-
2
-
-
24944562052
-
Evidence of a common founder for SCA12 in the Indian population
-
Bahl S., Virdi K., Mittal U., Sachdeva M.P., Kalla A.K., Holmes S.E., O'Hearn E., Margolis R.L., Jain S., Srivastava A.K., Mukerji M. Evidence of a common founder for SCA12 in the Indian population. Ann. Hum. Genet. 2005, 69:528-534.
-
(2005)
Ann. Hum. Genet.
, vol.69
, pp. 528-534
-
-
Bahl, S.1
Virdi, K.2
Mittal, U.3
Sachdeva, M.P.4
Kalla, A.K.5
Holmes, S.E.6
O'Hearn, E.7
Margolis, R.L.8
Jain, S.9
Srivastava, A.K.10
Mukerji, M.11
-
3
-
-
0025373604
-
Serum lipids, lipoprotein analysis and apoprotein A-I, A-II and B levels in Friedreich's ataxia
-
Baldo-Enzi G., Bernardo M., Vitale E., Baiocchi M.R., Trevisan C., Micaglio G.F., Angelini C., Fellin R., Crepaldi G. Serum lipids, lipoprotein analysis and apoprotein A-I, A-II and B levels in Friedreich's ataxia. Eur. Neurol. 1990, 30:5667-5672.
-
(1990)
Eur. Neurol.
, vol.30
, pp. 5667-5672
-
-
Baldo-Enzi, G.1
Bernardo, M.2
Vitale, E.3
Baiocchi, M.R.4
Trevisan, C.5
Micaglio, G.F.6
Angelini, C.7
Fellin, R.8
Crepaldi, G.9
-
4
-
-
84873994783
-
-
Hereditary ataxia overview. (modified July 2011).
-
Bird, T.D., 2011. Hereditary ataxia overview. (modified July 2011). http://www.ncbi.nlm.nih.gov/books/NBK1138/.
-
(2011)
-
-
Bird, T.D.1
-
5
-
-
60249095382
-
The spinocerebellar ataxia 12 gene product and protein phosphatase 2A regulatory subunit Bbeta2 antagonizes neuronal survival by promoting mitochondrial fission
-
Dagda R.K., Merrill R.A., Cribbs J.T., Chen Y., Hell J.W., Usachev Y.M., Strack S. The spinocerebellar ataxia 12 gene product and protein phosphatase 2A regulatory subunit Bbeta2 antagonizes neuronal survival by promoting mitochondrial fission. J. Biol. Chem. 2008, 283:36241-36248.
-
(2008)
J. Biol. Chem.
, vol.283
, pp. 36241-36248
-
-
Dagda, R.K.1
Merrill, R.A.2
Cribbs, J.T.3
Chen, Y.4
Hell, J.W.5
Usachev, Y.M.6
Strack, S.7
-
6
-
-
33745088678
-
Molecular pathogenesis of spinocerebellar ataxias
-
Dueñas A.M., Goold R., Giunti P. Molecular pathogenesis of spinocerebellar ataxias. Brain 2006, 129:1357-1370.
-
(2006)
Brain
, vol.129
, pp. 1357-1370
-
-
Dueñas, A.M.1
Goold, R.2
Giunti, P.3
-
7
-
-
77955636420
-
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond
-
Durr A. Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond. Lancet Neurol. 2010, 9:885-894.
-
(2010)
Lancet Neurol.
, vol.9
, pp. 885-894
-
-
Durr, A.1
-
8
-
-
67649660246
-
SCA-LSVD: a repeat-oriented locus-specific variation database for genotype to phenotype correlations in spinocerebellar ataxias
-
Faruq M., Scaria V., Singh I., Tyagi S., Srivastava A.K., Mukerji M. SCA-LSVD: a repeat-oriented locus-specific variation database for genotype to phenotype correlations in spinocerebellar ataxias. Hum. Mutat. 2009, 30:1037-1042.
-
(2009)
Hum. Mutat.
, vol.30
, pp. 1037-1042
-
-
Faruq, M.1
Scaria, V.2
Singh, I.3
Tyagi, S.4
Srivastava, A.K.5
Mukerji, M.6
-
9
-
-
0027337563
-
Protein phosphatase 2A1 is the major enzyme in vertebrate cell extracts that dephosphorylates several physiological substrates for cyclin-dependent protein kinases
-
Ferrigno P., Langan T.A., Cohen P. Protein phosphatase 2A1 is the major enzyme in vertebrate cell extracts that dephosphorylates several physiological substrates for cyclin-dependent protein kinases. Mol. Biol. Cell 1993, 4:669-677.
