-
1
-
-
0018817642
-
Autosomal recessive forms of hereditary motor and sensory neuropathy
-
Harding A.E., Thomas P.K. Autosomal recessive forms of hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry. 43:1980;669-678.
-
(1980)
J Neurol Neurosurg Psychiatry
, vol.43
, pp. 669-678
-
-
Harding, A.E.1
Thomas, P.K.2
-
2
-
-
0026761768
-
Autosomal recessive form of hereditary motor and sensory neuropathy type 1
-
Gabreels-Festen A.A.W.M., Gabreels F.J.M., Jennekens F.G.I., Joosten E.M.G., Janssen-van Kempen T.W. Autosomal recessive form of hereditary motor and sensory neuropathy type 1. Neurology. 42:1992;1755-1761.
-
(1992)
Neurology
, vol.42
, pp. 1755-1761
-
-
Gabreels-Festen, A.A.W.M.1
Gabreels, F.J.M.2
Jennekens, F.G.I.3
Joosten, E.M.G.4
Janssen-Van Kempen, T.W.5
-
3
-
-
0027270106
-
Hereditary demyelinating motor and sensory neuropathy
-
Gabreels-Festen A., Gabreels F. Hereditary demyelinating motor and sensory neuropathy. Brain Pathol. 3:1993;136-146.
-
(1993)
Brain Pathol
, vol.3
, pp. 136-146
-
-
Gabreels-Festen, A.1
Gabreels, F.2
-
5
-
-
0027491703
-
Linkage of a locus (CMT4A) for autosomal recessive Charcot, Marie and Tooth disease to chromosome 8q
-
Ben Othmane K, Hentati F, Ben Hamida C, et al. Linkage of a locus (CMT4A) for autosomal recessive Charcot, Marie and Tooth disease to chromosome 8q. Human Mol Genet 1993;2:1625-1628.
-
(1993)
Human Mol Genet
, vol.2
, pp. 1625-1628
-
-
Ben Othmane, K.1
Hentati, F.2
Ben Hamida, C.3
-
6
-
-
0030015647
-
Localisation of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing
-
Bolino A., Brancolini V., Bono F., et al. Localisation of a gene responsible for autosomal recessive demyelinating neuropathy with focally folded sheaths to chromosome 11q23 by homozygosity mapping and haplotype sharing. Hum Mol Genet. 5:1996;1051-1054.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1051-1054
-
-
Bolino, A.1
Brancolini, V.2
Bono, F.3
-
7
-
-
0029849358
-
Homozygosity mapping of a form of demyelinating Charcott-Marie-Tooth disease to chromosome 5q23-q33
-
Le Guern E., Guilbot A., Kessali M., et al. Homozygosity mapping of a form of demyelinating Charcott-Marie-Tooth disease to chromosome 5q23-q33. Hum Mol Genet. 5:1996;1685-1688.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1685-1688
-
-
Le Guern, E.1
Guilbot, A.2
Kessali, M.3
-
8
-
-
16044365767
-
Gene mapping in gypsies identifies a novel demyelinating neuropathy on chromosome 8q24
-
Kalaydjieva L., Lallmayer J., Chandler D., et al. Gene mapping in gypsies identifies a novel demyelinating neuropathy on chromosome 8q24. Nat Genet. 14:1996;214-217.
-
(1996)
Nat Genet
, vol.14
, pp. 214-217
-
-
Kalaydjieva, L.1
Lallmayer, J.2
Chandler, D.3
-
9
-
-
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., et al. Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family. Neurology. 46:1996;1318-1324.
-
(1996)
Neurology
, vol.46
, pp. 1318-1324
-
-
Quattrone, A.1
Gambardella, A.2
-
10
-
-
0030900182
-
A clinical, electrophysiologic, neuropathologic and genetic study of two large families with an autosomal recessive demyelinating Charcot-Marie-Tooth disease
-
Kessali M, Zemmouri R, Guilbot A, et al. A clinical, electrophysiologic, neuropathologic and genetic study of two large families with an autosomal recessive demyelinating Charcot-Marie-Tooth disease. Neurology 1997;48;867- 873.
-
(1997)
Neurology
, vol.48
, pp. 867-873
-
-
Kessali, M.1
Zemmouri, R.2
Guilbot, A.3
-
11
-
-
0031882018
-
Hereditary motor and sensory neuropathy-Lom (HMSNL), a novel demyelinating neuropathy associated with deafness in Gypsies: Clinical, electrophysiologic and nerve biopsy findings
-
Kaladjieva L., Nikolova A., Hristova A., et al. Hereditary motor and sensory neuropathy-Lom (HMSNL), a novel demyelinating neuropathy associated with deafness in Gypsies: clinical, electrophysiologic and nerve biopsy findings. Brain. 121:1998;399-408.
