-
1
-
-
0021956867
-
Heterogeneity of congenital motor and sensory neuropathies
-
[1] Lutsch J, Vasella F, Boltshauser E, Dias K, Meier C. Heterogeneity of congenital motor and sensory neuropathies. Neuropediatrics 1985;15:33-8.
-
(1985)
Neuropediatrics
, vol.15
, pp. 33-38
-
-
Lutsch, J.1
Vasella, F.2
Boltshauser, E.3
Dias, K.4
Meier, C.5
-
2
-
-
0028917680
-
Muscle and intramuscular nerve pathology in congenital hypomyelination neuropathy
-
[2] Nara T, Akashi M, Nonaka I, et al. Muscle and intramuscular nerve pathology in congenital hypomyelination neuropathy. J Neurol Sci 1995;129:170-4.
-
(1995)
J Neurol Sci
, vol.129
, pp. 170-174
-
-
Nara, T.1
Akashi, M.2
Nonaka, I.3
-
3
-
-
0011433525
-
Quantitative teased fiber and histological studies of human sural nerve during postnatal development
-
[3] Gutrecht JA, Dyck PJ. Quantitative teased fiber and histological studies of human sural nerve during postnatal development. J Comp Neurol 1970;128:17-29.
-
(1970)
J Comp Neurol
, vol.128
, pp. 17-29
-
-
Gutrecht, J.A.1
Dyck, P.J.2
-
5
-
-
0023944411
-
Congenital absence of peripheral myelin: Abnormal Schwann cell development causes lethal arthrogryposis multiplex congenita
-
[5] Charnas L, Trapp B, Griffin J. Congenital absence of peripheral myelin: Abnormal Schwann cell development causes lethal arthrogryposis multiplex congenita. Neurology 1988;38:966-74.
-
(1988)
Neurology
, vol.38
, pp. 966-974
-
-
Charnas, L.1
Trapp, B.2
Griffin, J.3
-
6
-
-
0022892284
-
Hypomyelination neuropathy in a female newborn presenting as arthrogryposis multiplex congenita
-
[6] Seitz RJ, Wechsler W, Mosny DS, Lernard HG. Hypomyelination neuropathy in a female newborn presenting as arthrogryposis multiplex congenita. Neuropediatrics 1986;17:132-6.
-
(1986)
Neuropediatrics
, vol.17
, pp. 132-136
-
-
Seitz, R.J.1
Wechsler, W.2
Mosny, D.S.3
Lernard, H.G.4
-
7
-
-
0016834251
-
Infantile polyneuropathy with defective myelination: An autopsy study
-
[7] Karch S, Urich H. Infantile polyneuropathy with defective myelination: An autopsy study. Dev Med Child Neurol 1975;17:504-11.
-
(1975)
Dev Med Child Neurol
, vol.17
, pp. 504-511
-
-
Karch, S.1
Urich, H.2
-
8
-
-
0017116810
-
Chronic polyradiculoneuropathy of infancy
-
[8] Kasman M, Bernstein L, Schulman S. Chronic polyradiculoneuropathy of infancy. Neurology 1976;26:565-73.
-
(1976)
Neurology
, vol.26
, pp. 565-573
-
-
Kasman, M.1
Bernstein, L.2
Schulman, S.3
-
10
-
-
0019480199
-
Connatal polyneuropathy a case with proliferated microfilaments in schwann cells
-
[10] Ulrich J, Hirt H, Kleihues P, Oberholzer M. Connatal polyneuropathy a case with proliferated microfilaments in Schwann cells. Acta Neuropathol 1981;55:39-46.
-
(1981)
Acta Neuropathol
, vol.55
, pp. 39-46
-
-
Ulrich, J.1
Hirt, H.2
Kleihues, P.3
Oberholzer, M.4
-
11
-
-
0025779846
-
Infantile hereditary neuropathy with hypomyelination: Report of two siblings with different expressivity
-
[11] Balestrini M, Cavaletti G, D'Angelo A, Tredici G. Infantile hereditary neuropathy with hypomyelination: Report of two siblings with different expressivity. Neuropediatrics 1991;22:65-70.
-
(1991)
Neuropediatrics
, vol.22
, pp. 65-70
-
-
Balestrini, M.1
Cavaletti, G.2
D'Angelo, A.3
Tredici, G.4
-
12
-
-
0028231331
-
Charcot-Marie-Tooth disease: A new paradigm for the mechanism of inherited disease
-
[12] Patel PL, Lupski JR. Charcot-Marie-Tooth disease: A new paradigm for the mechanism of inherited disease. Trends Genet 1994; 10:128-33.
-
(1994)
Trends Genet
, vol.10
, pp. 128-133
-
-
Patel, P.L.1
Lupski, J.R.2
-
13
-
-
0027772413
-
Connexin mutations in X-linked Charcot-Marie-Tooth disease
-
[13] Bergoffen J, Scherer SS, Wang S, et al. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 1993;262:2039-42.
-
(1993)
Science
, vol.262
, pp. 2039-2042
-
-
Bergoffen, J.1
Scherer, S.S.2
Wang, S.3
-
14
-
-
0027221142
-
Deletion of the serine 34 codon from the major peripheral myelin protein Po gene in Charcot-Marie-Tooth disease Type 1B
-
[14] Kulkens T, Bolhuis PA, Wolterman RA. Deletion of the serine 34 codon from the major peripheral myelin protein Po gene in Charcot-Marie-Tooth disease Type 1B. Nature Genet 1993;5:35-9.
-
(1993)
Nature Genet
, vol.5
, pp. 35-39
-
-
Kulkens, T.1
Bolhuis, P.A.2
Wolterman, R.A.3
-
15
-
-
0027422165
-
De novo mutation of the myelin Po gene in Dejerine-Sottas disease
-
[15] Hayasaka K, Himoro M, Sawaishi Y, et al. De novo mutation of the myelin Po gene in Dejerine-Sottas disease. Nature Genet 1993;5: 266-8.
-
(1993)
Nature Genet
, vol.5
, pp. 266-268
-
-
Hayasaka, K.1
Himoro, M.2
Sawaishi, Y.3
-
16
-
-
0027486810
-
Dejerine-Sottas syndrome associated with point mutation in the PMP 22 gene
-
[16] Roa BB, Dyck PJ, Marks HG, Chance PF, Lupski JR. Dejerine-Sottas syndrome associated with point mutation in the PMP 22 gene. Nature Genet 1993;5:269-73.
-
(1993)
Nature Genet
, vol.5
, pp. 269-273
-
-
Roa, B.B.1
Dyck, P.J.2
Marks, H.G.3
Chance, P.F.4
Lupski, J.R.5
-
17
-
-
0020502138
-
Benign infantile mitochondrial myopathy due to reversible cytochrome C oxidase deficiency
-
[17] DiMauro S, Nicholson JF, Huys AP, et al. Benign infantile mitochondrial myopathy due to reversible cytochrome C oxidase deficiency. Ann Neurol 1983;14:226-34.
-
(1983)
Ann Neurol
, vol.14
, pp. 226-234
-
-
DiMauro, S.1
Nicholson, J.F.2
Huys, A.P.3
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