-
1
-
-
0034928726
-
Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico
-
Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW et al. Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico. Nat Genet 2001; 28: 376-80.
-
(2001)
Nat Genet
, vol.28
, pp. 376-380
-
-
Anikster, Y.1
Huizing, M.2
White, J.3
Shevchenko, Y.O.4
Fitzpatrick, D.L.5
Touchman, J.W.6
-
2
-
-
0346991739
-
Detecting population growth, selection and inherited fertility from haplotypic data in humans
-
Austerlitz F, Kalaydjieva L, Heyer E. Detecting population growth, selection and inherited fertility from haplotypic data in humans. Genetics 2003; 165: 1579-86.
-
(2003)
Genetics
, vol.165
, pp. 1579-1586
-
-
Austerlitz, F.1
Kalaydjieva, L.2
Heyer, E.3
-
3
-
-
0032980321
-
Confirmation of linkage of type 1 hereditary sensory neuropathy to human chromosome 9q22
-
Bejaoui K, McKenna-Yasek D, Hosler BA, Burns-Deater E, Deater LM, O'Neill G et al. Confirmation of linkage of type 1 hereditary sensory neuropathy to human chromosome 9q22. Neurology 1999; 52: 510-5.
-
(1999)
Neurology
, vol.52
, pp. 510-515
-
-
Bejaoui, K.1
McKenna-Yasek, D.2
Hosler, B.A.3
Burns-Deater, E.4
Deater, L.M.5
O'Neill, G.6
-
4
-
-
0035093827
-
SPTLC1 is mutated in hereditary sensory neuropathy, type 1
-
Bejaoui K, Wu C, Scheffler MD, Haan G, Ashby P, Wu L et al. SPTLC1 is mutated in hereditary sensory neuropathy, type 1. Nat Genet 2001; 27: 261-2.
-
(2001)
Nat Genet
, vol.27
, pp. 261-262
-
-
Bejaoui, K.1
Wu, C.2
Scheffler, M.D.3
Haan, G.4
Ashby, P.5
Wu, L.6
-
5
-
-
0004351369
-
Sensory radicular neuropathy associated with muscle wasting in two cases
-
Campbell A, Hoffman H. Sensory radicular neuropathy associated with muscle wasting in two cases. Brain 1964; 87: 67-74.
-
(1964)
Brain
, vol.87
, pp. 67-74
-
-
Campbell, A.1
Hoffman, H.2
-
6
-
-
0033928125
-
Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: A reappraisal of haplotype data
-
Colombo R. Age estimate of the N370S mutation causing Gaucher disease in Ashkenazi Jews and European populations: a reappraisal of haplotype data. Am J Hum Genet 2000a; 66: 692-7.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 692-697
-
-
Colombo, R.1
-
7
-
-
0034306540
-
Dating the origin of the V170M mutation causing non-type I cystinuria in Libyan Jews by linkage disequilibrium and physical mapping of the SLC7A9 gene
-
Colombo R. Dating the origin of the V170M mutation causing non-type I cystinuria in Libyan Jews by linkage disequilibrium and physical mapping of the SLC7A9 gene. Genomics 2000b; 69: 131-4.
-
(2000)
Genomics
, vol.69
, pp. 131-134
-
-
Colombo, R.1
-
8
-
-
0035093829
-
Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I
-
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: 309-12.
-
(2001)
Nat Genet
, vol.27
, pp. 309-312
-
-
Dawkins, J.L.1
Hulme, D.J.2
Brahmbhatt, S.B.3
Auer-Grumbach, M.4
Nicholson, G.A.5
-
9
-
-
0003830405
-
-
Lippincott Williams and Wilkins
-
De Lisa JA, Lee HJ, Baran EM, Lai K-A, Spielholtz N, MacKenzie K. Manual of the nerve conduction velocity and clinical neurophysiology, 3rd ed. Lippincott Williams and Wilkins; 1994.
-
(1994)
Manual of the Nerve Conduction Velocity and Clinical Neurophysiology, 3rd Ed.
-
-
De Lisa, J.A.1
Lee, H.J.2
Baran, E.M.3
Lai, K.-A.4
Spielholtz, N.5
MacKenzie, K.6
-
10
-
-
0000751211
-
Hereditary sensory radicular neuropathy
-
Denny-Brown D. Hereditary sensory radicular neuropathy. J Neurol Neurosurg Psychiatry 1951; 14: 237-52.
