-
1
-
-
0028784820
-
Hypermyelination and demyelinating peripheral neuropathy in PMP22-deficient mice
-
ADLKOFER K., MARTINI R. AGUZZI A. et aJ., (1995). Hypermyelination and demyelinating peripheral neuropathy in PMP22-deficient mice. Nat Genet 11: 274-280.
-
(1995)
Nat Genet
, vol.11
, pp. 274-280
-
-
Adlkofer, K.1
Martini, R.2
Aguzzi, A.3
-
2
-
-
0030883723
-
Analysis of compound heterozygous mice reveals that the Trembler mutation can behave as a gain-of-function allele
-
ADLKOFER K., NAEF R., SUTER U. (1997). Analysis of compound heterozygous mice reveals that the Trembler mutation can behave as a gain-of-function allele. J Neurosci Res 46: 671-680.
-
(1997)
J Neurosci Res
, vol.46
, pp. 671-680
-
-
Adlkofer, K.1
Naef, R.2
Suter, U.3
-
3
-
-
0023944411
-
Congenital absence of peripheral myelin: Abnormal Schwann cell development causes lethal arthrogryposis multiplex congenita
-
CHARMAS L, TRAPP B., GRIFFIN J. (1988). Congenital absence of peripheral myelin: abnormal Schwann cell development causes lethal arthrogryposis multiplex congenita. Neurology 38: 966-974.
-
(1988)
Neurology
, vol.38
, pp. 966-974
-
-
Charmas, L.1
Trapp, B.2
Griffin, J.3
-
4
-
-
0002649152
-
Sur la névrite interstitielle, hypertrophique et progressive de l'enfance
-
DEJERINE J., SOTTAS J. (1983). Sur la névrite interstitielle, hypertrophique et progressive de l'enfance. C R Soc Biol 45: 63-96.
-
(1983)
C R Soc Biol
, vol.45
, pp. 63-96
-
-
Dejerine, J.1
Sottas, J.2
-
5
-
-
0013970972
-
Histologie measurements and fine structure of biopsied sural nerve: Normal, and in peroneal muscular atrophy, hypertrophie neuropathy, and congenital sensory neuropathy
-
DYCK P.J., (1966). Histologie measurements and fine structure of biopsied sural nerve: normal, and in peroneal muscular atrophy, hypertrophie neuropathy, and congenital sensory neuropathy. Mayo Clin Proc 41: 742-774.
-
(1966)
Mayo Clin Proc
, vol.41
, pp. 742-774
-
-
Dyck, P.J.1
-
6
-
-
0001768884
-
Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory, and autonomie neurons
-
DYCK P.J. (1975). Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory, and autonomie neurons. In DYCK P.J., THOMAS P.K., LAMBERT E.H. (eds). Peripheral Neuropathy, Vol 2.2nd Ed. pp825-867 WB Saunders. Philadelphia and London.
-
(1975)
In DYCK P.J., THOMAS P.K., LAMBERT E.H. (Eds). Peripheral Neuropathy
, vol.2
, pp. 825-867
-
-
Dyck, P.J.1
-
8
-
-
0026761768
-
Autosomal recessive HMSN type I with basal lamina onion bulbs
-
GABREëLS-FESTEN A.A.W.M., GABREëLS F.J.M., JENNEKENS F.G.I., JOOSTEN E.M.G., JANSSEN-VAN KEMPEN (1992). Autosomal recessive HMSN type I with basal lamina onion bulbs. Neurology 42 : 1755-1762.
-
(1992)
Neurology
, vol.42
, pp. 1755-1762
-
-
Jennekens, F.G.I.1
Joosten, E.M.G.2
Kempen, J.-V.3
-
10
-
-
0028800889
-
Charcot-Marie-Tooth disease type la: Morphological phenotype of the 17p duplication versus PMP22 point mutations
-
GABREëLS-FESTEN A.A.W.M., BomuisPA, HOOGENDIJKJ.E.,VALENTUN L.J., ESHUIS E.J.H.M., GABREëLS F.J.M. (1995). Charcot-Marie-Tooth disease type la: morphological phenotype of the 17p duplication versus PMP22 point mutations. Acta Neuropathol (Berlin) 90:645-649.
