-
1
-
-
4644340813
-
Genes for peripheral neuropathy and their relevance to clinical practice
-
OCt
-
Donaghy M. Genes for peripheral neuropathy and their relevance to clinical practice. J Neurol Neurosurg Psychiatry 2004 Oct, 75(10):1371-1372.
-
(2004)
J Neurol Neurosurg Psychiatry
, vol.75
, Issue.10
, pp. 1371-1372
-
-
Donaghy, M.1
-
2
-
-
0020696474
-
The nosology of genetic peripheral neuropathies in Swedish children
-
Feb
-
Hagberg B., Westerberg B. The nosology of genetic peripheral neuropathies in Swedish children. Dev Med Child Neurol 1983 Feb, 25(1):3-18.
-
(1983)
Dev Med Child Neurol
, vol.25
, Issue.1
, pp. 3-18
-
-
Hagberg, B.1
Westerberg, B.2
-
3
-
-
0023700061
-
Chronic peripheral neuropathy in childhood: an overview
-
Ouvrier R.A., McLeod J.G. Chronic peripheral neuropathy in childhood: an overview. Aust Paediatr J 1988, 24(Suppl 1):80-82.
-
(1988)
Aust Paediatr J
, vol.24
, Issue.SUPPL. 1
, pp. 80-82
-
-
Ouvrier, R.A.1
McLeod, J.G.2
-
4
-
-
0038287953
-
Peripheral neuropathies of infancy
-
Jun
-
Wilmshurst J.M., Pollard J.D., Nicholson G., Antony J., Ouvrier R. Peripheral neuropathies of infancy. Dev Med Child Neurol 2003 Jun, 45(6):408-414.
-
(2003)
Dev Med Child Neurol
, vol.45
, Issue.6
, pp. 408-414
-
-
Wilmshurst, J.M.1
Pollard, J.D.2
Nicholson, G.3
Antony, J.4
Ouvrier, R.5
-
5
-
-
34248562588
-
Phenotype of Charcot-Marie-Tooth disease Type 2
-
May 15
-
Bienfait H.M., Baas F., Koelman J.H., de Haan R.J., van Engelen B.G., Gabreels-Festen A.A., et al. Phenotype of Charcot-Marie-Tooth disease Type 2. Neurology 2007 May 15, 68(20):1658-1667.
-
(2007)
Neurology
, vol.68
, Issue.20
, pp. 1658-1667
-
-
Bienfait, H.M.1
Baas, F.2
Koelman, J.H.3
de Haan, R.J.4
van Engelen, B.G.5
Gabreels-Festen, A.A.6
-
6
-
-
43749089366
-
-
Gene table of monogenic neuromuscular disorders (nuclear genome only) January 2008. Neuromuscul Disord 2008 Jan;18(1)
-
Gene table of monogenic neuromuscular disorders (nuclear genome only) Vol. 18 No. 1 January 2008. Neuromuscul Disord 2008 Jan;18(1):101-129.
-
, vol.18
, Issue.1
, pp. 101-129
-
-
-
7
-
-
0037211466
-
The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene
-
Jan
-
Chaouch M., Allal Y., De Sandre-Giovannoli A., Vallat J.M., Amer-el-Khedoud A., Kassouri N., et al. The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene. Neuromuscul Disord 2003 Jan, 13(1):60-67.
-
(2003)
Neuromuscul Disord
, vol.13
, Issue.1
, pp. 60-67
-
-
Chaouch, M.1
Allal, Y.2
De Sandre-Giovannoli, A.3
Vallat, J.M.4
Amer-el-Khedoud, A.5
Kassouri, N.6
-
8
-
-
0033027371
-
Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene
-
Jun
-
Chapon F., Latour P., Diraison P., Schaeffer S., Vandenberghe A. Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. J Neurol Neurosurg Psychiatry 1999 Jun, 66(6):779-782.
