-
1
-
-
0028059579
-
Analysis of CAG trinucleotide repeats from mouse cDNA sequences
-
Abbott C, Chambers D (1994): Analysis of CAG trinucleotide repeats from mouse cDNA sequences. Ann Hum Genet 58:87-94.
-
(1994)
Ann Hum Genet
, vol.58
, pp. 87-94
-
-
Abbott, C.1
Chambers, D.2
-
2
-
-
0025189723
-
Mitochondrial myopathy and preeclampsia associated with pregnancy
-
Berkowitz K, Monteagudo A, Marks F, Jackson U, Baxi L (1990): Mitochondrial myopathy and preeclampsia associated with pregnancy. Am J Obstet Gynecol 162:146-147.
-
(1990)
Am J Obstet Gynecol
, vol.162
, pp. 146-147
-
-
Berkowitz, K.1
Monteagudo, A.2
Marks, F.3
Jackson, U.4
Baxi, L.5
-
4
-
-
0015170146
-
The nosology of the spinal muscular atrophies
-
Emery AEH (1971): The nosology of the spinal muscular atrophies. J Med Genet 8:481-495.
-
(1971)
J Med Genet
, vol.8
, pp. 481-495
-
-
Emery, A.E.H.1
-
5
-
-
0011290722
-
The molecular and genetic basis of the spinal muscular atrophies
-
Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, Kunkel LM (eds): Stoneham, MA: Butterworth-Heinemann
-
Gilliam TC, Brzustowicz LM (1993): The molecular and genetic basis of the spinal muscular atrophies. In Rosenberg RN, Prusiner SB, DiMauro S, Barchi RL, Kunkel LM (eds): "The Molecular and Genetic Basis of Neurological Disease." Stoneham, MA: Butterworth-Heinemann, pp 883-887.
-
(1993)
The Molecular and Genetic Basis of Neurological Disease
, pp. 883-887
-
-
Gilliam, T.C.1
Brzustowicz, L.M.2
-
6
-
-
0026601924
-
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
-
Harley HG, Brook JD, Rundle SA, Crow S, Reardon W, Buckler AJ, Harper PS, Housman DE, Shaw DJ (1992): Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy. Nature 355:545-546.
-
(1992)
Nature
, vol.355
, pp. 545-546
-
-
Harley, H.G.1
Brook, J.D.2
Rundle, S.A.3
Crow, S.4
Reardon, W.5
Buckler, A.J.6
Harper, P.S.7
Housman, D.E.8
Shaw, D.J.9
-
8
-
-
2842556522
-
Neurological disorders
-
De Swiet M (ed): Oxford: Blackwell Scientific
-
Hopkins A (1989): Neurological disorders. In De Swiet M (ed): "Medical Disorders in Obstetric Practice." Oxford: Blackwell Scientific, pp 759-761.
-
(1989)
Medical Disorders in Obstetric Practice
, pp. 759-761
-
-
Hopkins, A.1
-
9
-
-
0028143527
-
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
-
Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, Kawakami H, Nakamura S, Nishimura M, Akiguchi I, Kimura J, Naruraiya S, Kakizuka A (1994): CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet 8:221-227.
-
(1994)
Nature Genet
, vol.8
, pp. 221-227
-
-
Kawaguchi, Y.1
Okamoto, T.2
Taniwaki, M.3
Aizawa, M.4
Inoue, M.5
Katayama, S.6
Kawakami, H.7
Nakamura, S.8
Nishimura, M.9
Akiguchi, I.10
Kimura, J.11
Naruraiya, S.12
Kakizuka, A.13
-
10
-
-
0028216760
-
Unstable expansion of CAG repeat in hereditary denatorubral-pallidoluysian atrophy (DR-PLA)
-
Koide R, Ikeuchi T, Onodera O, Tanaka H, Igarashi S, Endo K, Takahashi H, Kondo R, Ishikawa A, Hayashi T, Saito M, Tomoda A, Miike T, Naito H, Ikuta F, Tsuji S (1994): Unstable expansion of CAG repeat in hereditary denatorubral-pallidoluysian atrophy (DR-PLA). Nature Genet 6:9-13.
-
(1994)
Nature Genet
, vol.6
, pp. 9-13
-
-
Koide, R.1
Ikeuchi, T.2
Onodera, O.3
Tanaka, H.4
Igarashi, S.5
Endo, K.6
Takahashi, H.7
Kondo, R.8
Ishikawa, A.9
Hayashi, T.10
Saito, M.11
Tomoda, A.12
Miike, T.13
Naito, H.14
Ikuta, F.15
Tsuji, S.16
-
11
-
-
0024496744
-
Muscle pathology in Marinesco-Sjögren syndrome
-
Komiyama A, Nonaka I, Hirayama K (1989): Muscle pathology in Marinesco-Sjögren syndrome. J Neurol Sci 89:103-113.