-
(1995)
Acta Neuropathol (Berlin)
, vol.90
, pp. 645-649
-
-
Gabreëls-Festen, A.A.W.M.1
Bomuis, P.A.2
Hoogendijk, J.E.3
Valentun, L.J.4
Eshuis, E.J.H.M.5
Gabreëls, F.J.M.6
-
11
-
-
0041114444
-
Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie- Tooth disease
-
GABREëLS-FESTEN A.A.W.M., HOOGENDUK U.E., MEIJERINK P.H.S., GABREëLS F.J.M., BOLHUIS P.A., VAN BEERSUM S., KULKENS T., NEUS E. JENNEKENS F.G.I., de VISSER M., VAN ENGLEN B.G.M.; VAN BROECKHOVEN C., MARIMAN E.C.M. (1996). Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie- tooth disease. Neurology 47:761-765.
-
(1996)
Neurology
, vol.47
, pp. 761-765
-
-
Gabreëls-Festen, A.A.W.M.1
Hoogenduk, U.E.2
Meijerink, P.H.S.3
Gabreëls, F.J.M.4
Bolhuis, P.A.5
Van Beersum, S.6
Kulkens, T.7
Neus, E.8
Jennekens, F.G.I.9
De Visser, M.10
Van Englen, B.G.M.11
Van Broeckhoven, C.12
Mariman, E.C.M.13
-
12
-
-
33847428482
-
Congenital hypomyelinating neuropathy: A reversible case
-
GHAMDI M., ARMSTRONG D., MILLER G. (1997). Congenital hypomyelinating neuropathy: a reversible case. Fed Neurol 76:71 -73.
-
(1997)
Fed Neurol
, vol.76
, pp. 71-73
-
-
Ghamdi, M.1
Armstrong, D.2
Miller, G.3
-
13
-
-
0026615047
-
Mouse Po gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons
-
GIESE K.P., MARTINI R., LEMKE G., SORIANO P., SCHRACHNER M. (1992). Mouse Po gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons. Cell 71: 565-576.
-
(1992)
Cell
, vol.71
, pp. 565-576
-
-
Giese, K.P.1
Martini, R.2
Lemke, G.3
Soriano, P.4
Schrachner, M.5
-
14
-
-
33847463224
-
Congenital hypomyelination neuropathy due to a double HNPP mutation
-
GONNAUD P.M., LATOUR P., BLANQUET-GROSSARD F., KOPP N., VALLAT J.M., ISNARD H., PARET M., BRUNON A.M., PHAM-DINH D., DAUTIGNY A., VANDENBERGHE A. (1997). Congenital hypomyelination neuropathy due to a double HNPP mutation. Neurology, in press.
-
(1997)
Neurology, in Press.
-
-
Gonnaud, P.M.1
Latour, P.2
Blanquet-Grossard, F.3
Kopp, N.4
Vallat, J.M.5
Isnard, H.6
Paret, M.7
Brunon, A.M.8
Pham-Dinh, D.9
Dautigny, A.10
Vandenberghe, A.11
-
15
-
-
0019925158
-
Congenital hypomyelination polyneuropathy: Pathological findings compared with polyneuropathies starting later in life
-
GUZZETTA F., FERRIèRE G., LYON G. (1982). Congenital hypomyelination polyneuropathy: pathological findings compared with polyneuropathies starting later in life. Brain 105:395-416.
-
(1982)
Brain
, vol.105
, pp. 395-416
-
-
Guzzetta, F.1
Ferrière, G.2
Lyon, G.3
-
16
-
-
0028814973
-
Demyelinating hereditary neuropathies in children: A mor- . phometric and ultrastructural study
-
GUZZETTA F., ROORIGUEZ J., DEODATO M., GUZZETTA A., FERRIèRE G. (1995). Demyelinating hereditary neuropathies in children: a mor- . phometric and ultrastructural study. Histol Histopathol 10: 91-104.