-
(1999)
J Neurol Neurosurg Psychiatry
, vol.66
, Issue.6
, pp. 779-782
-
-
Chapon, F.1
Latour, P.2
Diraison, P.3
Schaeffer, S.4
Vandenberghe, A.5
-
10
-
-
0029863589
-
Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study
-
Nelis E., Van Broeckhoven C., De Jonghe P., Lofgren A., Vandenberghe A., Latour P., et al. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Eur J Hum Genet 1996, 4(1):25-33.
-
(1996)
Eur J Hum Genet
, vol.4
, Issue.1
, pp. 25-33
-
-
Nelis, E.1
Van Broeckhoven, C.2
De Jonghe, P.3
Lofgren, A.4
Vandenberghe, A.5
Latour, P.6
-
11
-
-
0025997898
-
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a) The HMSN Collaborative Research Group
-
Raeymaekers P., Timmerman V., Nelis E., De Jonghe P., Hoogendijk J.E., Baas F., et al. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a) The HMSN Collaborative Research Group. Neuromuscul Disord 1991, 1(2):93-97.
-
(1991)
Neuromuscul Disord
, vol.1
, Issue.2
, pp. 93-97
-
-
Raeymaekers, P.1
Timmerman, V.2
Nelis, E.3
De Jonghe, P.4
Hoogendijk, J.E.5
Baas, F.6
-
12
-
-
0037739319
-
The peroneal atrophy syndrome
-
MacKeith Press, London, P. Procopis (Ed.)
-
Ouvrier R.A., McLeod J.G., Pollard J.D. The peroneal atrophy syndrome. Peripheral Neuropathy in Childhood 1999, 67-135. MacKeith Press, London. 2nd ed. P. Procopis (Ed.).
-
(1999)
Peripheral Neuropathy in Childhood
, pp. 67-135
-
-
Ouvrier, R.A.1
McLeod, J.G.2
Pollard, J.D.3
-
13
-
-
0033963592
-
Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy
-
Feb
-
Kamholz J., Menichella D., Jani A., Garbern J., Lewis R.A., Krajewski K.M., et al. Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy. Brain 2000 Feb, 123(Pt 2):222-233.
-
(2000)
Brain
, vol.123
, Issue.PART 2
, pp. 222-233
-
-
Kamholz, J.1
Menichella, D.2
Jani, A.3
Garbern, J.4
Lewis, R.A.5
Krajewski, K.M.6
-
14
-
-
0033921060
-
Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A
-
Jul
-
Krajewski K.M., Lewis R.A., Fuerst D.R., Turansky C., Hinderer S.R., Garbern J., et al. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain 2000 Jul, 123(Pt 7):1516-1527.
-
(2000)
Brain
, vol.123
, Issue.PART 7
, pp. 1516-1527
-
-
Krajewski, K.M.1
Lewis, R.A.2
Fuerst, D.R.3
Turansky, C.4
Hinderer, S.R.5
Garbern, J.6
-
15
-
-
17944374029
-
Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1
-
Sep
-
Grohmann K., Schuelke M., Diers A., Hoffmann K., Lucke B., Adams C., et al. Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1. Nat Genet 2001 Sep, 29(1):75-77.
-
(2001)
Nat Genet
, vol.29
, Issue.1
, pp. 75-77
-
-
Grohmann, K.1
Schuelke, M.2
Diers, A.3
Hoffmann, K.4
Lucke, B.5
Adams, C.6
-
16
-
-
0019519135
-
Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood
-
Aug
-
Ouvrier R.A., McLeod J.G., Morgan G.J., Wise G.A., Conchin T.E. Hereditary motor and sensory neuropathy of neuronal type with onset in early childhood. J Neurol Sci 1981 Aug, 51(2):181-197.
-
(1981)
J Neurol Sci
, vol.51
, Issue.2
, pp. 181-197
-
-
Ouvrier, R.A.1
McLeod, J.G.2
Morgan, G.J.3
Wise, G.A.4
Conchin, T.E.5
-
17
-
-
0035010811
-
Severe infantile axonal neuropathy with respiratory failure
-
Jun
-
Wilmshurst J.M., Bye A., Rittey C., Adams C., Hahn A.F., Ramsay D., et al. Severe infantile axonal neuropathy with respiratory failure. Muscle Nerve 2001 Jun, 24(6):760-768.
