-
1
-
-
0017148259
-
A General method for isolation of high molecular weight DNA from eukaryotes
-
Blin, N. and Stafford, D.W.: A General method for isolation of high molecular weight DNA from eukaryotes. Nuc Acid Res, 3: 2303-2308, 1976.
-
(1976)
Nuc. Acid Res.
, vol.3
, pp. 2303-2308
-
-
Blin, N.1
Stafford, D.W.2
-
3
-
-
0031419876
-
Molecular analysis of survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes of spinal muscular atrophy patients and their parents
-
Chang, J.G., Jong, Y.J., Lin, S.P., Soong, B.W., Tsai, C.H., Yang, T.Y., Chang, C.P. and Wand, W.S.: Molecular analysis of survival motor neuron (SMN) and neuronal apoptosis inhibitory protein (NAIP) genes of spinal muscular atrophy patients and their parents. Hum Genet, 100: 557-581, 1997.
-
(1997)
Hum. Genet.
, vol.100
, pp. 557-581
-
-
Chang, J.G.1
Jong, Y.J.2
Lin, S.P.3
Soong, B.W.4
Tsai, C.H.5
Yang, T.Y.6
Chang, C.P.7
Wand, W.S.8
-
4
-
-
0036154959
-
Quantitative analyses of SMN1 and SMN2 based on real-time light Cycler PCR: Fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy
-
Feldkotter, M., Schwarzer, V., Wirth, R., Wienker, T.F. and Wirth, B.: Quantitative analyses of SMN1 and SMN2 based on real-time light Cycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy. Am J Hum Genet, 70: 358-368, 2002.
-
(2002)
Am. J. Hum. Genet.
, vol.70
, pp. 358-368
-
-
Feldkotter, M.1
Schwarzer, V.2
Wirth, R.3
Wienker, T.F.4
Wirth, B.5
-
5
-
-
0018872668
-
Neurophysiological study of Subacute combined degeneration
-
Fine, E.J. and Hallett, M.: Neurophysiological study of Subacute combined degeneration. J Neurol Sci, 45: 331-336, 1980.
-
(1980)
J. Neurol. Sci.
, vol.45
, pp. 331-336
-
-
Fine, E.J.1
Hallett, M.2
-
6
-
-
0037354162
-
Long term follow up of 44 patients with brachial monomelic amyotrophy
-
Gourie-Devi, M. and Nalini, A.: Long term follow up of 44 patients with brachial monomelic amyotrophy. Acta Neurol Scand, 107: 215-220, 2003.
-
(2003)
Acta Neurol. Scand.
, vol.107
, pp. 215-220
-
-
Gourie-Devi, M.1
Nalini, A.2
-
7
-
-
0022530530
-
Electromyographic findings in different froms of infantile or juvenile proximal spinal muscular atrophy
-
Hausmanowa-Petrusewicz, I. and Karwansaka, A.: Electromyographic findings in different froms of infantile or juvenile proximal spinal muscular atrophy. Muscle Nerve, 9: 37-46, 1986.
-
(1986)
Muscle Nerve
, vol.9
, pp. 37-46
-
-
Hausmanowa-Petrusewicz, I.1
Karwansaka, A.2
-
8
-
-
0015471375
-
Juvenile non progressive muscular atrophy localised in hand and forearm observation in 38 cases
-
Hirayama, K.: Juvenile non progressive muscular atrophy localised in hand and forearm observation in 38 cases. Clin Neurol, 12: 313-324, 1972.
-
(1972)
Clin. Neurol.
, vol.12
, pp. 313-324
-
-
Hirayama, K.1
-
9
-
-
0001596952
-
Non-progressive juvenile spinal muscular atrophy of the distal upper limb (Hirayama's disease)
-
J.M.B.V De Jong (Ed). Elsevier Science, Amsterdam
-
Hirayama, K.: Non-progressive juvenile spinal muscular atrophy of the distal upper limb (Hirayama's disease). In: J.M.B.V De Jong (Ed). Hand book of Clinical Neurology, Vol. 15. Elsevier Science, Amsterdam, 107-120, 1991.
-
(1991)
Hand Book of Clinical Neurology
, vol.15
, pp. 107-120
-
-
Hirayama, K.1
-
10
-
-
0014310582
-
Progressive proximal spinal and bulbar muscular atrophy of late onset. A Sex-Linked recessive trait
-
Kennedy, W.R., Alter, M. and Sung J.H.: Progressive proximal spinal and bulbar muscular atrophy of late onset. A Sex-Linked recessive trait. Neurology, 18: 671-680, 1968.
-
(1968)
Neurology
, vol.18
, pp. 671-680
-
-
Kennedy, W.R.1
Alter, M.2
Sung, J.H.3
-
11
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal muscular and bulbar muscular atrophy
-
La Spada, A.R., Wilson, E.M., Lubahn, D.B., Harding, A.E. and Fischbeck, K.H.: Androgen receptor gene mutations in X-linked spinal muscular and bulbar muscular atrophy. Nature, 352: 77-79, 1991.
-
(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
-
12
-
-
0028797783
-
Identification and characterization of spinal muscular atrophy determining gene
-
Lefebvre, S., Burglen, L., Reboullet, S., Clermont, O., Burlet, P., Viollet, L., Benichou, B., Cruaud, C., Millasseau, T., Zeviani, M., Le Taslier, D., Frezal, J., Cohen, D., Baissenbach, J., Munnico, A. and Melki, J.: Identification and characterization of spinal muscular atrophy determining gene. Cell, 80: 155-165, 1995.
