nature
, vol.431
, Issue.7005
, 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
-
40
-
-
0021982118
-
X-linked motor-sensory neuropathy type II with deafness and mental retardation: A new disorder
-
DOI 10.1002/ajmg.1320200214
-
Cowchock FS, Duckett SW, Streletz LJ, Graziani LJ, Jackson LG (1985). X-linked motor-sensory neuropathy type-II with deafness and mental retardation: a new disorder. Am J Med Genet 20:307-315. (Pubitemid 15168286)
-
(1985)
American Journal of Medical Genetics
, vol.20
, Issue.2
, pp. 307-315
-
-
Cowchock, F.S.1
Duckett, S.W.2
Streletz, L.J.3
-
41
-
-
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 MJ, Mayordomo F, LeGuern E,Marin I, Vilchez JJ, Palau F (2002). The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Nat Genet 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
-
42
-
-
0035136847
-
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E
-
DOI 10.1002/1531-8249(20010201)49:2<245::AID-ANA45>3.0.CO;2-A
-
De Jonghe P, Mersivanova I, Nelis E, Del Favero J, Martin JJ, Van Broeckhoven C, Evgrafov O, Timmerman V (2001). Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. Ann Neurol 49:245-249. (Pubitemid 32158001)
-
(2001)
Annals of Neurology
, vol.49
, Issue.2
, pp. 245-249
-
-
De Jonghe, P.1
Mersivanova, I.2
Nelis, E.3
Favero, J.D.4
Martin, J.-J.5
Van Broeckhoven, C.6
Evgrafov, O.7
Timmerman, V.8
-
43
-
-
0042207076
-
Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations
-
De Sandre-Giovannoli A, Chaouch M, Boccaccio I, Bernard R, Delague V, Grid D, Vallat JM, Levy N, Megarbane A (2003). Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations. J Med Genet 40:e87.
-
(2003)
J Med Genet
, vol.40
-
-
De Sandre-Giovannoli, A.1
Chaouch, M.2
Boccaccio, I.3
Bernard, R.4
Delague, V.5
Grid, D.6
Vallat, J.M.7
Levy, N.8
Megarbane, A.9
-
44
-
-
20144377496
-
Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11
-
DOI 10.1136/jmg.2004.024364
-
De Sandre-Giovannoli A,Delague V, Hamadouche T, ChaouchM, Krahn M, Boccaccio I, Maisonobe T, Chouery E, Jabbour R, Atweh S, Grid D, Megarbane A, Levy N (2005). Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11. J Med Genet 42:260-265. (Pubitemid 40380308)
-
(2005)
Journal of Medical Genetics
, vol.42
, Issue.3
, 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
-
46
-
-
0033924959
-
Mapping of a new locus for autosomal recessive demyelinating Charcot- Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: Exclusion of MAG as a candidate gene
-
DOI 10.1086/302980
-
Delague V, Bareil C, Tuffery S, Bouvagnet P, Chouery E, Koussa S, Maisonobe T, Loiselet J, Megarbane A, Claustres M (2000). Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene. Am J Hum Genet 67:236-243. (Pubitemid 30481562)
-
(2000)
American Journal of Human Genetics
, vol.67
, Issue.1
, pp. 236-243
-
-
Delague, V.1
Bareil, C.2
Tuffery, S.3
Bouvagnet, P.4
Chouery, E.5
Koussa, S.6
Maisonobe, T.7
Loiselet, J.8
Megarbane, A.9
Claustres, M.10
-
47
-
-
34347240987
-
Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H
-
DOI 10.1086/518428
-
Delague V, Jacquier A, Hamadouche T, Poitelon Y, Baudot C, Boccaccio I, Chouery E, Chaouch M, Kassouri N, Jabbour R, Grid D, Megarbane A, Haase G, Levy N (2007). Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H. Am J Hum Genet 81:1-16. (Pubitemid 47001152)
-
(2007)
American Journal of Human Genetics
, vol.81
, Issue.1
, pp. 1-16
-
-
Delague, V.1
Jacquier, A.2
Hamadouche, T.3
Poitelon, Y.4
Baudot, C.5
Boccaccio, I.6
Chouery, E.7
Chaouch, M.8
Kassouri, N.9
Jabbour, R.10
Grid, D.11
Megarbane, A.12
Haase, G.13
Levy, N.14
-
48
-
-
0034784158
-
Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease
-
Dubourg O, Tardieu S, Birouk N, Gouider R, Leger JM, Maisonobe T, Brice A, Bouche P, LeGuern E (2001). Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease. Brain 124:1958-1967. (Pubitemid 32945897)
-
(2001)
Brain
, vol.124
, Issue.10
, pp. 1958-1967
-
-
Dubourg, O.1
Tardieu, S.2
Birouk, N.3
Gouider, R.4
Leger, J.M.5
Maisonobe, T.6
Brice, A.7
Bouche, P.8
LeGuern, E.9
-
49
-
-
0014301249
-
Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies
-
Dyck PJ, Lambert EH (1968). Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies. Arch Neurol 18:603-618.
-
(1968)
Arch Neurol
, vol.18
, pp. 603-618
-
-
Dyck, P.J.1
Lambert, E.H.2
-
50
-
-
0032489463
-
Two PDZ domain proteins encoded by the murine periaxin gene are the result of alternative intron retention and are differentially targeted in schwann cells
-
DOI 10.1074/jbc.273.10.5794
-
Dytrych L, Sherman DL, Gillespie CS, Brophy PJ (1998). Two PDZ domain proteins encoded by the murine periaxin gene are the result of alternative intron retention and are differentially targeted in Schwann cells. J Biol Chem 273:5794-5800. (Pubitemid 28124055)
-
(1998)
Journal of Biological Chemistry
, vol.273
, Issue.10
, pp. 5794-5800
-
-
Dytrych, L.1
Sherman, D.L.2
Gillespie, C.S.3
Brophy, P.J.4
-
51
-
-
0032588106
-
0 extracellular domain causes a Dejerine-Sottas syndrome
-
Fabrizi GM, Cavallaro T, Morbin M, Simonati A, Taioli F, Rizzuto N (1999). Novel mutation of the P0 extracellular domain causes a Dejerine-Sottas syndrome. J Neurol Neurosurg Psychiatry 66:386-389. (Pubitemid 29103495)
-
(1999)
Journal of Neurology Neurosurgery and Psychiatry
, vol.66
, Issue.3
, pp. 386-389
-
-
Fabrizi, G.M.1
Cavallaro, T.2
Morbin, M.3
Simonati, A.4
Taioli, F.5
Rizzuto, N.6
-
52
-
-
0035137482
-
PMP22 related congenital hypomyelination neuropathy
-
DOI 10.1136/jnnp.70.1.123
-
Fabrizi GM, Simonati A, Taioli F, Cavallaro T, Ferrarini M, Rigatelli F, Pini A, Mostacciuolo ML, Rizzuto N (2001). PMP22 related congenital hypomyelination neuropathy. J Neurol Neurosurg Psychiatry 70:123-126. (Pubitemid 32096135)
-
(2001)
Journal of Neurology Neurosurgery and Psychiatry
, vol.70
, Issue.1
, pp. 123-126
-
-
Fabrizi, G.M.1
Simonati, A.2
Taioli, F.3
Cavallaro, T.4
Ferrarini, M.5
Rigatelli, F.6
Pini, A.7
Mostacciuolo, M.L.8
Rizzuto, N.9
-
53
-
-
1942473714
-
Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E
-
Fabrizi GM, Cavallaro T, Angiari C, Bertolasi L, Cabrini I, Ferrarini M, Rizzuto N (2004). Giant axon and neurofilament accumulation in Charcot-Marie-Tooth disease type 2E. Neurology 62:1429-1431. (Pubitemid 38526066)
-
(2004)
Neurology
, vol.62
, Issue.8
, pp. 1429-1431
-
-
Fabrizi, G.M.1
Cavallaro, T.2
Angiari, C.3
Bertolasi, L.4
Cabrini, I.5
Ferrarini, M.6
Rizzuto, N.7
-
54
-
-
33846601355
-
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton
-
DOI 10.1093/brain/awl284
-
Fabrizi GM, Cavallaro T, Angiari C, Cabrini I, Taioli F, Malerba G, Bertolasi L, Rizzuto N (2007). Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. Brain 130:394-403. (Pubitemid 46181093)
-
(2007)
Brain
, vol.130
, Issue.2
, pp. 394-403
-
-
Fabrizi, G.M.1
Cavallaro, T.2
Angiari, C.3
Cabrini, I.4
Taioli, F.5
Malerba, G.6
Bertolasi, L.7
Rizzuto, N.8
-
55
-
-
65249157015
-
Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H
-
Fabrizi GM, Taioli F, Cavallaro T, Ferrari S, Bertolasi L, Casarotto M, Rizzuto N, Deconinck T, Timmerman V, De Jonghe P (2009). Further evidence that mutations in FGD4/frabin cause Charcot-Marie-Tooth disease type 4H. Neurology 72:1160-1164.
-
(2009)
Neurology
, vol.72
, pp. 1160-1164
-
-
Fabrizi, G.M.1
Taioli, F.2
Cavallaro, T.3
Ferrari, S.4
Bertolasi, L.5
Casarotto, M.6
Rizzuto, N.7
Deconinck, T.8
Timmerman, V.9
De Jonghe, P.10
-
57
-
-
0036257516
-
Dejerine-Sottas syndrome grown to maturity: Overview of genetic and morphological heterogeneity and follow-up of 25 patients
-
Gabreels-Festen A (2002). Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients. J Anat 200:341-356.
-
(2002)
J Anat
, vol.200
, pp. 341-356
-
-
Gabreels-Festen, A.1
-
58
-
-
0041114444
-
0 mutations in Charcot-Marie-Tooth disease
-
Gabreels-Festen AA, Hoogendijk JE, Meijerink PH, Gabreels FJ, Bolhuis PA, van Beersum S, Kulkens T, Nelis E, Jennekens FG, de Visser M, van Engelen BG, Van Broeckhoven C, Mariman EC (1996). Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease. Neurology 47:761-765. (Pubitemid 26307309)
-
(1996)
Neurology
, vol.47
, Issue.3
, pp. 761-765
-
-
Gabreels-Festen, A.A.W.M.1
Hoogendijk, J.E.2
Meijerink, P.H.S.3
Gabreels, F.J.M.4
Bolhuis, P.A.5
Van Beersum, S.6
Kulkens, T.7
Nelis, E.8
Jennekens, F.G.I.9
De Visser, M.10
Van Engelen, B.G.M.11
Van Broeckhoven, C.12
Mariman, E.C.M.13
-
59
-
-
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 (1999). Study on the gene and phenotypic characterisation of autosomal recessive demyelinatingmotor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33. J Neurol Neurosurg Psychiatry 66:569-574. (Pubitemid 29186960)
-
(1999)
Journal of Neurology Neurosurgery and Psychiatry
, vol.66
, Issue.5
, 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
-
60
-
-
0030769418
-
Proteolipid protein is necessary in peripheral as well as central myelin
-
DOI 10.1016/S0896-6273(00)80360-8
-
Garbern JY, Cambi F, Tang XM, Sima AA, Vallat JM, Bosch EP, Lewis R, Shy M, Sohi J, Kraft G, Chen KL, Joshi I, Leonard DG, Johnson W, Raskind W, Dlouhy SR, Pratt V, Hodes ME, Bird T, Kamholz J (1997). Proteolipid protein is necessary in peripheral as well as central myelin. Neuron 19:205-218. (Pubitemid 27333006)
-
(1997)
Neuron
, vol.19
, Issue.1
, pp. 205-218
-
-
Garbern, J.Y.1
Cambi, F.2
Tang, X.-M.3
Sima, A.A.F.4
Vallat, J.M.5
Bosch, E.P.6
Lewis, R.7
Shy, M.8
Sohi, J.9
Kraft, G.10
Chen, K.L.11
Joshi, I.12
Leonard, D.G.B.13
Johnson, W.14
Raskind, W.15
Dlouhy, S.R.16
Pratt, V.17
Hodes, M.E.18
Bird, T.19
Kamholz, J.20
more..