-
(1951)
J Neurol Neurosurg Psychiatry
, vol.14
, pp. 237-252
-
-
Denny-Brown, D.1
-
11
-
-
0033808833
-
Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness
-
Dubourg O, Barhoumi C, Azzedine H, Birouk N, Brice A, Bouche P et al. Phenotypic and genetic study of a family with hereditary sensory neuropathy and prominent weakness. Muscle Nerve 2000; 23: 1508-14.
-
(2000)
Muscle Nerve
, vol.23
, pp. 1508-1514
-
-
Dubourg, O.1
Barhoumi, C.2
Azzedine, H.3
Birouk, N.4
Brice, A.5
Bouche, P.6
-
12
-
-
0001768884
-
Neuronal atrophy and degeneration predominantly affecting peripheral sensory neurons
-
Dyck PJ, Thomas PK, Lambert EH, editors. Philadelphia: W B Saunders Co
-
Dyck P, Ohta M. Neuronal atrophy and degeneration predominantly affecting peripheral sensory neurons. In: Dyck PJ, Thomas PK, Lambert EH, editors. Peripheral neuropathy. Philadelphia: W B Saunders Co; 1975. p. 791.
-
(1975)
Peripheral Neuropathy
, pp. 791
-
-
Dyck, P.1
Ohta, M.2
-
13
-
-
0346097880
-
Coexistent hereditary and inflammatory neuropathy
-
Ginsberg L, Malik O, Kenton AR, Sharp D, Muddle JR, Davis MB, et al. Coexistent hereditary and inflammatory neuropathy. Brain 2003; 127: 193-202.
-
(2003)
Brain
, vol.127
, pp. 193-202
-
-
Ginsberg, L.1
Malik, O.2
Kenton, A.R.3
Sharp, D.4
Muddle, J.R.5
Davis, M.B.6
-
14
-
-
50749109971
-
Hereditary perforating ulcer of the foot
-
Hicks E. Hereditary perforating ulcer of the foot. Lancet 1922: 319-21.
-
(1922)
Lancet
, pp. 319-321
-
-
Hicks, E.1
-
16
-
-
4844231295
-
A novel RAB7 mutation associated with ulcero-mutilating neuropathy
-
Houlden H, King RH, Muddle JR, Warner TT, Reilly MM, Orrell RW, et al. A novel RAB7 mutation associated with ulcero-mutilating neuropathy. Ann Neurol 2004b; 56: 586-90.
-
(2004)
Ann Neurol
, vol.56
, pp. 586-590
-
-
Houlden, H.1
King, R.H.2
Muddle, J.R.3
Warner, T.T.4
Reilly, M.M.5
Orrell, R.W.6
-
17
-
-
0004360121
-
Familial lumbo-sacral syringomyelia and the significance of developmental errors of the spinal cord and column
-
Jackson M. Familial lumbo-sacral syringomyelia and the significance of developmental errors of the spinal cord and column. Med J Aust 1949; 1: 434-9.
-
(1949)
Med J Aust
, vol.1
, pp. 434-439
-
-
Jackson, M.1
-
18
-
-
0012356153
-
Zur Frage der familiaren syringomyelie (Klinisch-anatomische Untersuchungen uber familiare neurovasculare Dystrophie der Extremitaten)
-
Jughenn H, Krücke W, Wadulla. Zur Frage der familiaren syringomyelie (Klinisch-anatomische Untersuchungen uber familiare neurovasculare Dystrophie der Extremitaten). Arch Psychiat Nervenkr 1949; 182: 153-76.
-
(1949)
Arch Psychiat Nervenkr
, vol.182
, pp. 153-176
-
-
Jughenn, H.1
Krücke, W.2
Wadulla3
-
20
-
-
0001641514
-
Mutations of the bacteria from virus sensitivity to virus resistence
-
Luria S, Delbruck M. Mutations of the bacteria from virus sensitivity to virus resistence. Genetics 1943; 28: 491-511.
-
(1943)
Genetics
, vol.28
, pp. 491-511
-
-
Luria, S.1
Delbruck, M.2
-
22
-
-
0030140392
-
The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3
-
Nicholson GA, Dawkins JL, Blair IP, Kennerson ML, Gordon MJ, Cherryson AK, et al. The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3. Nat Genet 1996; 13: 101-4.