-
(1995)
Histol Histopathol
, vol.10
, pp. 91-104
-
-
Guzzetta, F.1
Rooriguez, J.2
Deodato, M.3
Guzzetta, A.4
Ferrière, G.5
-
17
-
-
0020601789
-
Congenital hypomyelination neuropathy in a newborn
-
HAKAMADAS., KUMAGAI T., HARA K., MIYAZAKI S., MIYAZAKJ K., WATANABE K. (1983). Congenital hypomyelination neuropathy in a newborn. Neuropediatrics 14:182-183.
-
(1983)
Neuropediatrics
, vol.14
, pp. 182-183
-
-
Hakamada, S.1
Kumagai, T.2
Hara, K.3
Miyazaki, S.4
Miyazakj, K.5
Watanabe, K.6
-
18
-
-
0018942439
-
The clinical features of hereditary motor and sensory neuropathy types I and II
-
HARDING A.E., THOMAS P.K. (1980). The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 103:259-280.
-
(1980)
Brain
, vol.103
, pp. 259-280
-
-
Harding, A.E.1
Thomas, P.K.2
-
19
-
-
0023794823
-
Long lives for homozygous trembler mutant mice despite virtual absence of peripheral nerve myelin
-
HENRY E.W., SIDMAN R.L. (1988). Long lives for homozygous trembler mutant mice despite virtual absence of peripheral nerve myelin. Science 24 7:344-346.
-
(1988)
Science
, vol.24
, pp. 344-346
-
-
Henry, E.W.1
Sidman, R.L.2
-
20
-
-
0029880857
-
A novel homozygous mutation of the myelin P0, gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type 3)
-
IKEGAMI T., NlCHOLSON G., IKEDA H., ISHIDA A., JOHNSTON H., WlSE G., OUVRIER R., HAYASAKA K. (1996). A novel homozygous mutation of the myelin P0, gene producing Dejerine-Sottas disease (hereditary motor and sensory neuropathy type 3). Biochem Biophys Res Commun 222 ; 107-110.
-
(1996)
Biochem Biophys Res Commun
, vol.222
, pp. 107-110
-
-
Ikegami, T.1
Nlcholson, G.2
Ikeda, H.3
Ishida, A.4
Johnston, H.5
Wlse, G.6
Ouvrier, R.7
Hayasaka, K.8
-
21
-
-
33847431039
-
De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type 111): Two amino acid insertion after Asp 118
-
IKEGAMI T., NICHOLSON G., IKEDA H., ISHIDA A., JOHNSTON H., WISE G., OUVRIER R., HAYASAKA K. (1997). De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type 111): two amino acid insertion after Asp 118. Human Mutation: In press.
-
(1997)
Human Mutation: in Press.
-
-
Ikegami, T.1
Nicholson, G.2
Ikeda, H.3
Ishida, A.4
Johnston, H.5
Wise, G.6
Ouvrier, R.7
Hayasaka, K.8
-
22
-
-
0025237396
-
Peripheral neuropathy in Leigh's disease
-
JACOBS J.M., HARDING B.N., LAKE B.D., PAYAN J., WILSON J. (1990). Peripheral neuropathy in Leigh's disease. Brain 113:447-462.
-
(1990)
Brain
, vol.113
, pp. 447-462
-
-
Jacobs, J.M.1
Harding, B.N.2
Lake, B.D.3
Payan, J.4
Wilson, J.5
-
23
-
-
0015965401
-
Electron-microscopic heterogeneity of onion-bulb neuropathies of the Dejerine-Sottas type: Two patients in one family with the variant described by Lyon (1969)
-
JOOSTEN E., GABREëLS F., GABREëLS-FESTEN A., VRENSEN G., KöRTEN J., NOTERMANS S. (1974). Electron-microscopic heterogeneity of onion-bulb neuropathies of the Dejerine-Sottas type: two patients in one family with the variant described by Lyon (1969). Acta Neuropathol (Berlin) 27:105-118.
