-
1
-
-
84971620898
-
-
Personal data.
-
Ananth, U., Athena Diagnostics Inc. 1999. Personal data. http://www.molgen.ua.ac.be/cmtmutations/Mutations/Mutations.cfm
-
(1999)
Athena Diagnostics Inc.
-
-
Ananth, U.1
-
2
-
-
0345231641
-
Observations on hypertrophic neuropathy of Dejerine and Sottas
-
Andermann, F., D. L. Lloyd-Smith, H. Mavor, and G. Mathieson . 1962. Observations on hypertrophic neuropathy of Dejerine and Sottas. Neurology 12:712-724.
-
(1962)
Neurology
, vol.12
, pp. 712-724
-
-
Andermann, F.1
Lloyd-Smith, D.L.2
Mavor, H.3
Mathieson, G.4
-
3
-
-
84870782431
-
Molecular genetics of charcot-marie-tooth disease: from genes to genomes
-
Azzedine, H., J. Senderek, C. Rivolta, and R. Chrast . 2012. Molecular genetics of charcot-marie-tooth disease: from genes to genomes. Mol. Syndromol. 3:204-214.
-
(2012)
Mol. Syndromol.
, vol.3
, pp. 204-214
-
-
Azzedine, H.1
Senderek, J.2
Rivolta, C.3
Chrast, R.4
-
4
-
-
77951254877
-
Fatigue, reduced sleep quality and restless legs syndrome in Charcot-Marie-Tooth disease: a web-based survey
-
Boentert, M., R. Dziewas, A. Heidbreder, S. Happe, I. Kleffner, S. Evers, et al. 2010. Fatigue, reduced sleep quality and restless legs syndrome in Charcot-Marie-Tooth disease: a web-based survey. J. Neurol. 257:646-652.
-
(2010)
J. Neurol.
, vol.257
, pp. 646-652
-
-
Boentert, M.1
Dziewas, R.2
Heidbreder, A.3
Happe, S.4
Kleffner, I.5
Evers, S.6
-
5
-
-
84896701892
-
Sleep disorders in Charcot-Marie-Tooth disease type 1
-
Boentert, M., K. Knop, C. Schuhmacher, B. Gess, A. Okegwo, and P. Young . 2014. Sleep disorders in Charcot-Marie-Tooth disease type 1. J. Neurol. Neurosurg. Psychiatry 85:319-325.
-
(2014)
J. Neurol. Neurosurg. Psychiatry
, vol.85
, pp. 319-325
-
-
Boentert, M.1
Knop, K.2
Schuhmacher, C.3
Gess, B.4
Okegwo, A.5
Young, P.6
-
6
-
-
0030919434
-
Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies
-
Bort, S., E. Nelis, V. Timmerman, T. Sevilla, A. Cruz-Martinez, F. Martinez, et al. 1997. Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies. Hum. Genet. 99:746-754.
-
(1997)
Hum. Genet.
, vol.99
, pp. 746-754
-
-
Bort, S.1
Nelis, E.2
Timmerman, V.3
Sevilla, T.4
Cruz-Martinez, A.5
Martinez, F.6
-
7
-
-
84855171766
-
INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy
-
Boyer, O., F. Nevo, E. Plaisier, B. Funalot, O. Gribouval, G. Benoit, et al. 2011. INF2 mutations in Charcot-Marie-Tooth disease with glomerulopathy. N. Engl. J. Med. 365:2377-2388.
-
(2011)
N. Engl. J. Med.
, vol.365
, pp. 2377-2388
-
-
Boyer, O.1
Nevo, F.2
Plaisier, E.3
Funalot, B.4
Gribouval, O.5
Benoit, G.6
-
8
-
-
0033541102
-
Compression of spinal cord and cauda equina in Charcot-Marie-Tooth disease type 1A
-
Butefisch, C., L. Gutmann, and L. Gutmann . 1999. Compression of spinal cord and cauda equina in Charcot-Marie-Tooth disease type 1A. Neurology 52:890-891.