-
(2001)
Muscle Nerve
, vol.24
, Issue.6
, pp. 760-768
-
-
Wilmshurst, J.M.1
Bye, A.2
Rittey, C.3
Adams, C.4
Hahn, A.F.5
Ramsay, D.6
-
18
-
-
0036157054
-
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation
-
Feb
-
Boerkoel C.F., Takashima H., Garcia C.A., Olney R.K., Johnson J., Berry K., et al. Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. Ann Neurol 2002 Feb, 51(2):190-201.
-
(2002)
Ann Neurol
, 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
-
19
-
-
58149241066
-
Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations
-
Nov
-
Vallat J.M., Ouvrier R.A., Pollard J.D., Magdelaine C., Zhu D., Nicholson G.A., et al. Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations. J Neuropathol Exp Neurol 2008 Nov, 67(11):1097-1102.
-
(2008)
J Neuropathol Exp Neurol
, vol.67
, Issue.11
, pp. 1097-1102
-
-
Vallat, J.M.1
Ouvrier, R.A.2
Pollard, J.D.3
Magdelaine, C.4
Zhu, D.5
Nicholson, G.A.6
-
20
-
-
37349051369
-
Spinal deformities in hereditary motor and sensory neuropathy: a retrospective qualitative quantitative genotypical and familial analysis of 175 patients
-
Oct 15
-
Horacek O., Mazanec R., Morris C.E., Kobesova A. Spinal deformities in hereditary motor and sensory neuropathy: a retrospective qualitative quantitative genotypical and familial analysis of 175 patients. Spine Phila Pa (1976) 2007 Oct 15, 32(22):2502-2508.
-
(2007)
Spine Phila Pa (1976)
, vol.32
, Issue.22
, pp. 2502-2508
-
-
Horacek, O.1
Mazanec, R.2
Morris, C.E.3
Kobesova, A.4
-
21
-
-
33748309354
-
Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations
-
Aug 22
-
Azzedine H., Ravise N., Verny C., Gabreels-Festen A., Lammens M., Grid D., et al. Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations. Neurology 2006 Aug 22, 67(4):602-606.
-
(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
-
22
-
-
0037370894
-
Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease
-
Mar
-
Jordanova A., De Jonghe P., Boerkoel C.F., Takashima H., De Vriendt E., Ceuterick C., et al. Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease. Brain 2003 Mar, 126(Pt 3):590-597.
-
(2003)
Brain
, vol.126
, Issue.PART 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
-
23
-
-
70349941104
-
Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation
-
Oct
-
Rotthier A., Baets J., De Vriendt E., Jacobs A., Auer-Grumbach M., Levy N., et al. Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation. Brain 2009 Oct, 132(Pt 10):2699-2711.
-
(2009)
Brain
, vol.132
, Issue.PART 10
, pp. 2699-2711
-
-
Rotthier, A.1
Baets, J.2
De Vriendt, E.3
Jacobs, A.4
Auer-Grumbach, M.5
Levy, N.6
-
24
-
-
0032949034
-
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype
-
Feb
-
De Jonghe P., Timmerman V., Ceuterick C., Nelis E., De Vriendt E., Lofgren A., et al. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain 1999 Feb, 122(Pt 2):281-290.
-
(1999)
Brain
, vol.122
, Issue.PART 2
, pp. 281-290
-
-
De Jonghe, P.1
Timmerman, V.2
Ceuterick, C.3
Nelis, E.4
De Vriendt, E.5
Lofgren, A.6
-
25
-
-
33846601355
-
Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton
-
Feb
-
Fabrizi G.M., Cavallaro T., Angiari C., Cabrini I., Taioli F., Malerba G., et al. Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton. Brain 2007 Feb, 130(Pt 2):394-403.
