-
1
-
-
0002896804
-
Sur une forme particulière d'atrophie musculaire progressive souvent familiale débutant par les pieds et les jambes et atteignant plus tard les mains
-
Charcot JM, Marie P. Sur une forme particulière d'atrophie musculaire progressive souvent familiale débutant par les pieds et les jambes et atteignant plus tard les mains. Rev Med 1886;6:97-138.
-
(1886)
Rev Med
, vol.6
, pp. 97-138
-
-
Charcot, J.M.1
Marie, P.2
-
3
-
-
0014301249
-
Lower motor and primary sensory neuron diseases with peroneal muscular atrophy: Neurologic, genetic and electrophysiologic findings in hereditary polyneuropathy
-
Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy: neurologic, genetic and electrophysiologic findings in hereditary polyneuropathy. Arch Neurol 1968;18:603-618.
-
(1968)
Arch Neurol
, vol.18
, pp. 603-618
-
-
Dyck, P.J.1
Lambert, E.H.2
-
6
-
-
0017648231
-
Peroneal muscular atrophy and related disorders: Clinical manifestations as related with biopsy findings, nerve conduction, and electromyography
-
Buchtal F, Behse F. Peroneal muscular atrophy and related disorders: clinical manifestations as related with biopsy findings, nerve conduction, and electromyography. Brain 1976;99: 41-66.
-
(1976)
Brain
, vol.99
, pp. 41-66
-
-
Buchtal, F.1
Behse, F.2
-
7
-
-
0014301112
-
Lower motor and primary sensory neuron diseases with peroneal muscular atrophy: Neurologic, genetic and electrophysiologic findings in various neuronal degenerations
-
Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy: neurologic, genetic and electrophysiologic findings in various neuronal degenerations. Arch Neurol 1968;18:619-625.
-
(1968)
Arch Neurol
, vol.18
, pp. 619-625
-
-
Dyck, P.J.1
Lambert, E.H.2
-
8
-
-
0018222952
-
The peroneal muscular atrophy syndrome (clinical, genetic, electrophysiological and nerve biopsy studies)
-
Davis CJF, Bradley WG, Madrid R. The peroneal muscular atrophy syndrome (clinical, genetic, electrophysiological and nerve biopsy studies). J Genet Hum 1978;26:311-349.
-
(1978)
J Genet Hum
, vol.26
, pp. 311-349
-
-
Davis, C.J.F.1
Bradley, W.G.2
Madrid, R.3
-
9
-
-
0001195801
-
Inherited neuronal degeneration and atrophy affecting peripheral motor sensory and autonomic neuron
-
Dyck PJ, Thomas PK, Lambert EH, et al., eds. Philadelphia: WB Saunders
-
Dyck PJ. Inherited neuronal degeneration and atrophy affecting peripheral motor sensory and autonomic neuron. In: Dyck PJ, Thomas PK, Lambert EH, et al., eds. Peripheral neuropathy. Philadelphia: WB Saunders, 1984:1600-1642.
-
(1984)
Peripheral Neuropathy
, pp. 1600-1642
-
-
Dyck, P.J.1
-
10
-
-
0027205220
-
Diagnostic criteria for autosomal dominant hereditary motor and sensory neuropathies
-
De Visser M. Diagnostic criteria for autosomal dominant hereditary motor and sensory neuropathies. Neuromuscul Disord 1993;3:77-79.
-
(1993)
Neuromuscul Disord
, vol.3
, pp. 77-79
-
-
De Visser, M.1
-
11
-
-
0027981751
-
Molecular genetics of Charcot- Marie-Tooth disease and related neuropathies
-
Chance PF, Fishbeck KH. Molecular genetics of Charcot- Marie-Tooth disease and related neuropathies. Hum Mol Genet 1994;3:1503-1507.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 1503-1507
-
-
Chance, P.F.1
Fishbeck, K.H.2
-
12
-
-
0029058673
-
From the syndrome of Charcot-Marie-Tooth to disorders of peripheral myeline proteins
-
Harding AE. From the syndrome of Charcot-Marie-Tooth to disorders of peripheral myeline proteins. Brain 1995;118:809-818.