-
61
-
-
0033681225
-
Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice
-
Gillespie CS, Sherman DL, Fleetwood-Walker SM, Cottrell DF, Tait S, Garry EM, Wallace VC, Ure J, Griffiths IR, Smith A, Brophy PJ (2000). Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice. Neuron 26:523-531.
-
(2000)
Neuron
, vol.26
, pp. 523-531
-
-
Gillespie, C.S.1
Sherman, D.L.2
Fleetwood-Walker, S.M.3
Cottrell, D.F.4
Tait, S.5
Garry, E.M.6
Wallace, V.C.7
Ure, J.8
Griffiths, I.R.9
Smith, A.10
Brophy, P.J.11
-
62
-
-
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 (2005). A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes. J Med Genet 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
-
63
-
-
46149107703
-
Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster
-
DOI 10.1016/j.nmd.2008.04.001, PII S0960896608001016
-
Gosselin I, Thiffault I, Tetreault M, Chau V, Dicaire MJ, Loisel L, Emond M, Senderek J, Mathieu J, Dupre N, Vanasse M, Puymirat J, Brais B (2008). Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster. Neuromuscul Disord 18:483-492. (Pubitemid 351902205)
-
(2008)
Neuromuscular Disorders
, vol.18
, Issue.6
, pp. 483-492
-
-
Gosselin, I.1
Thiffault, I.2
Tetreault, M.3
Chau, V.4
Dicaire, M.-J.5
Loisel, L.6
Emond, M.7
Senderek, J.8
Mathieu, J.9
Dupre, N.10
Vanasse, M.11
Puymirat, J.12
Brais, B.13
-
64
-
-
45749132610
-
Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations
-
DOI 10.1093/hmg/ddn083
-
Grandis M, Vigo T, Passalacqua M, Jain M, Scazzola S, La Padula V, Brucal M, Benvenuto F, Nobbio L, Cadoni A, Mancardi GL, Kamholz J, Shy ME, Schenone A (2008). Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations. Hum Mol Genet 17:1877-1889. (Pubitemid 351865837)
-
(2008)
Human Molecular Genetics
, vol.17
, Issue.13
, pp. 1877-1889
-
-
Grandis, M.1
Vigo, T.2
Passalacqua, M.3
Jain, M.4
Scazzola, S.5
La, P.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
-
65
-
-
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 DL, Brophy PJ, LeGuern E, Delague V, Bareil C, Megarbane A, Claustres M (2001). A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. Hum Mol Genet 10:415-421. (Pubitemid 32166552)
-
(2001)
Human Molecular Genetics
, vol.10
, Issue.4
, 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
-
66
-
-
64049087051
-
Peripheral neuropathy as the sole initial finding in three children with infantile metachromatic leukodystrophy
-
Haberlandt E, Scholl-Burgi S, Neuberger J, Felber S, Gotwald T, Sauter R, Rostasy K, Karall D, Korinthenberg R (2009). Peripheral neuropathy as the sole initial finding in three children with infantile metachromatic leukodystrophy. Eur J Paediatr Neurol 13:257-260.
-
(2009)
Eur J Paediatr Neurol
, vol.13
, pp. 257-260
-
-
Haberlandt, E.1
Scholl-Burgi, S.2
Neuberger, J.3
Felber, S.4
Gotwald, T.5
Sauter, R.6
Rostasy, K.7
Karall, D.8
Korinthenberg, R.9
-
67
-
-
0035145831
-
Pathological findings in the x-linked form of Charcot-Marie-Tooth disease: A morphometric and ultrastructural analysis
-
Hahn AF, Ainsworth PJ, Bolton CF, Bilbao JM, Vallat JM(2001a). Pathological findings in the x-linked form of Charcot-Marie-Tooth disease: a morphometric and ultrastructural analysis. Acta Neuropathol 101:129-139. (Pubitemid 32124484)
-
(2001)
Acta Neuropathologica
, vol.101
, Issue.2
, pp. 129-139
-
-
Hahn, A.F.1
Ainsworth, P.J.2
Bolton, C.F.3
Bilbao, J.M.4
Vallat, J.-M.5
-
68
-
-
19244386839
-
Congenital hypomyelination neuropathy in a newborn infant: Unusual cause of diaphragmatic and vocal cord paralyses
-
Hahn JS, Henry M, Hudgins L, Madan A (2001b). Congenital hypomyelination neuropathy in a newborn infant: unusual cause of diaphragmatic and vocal cord paralyses. Pediatrics 108:E95.
-
(2001)
Pediatrics
, vol.108
-
-
Hahn, J.S.1
Henry, M.2
Hudgins, L.3
Madan, A.4
-
69
-
-
0029912334
-
Ultrastructural distribution of PMP22 in Charcot-Marie-Tooth disease type 1A
-
Haney C, Snipes GJ, Shooter EM, Suter U, Garcia C, Griffin JW, Trapp BD (1996). Ultrastructural distribution of PMP22 in Charcot-Marie-Tooth disease type 1A. J Neuropathol Exp Neurol 55:290-299. (Pubitemid 26085578)
-
(1996)
Journal of Neuropathology and Experimental Neurology
, vol.55
, Issue.3
, pp. 290-299
-
-
Haney, C.1
Snipes, G.J.2
Shooter, E.M.3
Suter, U.4
Garcia, C.5
Griffin, J.W.6
Trapp, B.D.7
-
70
-
-
0027422165
-
De novo mutation of the myelin P(o) gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)
-
DOI 10.1038/ng1193-266
-
Hayasaka K, Himoro M, Sawaishi Y, Nanao K, Takahashi T, Takada G, Nicholson GA, Ouvrier RA, Tachi N (1993). De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nat Genet 5:266-268. (Pubitemid 23330390)
-
(1993)
Nature Genetics
, vol.5
, Issue.3
, pp. 266-268
-
-
Hayasaka, K.1
Himoro, M.2
Sawaishi, Y.3
Nanao, K.4
Takahashi, T.5
Takada, G.6
Nicholson, G.A.7
Ouvrier, R.A.8
Tachi, N.9
-
71
-
-
41649092989
-
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease
-
Henneke M, Combes P, Diekmann S, Bertini E, Brockmann K, Burlina AP, Kaiser J, Ohlenbusch A, Plecko B, Rodriguez D, Boespflug-Tanguy O, Gartner J (2008). GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. Neurology 70:748-754.
-
(2008)
Neurology
, vol.70
, pp. 748-754
-
-
Henneke, M.1
Combes, P.2
Diekmann, S.3
Bertini, E.4
Brockmann, K.5
Burlina, A.P.6
Kaiser, J.7
Ohlenbusch, A.8
Plecko, B.9
Rodriguez, D.10
Boespflug-Tanguy, O.11
Gartner, J.12
-
72
-
-
3543095095
-
SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma
-
Hirano R, Takashima H, Umehara F, Arimura H, Michizono K, Okamoto Y, Nakagawa M, Boerkoel CF, Lupski JR, Osame M, Arimura K (2004). SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma. Neurology 63:577-580. (Pubitemid 39031400)
-
(2004)
Neurology
, vol.63
, Issue.3
, pp. 577-580
-
-
Hirano, R.1
Takashima, H.2
Umehara, F.3
Arimura, H.4
Michizono, K.5
Okamoto, Y.6
Nakagawa, M.7
Boerkoel, C.F.8
Lupski, J.R.9
Osame, M.10
Arimura, K.11
-
73
-
-
0034743936
-
Mutations in the 5′ region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin
-
Houlden H, King RH, Wood NW, Thomas PK, Reilly MM (2001). Mutations in the 5′ region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin. Brain 124:907-915. (Pubitemid 32458503)
-
(2001)
Brain
, vol.124
, Issue.5
, pp. 907-915
-
-
Houlden, H.1
King, R.H.M.2
Wood, N.W.3
Thomas, P.K.4
Reilly, M.M.5
-
74
-
-
61849087866
-
A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H
-
Houlden H, Hammans S, Katifi H, Reilly MM (2009a). A novel Frabin (FGD4) nonsense mutation p.R275X associated with phenotypic variability in CMT4H. Neurology 72:617-620.
-
(2009)
Neurology
, vol.72
, pp. 617-620
-
-
Houlden, H.1
Hammans, S.2
Katifi, H.3
Reilly, M.M.4
-
75
-
-
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 SA, Blake J, Robinson S, King RH, Reilly MM (2009b). The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy. Neuromuscul Disord 19:264-269.
-
(2009)
Neuromuscul 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
-
76
-
-
0034810610
-
Identification of splicing variants of frabin with partly different functions and tissue distribution
-
DOI 10.1006/bbrc.2001.5481
-
Ikeda W, Nakanishi H, Takekuni K, Itoh S, Takai Y (2001). Identification of splicing variants of Frabinwith partly different functions and tissue distribution. Biochem Biophys Res Commun 286:1066-1072. (Pubitemid 32924880)
-
(2001)
Biochemical and Biophysical Research Communications
, vol.286
, Issue.5
, pp. 1066-1072
-
-
Ikeda, W.1
Nakanishi, H.2
Takekuni, K.3
Itoh, S.4
Takai, Y.5
-
77
-
-
0029880857
-
A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)
-
DOI 10.1006/bbrc.1996.0705
-
Ikegami T, Nicholson G, Ikeda H, Ishida A, Johnston H, Wise G, Ouvrier R, Hayasaka K (1996). A novel homozygous mutation of the myelin Po gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Biochem Biophys Res Commun 222:107-110. (Pubitemid 26152212)
-
(1996)
Biochemical and Biophysical Research Communications
, vol.222
, Issue.1
, pp. 107-110
-
-
Ikegami, T.1
Nicholson, G.2
Ikeda, H.3
Ishida, A.4
Johnston, H.5
Wise, G.6
Ouvrier, R.7
Hayasaka, K.8
-
78
-
-
0031924091
-
Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease
-
DOI 10.1007/s004390050694
-
Ikegami T, Ikeda H, Aoyama M, Matsuki T, Imota T, Fukuuchi Y, Amano T, Toyoshima I, Ishihara Y, Endoh H, Hayasaka K (1998). Novel mutations of the peripheral myelin protein 22 gene in two pedigrees with Dejerine-Sottas disease. Hum Genet 102:294-298. (Pubitemid 28185217)
-
(1998)
Human Genetics
, vol.102
, Issue.3
, pp. 294-298
-
-
Ikegami, T.1
Ikeda, H.2
Aoyama, M.3
Matsuki, T.4
Imota, T.5
Fukuuchi, Y.6
Amano, T.7
Toyoshima, I.8
Ishihara, Y.9
Endoh, H.10
Hayasaka, K.11
-
79
-
-
15444363703
-
PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2
-
Inoue K (2005). PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics 6:1-16.