-
(1974)
Acta Neuropathol (Berlin)
, vol.27
, pp. 105-118
-
-
Joosten, E.1
Gabreëls, F.2
Gabreëls-Festen, A.3
Vrensen, G.4
Körten, J.5
Notermans, S.6
-
24
-
-
0027518166
-
Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17
-
KAKU D.A., PARRY G.J., MALAMUT R., LUPSKI J.R., GARCIA O.A. (1993). Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17. Neurology 43:1806-1808.
-
(1993)
Neurology
, vol.43
, pp. 1806-1808
-
-
Kaku, D.A.1
Parry, G.J.2
Malamut, R.3
Lupski, J.R.4
Garcia, O.A.5
-
25
-
-
0016834251
-
Infantile polyneuropathy with defective myelination: An autopsy study
-
KARCH S.B., URICH H. (1975). Infantile polyneuropathy with defective myelination: an autopsy study. Dev Med Child Neurol 17: 504-511.
-
(1975)
Dev Med Child Neurol
, vol.17
, pp. 504-511
-
-
Karch, S.B.1
Urich, H.2
-
26
-
-
0017116810
-
Chronic polyradiculoneuropathy of infancy; a report of three cases with familial incidence
-
KASMAN M., BERNSTEIN L, SCHULMAN S. (1976). Chronic polyradiculoneuropathy of infancy; a report of three cases with familial incidence. Neurology 26:565-573.
-
(1976)
Neurology
, vol.26
, pp. 565-573
-
-
Kasman, M.1
Bernstein, L.2
Schulman, S.3
-
27
-
-
0017377998
-
A case of congenital hypomyelination neuropathy: Clinical, morphological, and chemical studies
-
KENNEDY W.R., SUNG J.H., BERRY J.F. (1977). A case of congenital hypomyelination neuropathy: clinical, morphological, and chemical studies. Arch Neurol 34 : 337-345.
-
(1977)
Arch Neurol
, vol.34
, pp. 337-345
-
-
Kennedy, W.R.1
Sung, J.H.2
Berry, J.F.3
-
28
-
-
0018390264
-
Homozygous expression of a dominant gene for Charcot-Marie-Tooth'neuropathy
-
KILUAN J.M., KLOEPFER H.W. (1979). Homozygous expression of a dominant gene for Charcot-Marie-Tooth'neuropathy. Ann Neurol 5:515-522.
-
(1979)
Ann Neurol
, vol.5
, pp. 515-522
-
-
Kiluan, J.M.1
Kloepfer, H.W.2
-
29
-
-
33847430675
-
Répartition des mutations dans la maladie de Charcot-Marie-Tooth type I
-
and the members of the French G.M.T. consortium
-
LATOUR P., VANDENBERGHE A. and the members of the French G.M.T. consortium (1996). Répartition des mutations dans la maladie de Charcot-Marie-Tooth type I. Conference on NeuromuscularDisorders. Versailles. October 1996. Poster number 455.
-
(1996)
Conference on NeuromuscularDisorders. Versailles. October
, vol.1996
, Issue.4
, pp. 55
-
-
Latour, P.1
Vandenberghe, A.2
-
30
-
-
0031031995
-
Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type IA disease
-
LEGUERN E., GOUIDER R., MAHN D., TARDIEU S., BIROUK N., PARENT Ph., BOUCHE P., BRICE A. (1997). Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type IA disease. Ann Neurol. 47:104-108.
-
(1997)
Ann Neurol.
, vol.47
, pp. 104-108
-
-
Leguern, E.1
Gouider, R.2
Mahn, D.3
Tardieu, S.4
Birouk, N.5
Parent, P.6
Bouche, P.7
Brice, A.8
-
31
-
-
0030946228
-
Unexpected recovery in a newborn with severe hypomyelinating neuropathy
-
LEW B.K., FENTON G.A., LOAIZA S., HAYAT G.R. (1997). Unexpected recovery in a newborn with severe hypomyelinating neuropathy. Fed Neurol 16: 245-243.
