-
1
-
-
0001046663
-
Hereditary motor and sensory neuropathies
-
Dyck PA, Thomas PK, Griffin JW, et al., eds. 3rd ed. Philadelphia: WB Saunders
-
Dyck PJ, Chance P, Lebo R, et al. Hereditary motor and sensory neuropathies. In: Dyck PA, Thomas PK, Griffin JW, et al., eds. Peripheral Neuropathy, vol 2, 3rd ed. Philadelphia: WB Saunders; 1993:1094-1136.
-
(1993)
Peripheral Neuropathy
, vol.2
, pp. 1094-1136
-
-
Dyck, P.J.1
Chance, P.2
Lebo, R.3
-
2
-
-
0027233374
-
Charcot-Marie-Tooth disease in northern Sweden: An epidemiological and clinical study
-
Holmberg BH. Charcot-Marie-Tooth disease in northern Sweden: an epidemiological and clinical study. Acta Neurol Scand. 1993;87:416-422.
-
(1993)
Acta Neurol. Scand.
, vol.87
, pp. 416-422
-
-
Holmberg, B.H.1
-
3
-
-
0024554331
-
The application of nerve conduction and clinical studies to genetic counseling in hereditary motor and sensory neuropathy type I
-
Berciano J, Combarros O, Calleja J, et al. The application of nerve conduction and clinical studies to genetic counseling in hereditary motor and sensory neuropathy type I. Muscle Nerve. 1989;12:302-306.
-
(1989)
Muscle Nerve
, vol.12
, pp. 302-306
-
-
Berciano, J.1
Combarros, O.2
Calleja, J.3
-
4
-
-
0027518166
-
Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17
-
Kaku DA, Parry GJ, Malamut R, et al. Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17. Neurology. 1993;43:1806-1808.
-
(1993)
Neurology
, vol.43
, pp. 1806-1808
-
-
Kaku, D.A.1
Parry, G.J.2
Malamut, R.3
-
5
-
-
0025892749
-
Penetrance of the hereditary motor and sensory neuropathy type 1A mutation: Assessment by nerve conduction studies
-
Nicholson GA. Penetrance of the hereditary motor and sensory neuropathy type 1A mutation: assessment by nerve conduction studies. Neurology. 1991;41:547-552.
-
(1991)
Neurology
, vol.41
, pp. 547-552
-
-
Nicholson, G.A.1
-
6
-
-
0028137741
-
Hereditary motor and sensory neuropathy type 1: Clinical and neurographical features of the 17p duplication subtype
-
Hoogendijk JE, de Visser M, Bolhuis PA, et al. Hereditary motor and sensory neuropathy type 1: Clinical and neurographical features of the 17p duplication subtype. Muscle Nerve. 1994;17:85-90.
-
(1994)
Muscle Nerve
, vol.17
, pp. 85-90
-
-
Hoogendijk, J.E.1
de Visser, M.2
Bolhuis, P.A.3
-
7
-
-
0030034214
-
Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy
-
Killian JM, Tiwari PS, Jacobson S, et al. Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy. Muscle Nerve. 1996;19: 74-78.
-
(1996)
Muscle Nerve
, vol.19
, pp. 74-78
-
-
Killian, J.M.1
Tiwari, P.S.2
Jacobson, S.3
-
8
-
-
0030919339
-
Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases
-
Birouk N, Gouider R, Le Guern E, et al. Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Brain. 1997;120(part 5):813-823.
-
(1997)
Brain
, vol.120
, Issue.PART 5
, pp. 813-823
-
-
Birouk, N.1
Gouider, R.2
Le Guern, E.3
-
9
-
-
0027031611
-
Identical point mutations of the peripheral myelin protein-22 in Trembler-J mouse and Charcot-Marie-Tooth disease
-
Valentijn LJ, Baas F, Wolterman RA, et al. Identical point mutations of the peripheral myelin protein-22 in Trembler-J mouse and Charcot-Marie-Tooth disease. Nat Genet. 1992;2:288-291.
-
(1992)
Nat. Genet.