-
(2005)
Neurogenetics
, vol.6
, pp. 1-16
-
-
Inoue, K.1
-
80
-
-
0029980998
-
A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR
-
Inoue K, Osaka H, Sugiyama N, Kawanishi C, Onishi H, Nezu A, Kimura K, Yamada Y, Kosaka K (1996). A duplicated PLP gene causing Pelizaeus-Merzbacher disease detected by comparative multiplex PCR. Am J Hum Genet 59:32-39. (Pubitemid 26189725)
-
(1996)
American Journal of Human Genetics
, vol.59
, Issue.1
, pp. 32-39
-
-
Inoue, K.1
Osaka, H.2
Sugiyama, N.3
Kawanishi, C.4
Onishi, H.5
Nezu, A.6
Kimura, K.7
Kimura, S.8
Yamada, Y.9
Kosaka, K.10
-
81
-
-
0032833425
-
Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation
-
DOI 10.1002/1531-8249(199909)46:3<313::AID-ANA6>3.0.CO;2-7
-
Inoue K, Tanabe Y, Lupski JR (1999). Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation. Ann Neurol 46:313-318. (Pubitemid 29416268)
-
(1999)
Annals of Neurology
, vol.46
, Issue.3
, pp. 313-318
-
-
Inoue, K.1
Tanabe, Y.2
Lupski, J.R.3
-
82
-
-
0036894042
-
Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: Phenotypes linked by SOX10 mutation
-
DOI 10.1002/ana.10404
-
Inoue K, Shilo K, Boerkoel CF, Crowe C, Sawady J, Lupski JR, Agamanolis DP (2002). Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation. Ann Neurol 52:836-842. (Pubitemid 35403196)
-
(2002)
Annals of Neurology
, vol.52
, Issue.6
, pp. 836-842
-
-
Inoue, K.1
Shilo, K.2
Boerkoel, C.F.3
Crowe, C.4
Sawady, J.5
Lupski, J.R.6
Agamanolis, D.P.7
-
83
-
-
12144285746
-
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations
-
DOI 10.1038/ng1322
-
Inoue K, Khajavi M, Ohyama T, Hirabayashi S, Wilson J, Reggin JD, Mancias P, Butler IJ, Wilkinson MF, Wegner M, Lupski JR (2004). Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet 36:361-369. (Pubitemid 38437258)
-
(2004)
Nature Genetics
, vol.36
, Issue.4
, pp. 361-369
-
-
Inoue, K.1
Khajavi, M.2
Ohyama, T.3
Hirabayashi, S.-I.4
Wilson, J.5
Reggin, J.D.6
Mancias, P.7
Butler, I.J.8
Wilkinson, M.F.9
Wegner, M.10
Lupski, J.R.11
-
84
-
-
0026576065
-
X-linked recessive Charcot-Marie-Tooth neuropathy: Clinical and genetic study
-
Ionasescu VV, Trofatter J, Haines JL, Summers AM, Ionasescu R, Searby C (1992). X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study. Muscle Nerve 15:368-373.
-
(1992)
Muscle Nerve
, vol.15
, pp. 368-373
-
-
Ionasescu, V.V.1
Trofatter, J.2
Haines, J.L.3
Summers, A.M.4
Ionasescu, R.5
Searby, C.6
-
85
-
-
0028788494
-
Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene
-
Ionasescu VV, Ionasescu R, Searby C, Neahring R (1995). Dejerine-Sottas disease with de novo dominant point mutation of the PMP22 gene. Neurology 45:1766-1767.
-
(1995)
Neurology
, vol.45
, pp. 1766-1767
-
-
Ionasescu, V.V.1
Ionasescu, R.2
Searby, C.3
Neahring, R.4
-
86
-
-
0030452124
-
Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: De novo dominant point mutation of the PMP22 gene
-
Ionasescu VV, Searby C, Greenberg SA (1996). Dejerine-Sottas disease with sensorineural hearing loss, nystagmus, and peripheral facial nerve weakness: de novo dominant point mutation of the PMP22 gene. J Med Genet 33:1048-1049.
-
(1996)
J Med Genet
, vol.33
, pp. 1048-1049
-
-
Ionasescu, V.V.1
Searby, C.2
Greenberg, S.A.3
-
87
-
-
67749145639
-
Induction of myelin protein zero by early growth response 2 through upstream and intragenic elements
-
Jang SW, Svaren J (2009). Induction of myelin protein zero by early growth response 2 through upstream and intragenic elements. J Biol Chem 284:20111-20120.
-
(2009)
J Biol Chem
, vol.284
, pp. 20111-20120
-
-
Jang, S.W.1
Svaren, J.2
-
88
-
-
25644456185
-
Dejerine-Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene
-
DOI 10.1016/j.jns.2005.05.003, PII S0022510X05001899
-
Jen J, Baloh RH, Ishiyama A, Baloh RW (2005). Dejerine-Sottas syndrome and vestibular loss due to a point mutation in the PMP22 gene. J Neurol Sci 237:21-24. (Pubitemid 41384009)
-
(2005)
Journal of the Neurological Sciences
, vol.237
, Issue.1-2
, pp. 21-24
-
-
Jen, J.1
Baloh, R.H.2
Ishiyama, A.3
Baloh, R.W.4
-
89
-
-
0037370894
-
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease
-
DOI 10.1093/brain/awg059
-
Jordanova A, De Jonghe P, Boerkoel CF, Takashima H, De Vriendt E, Ceuterick C, Martin JJ, Butler IJ, Mancias P, Papasozomenos S, Terespolsky D, Potocki L, Brown CW, Shy M, Rita DA, Tournev I, Kremensky I, Lupski JR, Timmerman V (2003). Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain 126:590-597. (Pubitemid 36240860)
-
(2003)
Brain
, vol.126
, Issue.3
, pp. 590-597
-
-
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.Ch.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
-
90
-
-
0027518166
-
Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17
-
Kaku DA, Parry GJ, Malamut R, Lupski JR, Garcia CA (1993). Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17. Neurology 43:1806-1808. (Pubitemid 23307959)
-
(1993)
Neurology
, vol.43
, Issue.9
, pp. 1806-1808
-
-
Kaku, D.A.1
Parry, G.J.2
Malamut, R.3
Lupski, J.R.4
Garcia, C.A.5
-
91
-
-
20144373282
-
125th ENMC International Workshop: Neuromuscular disorders in the Roma (Gypsy) population, 23-25 April 2004, Naarden, The Netherlands
-
DOI 10.1016/j.nmd.2004.09.008
-
Kalaydjieva L, Lochmuller H, Tournev I, Baas F, Beres J, Colomer J,Guergueltcheva V,Herrmann R, Karcagi V, King R, Miyata T, Mullner-Eidenbock A, Okuda T, Milic Rasic V, Santos M, Talim B, Vilchez J, Walter M, Urtizberea A, Merlini L (2005). 125th ENMC International Workshop: Neuromuscular disorders in the Roma (Gypsy) population, 23-25 April 2004, Naarden, The Netherlands. Neuromuscul Disord 15:65-71. (Pubitemid 41556635)
-
(2005)
Neuromuscular Disorders
, vol.15
, Issue.1
, pp. 65-71
-
-
Kalaydjieva, L.1
Lochmuller, H.2
Tournev, I.3
Baas, F.4
Beres, J.5
Colomer, J.6
Guergueltcheva, V.7
Herrmann, R.8
Karcagi, V.9
King, R.10
Miyata, T.11
Mullner-Eidenbock, A.12
Okuda, T.13
Rasic, V.M.14
Santos, M.15
Talim, B.16
Vilchez, J.17
Walter, M.18
Urtizberea, A.19
Merlini, L.20
more..
-
92
-
-
0017116810
-
Chronic polyradiculoneuropathy of infancy. A report of three cases with familial incidence
-
Kasman M, Bernstein L, Schulman S (1976). Chronic polyradiculoneuropathy of infancy. A report of three cases with familial incidence. Neurology 26:565-573.
-
(1976)
Neurology
, vol.26
, pp. 565-573
-
-
Kasman, M.1
Bernstein, L.2
Schulman, S.3
-
93
-
-
0030900182
-
A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease
-
Kessali M, Zemmouri R, Guilbot A, Maisonobe T, Brice A, LeGuern E, Grid D (1997). A clinical, electrophysiologic, neuropathologic, and genetic study of two large Algerian families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease. Neurology 48:867-873.
-
(1997)
Neurology
, vol.48
, pp. 867-873
-
-
Kessali, M.1
Zemmouri, R.2
Guilbot, A.3
Maisonobe, T.4
Brice, A.5
LeGuern, E.6
Grid, D.7
-
94
-
-
27244435246
-
Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zero-truncating mutants
-
DOI 10.1086/497541
-
Khajavi M, Inoue K, Wiszniewski W, Ohyama T, Snipes GJ, Lupski JR (2005). Curcumin treatment abrogates endoplasmic reticulum retention and aggregation-induced apoptosis associated with neuropathy-causing myelin protein zerotruncating mutants. Am J Hum Genet 77:841-850. (Pubitemid 41513284)
-
(2005)
American Journal of Human Genetics
, vol.77
, Issue.5
, pp. 841-850
-
-
Khajavi, M.1
Inoue, K.2
Wiszniewski, W.3
Ohyama, T.4
Snipes, G.J.5
Lupski, J.R.6
-
95
-
-
34548219064
-
Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: A potential therapy for inherited neuropathy
-
DOI 10.1086/519926
-
Khajavi M, Shiga K, Wiszniewski W, He F, Shaw CA, Yan J, Wensel TG, Snipes GJ, Lupski JR (2007). Oral curcumin mitigates the clinical and neuropathologic phenotype of the Trembler-J mouse: a potential therapy for inherited neuropathy. Am J Hum Genet 81:438-453. (Pubitemid 47330204)
-
(2007)
American Journal of Human Genetics
, vol.81
, Issue.3
, pp. 438-453
-
-
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
-
96
-
-
0033838030
-
Hereditary motor and sensory neuropathy with myelin folding and juvenile onset glaucoma
-
Kiwaki T, Umehara F, Takashima H, Nakagawa M, Kamimura K, Kashio N, Sakamoto Y, Unoki K, Nobuhara Y, Michizono K, Watanabe O, Arimura H, Osame M (2000). Hereditary motor and sensory neuropathy with myelin folding and juvenile onset glaucoma. Neurology 55:392-397. (Pubitemid 30650080)
-
(2000)
Neurology
, vol.55
, Issue.3
, pp. 392-397
-
-
Kiwaki, T.1
Umehara, F.2
Takashima, H.3
Nakagawa, M.4
Kamimura, K.5
Kashio, N.6
Sakamoto, Y.7
Unoki, K.8
Nobuhara, Y.9
Michizono, K.10
Watanabe, O.11
Arimura, H.12
Osame, M.13
-
97
-
-
0037310234
-
Early peripheral nervous system manifestations of infantile Krabbe disease
-
DOI 10.1016/S0887-8994(02)00489-7, PII S0887899402004897
-
Korn-Lubetzki I, Dor-Wollman T, Soffer D, Raas-Rothschild A, Hurvitz H, Nevo Y (2003). Early peripheral nervous system manifestations of infantile Krabbe disease. Pediatr Neurol 28:115-118. (Pubitemid 36434156)
-
(2003)
Pediatric Neurology
, vol.28
, Issue.2
, pp. 115-118
-
-
Korn-Lubetzki, I.1
Dor-Wollman, T.2
Soffer, D.3
Raas-Rothschild, A.4
Hurvitz, H.5
Nevo, Y.6
-
98
-
-
0031973873
-
Sox10, a novel transcriptional modulator in glial cells
-
Kuhlbrodt K, Herbarth B, Sock E, Hermans-Borgmeyer I, Wegner M(1998). Sox10, a novel transcriptional modulator in glial cells. J Neurosci 18:237-250. (Pubitemid 28046785)
-
(1998)
Journal of Neuroscience
, vol.18
, Issue.1
, pp. 237-250
-
-
Kuhlbrodt, K.1
Herbarth, B.2
Sock, E.3
Hermans-Borgmeyer, I.4
Wegner, M.5
-
99
-
-
0141891208
-
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases
-
Laporte J, Bedez F, Bolino A, Mandel JL (2003). Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases. Hum Mol Genet 12:R285-292. (Pubitemid 37259344)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.REV. ISS. 2
-
-
Laporte, J.1
Bedez, F.2
Bolino, A.3
Mandel, J.-L.4
-
101
-
-
0031031995
-
Patients homozygous for the 17p11.2 Duplication in charcot-marie-tooth type 1a disease
-
DOI 10.1002/ana.410410117
-
LeGuern E, Gouider R, Mabin D, Tardieu S, Birouk N, Parent P, Bouche P, Brice A (1997). Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease. Ann Neurol 41:104-108. (Pubitemid 27057099)
-
(1997)
Annals of Neurology
, vol.41
, Issue.1
, pp. 104-108
-
-
LeGuern, E.1
Gouider, R.2
Mabin, D.3
Tardieu, S.4
Birouk, N.5
Parent, P.6
Bouche, P.7
Brice, A.8
-
102
-
-
18244399333
-
Severe neuropathy with leaky connexin32 hemichannels
-
DOI 10.1002/ana.20459
-
Liang GS, de Miguel M, Gomez-Hernandez JM, Glass JD, Scherer SS, Mintz M, Barrio LC, Fischbeck KH (2005). Severe neuropathy with leaky connexin32 hemichannels. Ann Neurol 57:749-754. (Pubitemid 40628866)
-
(2005)
Annals of Neurology
, vol.57
, Issue.5
, pp. 749-754
-
-
Liang, G.S.L.1
De Miguel, M.2
Gomez-Hernandez, J.M.3
Glass, J.D.4
Scherer, S.S.5
Mintz, M.6
Barrio, L.C.7
Fischbeck, K.H.8
-
103
-
-
70449356628
-
Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway
-
Lupo V, Galindo MI, Martinez-Rubio D, Sevilla T, Vilchez JJ, Palau F, Espinos C (2009). Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway. Hum Mol Genet 18:4603-4614.