-
(1995)
Cell
, vol.80
, pp. 155-165
-
-
Lefebvre, S.1
Burglen, L.2
Reboullet, S.3
Clermont, O.4
Burlet, P.5
Viollet, L.6
Benichou, B.7
Cruaud, C.8
Millasseau, T.9
Zeviani, M.10
Le Taslier, D.11
Frezal, J.12
Cohen, D.13
Baissenbach, J.14
Munnico, A.15
Melki, J.16
-
15
-
-
4444366655
-
A clinical, MRI and gene deletion study in Hirayama disease
-
(in the press)
-
Misra, U.K., Kalita, J., Mishra, V.N., Kesari, A. and Mittal, B.: A clinical, MRI and gene deletion study in Hirayama disease. Arch Neurol, 2004 (in the press).
-
(2004)
Arch. Neurol.
-
-
Misra, U.K.1
Kalita, J.2
Mishra, V.N.3
Kesari, A.4
Mittal, B.5
-
16
-
-
2942671060
-
Inverse correlation between SMN1 and SMN2 copy numbers: Evidence for gene conversion from SMN2 to SMN1
-
Ogino, S., Gao, S., Leonard, D.G., Paessler, M. and Wilson, R.B.: Inverse correlation between SMN1 and SMN2 copy numbers: evidence for gene conversion from SMN2 to SMN1. Eur J Hum Genet., 11: 723, 2003.
-
(2003)
Eur. J. Hum. Genet.
, vol.11
, pp. 723
-
-
Ogino, S.1
Gao, S.2
Leonard, D.G.3
Paessler, M.4
Wilson, R.B.5
-
17
-
-
0036942226
-
Genetic testing and risk assessment for spinal muscular atrophy (SMA)
-
Ogino, S. and Wilson, R.B.: Genetic testing and risk assessment for spinal muscular atrophy (SMA). Hum Genet., 111: 477-500, 2002.
-
(2002)
Hum. Genet.
, vol.111
, pp. 477-500
-
-
Ogino, S.1
Wilson, R.B.2
-
18
-
-
0031038590
-
Familial Juvenile focal amyotrophy of the upper Extremity (Hirayama Disease). Suber oxide disamutase 1 genotype and activity
-
Robberecht, W., Aguirre T., Van den Bosch, L., Theys, P., Nees, H., Cassiman, J.J. and Matthijs, G.: Familial Juvenile focal amyotrophy of the upper Extremity (Hirayama Disease). Suber oxide disamutase 1 genotype and activity. Arch Neurol., 54: 46-50, 1997.
-
(1997)
Arch. Neurol.
, vol.54
, pp. 46-50
-
-
Robberecht, W.1
Aguirre, T.2
Van den Bosch, L.3
Theys, P.4
Nees, H.5
Cassiman, J.J.6
Matthijs, G.7
-
19
-
-
0030020799
-
Gene deletions in spinal muscular atrophy
-
Rodregeus, N.R., Owen, N., Talbot, K., Patel, S., Muntoni, F., Ignatius, J. et al.: Gene deletions in spinal muscular atrophy. J Med Genet, 33: 93-96, 1996.
-
(1996)
J. Med. Genet.
, vol.33
, pp. 93-96
-
-
Rodregeus, N.R.1
Owen, N.2
Talbot, K.3
Patel, S.4
Muntoni, F.5
Ignatius, J.6
-
20
-
-
0017962629
-
Juvenile type of distal and segmental muscular atrophy of upper extremities
-
Sobue, I., Saito, N., Iida, M. and Ando, K.: Juvenile type of distal and segmental muscular atrophy of upper extremities. Ann. Neurol, 3: 429-432, 1978.
-
(1978)
Ann. Neurol.
, vol.3
, pp. 429-432
-
-
Sobue, I.1
Saito, N.2
Iida, M.3
Ando, K.4
-
21
-
-
0025266829
-
Chronic segmental spinal muscular atrophy of upper extremities in identical twins
-
Tandan, R., Sharma, K.R., Bradley, W.G., Bevan, H. and Jacobsen, P.: Chronic segmental spinal muscular atrophy of upper extremities in identical twins. Neurology, 40: 236-239, 1990.
-
(1990)
Neurology
, vol.40
, pp. 236-239
-
-
Tandan, R.1
Sharma, K.R.2
Bradley, W.G.3
Bevan, H.4
Jacobsen, P.5
-
22
-
-
0028875030
-
Genetic basis of adult onset spinal muscular atrophy
-
Zerres, K., Rudnik-Schoneborn, S., Forkert, R. and Wirth, B.: Genetic basis of adult onset spinal muscular atrophy. Lancet, 346: 1162, 1995.
-
(1995)
Lancet
, vol.346
, pp. 1162
-
-
Zerres, K.1
Rudnik-Schoneborn, S.2
Forkert, R.3
Wirth, B.4
-
23
-
-
0028904953
-
Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestion for a modification of existing classifications
-
Zerres, K. and Rudnik-Schoneborn, S.: Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestion for a modification of existing classifications. Arch Neurol, 52: 518-523, 1995.
-
(1995)
Arch. Neurol.
, vol.52
, pp. 518-523
-
-
Zerres, K.1
Rudnik-Schoneborn, S.2
|