-
(1995)
Brain
, vol.118
, pp. 809-818
-
-
Harding, A.E.1
-
13
-
-
0018942439
-
The clinical features of hereditary motor and sensory neuropathy types I and II
-
Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980;103: 259-280.
-
(1980)
Brain
, vol.103
, pp. 259-280
-
-
Harding, A.E.1
Thomas, P.K.2
-
14
-
-
0018817642
-
Autosomal recessive forms of hereditary motor and sensory neuropathy
-
Harding AE, Thomas PK. Autosomal recessive forms of hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry 1980;43:669-678.
-
(1980)
J Neurol Neurosurg Psychiatry
, vol.43
, pp. 669-678
-
-
Harding, A.E.1
Thomas, P.K.2
-
15
-
-
0018949405
-
Genetics aspects of HMSN
-
Harding AE. Genetics aspects of HMSN. J Med Genet 1980; 17:329-336.
-
(1980)
J Med Genet
, vol.17
, pp. 329-336
-
-
Harding, A.E.1
-
16
-
-
0026761768
-
Autosomal recessive form of hereditary motor and sensory neuropathy type I
-
Gabreëls-Festen AAWM, Gabreëls FJM, Jennekens FGI, et al. Autosomal recessive form of hereditary motor and sensory neuropathy type I. Neurology 1992;42:1755-1761.
-
(1992)
Neurology
, vol.42
, pp. 1755-1761
-
-
Gabreëls-Festen, A.A.W.M.1
Gabreëls, F.J.M.2
Jennekens, F.G.I.3
-
17
-
-
33744587724
-
On the peroneal type of progressive muscular atrophy
-
Fisher RA, ed. Cambridge University Press, part 21935
-
Bell J. On the peroneal type of progressive muscular atrophy. In: Fisher RA, ed. Treasury of human inheritance. Cambridge University Press, IV part 21935:69-140.
-
Treasury of Human Inheritance
, vol.4
, pp. 69-140
-
-
Bell, J.1
-
18
-
-
0005046359
-
Relation of hereditary pattern to clinical severity as illustrated by peroneal atrophy
-
Allan W. Relation of hereditary pattern to clinical severity as illustrated by peroneal atrophy. Arch Intern Med 1939;63: 1123-1131.
-
(1939)
Arch Intern Med
, vol.63
, pp. 1123-1131
-
-
Allan, W.1
-
19
-
-
0023127966
-
The hypertrophic forms of hereditary motor and sensory neuropathy
-
Ouvrier RA, McLeod J, Conchin TE. The hypertrophic forms of hereditary motor and sensory neuropathy. Brain 1987;110: 121-148.
-
(1987)
Brain
, vol.110
, pp. 121-148
-
-
Ouvrier, R.A.1
McLeod, J.2
Conchin, T.E.3
-
20
-
-
0014456191
-
Ultrastructural study of a nerve biopsy from a case of early infantile chronic neuropathy
-
Bert
-
Lyon G. Ultrastructural study of a nerve biopsy from a case of early infantile chronic neuropathy. Acta Neuropathol (Bert) 1969;13:131-142.
-
(1969)
Acta Neuropathol
, vol.13
, pp. 131-142
-
-
Lyon, G.1
-
21
-
-
0019925158
-
Congenital hypomyelination polyneuropathy: Pathological findings compared with polyneuropathies starting later in life
-
Guzetta F, Ferniere G, Lyon G. Congenital hypomyelination polyneuropathy: pathological findings compared with polyneuropathies starting later in life. Brain 1982;105:395-416.