-
(2009)
Hum Mol Genet
, vol.18
, pp. 4603-4614
-
-
Lupo, V.1
Galindo, M.I.2
Martinez-Rubio, D.3
Sevilla, T.4
Vilchez, J.J.5
Palau, F.6
Espinos, C.7
-
104
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI (1991). DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66:219-232. (Pubitemid 121001361)
-
(1991)
Cell
, vol.66
, Issue.2
, pp. 219-232
-
-
Lupski, J.R.1
De Oca-Luna, R.M.2
Slaugenhaupt, S.3
Pentao, L.4
Guzzetta, V.5
Trask, B.J.6
Saucedo-Cardenas, O.7
Barker, D.F.8
Killian, J.M.9
Garcia, C.A.10
Chakravarti, A.11
Patel, P.I.12
-
105
-
-
0020041701
-
Metachromatic leucodystrophy: Review of 38 cases
-
MacFaul R, Cavanagh N, Lake BD, Stephens R, Whitfield AE (1982). Metachromatic leucodystrophy: review of 38 cases. Arch Dis Child 57:168-175. (Pubitemid 12190332)
-
(1982)
Archives of Disease in Childhood
, vol.57
, Issue.3
, pp. 168-175
-
-
MacFaul, R.1
Cavanagh, N.2
Lake, B.D.3
-
106
-
-
0032914609
-
Congenital hypomyelination due to myelin protein zero Q215X mutation
-
DOI 10.1002/1531-8249(199905)45:5<676::AID-ANA21>3.0.CO;2-K
-
Mandich P, Mancardi GL, Varese A, Soriani S, Di Maria E, Bellone E, Bado M, Gross L, Windebank AJ, Ajmar F, Schenone A (1999). Congenital hypomyelination due to myelin protein zero Q215X mutation. Ann Neurol 45:676-678. (Pubitemid 29217601)
-
(1999)
Annals of Neurology
, vol.45
, Issue.5
, pp. 676-678
-
-
Mandich, P.1
Mancardi, G.L.2
Varese, A.3
Soriani, S.4
Di, M.E.5
Bellone, E.6
Bado, M.7
Gross, L.8
Windebank, A.J.9
Ajmar, F.10
Schenone, A.11
-
107
-
-
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 GM, Cavallaro T, Taroni F, Pareyson D (2010). Four novel cases of periaxin-related neuropathy and review of the literature. Neurology 75:1830-1838.
-
(2010)
Neurology
, vol.75
, pp. 1830-1838
-
-
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
-
108
-
-
15644368240
-
Dejerine-Sottas neuropathy and PMP22 point mutations: A new base pair substitution and a possible 'hot spot' on Ser72
-
DOI 10.1002/ana.410430521
-
Marques W Jr, Thomas PK, Sweeney MG, Carr L, Wood NW (1998). Dejerine-Sottas neuropathy and PMP22 point mutations: a new base pair substitution and a possible "hot spot" on Ser72. Ann Neurol 43:680-683. (Pubitemid 28225564)
-
(1998)
Annals of Neurology
, vol.43
, Issue.5
, pp. 680-683
-
-
Marques Jr., W.1
Thomas, P.K.2
Sweeney, M.G.3
Carr, L.4
Wood, N.W.5
-
109
-
-
4344677874
-
Dejerine-Sottas' neuropathy cased by the missense mutation PMP22 Ser72Leu
-
DOI 10.1111/j.1600-0404.2004.00295.x
-
Marques W Jr, Neto JM, Barreira AA (2004). Dejerine-Sottas' neuropathy caused by the missense mutation PMP22 Ser72Leu. Acta Neurol Scand 110:196-199. (Pubitemid 39141292)
-
(2004)
Acta Neurologica Scandinavica
, vol.110
, Issue.3
, pp. 196-199
-
-
Marques Jr., W.1
Pina, N.J.M.2
Barreira, A.A.3
-
110
-
-
34249024325
-
Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: A rare cause of parainfectious rhabdomyolysis
-
DOI 10.1007/s00431-006-0307-9
-
Mastroyianni SD, Garoufi A, Voudris K, Skardoutsou A, Stefanidis CJ, Katsarou E, Gooding R, Kalaydjieva L (2007). Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis. Eur J Pediatr 166:747-749. (Pubitemid 46800732)
-
(2007)
European Journal of Pediatrics
, vol.166
, Issue.7
, pp. 747-749
-
-
Mastroyianni, S.D.1
Garoufi, A.2
Voudris, K.3
Skardoutsou, A.4
Stefanidis, C.J.5
Katsarou, E.6
Gooding, R.7
Kalaydjieva, L.8
-
111
-
-
77957752031
-
Novel MPZ mutations and congenital hypomyelinating neuropathy
-
McMillan HJ, Santagata S, Shapiro F, Batish SD, Couchon L, Donnelly S, Kang PB (2010). Novel MPZ mutations and congenital hypomyelinating neuropathy. Neuromuscul Disord 20:725-729.
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 725-729
-
-
McMillan, H.J.1
Santagata, S.2
Shapiro, F.3
Batish, S.D.4
Couchon, L.5
Donnelly, S.6
Kang, P.B.7
-
112
-
-
0033911099
-
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene
-
DOI 10.1086/302962
-
Mersiyanova IV, Perepelov AV, Polyakov AV, Sitnikov VF, Dadali EL, Oparin RB, Petrin AN, Evgrafov OV (2000). 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 67:37-46. (Pubitemid 30481542)
-
(2000)
American Journal of Human Genetics
, vol.67
, Issue.1
, pp. 37-46
-
-
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
-
113
-
-
0022591476
-
Nerve conduction studies in infants and children
-
Miller RG, Kuntz NL (1986). Nerve conduction studies in infants and children. J Child Neurol 1:19-26. (Pubitemid 16091520)
-
(1986)
Journal of Child Neurology
, vol.1
, Issue.1
, pp. 19-26
-
-
Miller, R.G.1
Kuntz, N.L.2
-
114
-
-
34447260902
-
Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene
-
DOI 10.1001/archneur.64.7.966
-
Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, Timmerman V, Windpassinger C, Auer-Grumbach M, Loscher WN (2007). Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene. Arch Neurol 64:966-970. (Pubitemid 47047996)
-
(2007)
Archives of Neurology
, vol.64
, Issue.7
, pp. 966-970
-
-
Miltenberger-Miltenyi, G.1
Janecke, A.R.2
Wanschitz, J.V.3
Timmerman, V.4
Windpassinger, C.5
Auer-Grumbach, M.6
Loscher, W.N.7
-
115
-
-
3042563352
-
Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome
-
DOI 10.1016/j.ophtha.2003.11.007, PII S0161642004001691
-
Mullner-Eidenbock A, Moser E, Klebermass N, Amon M, Walter MC, Lochmuller H, Gooding R, Kalaydjieva L (2004). Ocular features of the congenital cataracts facial dysmorphism neuropathy syndrome. Ophthalmology 111:1415-1423. (Pubitemid 38844846)
-
(2004)
Ophthalmology
, vol.111
, Issue.7
, pp. 1415-1423
-
-
Mullner-Eidenbock, A.1
Moser, E.2
Klebermass, N.3
Amon, M.4
Walter, M.C.5
Lochmuller, H.6
Gooding, R.7
Kalaydjieva, L.8
-
116
-
-
17944368880
-
The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter
-
DOI 10.1006/nbdi.2001.0397
-
Musso M, Balestra P, Bellone E, Cassandrini D, Di Maria E, Doria LL, Grandis M, Mancardi GL, Schenone A, Levi G, Ajmar F, Mandich P (2001). The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter. Neurobiol Dis 8:700-706. (Pubitemid 32758673)
-
(2001)
Neurobiology of Disease
, vol.8
, Issue.4
, pp. 700-706
-
-
Musso, M.1
Balestra, P.2
Bellone, E.3
Cassandrini, D.4
Di, M.E.5
Lamba, D.L.6
Grandis, M.7
Mancardi, G.8
Schenone, A.9
Levi, G.10
Ajmar, F.11
Mandich, P.12
-
117
-
-
0034981923
-
EGR2 mutations in inherited neuropathies dominant-negatively inhibit myelin gene expression
-
DOI 10.1016/S0896-6273(01)00282-3
-
Nagarajan R, Svaren J, Le N, Araki T, Watson M, Milbrandt J (2001). EGR2 mutations in inherited neuropathies dominant-negatively inhibit myelin gene expression. Neuron 30:355-368. (Pubitemid 32530581)
-
(2001)
Neuron
, vol.30
, Issue.2
, pp. 355-368
-
-
Nagarajan, R.1
Svaren, J.2
Le, N.3
Araki, T.4
Watson, M.5
Milbrandt, J.6
-
118
-
-
0026508774
-
Cockayne syndrome: Review of 140 cases
-
Nance MA, Berry SA (1992). Cockayne syndrome: review of 140 cases. Am J Med Genet 42:68-84.
-
(1992)
Am J Med Genet
, vol.42
, pp. 68-84
-
-
Nance, M.A.1
Berry, S.A.2
-
119
-
-
84866312323
-
Cockayne Syndrome
-
updated March 07, Pagon RA, Bird TC, Dolan CR, Stephens K (Eds). Copyright, University ofWashington, Seattle, Available at
-
Neilan EG (updated March 07, 2006). Cockayne Syndrome. In: GeneReviews at GeneTests: Medical Genetics Information Resource (database online)., Pagon RA, Bird TC, Dolan CR, Stephens K (Eds). Copyright, University ofWashington, Seattle, pp 1997-2011. Available at http://www.genetests.org.