-
(1997)
Fed Neurol
, vol.16
, pp. 245-1243
-
-
Lew, B.K.1
Fenton, G.A.2
Loaiza, S.3
Hayat, G.R.4
-
32
-
-
0021956867
-
Heterogeneity of congenital motor and sensory neuropathies
-
LüTSCHG E., VASSELLA F., BOLTSHAUSER E., DIAS K., MEIER C. (1985). Heterogeneity of congenital motor and sensory neuropathies. Neuropediatrics 16:33-38.
-
(1985)
Neuropediatrics
, vol.16
, pp. 33-38
-
-
Lütschg, E.1
Vassella, F.2
Boltshauser, E.3
Dias, K.4
Meier, C.5
-
35
-
-
0028824925
-
Protein zero (P0)-deficient mice show myelin degradation in peripheral nerves characteristic of inherited human neuropathies
-
MARTINI R., ZIELASEK J., TOYKA K.V. ef aJ. (1995). Protein zero (P0)-deficient mice show myelin degradation in peripheral nerves characteristic of inherited human neuropathies. Nat Genef 11 : -. 281-286.
-
(1995)
Nat Genef
, vol.11
, pp. 281-286
-
-
Martini, R.1
Zielasek, J.2
Toyka, K.V.3
-
36
-
-
33847434046
-
Different molecular mechanisms of demyelination in PO -/- And PO +/- mice
-
MENICHELLA D., Xu W., JIANG H., VALLAT J.M., SCHERER S., KAMHOLZ J., SHY M. (1997). Different molecular mechanisms of demyelination in PO -/- and PO +/- mice. Proceedings of the Peripheral Nerve Society Meeting. Cambridge 1997:152.
-
(1997)
Proceedings of the Peripheral Nerve Society Meeting. Cambridge
, vol.1997
, pp. 152
-
-
Menichella, D.1
Xu, W.2
Jiang, H.3
Vallat, J.M.4
Scherer, S.5
Kamholz, J.6
Shy, M.7
-
38
-
-
0017821140
-
Un cas de polyneuropathie périphérique néo-natale par amyélinisation
-
PALIX C., COIGNET J. (1978). Un cas de polyneuropathie périphérique néo-natale par amyélinisation. Pédiatrie 33:201 -207.
-
(1978)
Pédiatrie
, vol.33
, pp. 201-207
-
-
Palix, C.1
Coignet, J.2
-
39
-
-
33847455042
-
The clinical and histopathological features of MPZ and PMP22 mutations
-
SANDER S., OUVRIER R.A., NICHOLSON G., POLLARD J.D., McLEOD J.G. (1997). The clinical and histopathological features of MPZ and PMP22 mutations. Communication presented at the Peripheral Nerve Society Meeting, Cambridge, page 215.
-
(1997)
Communication Presented at the Peripheral Nerve Society Meeting, Cambridge
, pp. 215
-
-
Sander, S.1
Ouvrier, R.A.2
Nicholson, G.3
Pollard, J.D.4
McLeod, J.G.5
-
40
-
-
0028871827
-
Congenital hypomyelination neuropathy: Decreased expression of the P2 protein in the peripheral nerve with nor-mal DNA sequence of the coding region
-
SAWAISHI Y., HAYASAKA K., GOTO A., KAWAMURA K., ISHIGURO S., SIGAI K. etal. (1995). Congenital hypomyelination neuropathy: decreased expression of the P2 protein in the peripheral nerve with nor-mal DNA sequence of the coding region. J, Neurol Sei 134 : 150-159.
-
(1995)
J, Neurol Sei
, vol.134
, pp. 150-159
-
-
Sawaishi, Y.1
Hayasaka, K.2
Goto, A.3
Kawamura, K.4
Ishiguro, S.5
Sigai, K.6
-
41
-
-
0022892284
-
Hypomyelination neuropathy in a female newborn presenting as arthrogryposis multiplex congenita
-
SEITZ R.J., WECHSLER W, MOSNY D.S., LENARD H.G. (1986). Hypomyelination neuropathy in a female newborn presenting as arthrogryposis multiplex congenita. Neumpediatrics 17:132-136.
