-
2
-
-
0141987863
-
Polarized domains of myelinated axons
-
DOI 10.1016/S0896-6273(03)00628-7
-
Salzer JL. Polarized domains of myelinated axons. Neuron. 2003;40(2):297-318. (Pubitemid 37244097)
-
(2003)
Neuron
, vol.40
, Issue.2
, pp. 297-318
-
-
Salzer, J.L.1
-
3
-
-
84882866259
-
Hereditary motor and sensory neuropathies: An overview of clinical, genetic, electrophysiologic, and pathologic features
-
Dyck PJ, Thomas PK, eds. Philadelphia, Pennsylvania, USA: Saunders
-
Shy ME, Lupski JR, Chance PF, Klein CJ, Dyck PJ. Hereditary motor and sensory neuropathies: an overview of clinical, genetic, electrophysiologic, and pathologic features. In: Dyck PJ, Thomas PK, eds. Peripheral Neuropathy. Philadelphia, Pennsylvania, USA: Saunders; 2005:1623-1658.
-
(2005)
Peripheral Neuropathy
, pp. 1623-1658
-
-
Shy, M.E.1
Lupski, J.R.2
Chance, P.F.3
Klein, C.J.4
Dyck, P.J.5
-
4
-
-
84855481634
-
-
Human Genome Variation Society web site. Updated February 17, Accessed September 23, 2011
-
Timmerman V. Inherited Peripheral Neuropathies Mutation Database. Human Genome Variation Society web site. http://www.molgen.ua.ac. be/CMTMutations/. Updated February 17, 2011. Accessed September 23, 2011.
-
(2011)
Inherited Peripheral Neuropathies Mutation Database
-
-
Timmerman, V.1
-
5
-
-
33745139797
-
SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: Three novel mutations
-
DOI 10.1111/j.1085-9489.2006.00080.x
-
Latour P, et al. SIMPLE mutation analysis in dominant demyelinating Charcot-Marie-Tooth disease: three novel mutations. J Peripher Nerv Syst. 2006;11(2):148-155. (Pubitemid 43894082)
-
(2006)
Journal of the Peripheral Nervous System
, vol.11
, Issue.2
, pp. 148-155
-
-
Latour, P.1
Gonnaud, P.-M.2
Ollagnon, E.3
Chan, V.4
Perelman, S.5
Stojkovic, T.6
Stoll, C.7
Vial, C.8
Ziegler, F.9
Vandenberghe, A.10
Maire, I.11
-
6
-
-
79551488413
-
Charcot-Marie-Tooth disease subtypes and genetic testing strategies
-
Saporta ASD, Sottile SL, Miller LJ, Feely SME, Siskind CE, Shy ME. Charcot-Marie-Tooth disease subtypes and genetic testing strategies. Ann Neurol. 2011;69(1):22-33.
-
(2011)
Ann Neurol
, vol.69
, Issue.1
, pp. 22-33
-
-
Saporta, A.S.D.1
Sottile, S.L.2
Miller, L.J.3
Feely, S.M.E.4
Siskind, C.E.5
Shy, M.E.6
-
7
-
-
60149083988
-
Molecular mechanisms of inherited demyelinating neuropathies
-
Scherer SS, Wrabetz L. Molecular mechanisms of inherited demyelinating neuropathies. Glia. 2008;56(14):1578-1589.