-
(2006)
GeneReviews at GeneTests: Medical Genetics Information Resource (Database Online)
, pp. 1997-2011
-
-
Neilan, E.G.1
-
120
-
-
0037168759
-
Mutations in GDAP1: Autosomal recessive CMT with demyelination and axonopathy
-
Nelis E, Erdem S, Van Den Bergh PY, Belpaire-Dethiou MC, Ceuterick C, Van Gerwen V, Cuesta A, Pedrola L, Palau F, Gabreels-Festen AA, Verellen C, Tan E, Demirci M, Van Broeckhoven C, De Jonghe P, Topaloglu H, Timmerman V (2002). Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. Neurology 59:1865-1872. (Pubitemid 36076556)
-
(2002)
Neurology
, vol.59
, Issue.12
, pp. 1865-1872
-
-
Nelis, E.1
Erdem, S.2
Van Den, B.P.Y.K.3
Belpaire-Dethiou, M.-C.4
Ceuterick, C.5
Van Gerwen, V.6
Cuesta, A.7
Pedrola, L.8
Palau, F.9
Gabreels-Festen, A.A.W.M.10
Verellen, C.11
Tan, E.12
Demirci, M.13
Van Broeckhoven, C.14
De Jonghe, P.15
Topaloglu, H.16
Timmerman, V.17
-
121
-
-
0027723256
-
Intermediate nerve conduction velocities define X-linked Charcot-Marie- Tooth neuropathy families
-
Nicholson G, Nash J (1993). Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families. Neurology 43:2558-2564. (Pubitemid 24004545)
-
(1993)
Neurology
, vol.43
, Issue.12 I
, pp. 2558-2564
-
-
Nicholson, G.1
Nash, J.2
-
122
-
-
79959752314
-
Distinctive genetic and clinical features of CMT4J: A severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4
-
Nicholson G, Lenk GM, Reddel SW, Grant AE, Towne CF, Ferguson CJ, Simpson E, Scheuerle A, Yasick M, Hoffman S, Blouin R, Brandt C, Coppola G, Biesecker LG, Batish SD, Meisler MH (2011). Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4. Brain 134:1959-1971.
-
(2011)
Brain
, vol.134
, pp. 1959-1971
-
-
Nicholson, G.1
Lenk, G.M.2
Reddel, S.W.3
Grant, A.E.4
Towne, C.F.5
Ferguson, C.J.6
Simpson, E.7
Scheuerle, A.8
Yasick, M.9
Hoffman, S.10
Blouin, R.11
Brandt, C.12
Coppola, G.13
Biesecker, L.G.14
Batish, S.D.15
Meisler, M.H.16
-
123
-
-
25444514731
-
Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: New implications for Charcot-Marie-Tooth disease
-
DOI 10.1083/jcb.200507087
-
Niemann A, Ruegg M, La Padula V, Schenone A, Suter U (2005). Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. J Cell Biol 170:1067-1078. (Pubitemid 41362639)
-
(2005)
Journal of Cell Biology
, vol.170
, Issue.7
, pp. 1067-1078
-
-
Niemann, A.1
Ruegg, M.2
La, P.V.3
Schenone, A.4
Suter, U.5
-
124
-
-
70350348361
-
GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance
-
Niemann A, Wagner KM, Ruegg M, Suter U (2009). GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance. Neurobiol Dis 36:509-520.
-
(2009)
Neurobiol Dis
, vol.36
, pp. 509-520
-
-
Niemann, A.1
Wagner, K.M.2
Ruegg, M.3
Suter, U.4
-
125
-
-
0037962923
-
Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1
-
DOI 10.1016/S0022-510X(03)00028-5
-
Numakura C, Shirahata E, Yamashita S, Kanai M, Kijima K, Matsuki T, Hayasaka K (2003). Screening of the early growth response 2 gene in Japanese patients with Charcot-Marie-Tooth disease type 1. J Neurol Sci 210:61-64. (Pubitemid 36539406)
-
(2003)
Journal of the Neurological Sciences
, vol.210
, Issue.1-2
, pp. 61-64
-
-
Numakura, C.1
Shirahata, E.2
Yamashita, S.3
Kanai, M.4
Kijima, K.5
Matsuki, T.6
Hayasaka, K.7
-
126
-
-
0024322088
-
Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding
-
Ohnishi A, Murai Y, Ikeda M, Fujita T, Furuya H, Kuroiwa Y (1989). Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding. Muscle Nerve 12:568-575. (Pubitemid 19182117)
-
(1989)
Muscle and Nerve
, vol.12
, Issue.7
, pp. 568-575
-
-
Ohnishi, A.1
Murai, Y.2
Ikeda, M.3
Fujita, T.4
Furuya, H.5
Kuroiwa, Y.6
-
127
-
-
0023127966
-
The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood
-
Ouvrier RA, McLeod JG, Conchin TE (1987). The hypertrophic forms of hereditary motor and sensory neuropathy. A study of hypertrophic Charcot-Marie-Tooth disease (HMSN type I) and Dejerine-Sottas disease (HMSN type III) in childhood. Brain 110:121-148.
-
(1987)
Brain
, vol.110
, pp. 121-148
-
-
Ouvrier, R.A.1
McLeod, J.G.2
Conchin, T.E.3
-
128
-
-
0027527767
-
Electrophysiologic correlates of peripheral nervous system maturation in infancy and childhood
-
Parano E, Uncini A, De Vivo DC, Lovelace RE (1993). Electrophysiologic correlates of peripheral nervous system maturation in infancy and childhood. J Child Neurol 8:336-338. (Pubitemid 23292465)
-
(1993)
Journal of Child Neurology
, vol.8
, Issue.4
, pp. 336-338
-
-
Parano, E.1
Uncini, A.2
De Vivo, D.C.3
Lovelace, R.E.4
-
129
-
-
0034050426
-
Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation
-
Pareyson D, Taroni F, Botti S, Morbin M, Baratta S, Lauria G, Ciano C, Sghirlanzoni A (2000). Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation. Neurology 54:1696-1698. (Pubitemid 30226822)
-
(2000)
Neurology
, vol.54
, Issue.8
, pp. 1696-1698
-
-
Pareyson, D.1
Taroni, F.2
Botti, S.3
Morbin, M.4
Baratta, S.5
Lauria, G.6
Ciano, C.7
Sghirlanzoni, A.8
-
130
-
-
8144226612
-
Clinicopathological and genetic study of early-onset demyelinating neuropathy
-
DOI 10.1093/brain/awh275
-
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 PJ, Said G (2004). Clinicopathological and genetic study of early-onset demyelinating neuropathy. Brain 127:2540-2550. (Pubitemid 39472982)
-
(2004)
Brain
, vol.127
, Issue.11
, pp. 2540-2550
-
-
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
Necefov, A.12
Deymeer, F.13
Serdaroglu, P.14
Brophy, P.J.15
Said, G.16
-
131
-
-
0345389974
-
22 gene in Dejerine-Sottas disease
-
DOI 10.1002/1531-8249(199904)45:4<518::AID-ANA15>3.0.CO;2-U
-
Parman Y, Plante-Bordeneuve V, Guiochon-Mantel A, Eraksoy M, Said G (1999). Recessive inheritance of a new point mutation of the PMP22 gene in Dejerine-Sottas disease. Ann Neurol 45:518-522. (Pubitemid 29165820)
-
(1999)
Annals of Neurology
, vol.45
, Issue.4
, pp. 518-522
-
-
Parman, Y.1
Plante-Bordeneuve, V.2
Guiochon-Mantel, A.3
Eraksoy, M.4
Said, G.5
-
132
-
-
17744376804
-
GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria
-
DOI 10.1093/hmg/ddi121
-
Pedrola L, Espert A, Wu X, Claramunt R, Shy ME, Palau F (2005). GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. Hum Mol Genet 14:1087-1094. (Pubitemid 40575884)
-
(2005)
Human Molecular Genetics
, vol.14
, Issue.8
, pp. 1087-1094
-
-
Pedrola, L.1
Espert, A.2
Wu, X.3
Claramunt, R.4
Shy, M.E.5
Palau, F.6
-
133
-
-
0032893517
-
Congenital hypomyelinating neuropathy: Two patients with long-term follow-up
-
PII S0887899498001428
-
Phillips JP, Warner LE, Lupski JR, Garg BP (1999). Congenital hypomyelinating neuropathy: two patients with long-term follow-up. Pediatr Neurol 20:226-232. (Pubitemid 29166469)
-
(1999)
Pediatric Neurology
, vol.20
, Issue.3
, pp. 226-232
-
-
Phillips, J.P.1
Warner, L.E.2
Lupski, J.R.3
Garg, B.P.4
-
134
-
-
17344366171
-
SOX10 mutations in patients with Waardenburg-Hirschsprung disease
-
DOI 10.1038/ng0298-171
-
Pingault V, Bondurand N, Kuhlbrodt K, Goerich DE, Prehu MO, Puliti A, Herbarth B, Hermans-Borgmeyer I, Legius E, Matthijs G, Amiel J, Lyonnet S, Ceccherini I, Romeo G, Smith JC, Read AP, Wegner M, Goossens M (1998). SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet 18:171-173. (Pubitemid 28082467)
-
(1998)
Nature Genetics
, vol.18
, Issue.2
, pp. 171-173
-
-
Pingault, V.1
Bondurand, N.2
Kuhlbrodt, K.3
Goerich, D.E.4
Prehu, M.-O.5
Pulitil, A.6
Herbarth, B.7
Hermans-Borgmeyer, I.8
Legius, E.9
Matthijs, G.10
Amiel, J.11
Lyonnet, S.12
Ceccherini, I.13
Romeo, G.14
Smith, J.C.15
Read, A.P.16
Wegner, M.17
Goossens, M.18
-
135
-
-
0034295096
-
Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: A developmental "neural crest syndrome" related to a SOX10 mutation
-
Pingault V, Guiochon-Mantel A, Bondurand N, Faure C, Lacroix C, Lyonnet S, Goossens M, Landrieu P (2000). Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: a developmental "neural crest syndrome" related to a SOX10 mutation. Ann Neurol 48:671-676.