-
(2007)
Brain
, vol.130
, Issue.PART 2
, pp. 394-403
-
-
Fabrizi, G.M.1
Cavallaro, T.2
Angiari, C.3
Cabrini, I.4
Taioli, F.5
Malerba, G.6
-
26
-
-
52649104883
-
NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1
-
Shin J.S., Chung K.W., Cho S.Y., Yun J., Hwang S.J., Kang S.H., et al. NEFL Pro22Arg mutation in Charcot-Marie-Tooth disease type 1. J Hum Genet 2008, 53(10):936-940.
-
(2008)
J Hum Genet
, vol.53
, Issue.10
, pp. 936-940
-
-
Shin, J.S.1
Chung, K.W.2
Cho, S.Y.3
Yun, J.4
Hwang, S.J.5
Kang, S.H.6
-
27
-
-
77952959682
-
Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies
-
Jun
-
Zimon M., Baets J., Auer-Grumbach M., Berciano J., Garcia A., Lopez-Laso E., et al. Dominant mutations in the cation channel gene transient receptor potential vanilloid 4 cause an unusual spectrum of neuropathies. Brain 2010 Jun, 133(Pt 6):1798-1809.
-
(2010)
Brain
, vol.133
, Issue.PART 6
, pp. 1798-1809
-
-
Zimon, M.1
Baets, J.2
Auer-Grumbach, M.3
Berciano, J.4
Garcia, A.5
Lopez-Laso, E.6
-
28
-
-
55749093730
-
Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy
-
Nov
-
Sevilla T., Jaijo T., Nauffal D., Collado D., Chumillas M.J., Vilchez J.J., et al. Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy. Brain 2008 Nov, 131(Pt 11):3051-3061.
-
(2008)
Brain
, vol.131
, Issue.PART 11
, pp. 3051-3061
-
-
Sevilla, T.1
Jaijo, T.2
Nauffal, D.3
Collado, D.4
Chumillas, M.J.5
Vilchez, J.J.6
-
29
-
-
35449001032
-
Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations
-
Nov
-
Szigeti K., Wiszniewski W., Saifi G.M., Sherman D.L., Sule N., Adesina A.M., et al. Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations. Neurogenetics 2007 Nov, 8(4):257-262.
-
(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
-
30
-
-
33745256043
-
Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease
-
Dubourg O., Azzedine H., Verny C., Durosier G., Birouk N., Gouider R., et al. Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease. Neuromolecular Med 2006, 8(1-2):75-86.
-
(2006)
Neuromolecular Med
, vol.8
, Issue.1-2
, pp. 75-86
-
-
Dubourg, O.1
Azzedine, H.2
Verny, C.3
Durosier, G.4
Birouk, N.5
Gouider, R.6
-
31
-
-
0038067742
-
Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V
-
May
-
Antonellis A., Ellsworth R.E., Sambuughin N., Puls I., Abel A., Lee-Lin S.Q., et al. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet 2003 May, 72(5):1293-1299.
-
(2003)
Am J Hum Genet
, vol.72
, Issue.5
, pp. 1293-1299
-
-
Antonellis, A.1
Ellsworth, R.E.2
Sambuughin, N.3
Puls, I.4
Abel, A.5
Lee-Lin, S.Q.6
-
32
-
-
33745261763
-
Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease
-
Zuchner S., Vance J.M. Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease. Neuromolecular Med 2006, 8(1-2):63-74.
-
(2006)
Neuromolecular Med
, vol.8
, Issue.1-2
, pp. 63-74
-
-
Zuchner, S.1
Vance, J.M.2
-
33
-
-
43149114957
-
Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations
-
May 6
-
Nicholson G.A., Magdelaine C., Zhu D., Grew S., Ryan M.M., Sturtz F., et al. Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations. Neurology 2008 May 6, 70(19):1678-1681.
-
(2008)
Neurology
, vol.70
, Issue.19
, pp. 1678-1681
-
-
Nicholson, G.A.1
Magdelaine, C.2
Zhu, D.3
Grew, S.4
Ryan, M.M.5
Sturtz, F.6
-
34
-
-
0029118373
-
A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26
-
Sep 20
-
Priest J.M., Fischbeck K.H., Nouri N., Keats B.J. A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26. Genomics 1995 Sep 20, 29(2):409-412.