-
(1996)
Nat Genet
, vol.13
, pp. 101-104
-
-
Nicholson, G.A.1
Dawkins, J.L.2
Blair, I.P.3
Kennerson, M.L.4
Gordon, M.J.5
Cherryson, A.K.6
-
23
-
-
0034894053
-
Hereditary sensory neuropathy type I: Haplotype analysis shows founders in southern England and Europe
-
Nicholson GA, Dawkins JL, Blair IP, Auer-Grumbach M, Brahmbhatt SB, Hulme DJ. Hereditary sensory neuropathy type I: haplotype analysis shows founders in southern England and Europe. Am J Hum Genet 2001; 69: 655-9.
-
(2001)
Am J Hum Genet
, vol.69
, 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
-
24
-
-
84907129762
-
Basic two-dye stains for epoxy-embedded 0. 3-1μ sections
-
Sievers J. Basic two-dye stains for epoxy-embedded 0. 3-1μ sections. Stain Technol 1971; 46: 195-9.
-
(1971)
Stain Technol
, vol.46
, pp. 195-199
-
-
Sievers, J.1
-
25
-
-
0000985763
-
L'acropathie ulcero-mutilante familiale
-
Paris
-
Thèvenard A. L'acropathie ulcero-mutilante familiale. Rev Neurol (Paris) 1942; 74: 193-203.
-
(1942)
Rev Neurol
, vol.74
, pp. 193-203
-
-
Thèvenard, A.1
-
26
-
-
84915665662
-
L'acropathie ulcero-mutilante familiale
-
Thèvenard A. L'acropathie ulcero-mutilante familiale. Acta Neurol Belg 1953; 53: 1-23.
-
(1953)
Acta Neurol Belg
, vol.53
, pp. 1-23
-
-
Thèvenard, A.1
-
27
-
-
0030985749
-
The phenotypic manifestations of chromosome 17p11.2 duplication
-
Thomas PK, Marques W Jr, Davis MB, Sweeney MG, King RH, Bradley JL, et al. The phenotypic manifestations of chromosome 17p11.2 duplication. Brain 1997; 120: 465-78.
-
(1997)
Brain
, vol.120
, pp. 465-478
-
-
Thomas, P.K.1
Marques Jr., W.2
Davis, M.B.3
Sweeney, M.G.4
King, R.H.5
Bradley, J.L.6
-
28
-
-
12144290325
-
SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I
-
Verhoeven K, Coen K, De Vriendt E, Jacobs A, Van Gerwen V, Smouts I, et al. SPTLC1 mutation in twin sisters with hereditary sensory neuropathy type I. Neurology 2004; 62: 1001-2.
-
(2004)
Neurology
, vol.62
, pp. 1001-1002
-
-
Verhoeven, K.1
Coen, K.2
De Vriendt, E.3
Jacobs, A.4
Van Gerwen, V.5
Smouts, I.6
-
29
-
-
0013826227
-
Observations upon a predominantly sensory hereditary neuropathy
-
Wallace D. Observations upon a predominantly sensory hereditary neuropathy. Proc Aust Assoc Neurol 1965; 3: 101-9.
-
(1965)
Proc Aust Assoc Neurol
, vol.3
, pp. 101-109
-
-
Wallace, D.1
-
30
-
-
3643100232
-
Hereditary sensory radicular neuropathy
-
Sydney: Australian Medical Publishing
-
Wallace D. Hereditary sensory radicular neuropathy. Archdall Medical Monograph. Sydney: Australian Medical Publishing; 1970. p. 8.
-
(1970)
Archdall Medical Monograph
, pp. 8
-
-
Wallace, D.1
-
31
-
-
0016203376
-
W. S. Hereditary sensory neuropathy. Association with increased synthesis of immunoglobulin. A
-
Whitaker J, Falchuck ZM, Engel WK, Blaese RM. W. S. Hereditary sensory neuropathy. Association with increased synthesis of immunoglobulin. A. Arch Neurol 1974; 30: 359-71.
-
(1974)
Arch Neurol
, vol.30
, pp. 359-371
-
-
Whitaker, J.1
Falchuck, Z.M.2
Engel, W.K.3
Blaese, R.M.4
|