-
1
-
-
0004102539
-
The genetics of neurological disorders
-
Molunsky AG, Bobrow MB, Harper PS, Scriver C (eds): 2nd ed. Oxford, U.K: Oxford University Press
-
Baraister M (1990): The genetics of neurological disorders. In Molunsky AG, Bobrow MB, Harper PS, Scriver C (eds): "Oxford Monograph on Medical Genetics." Vol. 18. 2nd ed. Oxford, U.K: Oxford University Press, pp 238-239.
-
(1990)
Oxford Monograph on Medical Genetics
, vol.18
, pp. 238-239
-
-
Baraister, M.1
-
2
-
-
0027502993
-
Linkage localization of X-linked Charcot-Marie-Tooth disease
-
Bergoffen J, Troffater J, Pericak-Vance MA, Haines JL, Chance PF, Fischbeck KH (1993a): Linkage localization of X-linked Charcot-Marie-Tooth disease. Am J Hum Genet 52:312-318.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 312-318
-
-
Bergoffen, J.1
Troffater, J.2
Pericak-Vance, M.A.3
Haines, J.L.4
Chance, P.F.5
Fischbeck, K.H.6
-
3
-
-
0027772413
-
Connexin mutations in X-linked Charcot-Marie-Tooth disease
-
Bergoffen J, Scherer SS, Wang S, Scott MO, Bone LJ, Paul DI, Chen K, Lensch MW, Chance PF, Fischbeck KH (1993b): Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science 262: 2039-2041.
-
(1993)
Science
, vol.262
, pp. 2039-2041
-
-
Bergoffen, J.1
Scherer, S.S.2
Wang, S.3
Scott, M.O.4
Bone, L.J.5
Paul, D.I.6
Chen, K.7
Lensch, M.W.8
Chance, P.F.9
Fischbeck, K.H.10
-
4
-
-
0029431669
-
New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease
-
Bone LJ, Dahl N, Lensch MW, Chance PF, Kelly TE, Le Guern E, Mage S, Parry G, Shapiro H, Wang S, Fischbeck KH (1995): New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease. Neurol 45:1863-1866.
-
(1995)
Neurol
, vol.45
, pp. 1863-1866
-
-
Bone, L.J.1
Dahl, N.2
Lensch, M.W.3
Chance, P.F.4
Kelly, T.E.5
Le Guern, E.6
Mage, S.7
Parry, G.8
Shapiro, H.9
Wang, S.10
Fischbeck, K.H.11
-
5
-
-
0028326190
-
X-linked Charcot-Marie-Tooth disease (CMTX1): A study of 15 families with 12 highly informative polymorphisms
-
Cochrane S, Bergoffen J, Fairweather ND, Muller E, Mostacciuolo ML, Monaco AP, Fischbeck KH, Haites NE (1994): X-linked Charcot-Marie-Tooth disease (CMTX1): A study of 15 families with 12 highly informative polymorphisms. J Med Genet 31:193-196.
-
(1994)
J Med Genet
, vol.31
, pp. 193-196
-
-
Cochrane, S.1
Bergoffen, J.2
Fairweather, N.D.3
Muller, E.4
Mostacciuolo, M.L.5
Monaco, A.P.6
Fischbeck, K.H.7
Haites, N.E.8
-
6
-
-
0026683603
-
Refined localization of human connexin32 gene locus, GJB1, to Xq13.1
-
Corocs IA, Lafreniere RG, Begy CR, Loch-Caruso R, Willard HF, Glover TW (1992): Refined localization of human connexin32 gene locus, GJB1, to Xq13.1. Genomics 13:479-480.
-
(1992)
Genomics
, vol.13
, pp. 479-480
-
-
Corocs, I.A.1
Lafreniere, R.G.2
Begy, C.R.3
Loch-Caruso, R.4
Willard, H.F.5
Glover, T.W.6
-
7
-
-
0028014579
-
Mutations in the connexin32 Gene in X-linked Dominant Charcot-Marie-Tooth Disease (CMTX1)
-
Fairweather N, Bell C, Cochrane S, Chelly J, Wang S, Mostacciuolo ML, Monaco AP, Haites NE (1994): Mutations in the connexin32 Gene in X-linked Dominant Charcot-Marie-Tooth Disease (CMTX1). Hum Mol Genet 3:29-34.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 29-34
-
-
Fairweather, N.1
Bell, C.2
Cochrane, S.3
Chelly, J.4
Wang, S.5
Mostacciuolo, M.L.6
Monaco, A.P.7
Haites, N.E.8
-
8
-
-
0021908106
-
Suggestion of linkage with a cloned DNA sequence from the proximal Xq
-
X-linked dominant Charcot-Marie-Tooth disease
-
Gal A, Mucke J, Theile H, Wieacker PF, Ropers HH, Wienker TF: X-linked dominant Charcot-Marie-Tooth disease (1985): Suggestion of linkage with a cloned DNA sequence from the proximal Xq. Hum Genet 70:38-42.
-
(1985)
Hum Genet
, vol.70
, pp. 38-42
-
-
Gal, A.1
Mucke, J.2
Theile, H.3
Wieacker, P.F.4
Ropers, H.H.5
Wienker, T.F.6
-
9
-
-
0028088839
-
Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy
-
Ionasescu V, Searby C, Ionasescu R (1994): Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Hum Mol Genet 3:355-358.
-
(1994)
Hum Mol Genet
, vol.3
, pp. 355-358
-
-
Ionasescu, V.1
Searby, C.2
Ionasescu, R.3
-
10
-
-
0342499587
-
Strategies for multilocus linkage analysis in humans
-
Lathrop ES, Lalouel JM, Julier C, Ott J (1984): Strategies for multilocus linkage analysis in humans. PNAS 81:3443-3446.
-
(1984)
PNAS
, vol.81
, pp. 3443-3446
-
-
Lathrop, E.S.1
Lalouel, J.M.2
Julier, C.3
Ott, J.4
-
11
-
-
0026005970
-
Single gene neurological disorders in South Wales; an epidemiological study
-
MacMillan JC, Harper PS (1991): Single gene neurological disorders in South Wales; an epidemiological study. Ann Neurol 30: 411-414.
-
(1991)
Ann Neurol
, vol.30
, pp. 411-414
-
-
MacMillan, J.C.1
Harper, P.S.2
-
13
-
-
0027723256
-
Intermediate nerve conduction velocities serve to define X-linked Charcot-Marie-Tooth neuropathy families
-
Nicholson G, Nash J (1993): Intermediate nerve conduction velocities serve to define X-linked Charcot-Marie-Tooth neuropathy families. Neurology 43:2558-2564.
-
(1993)
Neurology
, vol.43
, pp. 2558-2564
-
-
Nicholson, G.1
Nash, J.2
-
14
-
-
0021848011
-
Hereditary motor-sensory neuropathy (HMSN): Possible X-linked dominant inheritance
-
Phillips LH, Kelly TE, Schnatterly P, Parker D (1985): Hereditary motor-sensory neuropathy (HMSN): Possible X-linked dominant inheritance. Neurology 35:498-501.
-
(1985)
Neurology
, vol.35
, pp. 498-501
-
-
Phillips, L.H.1
Kelly, T.E.2
Schnatterly, P.3
Parker, D.4
|