-
(1999)
Neurology
, vol.52
, pp. 890-891
-
-
Butefisch, C.1
Gutmann, L.2
Gutmann, L.3
-
9
-
-
0033730471
-
MR imaging of the cauda equina in hereditary motor sensory neuropathies: correlations with sural nerve biopsy
-
Cellerini, M., S. Salti, V. Desideri, and G. Marconi . 2000. MR imaging of the cauda equina in hereditary motor sensory neuropathies: correlations with sural nerve biopsy. AJNR Am. J. Neuroradiol. 21:1793-1798.
-
(2000)
AJNR Am. J. Neuroradiol.
, vol.21
, pp. 1793-1798
-
-
Cellerini, M.1
Salti, S.2
Desideri, V.3
Marconi, G.4
-
10
-
-
0027509953
-
DNA deletion associated with hereditary neuropathy with liability to pressure palsies
-
Chance, P. F., M. K. Alderson, K. A. Leppig, M. W. Lensch, N. Matsunami, B. Smith, et al. 1993. DNA deletion associated with hereditary neuropathy with liability to pressure palsies. Cell 72:143-151.
-
(1993)
Cell
, vol.72
, 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
-
11
-
-
33747872317
-
Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations
-
Chung, K. W., S. B. Kim, K. D. Park, K. G. Choi, J. H. Lee, H. W. Eun, et al. 2006. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain 129:2103-2118.
-
(2006)
Brain
, vol.129
, pp. 2103-2118
-
-
Chung, K.W.1
Kim, S.B.2
Park, K.D.3
Choi, K.G.4
Lee, J.H.5
Eun, H.W.6
-
12
-
-
0018222952
-
The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification
-
Davis, C. J., W. G. Bradley, and R. Madrid . 1978. The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification. J. Genet. Hum. 26:311-349.
-
(1978)
J. Genet. Hum.
, vol.26
, pp. 311-349
-
-
Davis, C.J.1
Bradley, W.G.2
Madrid, R.3
-
13
-
-
0032949034
-
The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype
-
De Jonghe, P., V. Timmerman, C. Ceuterick, E. Nelis, E. De Vriendt, A. Lofgren, et al. 1999. The Thr124Met mutation in the peripheral myelin protein zero (MPZ) gene is associated with a clinically distinct Charcot-Marie-Tooth phenotype. Brain 122(Pt 2):281-290.
-
(1999)
Brain
, vol.122
, pp. 281-290
-
-
De Jonghe, P.1
Timmerman, V.2
Ceuterick, C.3
Nelis, E.4
De Vriendt, E.5
Lofgren, A.6
-
14
-
-
2642510733
-
Clinical and genetic description of a family with Charcot-Marie-Tooth disease type 1B from a transmembrane MPZ mutation
-
Eggers, S. D., S. C. Keswani, G. Melli, and D. R. Cornblath . 2004. Clinical and genetic description of a family with Charcot-Marie-Tooth disease type 1B from a transmembrane MPZ mutation. Muscle Nerve 29:867-869.
-
(2004)
Muscle Nerve
, vol.29
, pp. 867-869
-
-
Eggers, S.D.1
Keswani, S.C.2
Melli, G.3
Cornblath, D.R.4
-
15
-
-
33644982296
-
Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B
-
Fabrizi, G. M., M. Pellegrini, C. Angiari, T. Cavallaro, A. Morini, F. Taioli, et al. 2006. Gene dosage sensitivity of a novel mutation in the intracellular domain of P0 associated with Charcot-Marie-Tooth disease type 1B. Neuromuscul. Disord. 16:183-187.
-
(2006)
Neuromuscul. Disord.
, vol.16
, pp. 183-187
-
-
Fabrizi, G.M.1
Pellegrini, M.2
Angiari, C.3
Cavallaro, T.4
Morini, A.5
Taioli, F.6
-
16
-
-
0041114444
-
Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease
-
Gabreels-Festen, A. A., J. E. Hoogendijk, P. H. Meijerink, F. J. Gabreels, P. A. Bolhuis, S. van Beersum, et al. 1996. Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease. Neurology 47:761-765.