, vol.2
, pp. 288-291
-
-
Valentijn, L.J.1
Baas, F.2
Wolterman, R.A.3
-
10
-
-
0026734046
-
Trisomy 17p associated with Charcot-Marie-Tooth neuropathy I phenotype: Evidence for gene dosage as a mechanism in CMT1A
-
Chance PF, Bird TD, Matsunami N, et al. Trisomy 17p associated with Charcot-Marie-Tooth neuropathy I phenotype: evidence for gene dosage as a mechanism in CMT1A. Neurology. 1992;42:2295-2299.
-
(1992)
Neurology
, vol.42
, pp. 2295-2299
-
-
Chance, P.F.1
Bird, T.D.2
Matsunami, N.3
-
11
-
-
0028221758
-
Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerve of patients Charcot-Marie-Tooth disease type 1A
-
Yoshikawa H, Nishimura T, Fujimura H, et al. Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerve of patients Charcot-Marie-Tooth disease type 1A. Ann Neurol. 1994;35:445-450.
-
(1994)
Ann. Neurol.
, vol.35
, pp. 445-450
-
-
Yoshikawa, H.1
Nishimura, T.2
Fujimura, H.3
-
12
-
-
0027314668
-
Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene
-
Roa BB, Garcia CA, Suter U, et al. Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. N Engl J Med. 1993;329:96-101.
-
(1993)
N. Engl. J. Med.
, vol.329
, pp. 96-101
-
-
Roa, B.B.1
Garcia, C.A.2
Suter, U.3
-
13
-
-
0028800889
-
Charcot-Marie-Tooth disease type 1A: Morphological phenotype of the 17p duplication versus PMP22 point mutations
-
Gabreels-Festen AA, Bolhuis PA, Hoogendijk JE, et al. Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations. Acta Neuropathol (Berl). 1995;90: 645-649.
-
(1995)
Acta Neuropathol. (Berl)
, vol.90
, pp. 645-649
-
-
Gabreels-Festen, A.A.1
Bolhuis, P.A.2
Hoogendijk, J.E.3
-
14
-
-
0020073371
-
Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1
-
Bird TD, Ott J, Giblett ER. Evidence for linkage of Charcot-Marie-Tooth neuropathy to the Duffy locus on chromosome 1. Am J Hum Genet. 1982;34:388-394.
-
(1982)
Am. J. Hum. Genet.
, vol.34
, pp. 388-394
-
-
Bird, T.D.1
Ott, J.2
Giblett, E.R.3
-
15
-
-
0027338081
-
Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B
-
Hayasaka K, Takada G, Ionasescu VV. Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B. Hum Mol Genet. 1993;2:1369-1372.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 1369-1372
-
-
Hayasaka, K.1
Takada, G.2
Ionasescu, V.V.3
-
16
-
-
0031443763
-
Tomaculous neuropathy in Charcot-Marie-Tooth disease with myelin protein zero gene mutation
-
Tachi N, Kozuka N, Ohya K, et al. Tomaculous neuropathy in Charcot-Marie-Tooth disease with myelin protein zero gene mutation. J Neurol Sci. 1997;153: 106-109.
-
(1997)
J. Neurol. Sci.
, vol.153
, pp. 106-109
-
-
Tachi, N.1
Kozuka, N.2
Ohya, K.3
-
17
-
-
0032589645
-
The Roussy-Lévy family: From the original description to the gene
-
Plante-Bordeneuve V, Guiochon-Mantel A, Lacroix C, et al. The Roussy-Lévy family: from the original description to the gene. Ann Neurol. 1999;46:770-773.
-
(1999)
Ann. Neurol.
, vol.46
, pp. 770-773
-
-
Plante-Bordeneuve, V.1
Guiochon-Mantel, A.2
Lacroix, C.3
-
18
-
-
0033208622
-
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease
-
Bellone E, Di Maria E, Soriani S, et al. A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease. Hum Mutat. 1999;14:353-354.
-
(1999)
Hum. Mutat.
, vol.14
, pp. 353-354
-
-
Bellone, E.1
Di Maria, E.2
Soriani, S.3
-
19
-
-
0032940401
-
Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33
-
Gabreels-Festen A, van Beersum S, Eshuis L, et al. Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33. J Neurol Neurosurg Psychiatry. 1999;66:569-574.