-
(1986)
Neumpediatrics
, vol.17
, pp. 132-136
-
-
Seitz, R.J.1
Wechsler, W.2
Mosny, D.S.3
Lenard, H.G.4
-
42
-
-
0026459691
-
HMSN III phenotype due to homozygous expression of a dominant HMSN-II gene
-
SGHIRLANZONI A, PAREYSON D, BALESTRINI M.R., BELLONE E., BERTA E., CIANO C, MANDICH P., MARAZZI R. (1992). HMSN III phenotype due to homozygous expression of a dominant HMSN-II gene. Neurology 42:2201-2203.
-
(1992)
Neurology
, vol.42
, pp. 2201-2203
-
-
Sghirlanzoni, A.1
Pareyson, D.2
Balestrini, M.R.3
Bellone, E.4
Berta, E.5
Ciano, C.6
Mandich, P.7
Marazzi, R.8
-
43
-
-
0029093622
-
Molecular basis of common hereditary motor and sensory neuropathies in humans and in mouse models
-
SNIPES G.J., SUTER u. (1995). Molecular basis of common hereditary motor and sensory neuropathies in humans and in mouse models. Brain Pathol 5: 233-247.
-
(1995)
Brain Pathol
, vol.5
, pp. 233-247
-
-
Snipes, G.J.1
Suter, U.2
-
44
-
-
0026554289
-
A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the Trembler-J mouse
-
SUTER U, MOSKOW J.J., WELCHER A.A., SNIPES G.J., KOSARAS S, SIDMAN R.L. etal. (1992). A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the Trembler-J mouse. Proc Natl Acad Sei USA 89 : 4382-4386.
-
(1992)
Proc Natl Acad Sei USA
, vol.89
, pp. 4382-4386
-
-
Suter, U.1
Moskow, J.J.2
Welcher, A.A.3
Snipes, G.J.4
Kosaras, S.5
Sidman, R.L.6
-
45
-
-
0026605507
-
Trembler mouse carries a point mutation in a myelin gene
-
SUTER U, WELCHER A.A., OZCEUK T, SNIPES G.J., KOSARAS B, FRANCKE U. et aJ. (1992). Trembler mouse carries a point mutation in a myelin gene. Nature 356: 241-244.
-
(1992)
Nature
, vol.356
, pp. 241-244
-
-
Suter, U.1
Welcher, A.A.2
Ozceuk, T.3
Snipes, G.J.4
Kosaras, B.5
Francke, U.6
-
46
-
-
0006363395
-
PMP22 and MPZ point mutations in Italian families with hereditary neuropathy with liability to pressure palsies (HNPP) and Dejerine-Sottas disease (DSD)
-
Abstract.
-
TARONI F, Bom S, SGHIRLANZONI A, PAREYSON D (1996). PMP22 and MPZ point mutations in Italian families with hereditary neuropathy with liability to pressure palsies (HNPP) and Dejerine-Sottas disease (DSD). Am J Hum Genet 59 : A288 (Abstract).
-
(1996)
Am J Hum Genet
, vol.59
-
-
Taroni, F.1
Bom, S.2
Sghirlanzoni, A.3
Pareyson, D.4
-
47
-
-
0028079552
-
Tomaculous neuropathy in chromosome I Charcot-Marie-Tooth syndrome
-
THOMAS P.P., LEBO R.V., ROSOKUJAG ef at. (1994). Tomaculous neuropathy in chromosome I Charcot-Marie-Tooth syndrome. Acta Neuropathol (Berlin) 87: 91-97.
-
(1994)
Acta Neuropathol (Berlin)
, vol.87
, pp. 91-97
-
-
Thomas, P.P.1
Lebo, R.V.2
Rosokuja, G.3
-
48
-
-
0030985749
-
The phenotypic manifestations of chromosome 17p 11. 2 duplications
-
THOMAS P.K., MARQUES W, DAVIS M.B., SWEENEY MG, KING R.H.M., BRADLEY J.L, MUDDLE J.R., TYSON J, MALCOLM S, HARDING A.B. (1997a). The phenotypic manifestations of chromosome 17p 11. 2 duplications. Brain 120: 465-478.