-
(2008)
Glia
, vol.56
, Issue.14
, pp. 1578-1589
-
-
Scherer, S.S.1
Wrabetz, L.2
-
8
-
-
0035093827
-
SPTLC1 is mutated in hereditary sensory neuropathy, type 1
-
DOI 10.1038/85817
-
Bejaoui K, et al. SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Nat Genet. 2001; 27(3):261-262. (Pubitemid 32201845)
-
(2001)
Nature Genetics
, vol.27
, Issue.3
, pp. 261-262
-
-
Bejaoui, K.1
Wu, C.2
Scheffler, M.D.3
Haan, G.4
Ashby, P.5
Wu, L.6
De Jong, P.7
Brown Jr., R.H.8
-
9
-
-
0035093829
-
Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I
-
DOI 10.1038/85879
-
Dawkins JL, Hulme DJ, Brahmbhatt SB, Auer- Grumbach M, Nicholson GA. Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat Genet. 2001;27(3):309-312. (Pubitemid 32201853)
-
(2001)
Nature Genetics
, vol.27
, Issue.3
, pp. 309-312
-
-
Dawkins, J.L.1
Hulme, D.J.2
Brahmbhatt, S.B.3
Auer-Grumbach, M.4
Nicholson, G.A.5
-
10
-
-
77957736233
-
Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I
-
Rotthier A, et al. Mutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I. Amer J Hum Genet. 2010;87(4):513-522.
-
(2010)
Amer J Hum Genet
, vol.87
, Issue.4
, pp. 513-522
-
-
Rotthier, A.1
-
11
-
-
31544461547
-
Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type I (HSAN I)
-
DOI 10.1093/brain/awh712
-
Houlden H, et al. Clinical, pathological and genetic characterization of hereditary sensory and autonomic neuropathy type 1 (HSAN I). Brain. 2006; 129(pt 2):411-425. (Pubitemid 43164365)
-
(2006)
Brain
, vol.129
, Issue.2
, pp. 411-425
-
-
Houlden, H.1
King, R.2
Blake, J.3
Groves, M.4
Love, S.5
Woodward, C.6
Hammans, S.7
Nicoll, J.8
Lennox, G.9
O'Donovan, D.G.10
Gabriel, C.11
Thomas, P.K.12
Reilly, M.M.13
-
12
-
-
0034894053
-
Hereditary sensory neuropathy type I: Haplotype analysis shows founders in southern England and Europe
-
DOI 10.1086/323252
-
Nicholson GA, Dawkins JL, Blair IP, AuerGrumbach M, Brahmbhatt SB, Hulme DJ. Hereditary sensory neuropathy type I: Haplotype analysis shows founders in southern England and Europe. Amer J Hum Genet. 2001;69(3):655-659. (Pubitemid 32777704)
-
(2001)
American Journal of Human Genetics
, vol.69
, Issue.3
, pp. 655-659
-
-
Nicholson, G.A.1
Dawkins, J.L.2
Blair, I.P.3
Auer-Grumbach, M.4
Brahmbhatt, S.B.5
Hulme, D.J.6
-
13
-
-
77954898943
-
A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity
-
Gable K, Gupta SD, Han G, Niranjanakumari S, Harmon JM, Dunn TM. A disease-causing mutation in the active site of serine palmitoyltransferase causes catalytic promiscuity. J Biol Chem. 2010;285(30):22846-22852.
-
(2010)
J Biol Chem
, vol.285
, Issue.30
, pp. 22846-22852
-
-
Gable, K.1
Gupta, S.D.2
Han, G.3
Niranjanakumari, S.4
Harmon, J.M.5
Dunn, T.M.6
-
14
-
-
77951218516
-
Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids
-
Penno A, et al. Hereditary sensory neuropathy type 1 is caused by the accumulation of two neurotoxic sphingolipids. J Biol Chem. 2010;285(15):11178- 11187.
-
(2010)
J Biol Chem
, vol.285
, Issue.15
, pp. 11178-11187
-
-
Penno, A.1
-
15
-
-
70949086543
-
Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1
-
Eichler FS, et al. Overexpression of the wild-type SPT1 subunit lowers desoxysphingolipid levels and rescues the phenotype of HSAN1. J Neurosci. 2009;29(46):14646-14651.
-
(2009)
J Neurosci
, vol.29
, Issue.46
, pp. 14646-14651
-
-
Eichler, F.S.1
-
16
-
-
84055191084
-
Oral l-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1
-
Garofalo K, et al. Oral l-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1. J Clin Invest. 2011;121(12):4735-4745.
-
(2011)
J Clin Invest
, vol.121
, Issue.12
, pp. 4735-4745
-
-
Garofalo, K.1
|