-
(1999)
J. Neurol. Neurosurg. Psychiatry
, vol.66
, pp. 569-574
-
-
Gabreels-Festen, A.1
van Beersum, S.2
Eshuis, L.3
-
20
-
-
0032973255
-
The human neuregulin-2 (NRG2) gene: Cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie-Tooth disease linked to 5q
-
Ring HZ, Chang H, Guilbot A, et al. The human neuregulin-2 (NRG2) gene: cloning, mapping and evaluation as a candidate for the autosomal recessive form of Charcot-Marie-Tooth disease linked to 5q. Hum Genet. 1999;104:326-332.
-
(1999)
Hum. Genet.
, vol.104
, pp. 326-332
-
-
Ring, H.Z.1
Chang, H.2
Guilbot, A.3
-
21
-
-
0033847004
-
A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23
-
Rogers T, Chandler D, Angelicheva D, et al. A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23. Am J Hum Genet. 2000;67:664-671.
-
(2000)
Am. J. Hum. Genet.
, vol.67
, pp. 664-671
-
-
Rogers, T.1
Chandler, D.2
Angelicheva, D.3
-
22
-
-
0031882018
-
Hereditary motor and sensory neuropathy - LOM, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings
-
Kalaydjieva L, Nikolova A, Turnev I, et al. Hereditary motor and sensory neuropathy - LOM, a novel demyelinating neuropathy associated with deafness in gypsies. Clinical, electrophysiological and nerve biopsy findings. Brain. 1998;121(part 3):399-408.
-
(1998)
Brain
, vol.121
, Issue.PART 3
, pp. 399-408
-
-
Kalaydjieva, L.1
Nikolova, A.2
Turnev, I.3
-
23
-
-
0030011973
-
Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2
-
Yoshioka R, Dyck PJ, Chance PF. Genetic heterogeneity in Charcot-Marie-Tooth neuropathy type 2. Neurology. 1995;46:569-571.
-
(1995)
Neurology
, vol.46
, pp. 569-571
-
-
Yoshioka, R.1
Dyck, P.J.2
Chance, P.F.3
-
24
-
-
0028356510
-
Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis
-
Dyck PJ, Litchy WJ, Minnerath S, et al. Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis. Ann Neurol. 1994;35:608-615.
-
(1994)
Ann. Neurol.
, vol.35
, pp. 608-615
-
-
Dyck, P.J.1
Litchy, W.J.2
Minnerath, S.3
-
25
-
-
0035369084
-
Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bβ
-
Zhao C, Takita J, Tanaka Y, et al. Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bβ. Cell. 2001;105:587-597.
-
(2001)
Cell
, vol.105
, pp. 587-597
-
-
Zhao, C.1
Takita, J.2
Tanaka, Y.3
-
26
-
-
0029150128
-
Assignment of a second locus for Charcot-Marie-Tooth type II locus to chromosome 3q
-
Kwon JM, Elliot JL, Yee W, et al. Assignment of a second locus for Charcot-Marie-Tooth type II locus to chromosome 3q. Am J Hum Genet. 1995;57:853-858.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 853-858
-
-
Kwon, J.M.1
Elliot, J.L.2
Yee, W.3
-
27
-
-
0029831478
-
Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D)
-
Ionasescu V, Searby C, Sheffield VC, et al. Autosomal dominant Charcot-Marie-Tooth axonal neuropathy mapped on chromosome 7p (CMT2D). Hum Mol Genet. 1996;5:1373-1375.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1373-1375
-
-
Ionasescu, V.1
Searby, C.2
Sheffield, V.C.3
-
28
-
-
0032879679
-
Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1
-
Takashima H, Nakagawa M, Suehara M, et al. Gene for hereditary motor and sensory neuropathy (proximal dominant form) mapped to 3q13.1. Neuromuscul Disord. 1999;9:368-371.
-
(1999)
Neuromuscul. Disord.
, vol.9
, pp. 368-371
-
-
Takashima, H.1
Nakagawa, M.2
Suehara, M.3
-
29
-
-
0035136847
-
Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E
-
De Jonghe P, Mersivanova I, Nelis E, et al. Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E. Ann Neurol. 2001:245-249.
-
(2001)
Ann. Neurol.
, pp. 245-249
-
-
De Jonghe, P.1
Mersivanova, I.2
Nelis, E.3
-
30
-
-
0033027371
-
Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene
-
Chapon F, Latour P, Diraison P, et al. Axonal phenotype of Charcot-Marie-Tooth disease associated with a mutation in the myelin protein zero gene. J Neurol Neurosurg Psychiatry. 1999;66:779-782.
