-
1
-
-
0015802627
-
Hereditary sensory neuropathy, type II. Clinical, electrophysiologic, histologic, and biochemical studies of a Quebec kinship
-
Ota M, Ellefson RD, Lambert EH, Dyck PJ. Hereditary sensory neuropathy, type II. Clinical, electrophysiologic, histologic, and biochemical studies of a Quebec kinship. Arch Neurol 1973;29:23-37.
-
(1973)
Arch Neurol
, vol.29
, pp. 23-37
-
-
Ota, M.1
Ellefson, R.D.2
Lambert, E.H.3
Dyck, P.J.4
-
2
-
-
70350646901
-
Mutations in FAM134B, encoding a newly identified Golgi protein, causing severe sensory and autonomic neuropathy
-
Kurth I, Pamminger T, Hennings JC, Soehendra D, Huebner AK, Rotthier A, et al. Mutations in FAM134B, encoding a newly identified Golgi protein, causing severe sensory and autonomic neuropathy. Nat Genet 2009;41:1179-1181.
-
(2009)
Nat Genet
, vol.41
, pp. 1179-1181
-
-
Kurth, I.1
Pamminger, T.2
Hennings, J.C.3
Soehendra, D.4
Huebner, A.K.5
Rotthier, A.6
-
3
-
-
84155164515
-
Mutation in FAM134B causing severe hereditary sensory neuropathy
-
Murphy SM, Davidson GL, Brandner S, Houlden H, Reilly MM. Mutation in FAM134B causing severe hereditary sensory neuropathy. J Neurol Neurosurg Psychiatry 2012;83:119-120.
-
(2012)
J Neurol Neurosurg Psychiatry
, vol.83
, pp. 119-120
-
-
Murphy, S.M.1
Davidson, G.L.2
Brandner, S.3
Houlden, H.4
Reilly, M.M.5
-
4
-
-
31344481370
-
Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31-14.1
-
Bouhouche A, Benomar A, Bouslam N, Ouazzani R, Chkili T, Yahyaoui M. Autosomal recessive mutilating sensory neuropathy with spastic paraplegia maps to chromosome 5p15.31-14.1. Eur J Hum Genet 2005;14:249-252.
-
(2005)
Eur J Hum Genet
, vol.14
, pp. 249-252
-
-
Bouhouche, A.1
Benomar, A.2
Bouslam, N.3
Ouazzani, R.4
Chkili, T.5
Yahyaoui, M.6
-
5
-
-
84857431766
-
Hereditary sensory and autonomic neuropathy with autonomic crises: a Turkish variant of familial dysautonomia?
-
Koy A, Freynhagen R, Mayatepek E, Tibussek D. Hereditary sensory and autonomic neuropathy with autonomic crises: a Turkish variant of familial dysautonomia? J Child Neurol 2012;27:191-196.
-
(2012)
J Child Neurol
, vol.27
, pp. 191-196
-
-
Koy, A.1
Freynhagen, R.2
Mayatepek, E.3
Tibussek, D.4
-
6
-
-
27944495912
-
HSANs: clinical features, pathologic classification and molecular genetics
-
Dyke PJ, Thomas PK, editors. 4th ed. Philadelphia: Elsevier Saunders
-
Christopher JK, Peter JD. HSANs: clinical features, pathologic classification and molecular genetics. In: Dyke PJ, Thomas PK, editors. Peripheral neuropathy. 4th ed. Philadelphia: Elsevier Saunders; 2005. p 1809-1844.
-
(2005)
Peripheral neuropathy
, pp. 1809-1844
-
-
Christopher, J.K.1
Peter, J.D.2
-
7
-
-
2342557998
-
Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates
-
Lafreniere RG, MacDonald ML, Dube MP, MacFarlane J, O'Driscoll M, Brais B, et al. Identification of a novel gene (HSN2) causing hereditary sensory and autonomic neuropathy type II through the Study of Canadian Genetic Isolates. Am J Hum Genet 2004;74:1064-1073.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 1064-1073
-
-
Lafreniere, R.G.1
MacDonald, M.L.2
Dube, M.P.3
MacFarlane, J.4
O'Driscoll, M.5
Brais, B.6
-
8
-
-
0027963333
-
Autosomal recessive hereditary sensory neuropathy with spastic paraplegia
-
Thomas PK, Misra VP, King HM, Muddle JR, Wroe S, Bhatia KP, et al. Autosomal recessive hereditary sensory neuropathy with spastic paraplegia. Brain 1994;117:651-659.
-
(1994)
Brain
, vol.117
, pp. 651-659
-
-
Thomas, P.K.1
Misra, V.P.2
King, H.M.3
Muddle, J.R.4
Wroe, S.5
Bhatia, K.P.6
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