-
(1996)
Neurology
, vol.47
, pp. 761-765
-
-
Gabreels-Festen, A.A.1
Hoogendijk, J.E.2
Meijerink, P.H.3
Gabreels, F.J.4
Bolhuis, P.A.5
van Beersum, S.6
-
17
-
-
70349257316
-
Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF
-
Gerding, W. M., J. Koetting, J. T. Epplen, and C. Neusch . 2009. Hereditary motor and sensory neuropathy caused by a novel mutation in LITAF. Neuromuscul. Disord. 19:701-703.
-
(2009)
Neuromuscul. Disord.
, vol.19
, pp. 701-703
-
-
Gerding, W.M.1
Koetting, J.2
Epplen, J.T.3
Neusch, C.4
-
18
-
-
0029133630
-
Chronic inflammatory demyelinating polyneuropathy mimicking a lumbar spinal stenosis syndrome
-
Ginsberg, L., A. D. Platts, and P. K. Thomas . 1995. Chronic inflammatory demyelinating polyneuropathy mimicking a lumbar spinal stenosis syndrome. J. Neurol. Neurosurg. Psychiatry 59:189-191.
-
(1995)
J. Neurol. Neurosurg. Psychiatry
, vol.59
, pp. 189-191
-
-
Ginsberg, L.1
Platts, A.D.2
Thomas, P.K.3
-
19
-
-
0018942439
-
The clinical features of hereditary motor and sensory neuropathy types I and II
-
Harding, A. E., and P. K. Thomas . 1980. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 103:259-280.
-
(1980)
Brain
, vol.103
, pp. 259-280
-
-
Harding, A.E.1
Thomas, P.K.2
-
20
-
-
64049099112
-
Is there a higher risk of restless legs syndrome in peripheral neuropathy?
-
Hattan, E., C. Chalk, and R. B. Postuma . 2009. Is there a higher risk of restless legs syndrome in peripheral neuropathy? Neurology 72:955-960.
-
(2009)
Neurology
, vol.72
, pp. 955-960
-
-
Hattan, E.1
Chalk, C.2
Postuma, R.B.3
-
21
-
-
0037224513
-
Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients
-
Hattori, N., M. Yamamoto, T. Yoshihara, H. Koike, M. Nakagawa, H. Yoshikawa, et al. 2003. Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. Brain 126:134-151.
-
(2003)
Brain
, vol.126
, pp. 134-151
-
-
Hattori, N.1
Yamamoto, M.2
Yoshihara, T.3
Koike, H.4
Nakagawa, M.5
Yoshikawa, H.6
-
22
-
-
0028843437
-
Evidence of peripheral axonal neuropathy in primary restless legs syndrome
-
Iannaccone, S., M. Zucconi, P. Marchettini, L. Ferini-Strambi, R. Nemni, A. Quattrini, et al. 1995. Evidence of peripheral axonal neuropathy in primary restless legs syndrome. Mov. Disord. 10:2-9.
-
(1995)
Mov. Disord.
, vol.10
, pp. 2-9
-
-
Iannaccone, S.1
Zucconi, M.2
Marchettini, P.3
Ferini-Strambi, L.4
Nemni, R.5
Quattrini, A.6
-
23
-
-
0036728771
-
Conus medulla-cauda compression from nerve root hypertrophy in a child with Dejerine-Sottas syndrome: improvement with laminectomy and duraplasty. Case report
-
Kleopa, K. A., L. N. Sutton, J. Ong, G. Tennekoon, and A. E. Telfeian . 2002. Conus medulla-cauda compression from nerve root hypertrophy in a child with Dejerine-Sottas syndrome: improvement with laminectomy and duraplasty. Case report. J. Neurosurg. 97:244-247.
-
(2002)
J. Neurosurg.
, vol.97
, pp. 244-247
-
-
Kleopa, K.A.1
Sutton, L.N.2
Ong, J.3
Tennekoon, G.4
Telfeian, A.E.5
-
24
-
-
0025868571
-
DNA duplication associated with Charcot-Marie-Tooth disease type 1A
-
Lupski, J. R., R. M. de Oca-Luna, S. Slaugenhaupt, L. Pentao, V. Guzzetta, B. J. Trask, et al. 1991. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66:219-232.
