-
1
-
-
0001596952
-
Non-progressive juvenile spinal muscular atrophy of the distal upper limb (Hirayama's disease)
-
De Jong J.M.B.V. (Ed), Elsevier Science, Amsterdam
-
Hirayama K. Non-progressive juvenile spinal muscular atrophy of the distal upper limb (Hirayama's disease). In: De Jong J.M.B.V. (Ed). Hand book of Clinical Neurology vol. 15 (1991), Elsevier Science, Amsterdam 107-120
-
(1991)
Hand book of Clinical Neurology
, vol.15
, pp. 107-120
-
-
Hirayama, K.1
-
2
-
-
0017962629
-
Juvenile type of distal and segmental muscular atrophy of upper extremities
-
Sobue I., Saito N., Lida M., and Ando K. Juvenile type of distal and segmental muscular atrophy of upper extremities. Ann Neurol 3 (1978) 429-432
-
(1978)
Ann Neurol
, vol.3
, pp. 429-432
-
-
Sobue, I.1
Saito, N.2
Lida, M.3
Ando, K.4
-
4
-
-
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 (2003) 215-220
-
(2003)
Acta Neurol Scand
, vol.107
, pp. 215-220
-
-
Gourie- Devi, M.1
Nalini, A.2
-
5
-
-
0034705024
-
Cervical dural sac and spinal cord in Juvenile muscular atrophy of distal upper extremity
-
Hirayama K., and Tokumar Y. Cervical dural sac and spinal cord in Juvenile muscular atrophy of distal upper extremity. Neurology 54 (2000) 1922-1926
-
(2000)
Neurology
, vol.54
, pp. 1922-1926
-
-
Hirayama, K.1
Tokumar, Y.2
-
6
-
-
0034979329
-
Juvenile muscular atrophy of the distal upper limb (Hirayama disease) associated with atopy
-
Kira J., and Ochi H. Juvenile muscular atrophy of the distal upper limb (Hirayama disease) associated with atopy. J Neurol Neurosurg Psychiatry 70 (2001) 798-801
-
(2001)
J Neurol Neurosurg Psychiatry
, vol.70
, pp. 798-801
-
-
Kira, J.1
Ochi, H.2
-
7
-
-
12144249791
-
A clinical, MRI and SMN gene deletion study in Hirayama disease
-
Misra U.K., Kalita J., Misra V.N., Kaseri A., and Mittal B.R. A clinical, MRI and SMN gene deletion study in Hirayama disease. Arch Neurol 62 (2005) 120-123
-
(2005)
Arch Neurol
, vol.62
, pp. 120-123
-
-
Misra, U.K.1
Kalita, J.2
Misra, V.N.3
Kaseri, A.4
Mittal, B.R.5
-
8
-
-
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 (1990) 236-239
-
(1990)
Neurology
, vol.40
, pp. 236-239
-
-
Tandan, R.1
Sharma, K.R.2
Bradley, W.G.3
Bevan, H.4
Jacobsen, P.5
-
9
-
-
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, et al. 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 (1997) 557-581
-
(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
Yang6
-
10
-
-
12144272476
-
Spinal muscular atrophies
-
Rimoin D.L., Connor J.M., Pyeritz R.E., and Korf B. (Eds), Churchill Livingstone, London
-
Zerres K., and Rudnik-Schoneborn S. Spinal muscular atrophies. In: Rimoin D.L., Connor J.M., Pyeritz R.E., and Korf B. (Eds). Emery and Rimoin's Principle and practice of Medical Genetics (4th Edition) vol. 3 (2002), Churchill Livingstone, London 3349-3372
-
(2002)
Emery and Rimoin's Principle and practice of Medical Genetics (4th Edition)
, vol.3
, pp. 3349-3372
-
-
Zerres, K.1
Rudnik-Schoneborn, S.2
-
11
-
-
0025800526
-
Androgen receptor gene mutations in X-linked spinal 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 and bulbar muscular atrophy. Nature 352 (1991) 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
-
-
0004136246
-
-
Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
-
Sambrook J., Fritsch E.F., and Maniatis T. Molecular Cloning: A Laboratory Manual. 2nd ed. (1989), Cold Spring Harbor Laboratory, Cold Spring Harbor, NY
-
(1989)
Molecular Cloning: A Laboratory Manual. 2nd ed.