-
(1999)
J. Neurol. Neurosurg. Psychiatry
, vol.66
, pp. 779-782
-
-
Chapon, F.1
Latour, P.2
Diraison, P.3
-
31
-
-
4644332331
-
Hereditary neuropathies
-
American Academy of Neurology, Course 7FC.006. Denver
-
Jaradeh SS. Hereditary neuropathies. American Academy of Neurology, Course 7FC.006. Denver; 2002:169-190.
-
(2002)
, pp. 169-190
-
-
Jaradeh, S.S.1
-
32
-
-
0025085880
-
X-linked dominant hereditary motor and sensory neuropathy
-
Hahn AF, Brown WF, Koopman WJ, et al. X-linked dominant hereditary motor and sensory neuropathy. Brain. 1990;113:1511-1525.
-
(1990)
Brain
, vol.113
, pp. 1511-1525
-
-
Hahn, A.F.1
Brown, W.F.2
Koopman, W.J.3
-
33
-
-
0034784158
-
Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease
-
Dubourg O, Tardieu S, Birouk N, et al. Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease. Brain. 2001;124:1958-1967.
-
(2001)
Brain
, vol.124
, pp. 1958-1967
-
-
Dubourg, O.1
Tardieu, S.2
Birouk, N.3
-
34
-
-
0027723256
-
Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families
-
Nicholson GA, Nash J. Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families. Neurology. 1993;43:2558-2564.
-
(1993)
Neurology
, vol.43
, pp. 2558-2564
-
-
Nicholson, G.A.1
Nash, J.2
-
35
-
-
0026576065
-
X-linked recessive Charcot-Marie-Tooth neuropathy: Clinical and genetic study
-
Ionasescu VV, Trofatter JL, Haines JL, et al. X-linked recessive Charcot-Marie-Tooth neuropathy: clinical and genetic study. Muscle Nerve. 1992;5:368-373.
-
(1992)
Muscle Nerve
, vol.5
, pp. 368-373
-
-
Ionasescu, V.V.1
Trofatter, J.L.2
Haines, J.L.3
-
36
-
-
18544385024
-
Ganglio-side-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21
-
Baxter RV, Othmane BK, Rochelle JM, et al. Ganglio-side-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Nat Genet. 2002;30:21-22.
-
(2002)
Nat. Genet.
, vol.30
, pp. 21-22
-
-
Baxter, R.V.1
Othmane, B.K.2
Rochelle, J.M.3
-
37
-
-
9344241377
-
Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: Clinical, electrophysiologic, and genetic aspects of a large family
-
Quattrone A, Gambardella A, Bono F, et al. Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family. Neurology. 1996;46:1318-1324.
-
(1996)
Neurology
, vol.46
, pp. 1318-1324
-
-
Quattrone, A.1
Gambardella, A.2
Bono, F.3
-
38
-
-
0030015647
-
Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing
-
Bolino A, Brancolini V, Bono F, et al. Localization of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded myelin sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. Hum Mol Genet. 1996;5:1051-1054.
-
(1996)
Hum. Mol. Genet.
, vol.5
, pp. 1051-1054
-
-
Bolino, A.1
Brancolini, V.2
Bono, F.3
-
39
-
-
0035864930
-
A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease
-
Guilbot A, Williams A, Ravise N, et al. A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease. Hum Mol Genet. 2001;10:415-421.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 415-421
-
-
Guilbot, A.1
Williams, A.2
Ravise, N.3
-
40
-
-
0001215716
-
Inherited recurrent focal neuropathies
-
Dyck PA, Thomas PK, Griffin JW, et al., eds. 3rd ed. Philadelphia, WB Saunders
-
Windebank AJ. Inherited recurrent focal neuropathies. In: Dyck PA, Thomas PK, Griffin JW, et al., eds. Peripheral Neuropathy, vol 2, 3rd ed. Philadelphia, WB Saunders; 1993:1137-1148.
-
(1993)
Peripheral Neuropathy
, vol.2
, pp. 1137-1148
-
-
Windebank, A.J.1
-
41
-
-
0030031715
-
Tomaculous neuropathy: A clinical and electrophysiological study in patients with and without 1.5-Mb deletions in chromosome 17p11.2
-
Amato AA, Gronseth GS, Callerame KJ, et al. Tomaculous neuropathy: a clinical and electrophysiological study in patients with and without 1.5-Mb deletions in chromosome 17p11.2. Muscle Nerve. 1996;19:16-22.