-
(1991)
Cell
, vol.66
, 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
-
25
-
-
84891909505
-
De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy
-
Mademan, I., T. Deconinck, A. Dinopoulos, T. Voit, U. Schara, K. Devriendt, et al. 2013. De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy. Neurology 81:1953-1958.
-
(2013)
Neurology
, vol.81
, pp. 1953-1958
-
-
Mademan, I.1
Deconinck, T.2
Dinopoulos, A.3
Voit, T.4
Schara, U.5
Devriendt, K.6
-
26
-
-
70449523689
-
Myelin protein zero Val102 fs mutation manifesting with isolated spinal root hypertrophy
-
Marchini, C., S. Z. Marsala, M. Bendini, F. Taioli, G. Damante, I. R. Lonigro, et al. 2009. Myelin protein zero Val102 fs mutation manifesting with isolated spinal root hypertrophy. Neuromuscul. Disord. 19:849-852.
-
(2009)
Neuromuscul. Disord.
, vol.19
, pp. 849-852
-
-
Marchini, C.1
Marsala, S.Z.2
Bendini, M.3
Taioli, F.4
Damante, G.5
Lonigro, I.R.6
-
27
-
-
0033911099
-
A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene
-
Mersiyanova, I. V., A. V. Perepelov, A. V. Polyakov, V. F. Sitnikov, E. L. Dadali, R. B. Oparin, et al. 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.
-
(2000)
Am. J. Hum. Genet.
, vol.67
, 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
-
28
-
-
80055011529
-
Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease
-
Murphy, S. M., D. N. Herrmann, M. P. McDermott, S. S. Scherer, M. E. Shy, M. M. Reilly, et al. 2011. Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease. J. Peripher. Nerv. Syst. 16:191-198.
-
(2011)
J. Peripher. Nerv. Syst.
, vol.16
, pp. 191-198
-
-
Murphy, S.M.1
Herrmann, D.N.2
McDermott, M.P.3
Scherer, S.S.4
Shy, M.E.5
Reilly, M.M.6
-
29
-
-
0036415895
-
Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations
-
Numakura, C., C. Lin, T. Ikegami, P. Guldberg, and K. Hayasaka . 2002. Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations. Hum. Mutat. 20:392-398.
-
(2002)
Hum. Mutat.
, vol.20
, pp. 392-398
-
-
Numakura, C.1
Lin, C.2
Ikegami, T.3
Guldberg, P.4
Hayasaka, K.5
-
30
-
-
84899445196
-
PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies
-
van Paassen, B. W., A. J. van der Kooi, K. Y. van Spaendonck-Zwarts, C. Verhamme, F. Baas, and M. de Visser . 2014. PMP22 related neuropathies: Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies. Orphanet J. Rare Dis. 9:38.
-
(2014)
Orphanet J. Rare Dis.
, vol.9
, pp. 38
-
-
van Paassen, B.W.1
van der Kooi, A.J.2
van Spaendonck-Zwarts, K.Y.3
Verhamme, C.4
Baas, F.5
de Visser, M.6
-
31
-
-
0025997898
-
Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group
-
Raeymaekers, P., V. Timmerman, E. Nelis, P. De Jonghe, J. E. Hoogendijk, F. Baas, et al. 1991. Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group. Neuromuscul. Disord. 1:93-97.
-
(1991)
Neuromuscul. Disord.
, vol.1
, pp. 93-97
-
-
Raeymaekers, P.1
Timmerman, V.2
Nelis, E.3
De Jonghe, P.4
Hoogendijk, J.E.5
Baas, F.6
-
32
-
-
84930971768
-
Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons
-
Roos, A., J. Weis, R. Korinthenberg, H. Fehrenbach, M. Hausler, S. Zuchner, et al. 2015. Inverted formin 2-related Charcot-Marie-Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons. J. Peripher. Nerv. Syst. 20:52-59.