-
-
Sambrook, J.1
Fritsch, E.F.2
Maniatis, T.3
-
14
-
-
0033845029
-
CAG trinucleotide repeats in the androgen receptor gene of infertile men exhibit stable inheritance in female offspring conceived after ICSI
-
Cram D.S., Song B., McLachlan R.I., and Trounson A.O. CAG trinucleotide repeats in the androgen receptor gene of infertile men exhibit stable inheritance in female offspring conceived after ICSI. Mol Hum Reprod 6 (2000) 861-866
-
(2000)
Mol Hum Reprod
, vol.6
, pp. 861-866
-
-
Cram, D.S.1
Song, B.2
McLachlan, R.I.3
Trounson, A.O.4
-
15
-
-
0033030011
-
Y-chromosome and mitochondrial DNA polymorphisms in Indian populations
-
Thangaraj K., Ramana G.V., and Singh L. Y-chromosome and mitochondrial DNA polymorphisms in Indian populations. Electrophoresis 20 (1999) 1743-1747
-
(1999)
Electrophoresis
, vol.20
, pp. 1743-1747
-
-
Thangaraj, K.1
Ramana, G.V.2
Singh, L.3
-
16
-
-
0037144377
-
Kennedy syndrome-bulbo-spinal muscular atrophy
-
Szabo A., and Mechler F. Kennedy syndrome-bulbo-spinal muscular atrophy. Ideggyogy Sz 55 (2002) 323-329
-
(2002)
Ideggyogy Sz
, vol.55
, pp. 323-329
-
-
Szabo, A.1
Mechler, F.2
-
17
-
-
5144225349
-
Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNASer(UCN)gene
-
Fetoni V., Briem E., Carrara F., Mora M., and Zeviani M. Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNASer(UCN)gene. Neuromuscul Disord 14 (2004) 723-726
-
(2004)
Neuromuscul Disord
, vol.14
, pp. 723-726
-
-
Fetoni, V.1
Briem, E.2
Carrara, F.3
Mora, M.4
Zeviani, M.5
-
18
-
-
0032976423
-
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene
-
Sue C.M., Tanji K., Hadjigeorgiou G., Andreu A.L., Nishino I., Krishna S., et al. Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene. Neurology 52 (1999) 1905-1908
-
(1999)
Neurology
, vol.52
, pp. 1905-1908
-
-
Sue, C.M.1
Tanji, K.2
Hadjigeorgiou, G.3
Andreu, A.L.4
Nishino, I.5
Krishna, S.6
-
19
-
-
0032958455
-
Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene
-
Verhoeven K., Ensink R.J., Tiranti V., Huygen P.L., Johnson D.F., Schatteman I., et al. Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene. Eur J Hum Genet 7 (1999) 45-51
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 45-51
-
-
Verhoeven, K.1
Ensink, R.J.2
Tiranti, V.3
Huygen, P.L.4
Johnson, D.F.5
Schatteman, I.6
-
20
-
-
2442614848
-
Familial monomelic amyotrophy: a case report from India
-
Nalini A., Lokesh L., and Rotnavalli E. Familial monomelic amyotrophy: a case report from India. J Neurol Sci 220 (2004) 95-98
-
(2004)
J Neurol Sci
, vol.220
, pp. 95-98
-
-
Nalini, A.1
Lokesh, L.2
Rotnavalli, E.3
-
21
-
-
0031038590
-
Familial juvenile focal amyotrophy of the upper extremity (Hirayama disease). Superoxide dismutase I genotype and activity
-
Robbercht W., Aguirre T., Van den Bosch L., Theys P., Nees H., Cassiman J.J., et al. Familial juvenile focal amyotrophy of the upper extremity (Hirayama disease). Superoxide dismutase I genotype and activity. Arch Neurol 54 (1997) 46-50
-
(1997)
Arch Neurol
, vol.54
, pp. 46-50
-
-
Robbercht, W.1
Aguirre, T.2
Van den Bosch, L.3
Theys, P.4
Nees, H.5
Cassiman, J.J.6
-
22
-
-
1442328925
-
MNGIE neuropathy: five cases mimicking chronic inflammatory demyelinating polyneuropathy
-
Bedlack R.S., Vu T., Hammans S., Sparr S.A., Myers B., Morgenlander J., et al. MNGIE neuropathy: five cases mimicking chronic inflammatory demyelinating polyneuropathy. Muscle Nerve 29 (2004) 364-368
-
(2004)
Muscle Nerve
, vol.29
, pp. 364-368
-
-
Bedlack, R.S.1
Vu, T.2
Hammans, S.3
Sparr, S.A.4
Myers, B.5
Morgenlander, J.6
-
23
-
-
0032705160
-
MRI findings in Hirayama disease: flexion-induced cervical myelopathy or intrinsic motor neuron disease?
-
Schroder R., Keller E., Flake S., Schmidt S., Pohl C., Klockgether T., et al. MRI findings in Hirayama disease: flexion-induced cervical myelopathy or intrinsic motor neuron disease?. J Neurol 246 (1999) 1069-1074
-
(1999)
J Neurol
, vol.246
, pp. 1069-1074
-
-
Schroder, R.1
Keller, E.2
Flake, S.3
Schmidt, S.4
Pohl, C.5
Klockgether, T.6
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