-
(1993)
Mol. Biol. Cell
, vol.4
, pp. 669-677
-
-
Ferrigno, P.1
Langan, T.A.2
Cohen, P.3
-
10
-
-
70349784345
-
Chapter 17. Transthyretin: an enhancer of nerve regeneration
-
Fleming C.E., Mar F.M., Franquinho F., Sousa M.M. Chapter 17. Transthyretin: an enhancer of nerve regeneration. Int. Rev. Neurobiol. 2009, 87:337-346.
-
(2009)
Int. Rev. Neurobiol.
, vol.87
, pp. 337-346
-
-
Fleming, C.E.1
Mar, F.M.2
Franquinho, F.3
Sousa, M.M.4
-
11
-
-
3142676333
-
Proteomics for protein expression profiling in neuroscience
-
Freeman W.M., Hemby S.E. Proteomics for protein expression profiling in neuroscience. Neurochem. Res. 2004, 29:1065-1081.
-
(2004)
Neurochem. Res.
, vol.29
, pp. 1065-1081
-
-
Freeman, W.M.1
Hemby, S.E.2
-
12
-
-
0035115573
-
SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family
-
Fujigasaki H., Verma I.C., Camuzat A., Margolis R.L., Zander C., Lebre A.S., Jamot L., Saxena R., Anand I., Holmes S.E., Ross C.A., Dürr A., Brice A. SCA12 is a rare locus for autosomal dominant cerebellar ataxia: a study of an Indian family. Ann. Neurol. 2001, 49:117-121.
-
(2001)
Ann. Neurol.
, vol.49
, pp. 117-121
-
-
Fujigasaki, H.1
Verma, I.C.2
Camuzat, A.3
Margolis, R.L.4
Zander, C.5
Lebre, A.S.6
Jamot, L.7
Saxena, R.8
Anand, I.9
Holmes, S.E.10
Ross, C.A.11
Dürr, A.12
Brice, A.13
-
13
-
-
33646687754
-
Influence of human haptoglobin polymorphism on oxidative stress induced by free hemoglobin on red blood cells
-
Guéye P.M., Glasser N., Férard G., Lessinger J.M. Influence of human haptoglobin polymorphism on oxidative stress induced by free hemoglobin on red blood cells. Clin. Chem. Lab. Med. 2006, 44:542-547.
-
(2006)
Clin. Chem. Lab. Med.
, vol.44
, pp. 542-547
-
-
Guéye, P.M.1
Glasser, N.2
Férard, G.3
Lessinger, J.M.4
-
14
-
-
0032727249
-
Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12
-
Holmes S.E., O'Hearn E.E., McInnis M.G., Gorelick-Feldman D.A., Kleiderlein J.J., Callahan C., Kwak N.G., Ingersoll-Ashworth R.G., Sherr M., Sumner A.J., Sharp A.H., Ananth U., Seltzer W.K., Boss M.A., Vieria-Saecker A.M., Epplen J.T., Riess O., Ross C.A., Margolis R.L. Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12. Nat. Genet. 1999, 23:391-392.
-
(1999)
Nat. Genet.
, vol.23
, pp. 391-392
-
-
Holmes, S.E.1
O'Hearn, E.E.2
McInnis, M.G.3
Gorelick-Feldman, D.A.4
Kleiderlein, J.J.5
Callahan, C.6
Kwak, N.G.7
Ingersoll-Ashworth, R.G.8
Sherr, M.9
Sumner, A.J.10
Sharp, A.H.11
Ananth, U.12
Seltzer, W.K.13
Boss, M.A.14
Vieria-Saecker, A.M.15
Epplen, J.T.16
Riess, O.17
Ross, C.A.18
Margolis, R.L.19
-
15
-
-
0035503214
-
SCA12: an unusual mutation leads to an unusual spinocerebellar ataxia
-
Holmes S.E., Hearn E.O., Ross C.A., Margolis R.L. SCA12: an unusual mutation leads to an unusual spinocerebellar ataxia. Brain Res. Bull. 2001, 56:397-403.
-
(2001)
Brain Res. Bull.
, vol.56
, pp. 397-403
-
-
Holmes, S.E.1
Hearn, E.O.2
Ross, C.A.3
Margolis, R.L.4
-
17
-
-
0028908898
-
The type II hemopexin interleukin-6 response element predominates the transcriptional regulation of the hemopexin acute phase responsiveness
-
Immenschuh S., Song D.X., Satoh H., Muller-Eberhard U. The type II hemopexin interleukin-6 response element predominates the transcriptional regulation of the hemopexin acute phase responsiveness. Biochem. Biophys. Res. Commun. 1995, 207:202-208.