-
(2000)
Ann Neurol
, vol.48
, pp. 671-676
-
-
Pingault, V.1
Guiochon-Mantel, A.2
Bondurand, N.3
Faure, C.4
Lacroix, C.5
Lyonnet, S.6
Goossens, M.7
Landrieu, P.8
-
136
-
-
0036705658
-
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism
-
DOI 10.1007/s00439-002-0765-8
-
Pingault V, Girard M, Bondurand N, Dorkins H, Van Maldergem L, Mowat D, Shimotake T, Verma I, Baumann C, Goossens M (2002). SOX10 mutations in chronic intestinal pseudoobstruction suggest a complex physiopathological mechanism. Hum Genet 111:198-206. (Pubitemid 36075039)
-
(2002)
Human Genetics
, vol.111
, Issue.2
, pp. 198-206
-
-
Pingault, V.1
Girard, M.2
Bondurand, N.3
Dorkins, H.4
Van Maldergem, L.5
Mowat, D.6
Shimotake, T.7
Verma, I.8
Baumann, C.9
Goossens, M.10
-
137
-
-
9344241377
-
Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: Clinical, electrophysiologic, and genetic aspects of a large family
-
Quattrone A, Gambardella A, Bono F, Aguglia U, Bolino A, Bruni AC, Montesi MP, Oliveri RL, Sabatelli M, Tamburrini O, Valentino P, Van Broeckhoven C, Zappia M (1996). Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family. Neurology 46:1318-1324. (Pubitemid 26159294)
-
(1996)
Neurology
, vol.46
, Issue.5
, pp. 1318-1324
-
-
Quattrone, A.1
Gambardella, A.2
Bono, F.3
Aguglia, U.4
Bolino, A.5
Bruni, A.C.6
Montesi, M.P.7
Oliveri, R.L.8
Sabatelli, M.9
Tamburrini, O.10
Valentino, P.11
Van Broeckhoven, C.12
Zappia, M.13
-
138
-
-
0027486810
-
Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene
-
DOI 10.1038/ng1193-269
-
Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR (1993). Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene. Nat Genet 5:269-273. (Pubitemid 23330391)
-
(1993)
Nature Genetics
, vol.5
, Issue.3
, pp. 269-273
-
-
Roa, B.B.1
Dyck, P.J.2
Marks, H.G.3
Chance, P.F.4
Lupski, J.R.5
-
139
-
-
24744446022
-
The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease
-
DOI 10.1074/jbc.M505159200
-
Robinson FL, Dixon JE (2005). The phosphoinositide-3-phos phatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease. J Biol Chem 280:31699-31707. (Pubitemid 41291917)
-
(2005)
Journal of Biological Chemistry
, vol.280
, Issue.36
, pp. 31699-31707
-
-
Robinson, F.L.1
Dixon, J.E.2
-
140
-
-
39649112652
-
Hypomyelination and congenital cataract: Neuroimaging features of a novel inherited white matter disorder
-
DOI 10.3174/ajnr.A0792
-
Rossi A, Biancheri R, Zara F, Bruno C, Uziel G, van der Knaap MS, Minetti C, Tortori-Donati P (2008). Hypomyelination and congenital cataract: neuroimaging features of a novel inherited white matter disorder. AJNR Am J Neuroradiol 29:301-305. (Pubitemid 351287886)
-
(2008)
American Journal of Neuroradiology
, vol.29
, Issue.2
, pp. 301-305
-
-
Rossi, A.1
Biancheri, R.2
Zara, F.3
Bruno, C.4
Uziel, G.5
Van Der, K.M.S.6
Minetti, C.7
Tortori-Donati, P.8
-
141
-
-
78751584739
-
Variable phenotypes are associated with PMP22 missense mutations
-
Russo M, Laura M, Polke JM, Davis MB, Blake J, Brandner S, Hughes RA, Houlden H, Bennett DL, Lunn MP, Reilly MM (2011). Variable phenotypes are associated with PMP22 missense mutations. Neuromuscul Disord 21:106-114.
-
(2011)
Neuromuscul Disord
, vol.21
, pp. 106-114
-
-
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
-
142
-
-
0033986770
-
Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: A distinct and homogeneous entity
-
DOI 10.1016/S0960-8966(99)00057-7, PII S0960896699000577
-
Salih MA, Maisonobe T, Kabiraj M, al Rayess M, al-Turaiki MH, Akbar M, Tahan A, Urtizberea JA, Grid D, Hamadouche T, Guilbot A, Brice A, Leguern E (2000). Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity. Neuromuscul Disord 10:10-15. (Pubitemid 30006858)
-
(2000)
Neuromuscular Disorders
, vol.10
, Issue.1
, pp. 10-15
-
-
Salih, M.A.M.1
Maisonobe, T.2
Kabiraj, M.3
Al, R.M.4
Al-Turaiki, M.H.S.5
Akbar, M.6
Tahan, A.7
Urtizberea, J.A.8
Grid, D.9
Hamadouche, T.10
Guilbot, A.11
Brice, A.12
Leguern, E.13
-
143
-
-
33644771266
-
Aggregate formation and phosphorylation of neurofilament-L Pro22 Charcot-Marie-Tooth disease mutants
-
DOI 10.1093/hmg/ddl011
-
Sasaki T, Gotow T, Shiozaki M, Sakaue F, Saito T, Julien JP, Uchiyama Y, Hisanaga S (2006). Aggregate formation and phosphorylation of neurofilament-L Pro22 Charcot-Marie-Tooth disease mutants. Hum Mol Genet 15:943-952. (Pubitemid 43338235)
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.6
, pp. 943-952
-
-
Sasaki, T.1
Gotow, T.2
Shiozaki, M.3
Sakaue, F.4
Saito, T.5
Julien, J.-P.6
Uchiyama, Y.7
Hisanaga, S.-I.8
-
144
-
-
0022760270
-
Peripheral neuropathy in Cockayne syndrome
-
Schenone A, Rolando S, Ferrari M, Romagnoli P, Tabaton M, Mancardi GL (1986). Peripheral neuropathy in Cockayne syndrome. Ital J Neurol Sci 7:447-452.
-
(1986)
Ital J Neurol Sci
, vol.7
, pp. 447-452
-
-
Schenone, A.1
Rolando, S.2
Ferrari, M.3
Romagnoli, P.4
Tabaton, M.5
Mancardi, G.L.6
-
145
-
-
0029615322
-
Periaxin expression in myelinating Schwann cells: Modulation by axon-glial interactions and polarized localization during development
-
Scherer SS, Xu YT, Bannerman PG, Sherman DL, Brophy PJ (1995). Periaxin expression in myelinating Schwann cells: modulation by axon-glial interactions and polarized localization during development. Development 121:4265-4273. (Pubitemid 26007377)
-
(1995)
Development
, vol.121
, Issue.12
, pp. 4265-4273
-
-
Scherer, S.S.1
Xu, Y.-T.2
Bannerman, P.G.C.3
Sherman, D.L.4
Brophy, P.J.5
-
146
-
-
62349126641
-
Invited article: An MRI-based approach to the diagnosis of white matter disorders
-
Schiffmann R, van der Knaap MS (2009). Invited article: an MRI-based approach to the diagnosis of white matter disorders. Neurology 72:750-759.
-
(2009)
Neurology
, vol.72
, pp. 750-759
-
-
Schiffmann, R.1
Van Der Knaap, M.S.2
-
147
-
-
0027135790
-
Disruption of Krox-20 results in alteration of rhombomeres 3 and 5 in the developing hindbrain
-
DOI 10.1016/0092-8674(93)90329-O
-
Schneider-Maunoury S, Topilko P, Seitandou T, Levi G, Cohen-Tannoudji M, Pournin S, Babinet C, Charnay P (1993). Disruption of Krox-20 results in alteration of rhombomeres 3 and 5 in the developing hindbrain. Cell 75:1199-1214. (Pubitemid 24006116)
-
(1993)
Cell
, vol.75
, Issue.6
, pp. 1199-1214
-
-
Schneider-Maunoury, S.1
Topilko, P.2
Seitanidou, T.3
Levi, G.4
Cohen-Tannoudji, M.5
Pournin, S.6
Babinet, C.7
Charnay, P.8
-
148
-
-
33745243384
-
Neuropathology of Charcot-Marie-Tooth and related disorders
-
Schroder JM (2006). Neuropathology of Charcot-Marie-Tooth and related disorders. Neuromolecular Med 8:23-42.
-
(2006)
Neuromolecular Med
, vol.8
, pp. 23-42
-
-
Schroder, J.M.1
-
149
-
-
0037370916
-
Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy
-
DOI 10.1093/brain/awg068
-
Senderek J, Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, Zuchner S, De Jonghe P, Rudnik-Schoneborn S, Zerres K, Schroder JM (2003a). Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. Brain 126:642-649. (Pubitemid 36240865)
-
(2003)
Brain
, vol.126
, Issue.3
, 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
-
150
-
-
0242522455
-
Mutations in a Gene Encoding a Novel SH3/TPR Domain Protein Cause Autosomal Recessive Charcot-Marie-Tooth Type 4C Neuropathy
-
DOI 10.1086/379525
-
Senderek J, Bergmann C, Stendel C, Kirfel J, Verpoorten N, De Jonghe P, Timmerman V, Chrast R, Verheijen MH, Lemke G, Battaloglu E, Parman Y, Erdem S, Tan E, Topaloglu H, Hahn A, Muller-Felber W, Rizzuto N, Fabrizi GM, 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 (2003b). Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Am J Hum Genet 73:1106-1119. (Pubitemid 37414223)
-
(2003)
American Journal of Human Genetics
, vol.73
, Issue.5
, pp. 1106-1119
-
-
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.G.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
Schroder, J.M.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..
-
151
-
-
0037322882
-
Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy tye 4B2/11p15
-
DOI 10.1093/hmg/ddg030
-
Senderek J, Bergmann C, Weber S, Ketelsen UP, Schorle H, Rudnik-Schoneborn S, Buttner R, Buchheim E, Zerres K (2003c). Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15. Hum Mol Genet 12:349-356. (Pubitemid 36204431)
-
(2003)
Human Molecular Genetics
, vol.12
, Issue.3
, pp. 349-356
-
-
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
-
152
-
-
0041821401
-
Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene
-
DOI 10.1093/brain/awg202
-
Sevilla T, Cuesta A, Chumillas MJ, Mayordomo F, Pedrola L, Palau F, Vilchez JJ (2003). Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene. Brain 126:2023-2033. (Pubitemid 37059442)
-
(2003)
Brain
, vol.126
, Issue.9
, pp. 2023-2033
-
-
Sevilla, T.1
Cuesta, A.2
Chumillas, M.J.3
Mayordomo, F.4
Pedrola, L.5
Palau, F.6
Vilchez, J.J.7
-
153
-
-
55749093730
-
Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy
-
Sevilla T, Jaijo T, Nauffal D, Collado D, Chumillas MJ, Vilchez JJ, Muelas N, Bataller L, Domenech R, Espinos C, Palau F (2008). Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy. Brain 131:3051-3061.
-
(2008)
Brain
, vol.131
, pp. 3051-3061
-
-
Sevilla, T.1
Jaijo, T.2
Nauffal, D.3
Collado, D.4
Chumillas, M.J.5
Vilchez, J.J.6
Muelas, N.7
Bataller, L.8
Domenech, R.9
Espinos, C.10
Palau, F.11
-
154
-
-
25644437835
-
Congenital cataract facial dysmorphism neuropathy syndrome: A clinically recognizable entity
-
DOI 10.1016/j.pediatrneurol.2005.04.011, PII S0887899405002365
-
Shabo G, Scheffer H, Cruysberg JR, Lammens M, Pasman JW, Spruit M, Willemsen MA (2005). Congenital cataract facial dysmorphism neuropathy syndrome: a clinically recognizable entity. Pediatr Neurol 33:277-279. (Pubitemid 41382507)
-
(2005)
Pediatric Neurology
, vol.33
, Issue.4
, pp. 277-279
-
-
Shabo, G.1
Scheffer, H.2
Cruysberg, J.R.M.3
Lammens, M.4
Pasman, J.W.5
Spruit, M.6
Willemsen, M.A.A.P.7
-
155
-
-
33644523786
-
Peripheral neuropathies caused by mutations in the myelin protein zero
-
Shy ME (2006). Peripheral neuropathies caused by mutations in the myelin protein zero. J Neurol Sci 242:55-66.
-
(2006)
J Neurol Sci
, vol.242
, pp. 55-66
-
-
Shy, M.E.1
-
156
-
-
0037369640
-
Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy
-
DOI 10.1002/ana.10466
-
Shy ME, Hobson G, Jain M, Boespflug-Tanguy O, Garbern J, Sperle K, Li W, Gow A, Rodriguez D, Bertini E, Mancias P, Krajewski K, Lewis R, Kamholz J (2003). Schwann cell expression of PLP1 but not DM20 is necessary to prevent neuropathy. Ann Neurol 53:354-365. (Pubitemid 36258639)
-
(2003)
Annals of Neurology
, vol.53
, Issue.3
, pp. 354-365
-
-
Shy, M.E.1
Hobson, G.2
Jain, M.3
Boespflug-Tanguy, O.4
Garbern, J.5
Sperle, K.6
Li, W.7
Gow, A.8
Rodriguez, D.9
Bertini, E.10
Mancias, P.11
Krajewski, K.12
Lewis, R.13
Kamholz, J.14
-
157
-
-
10744221158
-
Phenotypic clustering in MPZ mutations
-
Shy ME, Jani A, Krajewski K, Grandis M, Lewis RA, Li J, Shy RR, Balsamo J, Lilien J, Garbern JY, Kamholz J (2004). Phenotypic clustering in MPZ mutations. Brain 127:371-384.