-
(1989)
J Neurol Sci
, vol.89
, pp. 103-113
-
-
Komiyama, A.1
Nonaka, I.2
Hirayama, K.3
-
12
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
-
La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH (1991): Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352:77-79.
-
(1991)
Nature
, vol.352
, pp. 77-79
-
-
La Spada, A.R.1
Wilson, E.M.2
Lubahn, D.B.3
Harding, A.E.4
Fischbeck, K.H.5
-
13
-
-
0019490373
-
The Wagner-Stickler syndrome: A study of 22 families
-
Liberfarb RM, Hirose T, Holmes LB (1981): The Wagner-Stickler syndrome: A study of 22 families. J Paediatr 99:394-399.
-
(1981)
J Paediatr
, vol.99
, pp. 394-399
-
-
Liberfarb, R.M.1
Hirose, T.2
Holmes, L.B.3
-
15
-
-
0028240475
-
Triplet repeats strike again
-
Miwa S (1994): Triplet repeats strike again. Nature Genet 6:3-4.
-
(1994)
Nature Genet
, vol.6
, pp. 3-4
-
-
Miwa, S.1
-
16
-
-
0028335386
-
Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p
-
Nagafuchi S, Yanagisawa H, Sato K, Shirayama T, Ohsaki E, Bundo M, Takeda T, Tadokoro K, Kondo I, Murayama N, Tanaka Y, Kikushima H, Umino K, Kurosawa H, Furukawa T, Nihei K, Inoue T, Sano A, Komure O, Takahashi M, Yoshizawa T, Kanazawa I, Yamada M (1994): Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet 6:14-18.
-
(1994)
Nature Genet
, vol.6
, pp. 14-18
-
-
Nagafuchi, S.1
Yanagisawa, H.2
Sato, K.3
Shirayama, T.4
Ohsaki, E.5
Bundo, M.6
Takeda, T.7
Tadokoro, K.8
Kondo, I.9
Murayama, N.10
Tanaka, Y.11
Kikushima, H.12
Umino, K.13
Kurosawa, H.14
Furukawa, T.15
Nihei, K.16
Inoue, T.17
Sano, A.18
Komure, O.19
Takahashi, M.20
Yoshizawa, T.21
Kanazawa, I.22
Yamada, M.23
more..
-
17
-
-
0018906764
-
Classification of spinal muscular atrophies
-
Pearn J (1980): Classification of spinal muscular atrophies. Lancet 1:919-921.
-
(1980)
Lancet
, vol.1
, pp. 919-921
-
-
Pearn, J.1
-
18
-
-
0026327508
-
Clinical variability of autosomal dominant spinal muscular atrophy
-
Rietschel M, Rudnik-Schöneborn S, Zerres K (1992): Clinical variability of autosomal dominant spinal muscular atrophy. J Neurol Sci 107:65-73.
-
(1992)
J Neurol Sci
, vol.107
, pp. 65-73
-
-
Rietschel, M.1
Rudnik-Schöneborn, S.2
Zerres, K.3
-
19
-
-
84970050019
-
Human genes containing polymorphic trinucleotide repeats
-
Riggins GJ, Lokey LK, Chastain JL, Leiner HA, Sherman SL, Wilkinson KD, Warren ST (1992): Human genes containing polymorphic trinucleotide repeats. Nature Genet 2:186-191.
-
(1992)
Nature Genet
, vol.2
, pp. 186-191
-
-
Riggins, G.J.1
Lokey, L.K.2
Chastain, J.L.3
Leiner, H.A.4
Sherman, S.L.5
Wilkinson, K.D.6
Warren, S.T.7
-
20
-
-
0001713439
-
Hereditary progressive arthro-ophthalmopathy
-
Stickler GB, Belau PG, Farrell FJ, Jones JD, Pugh DG, Steinberg AG, Ward LE (1965): Hereditary progressive arthro-ophthalmopathy. Mayo Clin Proc 40:433-455.
-
(1965)
Mayo Clin Proc
, vol.40
, pp. 433-455
-
-
Stickler, G.B.1
Belau, P.G.2
Farrell, F.J.3
Jones, J.D.4
Pugh, D.G.5
Steinberg, A.G.6
Ward, L.E.7
-
22
-
-
0024499055
-
Stickler's syndrome
-
Temple IK (1989): Stickler's syndrome. J Med Genet 26:119-126.
-
(1989)
J Med Genet
, vol.26
, pp. 119-126
-
-
Temple, I.K.1
-
23
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
The Huntington's Disease Collaborative Research Group (1993): A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72:971-983.
-
(1993)
Cell
, vol.72
, pp. 971-983
-
-
|