-
(1996)
Muscle Nerve
, vol.19
, pp. 16-22
-
-
Amato, A.A.1
Gronseth, G.S.2
Callerame, K.J.3
-
42
-
-
0023201890
-
Conduction block in hereditary neuropathy with susceptibility to pressure palsics
-
Sellman MS, Mayer RF. Conduction block in hereditary neuropathy with susceptibility to pressure palsics. Muscle Nerve. 1987;10:621-625.
-
(1987)
Muscle Nerve
, vol.10
, pp. 621-625
-
-
Sellman, M.S.1
Mayer, R.F.2
-
43
-
-
0027972378
-
Two autosomal dominant neuropathies result from reciprocal duplication/deletion of a region of chromosome 17
-
Chance PF, Abbas N, Lensch MW, et al. Two autosomal dominant neuropathies result from reciprocal duplication/deletion of a region of chromosome 17. Hum Mol Genet. 1994;3:223-228.
-
(1994)
Hum. Mol. Genet.
, vol.3
, pp. 223-228
-
-
Chance, P.F.1
Abbas, N.2
Lensch, M.W.3
-
44
-
-
0031433106
-
Hereditary neuralgic amyotrophy: Evidence for genetic homogeneity and mapping to chromosome 17q25
-
Pellegrino JE, George RA, Biegef J, et al. Hereditary neuralgic amyotrophy: evidence for genetic homogeneity and mapping to chromosome 17q25. Hum Genet. 1997;101:277-283.
-
(1997)
Hum. Genet.
, vol.101
, pp. 277-283
-
-
Pellegrino, J.E.1
George, R.A.2
Biegef, J.3
-
45
-
-
0019494495
-
Intensive evaluation of unclassified neuropathies yields improved diagnosis
-
Dyck PJ, Oviatt KF, Lambert EH. Intensive evaluation of unclassified neuropathies yields improved diagnosis. Ann Neurol. 1981;10:222-226.
-
(1981)
Ann. Neurol.
, vol.10
, pp. 222-226
-
-
Dyck, P.J.1
Oviatt, K.F.2
Lambert, E.H.3
-
46
-
-
0027359513
-
Screening of dominantly inherited Charcot-Marie-Tooth neuropathics
-
Ionasescu VV, Ionasescu R, Searby C. Screening of dominantly inherited Charcot-Marie-Tooth neuropathics. Muscle Nerve. 1993;16:1232-1238.
-
(1993)
Muscle Nerve
, vol.16
, pp. 1232-1238
-
-
Ionasescu, V.V.1
Ionasescu, R.2
Searby, C.3
-
47
-
-
4644304390
-
Hereditary neuropathies: Clinical and electrodiagnostic features and rationale testing
-
American Association of Electrodiagnostic Medicine Course E. San Diego
-
Jaradeh SS. Hereditary neuropathies: clinical and electrodiagnostic features and rationale testing. American Association of Electrodiagnostic Medicine Course E. San Diego; 1997:23-27.
-
(1997)
, pp. 23-27
-
-
Jaradeh, S.S.1
-
48
-
-
0000157043
-
Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons
-
Dyck PA, Thomas PK, Griffin JW, et al., eds. 3rd ed. Philadelphia: WB Saunders
-
Dyck PJ. Neuronal atrophy and degeneration predominantly affecting peripheral sensory and autonomic neurons. In: Dyck PA, Thomas PK, Griffin JW, et al., eds. Peripheral Neuropathy, vol 2, 3rd ed. Philadelphia: WB Saunders; 1993:1065-1093
-
(1993)
Peripheral Neuropathy
, vol.2
, pp. 1065-1093
-
-
Dyck, P.J.1
-
49
-
-
0030140392
-
The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3
-
Nicholson GA, Dawkins JL, Blair IP, et al. The gene for hereditary sensory neuropathy type I (HSN-I) maps to chromosome 9q22.1-q22.3. Nat Genet. 1996;13:101-104.
-
(1996)
Nat. Genet.