-
(1982)
Brain
, vol.105
, pp. 395-416
-
-
Guzetta, F.1
Ferniere, G.2
Lyon, G.3
-
22
-
-
0017377998
-
A case of congenital hypomyelination neuropathy: Clinical, morphological and chemical studies
-
Kennedy WR, Sung JH, Berry JH. A case of congenital hypomyelination neuropathy: clinical, morphological and chemical studies. Arch Neurol 1977;34:337-345.
-
(1977)
Arch Neurol
, vol.34
, pp. 337-345
-
-
Kennedy, W.R.1
Sung, J.H.2
Berry, J.H.3
-
23
-
-
0019351028
-
Pooled European series of hereditary peripheral neuropathies in infancy and childhood
-
Hagberg B, Lyon G. Pooled European series of hereditary peripheral neuropathies in infancy and childhood. Neuropediatrics 1981;12:9-17.
-
(1981)
Neuropediatrics
, vol.12
, pp. 9-17
-
-
Hagberg, B.1
Lyon, G.2
-
24
-
-
0025915876
-
Neuropathies à début congénital
-
Paris
-
Routon MC, Robain O, Mayer M, et al. Neuropathies à début congénital. Rev Neurol (Paris) 1991;147:8-9, 577-585.
-
(1991)
Rev Neurol
, vol.147
, pp. 8-9
-
-
Routon, M.C.1
Robain, O.2
Mayer, M.3
-
25
-
-
0002649152
-
Sur la névrite interstitielle, hypertrophique, et progressive de l'enfance
-
Dejerine H, Sottas J. Sur la névrite interstitielle, hypertrophique, et progressive de l'enfance. C R Soc Biol 1893;45:63-96.
-
(1893)
C R Soc Biol
, vol.45
, pp. 63-96
-
-
Dejerine, H.1
Sottas, J.2
-
26
-
-
0015007491
-
Recessively inherited Charcot-Marie-Tooth syndrome in identical twins
-
original articles series
-
Beighton PH. Recessively inherited Charcot-Marie-Tooth syndrome in identical twins. In: The second conference on the clinical delineation of birth defects, vol. 7, original articles series. 1971:105.
-
(1971)
The Second Conference on the Clinical Delineation of Birth Defects
, vol.7
, pp. 105
-
-
Beighton, P.H.1
-
27
-
-
0014633080
-
A recessively inherited mixed polyneuropathy of early onset
-
Mahloudji M. A recessively inherited mixed polyneuropathy of early onset. J Med Genet 1969;6:411-412.
-
(1969)
J Med Genet
, vol.6
, pp. 411-412
-
-
Mahloudji, M.1
-
28
-
-
0021745129
-
Two cases of congenital hypomyelination neuropathy
-
Tashi N, Ishikama Y, Minami R. Two cases of congenital hypomyelination neuropathy. Brain Dev 1984;6:560-565.
-
(1984)
Brain Dev
, vol.6
, pp. 560-565
-
-
Tashi, N.1
Ishikama, Y.2
Minami, R.3
-
29
-
-
0024322088
-
Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding
-
Onishi A, Yoshiyuki M, Ikeda M, et al. Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding. Muscle Nerve 1989;12:568-575.
-
(1989)
Muscle Nerve
, vol.12
, pp. 568-575
-
-
Onishi, A.1
Yoshiyuki, M.2
Ikeda, M.3
-
30
-
-
0014721034
-
Amyotrophie neurogène familiale proche de la maladie de Charcot-Marie-Tooth
-
Paris
-
Vital C, Julien J, Vallat JM, Le Blanc M. Amyotrophie neurogène familiale proche de la maladie de Charcot-Marie-Tooth. Rev Neurol (Paris) 1970;122:15-28.
-
(1970)
Rev Neurol
, vol.122
, pp. 15-28
-
-
Vital, C.1
Julien, J.2
Vallat, J.M.3
Le Blanc, M.4
-
31
-
-
0027422165
-
De novo mutation of the myelin P(0) gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)
-
Hayasaka K, Himoro M, Sawaiachi Y, Nanao K, et al. De novo mutation of the myelin P(0) gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III). Nat Genet 1993;5:266-268.