-
(1995)
Biochem. Biophys. Res. Commun.
, vol.207
, pp. 202-208
-
-
Immenschuh, S.1
Song, D.X.2
Satoh, H.3
Muller-Eberhard, U.4
-
18
-
-
70349904712
-
The mechanism of opiorphin-induced experimental priapism in rats involves activation of the polyamine synthetic pathway
-
Kanika N.D., Tar M., Tong Y., Kuppam D.S., Melman A., Davies K.P. The mechanism of opiorphin-induced experimental priapism in rats involves activation of the polyamine synthetic pathway. Am. J. Physiol. Cell Physiol. 2009, 297:C916-C927.
-
(2009)
Am. J. Physiol. Cell Physiol.
, vol.297
-
-
Kanika, N.D.1
Tar, M.2
Tong, Y.3
Kuppam, D.S.4
Melman, A.5
Davies, K.P.6
-
19
-
-
16544375948
-
New advances in measurement of complement activation: lessons of systemic lupus erythematosus
-
Liu C.C., Manzi S., Danchenko N., Ahearn J.M. New advances in measurement of complement activation: lessons of systemic lupus erythematosus. Curr. Rheumatol. Rep. 2004, 6:375-381.
-
(2004)
Curr. Rheumatol. Rep.
, vol.6
, pp. 375-381
-
-
Liu, C.C.1
Manzi, S.2
Danchenko, N.3
Ahearn, J.M.4
-
20
-
-
0035852808
-
SCA12: tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion
-
O'Hearn E. SCA12: tremor with cerebellar and cortical atrophy is associated with a CAG repeat expansion. Neurology 2001, 56:299-303.
-
(2001)
Neurology
, vol.56
, pp. 299-303
-
-
O'Hearn, E.1
-
21
-
-
4043177112
-
Haptoglobin phenotypes in health and disorders
-
Sadrzadeh S.M., Bozorgmehr J. Haptoglobin phenotypes in health and disorders. Am. J. Clin. Pathol. 2004, 121(Suppl.):S97-S104.
-
(2004)
Am. J. Clin. Pathol.
, vol.121
, Issue.SUPPL.
-
-
Sadrzadeh, S.M.1
Bozorgmehr, J.2
-
22
-
-
0035843921
-
Haptoglobin gene expression in human glioblastoma cell lines
-
Sanchez D.J., Armstrong L., Aguilar R., Adrian G.S., Haro L., Martinez A.O. Haptoglobin gene expression in human glioblastoma cell lines. Neurosci. Lett. 2001, 303:181-184.
-
(2001)
Neurosci. Lett.
, vol.303
, pp. 181-184
-
-
Sanchez, D.J.1
Armstrong, L.2
Aguilar, R.3
Adrian, G.S.4
Haro, L.5
Martinez, A.O.6
-
23
-
-
84860347419
-
Spinocerebellar ataxia-12 (SCA12): a tremor dominant disease, typically seen in India
-
Sinha K.K. Spinocerebellar ataxia-12 (SCA12): a tremor dominant disease, typically seen in India. Med. Update 2005, 5:600-602.
-
(2005)
Med. Update
, vol.5
, pp. 600-602
-
-
Sinha, K.K.1
-
24
-
-
79960222983
-
Spinocerebellar ataxia type 12 is not an uncommon form of ADCA in India
-
Sinha K.K., Ranjan S., Jha D.K. Spinocerebellar ataxia type 12 is not an uncommon form of ADCA in India. Ann. Ind. Acad. Neurol. 2003, 6:193.
-
(2003)
Ann. Ind. Acad. Neurol.
, vol.6
, pp. 193
-
-
Sinha, K.K.1
Ranjan, S.2
Jha, D.K.3
-
25
-
-
1542616519
-
Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India
-
Sinha K.K., Worth P.F., Jha D.K., Sinha S., Stinton V.J., Davis M.B., Wood N.W., Sweeney M.G., Bhatia K.P. Autosomal dominant cerebellar ataxia: SCA2 is the most frequent mutation in eastern India. J. Neurol. Neurosurg. Psychiatry 2004, 75:448-452.