-
(1998)
Brain
, vol.121
, pp. 399-408
-
-
Kaladjieva, L.1
Nikolova, A.2
Hristova, A.3
-
14
-
-
0023266342
-
Variability of morphological features in early infantile polyneuropathy with defective myelination
-
Vital A., Vital C., Riviere J.P., Brechenmacher C., Marot J. Variability of morphological features in early infantile polyneuropathy with defective myelination. Acta Neuropathol (Berl). 73:1987;295-300.
-
(1987)
Acta Neuropathol (Berl)
, vol.73
, pp. 295-300
-
-
Vital, A.1
Vital, C.2
Riviere, J.P.3
Brechenmacher, C.4
Marot, J.5
-
15
-
-
0023194132
-
Congenital hypo- And hypermyelination neuropathy
-
Vallat J.M., Gil R., Leboutet M.J., Hugon J., Moulies D. Congenital hypo- and hypermyelination neuropathy. Acta Neuropathol (Berl). 74:1987;197-201.
-
(1987)
Acta Neuropathol (Berl)
, vol.74
, pp. 197-201
-
-
Vallat, J.M.1
Gil, R.2
Leboutet, M.J.3
Hugon, J.4
Moulies, D.5
-
16
-
-
0024322088
-
Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding
-
Ohnishi A., Murai Y., Ikeda M., et al. Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding. Muscle Nerve. 112:1989;568-575.
-
(1989)
Muscle Nerve
, vol.112
, pp. 568-575
-
-
Ohnishi, A.1
Murai, Y.2
Ikeda, M.3
-
17
-
-
0025645977
-
Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths
-
Gabreels-Festen A.A.W.M., Joosten E.M.G., Gabreels F.J.M., et al. Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths. Brain. 113:1990;1629-1643.
-
(1990)
Brain
, vol.113
, pp. 1629-1643
-
-
Gabreels-Festen, A.A.W.M.1
Joosten, E.M.G.2
Gabreels, F.J.M.3
-
18
-
-
0028279940
-
Hereditary motor and sensory neuropathy with excessive myelin outfolding: Clinical, genetic and neuropathologic study of three cases
-
Schenone A., Abbruzzese M., Ucceli A., et al. Hereditary motor and sensory neuropathy with excessive myelin outfolding: clinical, genetic and neuropathologic study of three cases. J Neurol Sci. 122:1994;20-27.
-
(1994)
J Neurol Sci
, vol.122
, pp. 20-27
-
-
Schenone, A.1
Abbruzzese, M.2
Ucceli, A.3
-
19
-
-
0028314118
-
Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding in two siblings
-
Barbieri F., Santangelo R., Capparelli G., Ciccareli A., Crisci C. Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding in two siblings. Can J Neurol Sci. 21:1994;29-33.
-
(1994)
Can J Neurol Sci
, vol.21
, pp. 29-33
-
-
Barbieri, F.1
Santangelo, R.2
Capparelli, G.3
Ciccareli, A.4
Crisci, C.5
-
21
-
-
0027504559
-
Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex
-
Umehara F., Takenaga S., Nakagawa M., et al. Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex. Acta Neuropathol (Berl). 86:1993;602-608.
-
(1993)
Acta Neuropathol (Berl)
, vol.86
, pp. 602-608
-
-
Umehara, F.1
Takenaga, S.2
Nakagawa, M.3
-
23
-
-
0028856423
-
Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygocity mapping and carrier testing in a single nuclear family
-
Nadal N., Rolland M.O., Tranchant C., et al. Localization of Refsum disease with increased pipecolic acidaemia to chromosome 10p by homozygocity mapping and carrier testing in a single nuclear family. Human Mol Genet. 4:(1963):1995;1966.
-
(1995)
Human Mol Genet
, vol.4
, Issue.1963
, pp. 1966
-
-
Nadal, N.1
Rolland, M.O.2
Tranchant, C.3
-
24
-
-
0031942903
-
Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B)
-
Gambardella A., Bolino A., Muglia M., et al. Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B). Neurology. 50:1998;799-801.
-
(1998)
Neurology
, vol.50
, pp. 799-801
-
-
Gambardella, A.1
Bolino, A.2
Muglia, M.3
|