-
(1993)
Nat Genet
, vol.5
, pp. 266-268
-
-
Hayasaka, K.1
Himoro, M.2
Sawaiachi, Y.3
Nanao, K.4
-
32
-
-
0027489565
-
Evidence for a recessive PMP 22 point mutation in Charcot-Marie-Tooth type 1A
-
Roa B, Garcia C, Pentao L, et al. Evidence for a recessive PMP 22 point mutation in Charcot-Marie-Tooth type 1A. Nat Genet 1993;5:189-194.
-
(1993)
Nat Genet
, vol.5
, pp. 189-194
-
-
Roa, B.1
Garcia, C.2
Pentao, L.3
-
34
-
-
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
-
35
-
-
0028956945
-
Assignment of microsatellite sequences to the region duplicated in CMT1a (17p12): A useful tool for diagnosis
-
Cudrey C, Chevillard C, Le Paslier D, et al. Assignment of microsatellite sequences to the region duplicated in CMT1A (17p12): a useful tool for diagnosis. J Med Genet 1995;32:231-233.
-
(1995)
J Med Genet
, vol.32
, pp. 231-233
-
-
Cudrey, C.1
Chevillard, C.2
Le Paslier, D.3
-
36
-
-
0030040754
-
Microsatellite mapping of the deletion in patients with hereditary neuropathy with liability to pressure palsies (HNPP): New molecular tools for the study of the 17p11-p12 region and for diagnosis
-
LeGuern E, Ravisé N, Gouider R, et al. Microsatellite mapping of the deletion in patients with hereditary neuropathy with liability to pressure palsies (HNPP): new molecular tools for the study of the 17p11-p12 region and for diagnosis. Cytogenet Cell Genet 1996;72:20-25.
-
(1996)
Cytogenet Cell Genet
, vol.72
, pp. 20-25
-
-
LeGuern, E.1
Ravisé, N.2
Gouider, R.3
-
37
-
-
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
-
39
-
-
0027491703
-
Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q
-
Ben Othmane K, Hentati F, Lennon F, et al. Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Hum Mol Genet 1993;10:1625-1628.
-
(1993)
Hum Mol Genet
, vol.10
, pp. 1625-1628
-
-
Ben Othmane, K.1
Hentati, F.2
Lennon, F.3
-
40
-
-
0029128280
-
Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A
-
Ben Othmane, KB, Loeb D, Hayworth-Hodgte R, et al. Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A. Genomics 1995;28:286-290.
-
(1995)
Genomics
, vol.28
, pp. 286-290
-
-
Ben Othmane, K.B.1
Loeb, D.2
Hayworth-Hodgte, R.3
-
41
-
-
0016266593
-
Genetic and clinical aspects of Charcot-Marie-Tooth disease
-
Skre H. Genetic and clinical aspects of Charcot-Marie-Tooth disease. Clin Genet 1974;6:98-118.
-
(1974)
Clin Genet
, vol.6
, pp. 98-118
-
-
Skre, H.1
-
43
-
-
0018869302
-
Clinical and pathological features of an autosomal recessive neuropathy
-
Bouldin TW, Riley E, Hall CD, Swift M. Clinical and pathological features of an autosomal recessive neuropathy. J Neurol Sci 1980;46:315-323.
-
(1980)
J Neurol Sci
, vol.46
, pp. 315-323
-
-
Bouldin, T.W.1
Riley, E.2
Hall, C.D.3
Swift, M.4
-
44
-
-
0021331485
-
Autosomal recessive inheritance of Charcot-Marie-Tooth disease with sensorineural deafness
-
Cornell J, Sellars S, Beighton P, et al. Autosomal recessive inheritance of Charcot-Marie-Tooth disease with sensorineural deafness. Clin Genet 1984;25:163-165.