-
(2004)
J. Neurol. Neurosurg. Psychiatry
, vol.75
, pp. 448-452
-
-
Sinha, K.K.1
Worth, P.F.2
Jha, D.K.3
Sinha, S.4
Stinton, V.J.5
Davis, M.B.6
Wood, N.W.7
Sweeney, M.G.8
Bhatia, K.P.9
-
26
-
-
0035198979
-
Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12
-
Srivastava A.K., Choudhry S., Gopinath M.S., Roy S., Tripathi M., Brahmachari S.K., Jain S. Molecular and clinical correlation in five Indian families with spinocerebellar ataxia 12. Ann. Neurol. 2001, 50:796-800.
-
(2001)
Ann. Neurol.
, vol.50
, pp. 796-800
-
-
Srivastava, A.K.1
Choudhry, S.2
Gopinath, M.S.3
Roy, S.4
Tripathi, M.5
Brahmachari, S.K.6
Jain, S.7
-
27
-
-
1542300940
-
Inter-rater reliability of the International Cooperative Ataxia Rating Scale (ICARS)
-
Storey E., Tuck K., Hester R., Hughes A., Churchyard A. Inter-rater reliability of the International Cooperative Ataxia Rating Scale (ICARS). Mov. Disord. 2004, 19:190-192.
-
(2004)
Mov. Disord.
, vol.19
, pp. 190-192
-
-
Storey, E.1
Tuck, K.2
Hester, R.3
Hughes, A.4
Churchyard, A.5
-
28
-
-
79958190182
-
Quantification of circulating plasma DNA in Friedreich's ataxia and spinocerebellar ataxia types 2 and 12
-
Swarup V., Srivastava A.K., Padma M.V., Rajeswari M.R. Quantification of circulating plasma DNA in Friedreich's ataxia and spinocerebellar ataxia types 2 and 12. DNA Cell Biol. 2011, 30:389-394.
-
(2011)
DNA Cell Biol.
, vol.30
, pp. 389-394
-
-
Swarup, V.1
Srivastava, A.K.2
Padma, M.V.3
Rajeswari, M.R.4
-
29
-
-
0037225766
-
Inflammation markers in relation to cognition in a healthy aging population
-
Teunissen C.E., van Boxtel M.P., Bosma H., Bosmans E., Delanghe J., De Bruijn C., Wauters A., Maes M., Jolles J., Steinbusch H.W., de Vente J. Inflammation markers in relation to cognition in a healthy aging population. J. Neuroimmunol. 2003, 134:142-150.
-
(2003)
J. Neuroimmunol.
, vol.134
, pp. 142-150
-
-
Teunissen, C.E.1
van Boxtel, M.P.2
Bosma, H.3
Bosmans, E.4
Delanghe, J.5
De Bruijn, C.6
Wauters, A.7
Maes, M.8
Jolles, J.9
Steinbusch, H.W.10
de Vente, J.11
-
30
-
-
0030939011
-
International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. the Ataxia Neuropharmacology Committee of the World Federation of Neurology
-
Trouillas P., Takayanagi T., Hallett M., Currier R.D., Subramony S.H., Wessel K., Bryer A., Diener H.C., Massaquoi S., Gomez C.M., Coutinho P., Ben Hamida M., Campanella G., Filla A., Schut L., Timann D., Honnorat J., Nighoghossian N., Manyam B. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. the Ataxia Neuropharmacology Committee of the World Federation of Neurology. J. Neurol. Sci. 1997, 145:205-211.
-
(1997)
J. Neurol. Sci.
, vol.145
, pp. 205-211
-
-
Trouillas, P.1
Takayanagi, T.2
Hallett, M.3
Currier, R.D.4
Subramony, S.H.5
Wessel, K.6
Bryer, A.7
Diener, H.C.8
Massaquoi, S.9
Gomez, C.M.10
Coutinho, P.11
Ben Hamida, M.12
Campanella, G.13
Filla, A.14
Schut, L.15
Timann, D.16
Honnorat, J.17
Nighoghossian, N.18
Manyam, B.19
-
31
-
-
79958723738
-
Mitochondrial dysfunction and oxidative stress contribute to the pathogenesis of spinocerebellar ataxia type 12 (SCA12)
-
Wang Y.C., Lee C.M., Lee L.C., Tung L.C., Hsieh-Li H.M., Lee-Chen G.J., Su M.T. Mitochondrial dysfunction and oxidative stress contribute to the pathogenesis of spinocerebellar ataxia type 12 (SCA12). J. Biol. Chem. 2011, 286:21742-21754.
-
(2011)
J. Biol. Chem.
, vol.286
, pp. 21742-21754
-
-
Wang, Y.C.1
Lee, C.M.2
Lee, L.C.3
Tung, L.C.4
Hsieh-Li, H.M.5
Lee-Chen, G.J.6
Su, M.T.7
|