-
(2015)
J. Peripher. Nerv. Syst.
, vol.20
, pp. 52-59
-
-
Roos, A.1
Weis, J.2
Korinthenberg, R.3
Fehrenbach, H.4
Hausler, M.5
Zuchner, S.6
-
33
-
-
84885668385
-
Clinical implications of genetic advances in Charcot-Marie-Tooth disease
-
Rossor, A. M., J. M. Polke, H. Houlden, and M. M. Reilly . 2013. Clinical implications of genetic advances in Charcot-Marie-Tooth disease. Nat. Rev. Neurol. 9:562-571.
-
(2013)
Nat. Rev. Neurol.
, vol.9
, pp. 562-571
-
-
Rossor, A.M.1
Polke, J.M.2
Houlden, H.3
Reilly, M.M.4
-
34
-
-
0034646434
-
Prevalence and risk factors of RLS in an elderly population: the MEMO study. Memory and morbidity in Augsburg elderly
-
Rothdach, A. J., C. Trenkwalder, J. Haberstock, U. Keil, and K. Berger . 2000. Prevalence and risk factors of RLS in an elderly population: the MEMO study. Memory and morbidity in Augsburg elderly. Neurology 54:1064-1068.
-
(2000)
Neurology
, vol.54
, pp. 1064-1068
-
-
Rothdach, A.J.1
Trenkwalder, C.2
Haberstock, J.3
Keil, U.4
Berger, K.5
-
36
-
-
0036037752
-
Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0
-
Simonati, A., G. M. Fabrizi, F. Taioli, A. Polo, R. Cerini, and N. Rizzuto . 2002. Dejerine-Sottas neuropathy with multiple nerve roots enlargement and hypomyelination associated with a missense mutation of the transmembrane domain of MPZ/P0. J. Neurol. 249:1298-1302.
-
(2002)
J. Neurol.
, vol.249
, pp. 1298-1302
-
-
Simonati, A.1
Fabrizi, G.M.2
Taioli, F.3
Polo, A.4
Cerini, R.5
Rizzuto, N.6
-
37
-
-
0016266593
-
Genetic and clinical aspects of Charcot-Marie-Tooth's disease
-
Skre, H. 1974. Genetic and clinical aspects of Charcot-Marie-Tooth's disease. Clin. Genet. 6:98-118.
-
(1974)
Clin. Genet.
, vol.6
, pp. 98-118
-
-
Skre, H.1
-
38
-
-
0042426092
-
Autonomic and respiratory dysfunction in Charcot-Marie-Tooth disease due to Thr124Met mutation in the myelin protein zero gene
-
Stojkovic, T., J. de Seze, O. Dubourg, M. C. Arne-Bes, S. Tardieu, J. C. Hache, et al. 2003. Autonomic and respiratory dysfunction in Charcot-Marie-Tooth disease due to Thr124Met mutation in the myelin protein zero gene. Clin. Neurophysiol. 114:1609-1614.
-
(2003)
Clin. Neurophysiol.
, vol.114
, pp. 1609-1614
-
-
Stojkovic, T.1
de Seze, J.2
Dubourg, O.3
Arne-Bes, M.C.4
Tardieu, S.5
Hache, J.C.6
-
39
-
-
0036788765
-
Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes
-
Street, V. A., G. Meekins, H. P. Lipe, W. K. Seltzer, G. T. Carter, G. H. Kraft, et al. 2002. Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes. Neuromuscul. Disord. 12:643-650.
-
(2002)
Neuromuscul. Disord.
, vol.12
, pp. 643-650
-
-
Street, V.A.1
Meekins, G.2
Lipe, H.P.3
Seltzer, W.K.4
Carter, G.T.5
Kraft, G.H.6
-
40
-
-
84886088260
-
Ultrasonographic nerve enlargement of the median and ulnar nerves and the cervical nerve roots in patients with demyelinating Charcot-Marie-Tooth disease: distinction from patients with chronic inflammatory demyelinating polyneuropathy
-
Sugimoto, T., K. Ochi, N. Hosomi, T. Takahashi, H. Ueno, T. Nakamura, et al. 2013. Ultrasonographic nerve enlargement of the median and ulnar nerves and the cervical nerve roots in patients with demyelinating Charcot-Marie-Tooth disease: distinction from patients with chronic inflammatory demyelinating polyneuropathy. J. Neurol. 260:2580-2587.