-
(2004)
Brain
, vol.127
, pp. 371-384
-
-
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
-
158
-
-
33747053949
-
Peripheral neuropathy in Krabbe disease: Electrodiagnostic findings
-
Siddiqi ZA, Sanders DB, Massey JM (2006). Peripheral neuropathy in Krabbe disease: electrodiagnostic findings. Neurology 67:263-267.
-
(2006)
Neurology
, vol.67
, pp. 263-267
-
-
Siddiqi, Z.A.1
Sanders, D.B.2
Massey, J.M.3
-
159
-
-
0033039998
-
Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22
-
DOI 10.1016/S0960-8966(99)00008-5, PII S0960896699000085
-
Simonati A, Fabrizi GM, Pasquinelli A, Taioli F, Cavallaro T, Morbin M, Marcon G, Papini M, Rizzuto N (1999). Congenital hypomyelination neuropathy with Ser72Leu substitution in PMP22. Neuromuscul Disord 9:257-261. (Pubitemid 29287262)
-
(1999)
Neuromuscular Disorders
, vol.9
, Issue.4
, pp. 257-261
-
-
Simonati, A.1
Fabrizi, G.M.2
Pasquinelli, A.3
Taioli, F.4
Cavallaro, T.5
Morbin, M.6
Marcon, G.7
Papini, M.8
Rizzuto, N.9
-
160
-
-
38649099040
-
Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family
-
DOI 10.1016/j.nmd.2007.07.011, PII S0960896607006839
-
Smit LS, Roofthooft D, van Ruissen F, Baas F, van Doorn PA (2008). Congenital hypomyelinating neuropathy, a long term follow-up study in an affected family. Neuromuscul Disord 18:59-62. (Pubitemid 351173837)
-
(2008)
Neuromuscular Disorders
, vol.18
, Issue.1
, pp. 59-62
-
-
Smit, L.S.1
Roofthooft, D.2
Van Ruissen, F.3
Baas, F.4
Van Doorn, P.A.5
-
161
-
-
0026519132
-
Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)
-
Snipes GJ, Suter U, Welcher AA, Shooter EM (1992). Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13). J Cell Biol 117:225-238.
-
(1992)
J Cell Biol
, vol.117
, pp. 225-238
-
-
Snipes, G.J.1
Suter, U.2
Welcher, A.A.3
Shooter, E.M.4
-
162
-
-
34347213793
-
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4
-
DOI 10.1086/518770
-
Stendel C, Roos A, Deconinck T, Pereira J, Castagner F, Niemann A, Kirschner J, Korinthenberg R, Ketelsen UP, Battaloglu E, Parman Y, Nicholson G, Ouvrier R, Seeger J, De Jonghe P, Weis J, Kruttgen A, Rudnik-Schoneborn S, Bergmann C, Suter U, Zerres K, Timmerman V, Relvas JB, Senderek J (2007). Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4. Am J Hum Genet 81:158-164. (Pubitemid 47001165)
-
(2007)
American Journal of Human Genetics
, vol.81
, Issue.1
, pp. 158-164
-
-
Stendel, C.1
Roos, A.2
Deconinck, T.3
Pereira, J.4
Castagner, F.5
Niemann, A.6
Kirschner, J.7
Korinthenberg, R.8
Ketelsen, U.-P.9
Battaloglu, E.10
Parman, Y.11
Nicholson, G.12
Ouvrier, R.13
Seeger, J.14
De Jonghe, P.15
Weis, J.16
Kruttgen, A.17
Rudnik-Schoneborn, S.18
Bergmann, C.19
Suter, U.20
Zerres, K.21
Timmerman, V.22
Relvas, J.B.23
Senderek, J.24
more..
-
163
-
-
77957026995
-
SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling
-
Stendel C, Roos A, Kleine H, Arnaud E, Ozcelik M, Sidiropoulos PN, Zenker J, Schupfer F, Lehmann U, Sobota RM, Litchfield DW, Luscher B, Chrast R, Suter U, Senderek J (2010). SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling. Brain 133:2462-2474.
-
(2010)
Brain
, vol.133
, pp. 2462-2474
-
-
Stendel, C.1
Roos, A.2
Kleine, H.3
Arnaud, E.4
Ozcelik, M.5
Sidiropoulos, P.N.6
Zenker, J.7
Schupfer, F.8
Lehmann, U.9
Sobota, R.M.10
Litchfield, D.W.11
Luscher, B.12
Chrast, R.13
Suter, U.14
Senderek, J.15
-
164
-
-
0030785663
-
Clinical and electrophysiological phenotype of a homozygously duplicated Charcot-Marie-Tooth (Type 1A) disease
-
Sturtz FG, Latour P, Mocquard Y, Cruz S, Fenoll B, LeFur JM, Mabin D, Chazot G, Vandenberghe A (1997). Clinical and electrophysiological phenotype of a homozygously duplicated Charcot-Marie-Tooth (type 1A) disease. Eur Neurol 38:26-30. (Pubitemid 27283075)
-
(1997)
European Neurology
, vol.38
, Issue.1
, pp. 26-30
-
-
Sturtz, F.G.1
Latour, P.2
Mocquard, Y.3
Cruz, S.4
Fenoll, B.5
Lefur, J.M.6
Mabin, D.7
Chazot, G.8
Vandenberghe, A.9
-
165
-
-
0041335143
-
Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation
-
DOI 10.1002/ana.10681
-
Szigeti K, Saifi GM, Armstrong D, Belmont JW, Miller G, Lupski JR (2003). Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation. Ann Neurol 54:398-402. (Pubitemid 37072045)
-
(2003)
Annals of Neurology
, vol.54
, Issue.3
, pp. 398-402
-
-
Szigeti, K.1
Saifi, G.M.2
Armstrong, D.3
Belmont, J.W.4
Miller, G.5
Lupski, J.R.6
-
166
-
-
35449001032
-
Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations
-
DOI 10.1007/s10048-007-0094-0
-
Szigeti K, Wiszniewski W, Saifi GM, Sherman DL, Sule N, Adesina AM, Mancias P, Papasozomenos S, Miller G, Keppen L, Daentl D, Brophy PJ, Lupski JR (2007). Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. Neurogenetics 8:257-262. (Pubitemid 47624451)
-
(2007)
Neurogenetics
, vol.8
, Issue.4
, pp. 257-262
-
-
Szigeti, K.1
Wiszniewski, W.2
Saifi, G.M.3
Sherman, D.L.4
Sule, N.5
Adesina, A.M.6
Mancias, P.7
Papasozomenos, S.Ch.8
Miller, G.9
Keppen, L.10
Daentl, D.11
Brophy, P.J.12
Lupski, J.R.13
-
167
-
-
0036267227
-
Periaxin mutations cause a broad spectrum of demyelinating neuropathies
-
DOI 10.1002/ana.10213
-
Takashima H, Boerkoel CF, De Jonghe P, Ceuterick C, Martin JJ, Voit T, Schroder JM, Williams A, Brophy PJ, Timmerman V, Lupski JR (2002). Periaxin mutations cause a broad spectrum of demyelinating neuropathies. Ann Neurol 51:709-715. (Pubitemid 34568849)
-
(2002)
Annals of Neurology
, vol.51
, Issue.6
, pp. 709-715
-
-
Takashima, H.1
Boerkoel, C.F.2
De Jonghe, P.3
Ceuterick, C.4
Martin, J.-J.5
Voit, T.6
Schroder, J.M.7
Williams, A.8
Brophy, P.J.9
Timmerman, V.10
Lupski, J.R.11
-
168
-
-
0033015744
-
Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype
-
Timmerman V, De Jonghe P, Ceuterick C, De Vriendt E, Lofgren A, Nelis E, Warner LE, Lupski JR, Martin JJ, Van Broeckhoven C (1999). Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype. Neurology 52:1827-1832. (Pubitemid 29260896)
-
(1999)
Neurology
, vol.52
, Issue.9
, pp. 1827-1832
-
-
Timmerman, V.1
De Jonghe, P.2
Ceuterick, C.3
De Vriendt, E.4
Lofgren, A.5
Nelis, E.6
Warner, L.E.7
Lupski, J.R.8
Martin, J.-J.9
Van Broeckhoven, C.10
-
169
-
-
0027984497
-
Krox-20 controls myelination in the peripheral nervous system
-
DOI 10.1038/371796a0
-
Topilko P, Schneider-Maunoury S, Levi G, Baron-Van Evercooren A, Chennoufi AB, Seitanidou T, Babinet C, Charnay P (1994). Krox-20 controls myelination in the peripheral nervous system. Nature 371:796-799. (Pubitemid 24333867)
-
(1994)
Nature
, vol.371
, Issue.6500
, pp. 796-799
-
-
Topilko, P.1
Schneider-Maunoury, S.2
Levi, G.3
Baron-Van, E.A.4
Younes, C.A.B.5
Seitanidou, T.6
Babinet, C.7
Charnay, P.8
-
170
-
-
0033927518
-
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain
-
DOI 10.1086/302895
-
Touraine RL, Attie-Bitach T, Manceau E, Korsch E, Sarda P, Pingault V, Encha-Razavi F, Pelet A, Auge J, Nivelon-Chevallier A, Holschneider AM, Munnes M, Doerfler W, Goossens M, Munnich A, Vekemans M, Lyonnet S (2000). Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. Am J Hum Genet 66:1496-1503. (Pubitemid 30463068)
-
(2000)
American Journal of Human Genetics
, vol.66
, Issue.5
, pp. 1496-1503
-
-
Touraine, R.L.1
Attie-Bitach, T.2
Manceau, E.3
Korsch, E.4
Sarda, P.5
Pingault, V.6
Encha-Razavi, F.7
Pelet, A.8
Auge, J.9
Nivelon-Chevallier, A.10
Holschneider, A.M.11
Munnes, M.12
Doerfler, W.13
Goossens, M.14
Munnich, A.15
Vekemans, M.16
Lyonnet, S.17
-
171
-
-
0033015804
-
Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: Clinical and electrophysiological observations
-
DOI 10.1002/1531-8249(199906)45:6<742::AID-ANA8>3.0.CO;2-N
-
Tournev I, Kalaydjieva L, Youl B, Ishpekova B,Guergueltcheva V, Kamenov O, Katzarova M, Kamenov Z, Raicheva-Terzieva M, King RH, Romanski K, Petkov R, Schmarov A, Dimitrova G, Popova N, Uzunova M, Milanov S, Petrova J, Petkov Y, Kolarov G, Aneva L, Radeva O, Thomas PK (1999a). Congenital cataracts facial dysmorphism neuropathy syndrome, a novel complex genetic disease in Balkan Gypsies: clinical and electrophysiological observations. Ann Neurol 45:742-750. (Pubitemid 29260751)
-
(1999)
Annals of Neurology
, vol.45
, Issue.6
, pp. 742-750
-
-
Tournev, I.1
Kalaydjieva, L.2
Youl, B.3
Ishpekova, B.4
Guergueltcheva, V.5
Kamenov, O.6
Katzarova, M.7
Kamenov, Z.8
Raicheva-Terzieva, M.9
King, R.H.M.10
Romanski, K.11
Petkov, R.12
Schmarov, A.13
Dimitrova, G.14
Popova, N.15
Uzunova, M.16
Milanov, S.17
Petrova, J.18
Petkov, Y.19
Kolarov, G.20
Aneva, L.21
Radeva, O.22
Thomas, P.K.23
more..