-
(1995)
Genomics
, vol.29
, Issue.2
, pp. 409-412
-
-
Priest, J.M.1
Fischbeck, K.H.2
Nouri, N.3
Keats, B.J.4
-
35
-
-
0014126228
-
Familial opticoacoustic nerve degeneration and polyneuropathy
-
Sep
-
Rosenberg R.N., Chutorian A. Familial opticoacoustic nerve degeneration and polyneuropathy. Neurology 1967 Sep, 17(9):827-832.
-
(1967)
Neurology
, vol.17
, Issue.9
, pp. 827-832
-
-
Rosenberg, R.N.1
Chutorian, A.2
-
36
-
-
67650066361
-
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy
-
Jul
-
Claeys K.G., Zuchner S., Kennerson M., Berciano J., Mazzeo L., Garcia A., et al. Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. Brain 2009 Jul, 132(Pt 7):1741-1752.
-
(2009)
Brain
, vol.132
, Issue.PART 7
, pp. 1741-1752
-
-
Claeys, K.G.1
Zuchner, S.2
Kennerson, M.3
Berciano, J.4
Mazzeo, L.5
Garcia, A.6
-
37
-
-
0005088348
-
A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness
-
Jun
-
Kovach M.J., Lin J.P., Boyadjiev S., Campbell K., Mazzeo L., Herman K., et al. A unique point mutation in the PMP22 gene is associated with Charcot-Marie-Tooth disease and deafness. Am J Hum Genet 1999 Jun, 64(6):1580-1593.
-
(1999)
Am J Hum Genet
, vol.64
, Issue.6
, pp. 1580-1593
-
-
Kovach, M.J.1
Lin, J.P.2
Boyadjiev, S.3
Campbell, K.4
Mazzeo, L.5
Herman, K.6
-
38
-
-
34547666602
-
Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood
-
Aug
-
Ouvrier R., Geevasingha N., Ryan M.M. Autosomal-recessive and X-linked forms of hereditary motor and sensory neuropathy in childhood. Muscle Nerve 2007 Aug, 36(2):131-143.
-
(2007)
Muscle Nerve
, vol.36
, Issue.2
, pp. 131-143
-
-
Ouvrier, R.1
Geevasingha, N.2
Ryan, M.M.3
-
39
-
-
33745242329
-
Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies
-
Bernard R., De Sandre-Giovannoli A., Delague V., Levy N. Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies. Neuromolecular Med 2006, 8(1-2):87-106.
-
(2006)
Neuromolecular Med
, vol.8
, Issue.1-2
, pp. 87-106
-
-
Bernard, R.1
De Sandre-Giovannoli, A.2
Delague, V.3
Levy, N.4
-
40
-
-
33745235798
-
Unraveling the genetics of distal hereditary motor neuronopathies
-
Irobi J., Dierick I., Jordanova A., Claeys K.G., De Jonghe P., Timmerman V. Unraveling the genetics of distal hereditary motor neuronopathies. Neuromolecular Med 2006, 8(1-2):131-146.
-
(2006)
Neuromolecular Med
, vol.8
, Issue.1-2
, pp. 131-146
-
-
Irobi, J.1
Dierick, I.2
Jordanova, A.3
Claeys, K.G.4
De Jonghe, P.5
Timmerman, V.6
-
41
-
-
33745256219
-
Molecular genetics of hereditary sensory neuropathies
-
Auer-Grumbach M., Mauko B., Auer-Grumbach P., Pieber T.R. Molecular genetics of hereditary sensory neuropathies. Neuromolecular Med 2006, 8(1-2):147-158.