, vol.13
, pp. 101-104
-
-
Nicholson, G.A.1
Dawkins, J.L.2
Blair, I.P.3
-
50
-
-
0035093829
-
Mutations in SPTLC1, encoding scrine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I
-
Dawkins JL, Hulme DJ, Brahmbhatt SB, et al. Mutations in SPTLC1, encoding scrine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I. Nat Genet. 2001;27:309-312.
-
(2001)
Nat. Genet.
, vol.27
, pp. 309-312
-
-
Dawkins, J.L.1
Hulme, D.J.2
Brahmbhatt, S.B.3
-
51
-
-
0030222493
-
Exclusion of p75NGFR and other candidate genes in a family with hereditary sensory neuropathy type II
-
Davar G, Shalish C, Blumenfeld A, et al. Exclusion of p75NGFR and other candidate genes in a family with hereditary sensory neuropathy type II. Pain. 1996; 67:135-139.
-
(1996)
Pain
, vol.67
, pp. 135-139
-
-
Davar, G.1
Shalish, C.2
Blumenfeld, A.3
-
52
-
-
0014842214
-
Familial dysautonomia: A report of genetic and clinical studies, with a review of the literature
-
Brunt PW, McKusick VA. Familial dysautonomia: a report of genetic and clinical studies, with a review of the literature. Medicine (Baltimore). 1970;49: 343-374.
-
(1970)
Medicine (Baltimore)
, vol.49
, pp. 343-374
-
-
Brunt, P.W.1
McKusick, V.A.2
-
53
-
-
0019413659
-
Progressive sensory loss in familial dysautonomia
-
Axelrod FB, Iyer K, Fish I, et al. Progressive sensory loss in familial dysautonomia. Pediatrics. 1981;67: 517-522.
-
(1981)
Pediatrics
, vol.67
, pp. 517-522
-
-
Axelrod, F.B.1
Iyer, K.2
Fish, I.3
-
54
-
-
0021738204
-
Congenital sensory neuropathies. Diagnostic distinction from familial dysautonomia
-
Axelrod FB, Pearson J. Congenital sensory neuropathies. Diagnostic distinction from familial dysautonomia. Am J Dis Child. 1984;138:947-954.
-
(1984)
Am. J. Dis. Child
, vol.138
, pp. 947-954
-
-
Axelrod, F.B.1
Pearson, J.2
-
55
-
-
0028917149
-
The human gene for neurotrophic tyrosine kinase receptor type 2 (NTRK2) is located on chromosome 9 but is not the familial dysautonomia gene
-
Slaugenhaupt SA, Blumenfeld A, Liebert CB, et al. The human gene for neurotrophic tyrosine kinase receptor type 2 (NTRK2) is located on chromosome 9 but is not the familial dysautonomia gene. Genomics. 1995;25:730-732.
-
(1995)
Genomics
, vol.25
, pp. 730-732
-
-
Slaugenhaupt, S.A.1
Blumenfeld, A.2
Liebert, C.B.3
-
56
-
-
0033564606
-
Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31
-
Chadwick BP, Mull J, Helbling LA, et al. Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31. Genomics. 1999;58:302-309.
-
(1999)
Genomics
, vol.58
, pp. 302-309
-
-
Chadwick, B.P.1
Mull, J.2
Helbling, L.A.3
-
57
-
-
0018897837
-
Congenital insensitivity to pain with anhidrosis
-
Rafel E, Alberca R, Bautista J, et al. Congenital insensitivity to pain with anhidrosis. Muscle Nerve. 1980;3:216-220.
-
(1980)
Muscle Nerve
, vol.3
, pp. 216-220
-
-
Rafel, E.1
Alberca, R.2
Bautista, J.3
-
58
-
-
0033364823
-
Congenital insensitivity to pain with anhidrosis: Novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor
-
Mardy S, Miura Y, Endo F, et al. Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor. Am J Hum Genet. 1999; 64:1570-1579.
-
(1999)
Am. J. Hum. Genet.
, vol.64
, pp. 1570-1579
-
-
Mardy, S.1
Miura, Y.2
Endo, F.3
-
59
-
-
0035253349
-
Congenital insensitivity to pain with anhidrosis (CIPA): Effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor
-
Mardy S, Miura Y, Endo F, et al. Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor. Hum Mol Genet. 2001;10:179-188.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 179-188
-
-
Mardy, S.1
Miura, Y.2
Endo, F.3
|