-
172
-
-
0032841954
-
Peripheral nerve abnormalities in the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome
-
DOI 10.1007/s004010051065
-
Tournev I, King RH, Workman J, Nourallah M, Muddle JR, Kalaydjieva L, Romanski K, Thomas PK (1999b). Peripheral nerve abnormalities in the congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome. Acta Neuropathol 98:165-170. (Pubitemid 29355549)
-
(1999)
Acta Neuropathologica
, vol.98
, Issue.2
, pp. 165-170
-
-
Tournev, I.1
King, R.H.M.2
Workman, J.3
Nourallah, M.4
Muddle, J.R.5
Kalaydjieva, L.6
Romanski, K.7
Thomas, P.K.8
-
173
-
-
0031044004
-
Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome
-
Tyson J, Ellis D, Fairbrother U, King RH, Muntoni F, Jacobs J, Malcolm S, Harding AE, Thomas PK (1997). Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome. Brain 120: (Pt 1):47-63.
-
(1997)
Brain
, vol.120
, Issue.PART 1
, pp. 47-63
-
-
Tyson, J.1
Ellis, D.2
Fairbrother, U.3
King, R.H.4
Muntoni, F.5
Jacobs, J.6
Malcolm, S.7
Harding, A.E.8
Thomas, P.K.9
-
174
-
-
38349192870
-
A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract
-
Ugur SA, Tolun A (2008). A deletion in DRCTNNB1A associated with hypomyelination and juvenile onset cataract. Eur J Hum Genet 16:261-264.
-
(2008)
Eur J Hum Genet
, vol.16
, pp. 261-264
-
-
Ugur, S.A.1
Tolun, A.2
-
175
-
-
3242693178
-
Mutations in the gene encoding gap junction protein alpha 12 (Connexin 46.6) cause Pelizaeus-Merbacher-like disease
-
DOI 10.1086/422763
-
Uhlenberg B, Schuelke M, Ruschendorf F, Ruf N, Kaindl AM, Henneke M, Thiele H, Stoltenburg-Didinger G, Aksu F, Topaloglu H, Nurnberg P, Hubner C, Weschke B, Gartner J (2004). Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease. Am J Hum Genet 75:251-260. (Pubitemid 38943868)
-
(2004)
American Journal of Human Genetics
, vol.75
, Issue.2
, pp. 251-260
-
-
Uhlenberg, B.1
Schuelke, M.2
Ruschendorf, F.3
Ruf, N.4
Kaindl, A.M.5
Henneke, M.6
Thiele, H.7
Stoltenburg-Didinger, G.8
Aksu, F.9
Topaloglu, H.10
Nurnberg, P.11
Hubner, C.12
Weschke, B.13
Gartner, J.14
-
176
-
-
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 (2002). Frequency of mutations in the early growth response 2 gene associated with peripheral demyelinating neuropathies. J Med Genet 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
-
177
-
-
0141618451
-
Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome
-
DOI 10.1038/ng1243
-
Varon R, Gooding R, Steglich C, Marns L, Tang H, Angelicheva D, Yong KK, Ambrugger P, Reinhold A, Morar B, Baas F, Kwa M, Tournev I, Guerguelcheva V, Kremensky I, Lochmuller H, Mullner-Eidenbock A, Merlini L, Neumann L, Burger J, Walter M, Swoboda K, Thomas PK, von Moers A, Risch N, Kalaydjieva L (2003). Partial deficiency of the C-terminal-domain phosphatase of RNA polymerase II is associated with congenital cataracts facial dysmorphism neuropathy syndrome. Nat Genet 35:185-189. (Pubitemid 37187639)
-
(2003)
Nature Genetics
, vol.35
, Issue.2
, pp. 185-189
-
-
Varon, R.1
Gooding, R.2
Steglich, C.3
Marns, L.4
Tang, H.5
Angelicheva, D.6
Yong, K.K.7
Ambrugger, P.8
Reinhold, A.9
Morar, B.10
Baas, F.11
Kwa, M.12
Tournev, I.13
Guerguelcheva, V.14
Kremensky, I.15
Lochmuller, H.16
Mullner-Eidenbock, A.17
Merlini, L.18
Neumann, L.19
Burger, J.20
Walter, M.21
Swoboda, K.22
Thomas, P.K.23
Von Moers, A.24
Risch, N.25
Kalaydjieva, L.26
more..
-
178
-
-
33645868643
-
Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: A case report and review of the literature
-
Verheij JB, Sival DA, van der Hoeven JH, Vos YJ, Meiners LC, Brouwer OF, van Essen AJ (2006). Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature. Eur J Paediatr Neurol 10:11-17.
-
(2006)
Eur J Paediatr Neurol
, vol.10
, pp. 11-17
-
-
Verheij, J.B.1
Sival, D.A.2
Van Der Hoeven, J.H.3
Vos, Y.J.4
Meiners, L.C.5
Brouwer, O.F.6
Van Essen, A.J.7
-
179
-
-
0020550852
-
The neuropathy of Cockayne syndrome
-
Vos A, Gabreels-Festen A, Joosten E, Gabreels F, Renier W, Mullaart R (1983). The neuropathy of Cockayne syndrome. Acta Neuropathol 61:153-156. (Pubitemid 13048366)
-
(1983)
Acta Neuropathologica
, vol.61
, Issue.2
, pp. 153-156
-
-
Vos, A.1
Gabreels, F.A.2
Joosten, E.3
-
180
-
-
16044362374
-
Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination
-
Warner LE, Hilz MJ, Appel SH, Killian JM, Kolodry EH, Karpati G, Carpenter S, Watters GV, Wheeler C, Witt D, Bodell A, Nelis E, Van Broeckhoven C, Lupski JR (1996). Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination. Neuron 17:451-460.
-
(1996)
Neuron
, vol.17
, pp. 451-460
-
-
Warner, L.E.1
Hilz, M.J.2
Appel, S.H.3
Killian, J.M.4
Kolodry, E.H.5
Karpati, G.6
Carpenter, S.7
Watters, G.V.8
Wheeler, C.9
Witt, D.10
Bodell, A.11
Nelis, E.12
Van Broeckhoven, C.13
Lupski, J.R.14
-
181
-
-
0031943222
-
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies
-
DOI 10.1038/ng0498-382
-
Warner LE, Mancias P, Butler IJ, McDonald CM, Keppen L, Koob KG, Lupski JR (1998). Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies. Nat Genet 18:382-384. (Pubitemid 28158170)
-
(1998)
Nature Genetics
, vol.18
, Issue.4
, pp. 382-384
-
-
Warner, L.E.1
Mancias, P.2
Butler, I.J.3
McDonald, C.M.4
Keppen, L.5
Koob, K.G.6
Lupski, J.R.7
-
182
-
-
0032797721
-
Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies
-
DOI 10.1093/hmg/8.7.1245
-
Warner LE, Svaren J, Milbrandt J, Lupski JR (1999). Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies. Hum Mol Genet 8:1245-1251. (Pubitemid 29328993)
-
(1999)
Human Molecular Genetics
, vol.8
, Issue.7
, pp. 1245-1251
-
-
Warner, L.E.1
Svaren, J.2
Milbrandt, J.3
Lupski, J.R.4
-
183
-
-
0038287953
-
Peripheral neuropathies of infancy
-
DOI 10.1017/S0012162203000768
-
Wilmshurst JM, Pollard JD, Nicholson G, Antony J, Ouvrier R (2003). Peripheral neuropathies of infancy. Dev Med Child Neurol 45:408-414. (Pubitemid 36612107)
-
(2003)
Developmental Medicine and Child Neurology
, vol.45
, Issue.6
, pp. 408-414
-
-
Wilmhurst, J.M.1
Pollard, J.D.2
Nicholson, G.3
Antony, J.4
Ouvrier, R.5
-
184
-
-
79951505710
-
A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood
-
Yiu EM, Geevasinga N, Nicholson GA, Fagan ER, Ryan MM, Ouvrier RA (2011). A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood. Neurology 76:461-466.
-
(2011)
Neurology
, vol.76
, pp. 461-466
-
-
Yiu, E.M.1
Geevasinga, N.2
Nicholson, G.A.3
Fagan, E.R.4
Ryan, M.M.5
Ouvrier, R.A.6
-
185
-
-
73549086741
-
A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy
-
Yum SW, Zhang J, Mo K, Li J, Scherer SS (2009). A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy. Ann Neurol 66:759-770.
-
(2009)
Ann Neurol
, vol.66
, pp. 759-770
-
-
Yum, S.W.1
Zhang, J.2
Mo, K.3
Li, J.4
Scherer, S.S.5
-
186
-
-
33749143617
-
Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract
-
DOI 10.1038/ng1870, PII NG1870
-
Zara F, Biancheri R, Bruno C, Bordo L, Assereto S, Gazzerro E, Sotgia F, Wang XB, Gianotti S, Stringara S, Pedemonte M, Uziel G, Rossi A, Schenone A, Tortori-Donati P, van der Knaap MS, Lisanti MP, Minetti C (2006). Deficiency of hyccin, a newly identified membrane protein, causes hypomyelination and congenital cataract. Nat Genet 38:1111-1113. (Pubitemid 44470355)
-
(2006)
Nature Genetics
, vol.38
, Issue.10
, pp. 1111-1113
-
-
Zara, F.1
Biancheri, R.2
Bruno, C.3
Bordo, L.4
Assereto, S.5
Gazzerro, E.6
Sotgia, F.7
Wang, X.B.8
Gianotti, S.9
Stringara, S.10
Pedemonte, M.11
Uziel, G.12
Rossi, A.13
Schenone, A.14
Tortori-Donati, P.15
Van Der, K.M.S.16
Lisanti, M.P.17
Minetti, C.18
-
187
-
-
49449098975
-
Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration
-
Zhang X, Chow CY, Sahenk Z, Shy ME, Meisler MH, Li J (2008). Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration. Brain 131:1990-2001.
-
(2008)
Brain
, vol.131
, pp. 1990-2001
-
-
Zhang, X.1
Chow, C.Y.2
Sahenk, Z.3
Shy, M.E.4
Meisler, M.H.5
Li, J.6
-
188
-
-
0347090624
-
The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy
-
DOI 10.1016/j.nmd.2003.10.003
-
Zuchner S, Vorgerd M, Sindern E, Schroder JM (2004). The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy. Neuromuscul Disord 14:147-157. (Pubitemid 38083324)
-
(2004)
Neuromuscular Disorders
, vol.14
, Issue.2
, pp. 147-157
-
-
Zuchner, S.1
Vorgerd, M.2
Sindern, E.3
Schroder, J.M.4
-
189
-
-
32044474896
-
Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2
-
DOI 10.1002/ana.20797
-
Zuchner S, De Jonghe P, Jordanova A, Claeys KG, Guergueltcheva V, Cherninkova S, Hamilton SR, Van Stavern G, Krajewski KM, Stajich J, Tournev I, Verhoeven K, Langerhorst CT, de Visser M, Baas F, Bird T, Timmerman V, Shy M, Vance JM (2006). Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2. Ann Neurol 59:276-281. (Pubitemid 43202480)
-
(2006)
Annals of Neurology
, vol.59
, Issue.2
, pp. 276-281
-
-
Zuchner, S.1
De Jonghe, P.2
Jordanova, A.3
Claeys, K.G.4
Guergueltcheva, V.5
Cherninkova, S.6
Hamilton, S.R.7
Van Stavern, G.8
Krajewski, K.M.9
Stajich, J.10
Tournev, I.11
Verhoeven, K.12
Langerhorst, C.T.13
De Visser, M.14
Baas, F.15
Bird, T.16
Timmerman, V.17
Shy, M.18
Vance, J.M.19
|