-
(2006)
Neuromolecular Med
, vol.8
, Issue.1-2
, pp. 147-158
-
-
Auer-Grumbach, M.1
Mauko, B.2
Auer-Grumbach, P.3
Pieber, T.R.4
-
42
-
-
0029656217
-
The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q
-
Jan
-
Casaubon L.K., Melanson M., Lopes-Cendes I., Marineau C., Andermann E., Andermann F., et al. The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q. Am J Hum Genet 1996 Jan, 58(1):28-34.
-
(1996)
Am J Hum Genet
, vol.58
, Issue.1
, pp. 28-34
-
-
Casaubon, L.K.1
Melanson, M.2
Lopes-Cendes, I.3
Marineau, C.4
Andermann, E.5
Andermann, F.6
-
43
-
-
35748964156
-
New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy
-
Nov
-
Houlden H., Groves M., Miedzybrodzka Z., Roper H., Willis T., Winer J., et al. New mutations, genotype phenotype studies and manifesting carriers in giant axonal neuropathy. J Neurol Neurosurg Psychiatry 2007 Nov, 78(11):1267-1270.
-
(2007)
J Neurol Neurosurg Psychiatry
, vol.78
, Issue.11
, pp. 1267-1270
-
-
Houlden, H.1
Groves, M.2
Miedzybrodzka, Z.3
Roper, H.4
Willis, T.5
Winer, J.6
-
44
-
-
78649552868
-
Early-onet Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement
-
JNNP
-
Chung KW, Suh BC, Cho SK, Kang SH, Yoo JH, Hwang JY, et al. Early-onet Charcot-Marie-Tooth patients with mitofusin 2 mutations and brain involvement. JNNP 2010.
-
(2010)
-
-
Chung, K.W.1
Suh, B.C.2
Cho, S.K.3
Kang, S.H.4
Yoo, J.H.5
Hwang, J.Y.6
-
45
-
-
34547899147
-
X-linked Charcot-Marie-Tooth disease (CMTX) in a severely affected female patient with scattered lesions in cerebral white matter
-
Basri R., Yabe I., Soma H., Matsushima M., Tsuji S., Sasaki H. X-linked Charcot-Marie-Tooth disease (CMTX) in a severely affected female patient with scattered lesions in cerebral white matter. Intern Med 2007, 46(13):1023-1027.
-
(2007)
Intern Med
, vol.46
, Issue.13
, pp. 1023-1027
-
-
Basri, R.1
Yabe, I.2
Soma, H.3
Matsushima, M.4
Tsuji, S.5
Sasaki, H.6
-
46
-
-
33646114526
-
Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome
-
Apr 11
-
Uyanik G., Elcioglu N., Penzien J., Gross C., Yilmaz Y., Olmez A., et al. Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome. Neurology 2006 Apr 11, 66(7):1044-1048.
-
(2006)
Neurology
, vol.66
, Issue.7
, pp. 1044-1048
-
-
Uyanik, G.1
Elcioglu, N.2
Penzien, J.3
Gross, C.4
Yilmaz, Y.5
Olmez, A.6
-
47
-
-
0032569930
-
Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15
-
Nov 26
-
Sambuughin N., Sivakumar K., Selenge B., Lee H.S., Friedlich D., Baasanjav D., et al. Autosomal dominant distal spinal muscular atrophy type V (dSMA-V) and Charcot-Marie-Tooth disease type 2D (CMT2D) segregate within a single large kindred and map to a refined region on chromosome 7p15. J Neurol Sci 1998 Nov 26, 161(1):23-28.
-
(1998)
J Neurol Sci
, vol.161
, Issue.1
, pp. 23-28
-
-
Sambuughin, N.1
Sivakumar, K.2
Selenge, B.3
Lee, H.S.4
Friedlich, D.5
Baasanjav, D.6
-
48
-
-
0033911099
-
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene
-
Jul
-
Mersiyanova I.V., Perepelov A.V., Polyakov A.V., Sitnikov V.F., Dadali E.L., Oparin R.B., et al. A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene. Am J Hum Genet 2000 Jul, 67(1):37-46.