-
(1997)
Brain
, vol.120
, pp. 465-478
-
-
Thomas, P.K.1
Marques, W.2
Davis, M.B.3
Sweeney, M.G.4
King, R.H.M.5
Bradley, J.L.6
Muddle, J.R.7
Tyson, J.8
Malcolm, S.9
Harding, A.B.10
-
49
-
-
33847460410
-
Electrophysiological and histological examination of mice expressing varying levels of human peripheral myelin protein 22 (PMP22)
-
THOMAS P.K., PELLISIER J.F., HUSTON S, MANSON A, PASSAGE E, ROBERTSON A.M., YOUL B, FONTES M, HUXLEY C. (1997b). Electrophysiological and histological examination of mice expressing varying levels of human peripheral myelin protein 22 (PMP22). Proceedings of the Peripheral Nerve Society Meeting. Cambridge, page 219.
-
(1997)
Proceedings of the Peripheral Nerve Society Meeting. Cambridge
, pp. 219
-
-
Thomas, P.K.1
Pellisier, J.F.2
Huston, S.3
Manson, A.4
Passage, E.5
Robertson, A.M.6
Youl, B.7
Fontes, M.8
Huxley, C.9
-
50
-
-
0031044004
-
Hereditary demyelinating neuropathy of infancy
-
TYSON J, ELUS D, FAIRBROTHER U, KING R.H.M., MUNTONI F, JACOBS J, MALCOLM S, HARDING AE, THOMAS P.K. (1997). Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome. Brain 120:47-63.
-
(1997)
A Genetically Complex Syndrome. Brain
, vol.120
, pp. 47-63
-
-
Tyson, J.1
Elus, D.2
Fairbrother, U.3
King, R.H.M.4
Muntoni, F.5
Jacobs, J.6
Malcolm, S.7
Harding, A.E.8
Thomas, P.K.9
-
52
-
-
0027031611
-
Identical point mutations of the peripheral myelin protein gene PMP-22 in Trembler-J mouse and a family with Charcot-Marie-Tooth disease
-
VALENTIJN L.J., BASS F, WOLTERMAN R.A. et al. (1992). Identical point mutations of the peripheral myelin protein gene PMP-22 in Trembler-J mouse and a family with Charcot-Marie-Tooth disease. Nature Genet 2: 288-291.
-
(1992)
Nature Genet
, vol.2
, pp. 288-291
-
-
Valentijn, L.J.1
Bass, F.2
Wolterman, R.A.3
-
53
-
-
0023266342
-
Variability of morphological features in early infantile polyneuropathy with defective myelination
-
VITAL A, VITAL C, RIVIERE J.P., BRECHENMACHER C, MAROT J. (1987). Variability of morphological features in early infantile polyneuropathy with defective myelination. Acta Neuropathol (Berlin) 73: 295-300.
-
(1987)
Acta Neuropathol (Berlin)
, vol.73
, pp. 295-300
-
-
Vital, A.1
Vital, C.2
Riviere, J.P.3
Brechenmacher, C.4
Marot, J.5
-
54
-
-
16044362374
-
Clinical phenotypes of different MPZ (Po) mutations may include CharcotMarie-Tooth type IB, Dejerine-Sottas, and congenital hypomyelination
-
WARNER LE., HILZ M.J., APPEL S.H., KILLJAN J.M., KOLODNY E.H., KARPATI G, CARPENTER S, WATTERS G.V., WHEELER C, WITT D, BODELL A, NEUS E, VAN BROECKHOVEN C, LUPSKI J.R. (1996). Clinical phenotypes of different MPZ (Po) mutations may include CharcotMarie-Tooth type IB, Dejerine-Sottas, and congenital hypomyelination. Neuron 17 ::451-460.
-
(1996)
Neuron
, vol.17
, pp. 451-460
-
-
Warner, L.E.1
Hilz, M.J.2
Appel, S.H.3
Killjan, J.M.4
Kolodny, E.H.5
Karpati, G.6
Carpenter, S.7
Watters, G.V.8
Wheeler, C.9
Witt, D.10
Bodell, A.11
Neus, E.12
Van Broeckhoven, C.13
Lupski, J.R.14
|