-
(2013)
J. Neurol.
, vol.260
, pp. 2580-2587
-
-
Sugimoto, T.1
Ochi, K.2
Hosomi, N.3
Takahashi, T.4
Ueno, H.5
Nakamura, T.6
-
41
-
-
0004664282
-
Spinal cord compression in hypertrophic neuritis
-
Symonds, C. P., and W. Blackwood . 1962. Spinal cord compression in hypertrophic neuritis. Brain 85:251-260.
-
(1962)
Brain
, vol.85
, pp. 251-260
-
-
Symonds, C.P.1
Blackwood, W.2
-
42
-
-
84879798017
-
Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias
-
Timmerman, V., V. E. Clowes, and E. Reid . 2013. Overlapping molecular pathological themes link Charcot-Marie-Tooth neuropathies and hereditary spastic paraplegias. Exp. Neurol. 246:14-25.
-
(2013)
Exp. Neurol.
, vol.246
, pp. 14-25
-
-
Timmerman, V.1
Clowes, V.E.2
Reid, E.3
-
43
-
-
84893146010
-
Genetics of Charcot-Marie-Tooth (CMT) disease within the frame of the human genome project success
-
Timmerman, V., A. V. Strickland, and S. Zuchner . 2014. Genetics of Charcot-Marie-Tooth (CMT) disease within the frame of the human genome project success. Genes 5:13-32.
-
(2014)
Genes
, vol.5
, pp. 13-32
-
-
Timmerman, V.1
Strickland, A.V.2
Zuchner, S.3
-
44
-
-
33747884623
-
MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2
-
Verhoeven, K., K. G. Claeys, S. Zuchner, J. M. Schroder, J. Weis, C. Ceuterick, et al. 2006. MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2. Brain 129:2093-2102.
-
(2006)
Brain
, vol.129
, pp. 2093-2102
-
-
Verhoeven, K.1
Claeys, K.G.2
Zuchner, S.3
Schroder, J.M.4
Weis, J.5
Ceuterick, C.6
-
45
-
-
0037056396
-
Corticosteroid- responsive asymmetric neuropathy with a myelin protein zero gene mutation
-
Watanabe, M., N. Yamamoto, N. Ohkoshi, H. Nagata, Y. Kohno, A. Hayashi, et al. 2002. Corticosteroid- responsive asymmetric neuropathy with a myelin protein zero gene mutation. Neurology 59:767-769.
-
(2002)
Neurology
, vol.59
, pp. 767-769
-
-
Watanabe, M.1
Yamamoto, N.2
Ohkoshi, N.3
Nagata, H.4
Kohno, Y.5
Hayashi, A.6
-
46
-
-
84855418340
-
Processing of nerve biopsies: a practical guide for neuropathologists
-
Weis, J., S. Brandner, M. Lammens, C. Sommer, and J. M. Vallat . 2012. Processing of nerve biopsies: a practical guide for neuropathologists. Clin. Neuropathol. 31:7-23.
-
(2012)
Clin. Neuropathol.
, vol.31
, pp. 7-23
-
-
Weis, J.1
Brandner, S.2
Lammens, M.3
Sommer, C.4
Vallat, J.M.5
-
47
-
-
2442589922
-
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A
-
Zuchner, S., I. V. Mersiyanova, M. Muglia, N. Bissar-Tadmouri, J. Rochelle, E. L. Dadali, et al. 2004. Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A. Nat. Genet. 36:449-451.
-
(2004)
Nat. Genet.
, vol.36
, pp. 449-451
-
-
Zuchner, S.1
Mersiyanova, I.V.2
Muglia, M.3
Bissar-Tadmouri, N.4
Rochelle, J.5
Dadali, E.L.6
|