-
(2000)
Am J Hum Genet
, 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
-
49
-
-
33745250497
-
Intermediate forms of Charcot-Marie-Tooth neuropathy: a review
-
Nicholson G., Myers S. Intermediate forms of Charcot-Marie-Tooth neuropathy: a review. Neuromolecular Med 2006, 8(1-2):123-130.
-
(2006)
Neuromolecular Med
, vol.8
, Issue.1-2
, pp. 123-130
-
-
Nicholson, G.1
Myers, S.2
-
50
-
-
33745278558
-
Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease
-
Pareyson D., Scaioli V., Laura M. Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease. Neuromolecular Med 2006, 8(1-2):3-22.
-
(2006)
Neuromolecular Med
, vol.8
, Issue.1-2
, pp. 3-22
-
-
Pareyson, D.1
Scaioli, V.2
Laura, M.3
-
51
-
-
77953067993
-
Diagnostic value of muscle, sural nerve and skin biopsies in childhood neuromuscular disorders
-
Dec
-
Chang X.Z., Zhou J.Y., Yuan Y., Wu Y., Li Y.X., Zhang W., et al. Diagnostic value of muscle, sural nerve and skin biopsies in childhood neuromuscular disorders. Zhonghua Er Ke Za Zhi 2006 Dec, 44(12):909-912.
-
(2006)
Zhonghua Er Ke Za Zhi
, vol.44
, Issue.12
, pp. 909-912
-
-
Chang, X.Z.1
Zhou, J.Y.2
Yuan, Y.3
Wu, Y.4
Li, Y.X.5
Zhang, W.6
-
52
-
-
33644539524
-
Feasibility and cost efficiency of a diagnostic guideline for chronic polyneuropathy: a prospective implementation study
-
Mar
-
Vrancken A.F., Kalmijn S., Buskens E., Franssen H., Vermeulen M., Wokke J.H., et al. Feasibility and cost efficiency of a diagnostic guideline for chronic polyneuropathy: a prospective implementation study. J Neurol Neurosurg Psychiatry 2006 Mar, 77(3):397-401.
-
(2006)
J Neurol Neurosurg Psychiatry
, vol.77
, Issue.3
, pp. 397-401
-
-
Vrancken, A.F.1
Kalmijn, S.2
Buskens, E.3
Franssen, H.4
Vermeulen, M.5
Wokke, J.H.6
-
53
-
-
35748969300
-
Complications following sural and peroneal nerve biopsies
-
Nov
-
Hilton D.A., Jacob J., Househam L., Tengah C. Complications following sural and peroneal nerve biopsies. J Neurol Neurosurg Psychiatry 2007 Nov, 78(11):1271-1272.
-
(2007)
J Neurol Neurosurg Psychiatry
, vol.78
, Issue.11
, pp. 1271-1272
-
-
Hilton, D.A.1
Jacob, J.2
Househam, L.3
Tengah, C.4
-
54
-
-
48549088834
-
Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A
-
Aug
-
Chung K.W., Suh B.C., Shy M.E., Cho S.Y., Yoo J.H., Park S.W., et al. Different clinical and magnetic resonance imaging features between Charcot-Marie-Tooth disease type 1A and 2A. Neuromuscul Disord 2008 Aug, 18(8):610-618.
-
(2008)
Neuromuscul Disord
, vol.18
, Issue.8
, pp. 610-618
-
-
Chung, K.W.1
Suh, B.C.2
Shy, M.E.3
Cho, S.Y.4
Yoo, J.H.5
Park, S.W.6
-
55
-
-
0033730471
-
MR imaging of the cauda equina in hereditary motor sensory neuropathies: correlations with sural nerve biopsy
-
Cellerini M., Salti S., Desideri V., Marconi G. MR imaging of the cauda equina in hereditary motor sensory neuropathies: correlations with sural nerve biopsy. AJNR Am J Neuroradiol 2000 Nov-Dec, 21(10):1793-1798.
-
AJNR Am J Neuroradiol
-
-
Cellerini, M.1
Salti, S.2
Desideri, V.3
Marconi, G.4
|