-
(1984)
Clin Genet
, vol.25
, pp. 163-165
-
-
Cornell, J.1
Sellars, S.2
Beighton, P.3
-
45
-
-
0342801982
-
Hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease) with nerve defect: A new variant
-
Hamiel OP, Raas Rothschild A, Upadhyaya M, et al. Hereditary motor and sensory neuropathy (Charcot-Marie-Tooth disease) with nerve defect: a new variant. J Pediatr 1993;4:123-431.
-
(1993)
J Pediatr
, vol.4
, pp. 123-431
-
-
Hamiel, O.P.1
Raas Rothschild, A.2
Upadhyaya, M.3
-
46
-
-
0019119107
-
Three cases of Charcot-Marie-Tooth disease with neural deafness: The classification and sural nerve pathology
-
Kim I, Onishi A, Kuroiwa A. Three cases of Charcot-Marie-Tooth disease with neural deafness: the classification and sural nerve pathology. Clin Neurol 1980;20:264-270.
-
(1980)
Clin Neurol
, vol.20
, pp. 264-270
-
-
Kim, I.1
Onishi, A.2
Kuroiwa, A.3
-
47
-
-
0342367057
-
Inheritance of Charcot-Marie-Tooth disease with sensory neural hearing loss
-
Koussef BG. Inheritance of Charcot-Marie-Tooth disease with sensory neural hearing loss. Clin Res 1982;30:292-A.
-
(1982)
Clin Res
, vol.30
-
-
Koussef, B.G.1
-
48
-
-
0014126228
-
Familal opticoacoustic nerve degeneration and polyneuropathy
-
Rosenberg RN, Chutorian A. Familal opticoacoustic nerve degeneration and polyneuropathy. Neurology 1967;17:827-832.
-
(1967)
Neurology
, vol.17
, pp. 827-832
-
-
Rosenberg, R.N.1
Chutorian, A.2
-
49
-
-
0014764790
-
Optic atrophy, neural deafness and distal neurogenic amyotrophy: Report of a family with two affected siblings
-
Iwashita H, Inoua N, Araki S, Kiriowa Y. Optic atrophy, neural deafness and distal neurogenic amyotrophy: report of a family with two affected siblings. Arch Neurol 1970;22:357-364.
-
(1970)
Arch Neurol
, vol.22
, pp. 357-364
-
-
Iwashita, H.1
Inoua, N.2
Araki, S.3
Kiriowa, Y.4
-
50
-
-
0027270106
-
Hereditary demyelinating motor and sensory neuropathies
-
Gabreëls-Festen A, Gabreëls F. Hereditary demyelinating motor and sensory neuropathies. Brain Pathol 1993;3:135-146.
-
(1993)
Brain Pathol
, vol.3
, pp. 135-146
-
-
Gabreëls-Festen, A.1
Gabreëls, F.2
-
51
-
-
0025645977
-
Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths
-
Gabreëls-Festen AAW, Joosten EMG, Gabreëls FJM, et al. Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths. Brain 1990;113:1629-1643.
-
(1990)
Brain
, vol.113
, pp. 1629-1643
-
-
Gabreëls-Festen, A.A.W.1
Joosten, E.M.G.2
Gabreëls, F.J.M.3
-
52
-
-
0019462854
-
Les atrophies peronières en Tunisie: Etude de 70 observations pures ou associées à d'autres affections hérédodégénératives
-
Ben Hamida M, Letaief F, Benhamida C, Samoud S. Les atrophies peronières en Tunisie: Etude de 70 observations pures ou associées à d'autres affections hérédodégénératives. J Neurol Sci 1981;50:335-356.
-
(1981)
J Neurol Sci
, vol.50
, pp. 335-356
-
-
Ben Hamida, M.1
Letaief, F.2
Benhamida, C.3
Samoud, S.4
|