-
1
-
-
70349780383
-
Identification and functional dissection of localization signals within ataxin-3
-
Antony P.M., Mäntele S., Mollenkopf P., Boy J., Kehlenbach R.H., Riess O., and Schmidt T. Identification and functional dissection of localization signals within ataxin-3. Neurobiol. Dis. 36 (2009) 280-292
-
(2009)
Neurobiol. Dis.
, vol.36
, pp. 280-292
-
-
Antony, P.M.1
Mäntele, S.2
Mollenkopf, P.3
Boy, J.4
Kehlenbach, R.H.5
Riess, O.6
Schmidt, T.7
-
2
-
-
34447520352
-
Nuclear localization of ataxin-3 is required for the manifestation of symptoms in SCA3: in vivo evidence
-
Bichelmeier U., Schmidt T., Hübener J., Boy J., Rüttiger L., Häbig K., Poths S., Bonin M., Knipper M., Schmidt W.J., Wilbertz J., Wolburg H., Laccone F., and Riess O. Nuclear localization of ataxin-3 is required for the manifestation of symptoms in SCA3: in vivo evidence. J. Neurosci. 27 (2007) 7418-7428
-
(2007)
J. Neurosci.
, vol.27
, pp. 7418-7428
-
-
Bichelmeier, U.1
Schmidt, T.2
Hübener, J.3
Boy, J.4
Rüttiger, L.5
Häbig, K.6
Poths, S.7
Bonin, M.8
Knipper, M.9
Schmidt, W.J.10
Wilbertz, J.11
Wolburg, H.12
Laccone, F.13
Riess, O.14
-
3
-
-
27544477225
-
Contribution of nuclear and extranuclear polyQ to neurological phenotypes in mouse models of Huntington's disease
-
Benn C.L., Landles C., Li H., Strand A.D., Woodman B., Sathasivam K., Li S.H., Ghazi-Noori S., Hockly E., Farugue S.M., Cha J.H., Sharpe P.T., Olson J.M., Li X.J., and Bates G.P. Contribution of nuclear and extranuclear polyQ to neurological phenotypes in mouse models of Huntington's disease. Hum. Mol. Genet. 14 (2005) 3065-3078
-
(2005)
Hum. Mol. Genet.
, vol.14
, pp. 3065-3078
-
-
Benn, C.L.1
Landles, C.2
Li, H.3
Strand, A.D.4
Woodman, B.5
Sathasivam, K.6
Li, S.H.7
Ghazi-Noori, S.8
Hockly, E.9
Farugue, S.M.10
Cha, J.H.11
Sharpe, P.T.12
Olson, J.M.13
Li, X.J.14
Bates, G.P.15
-
4
-
-
67349100160
-
Nonallele-specific silencing of mutant and wild-type huntingtin demonstrates therapeutic efficacy in Huntington's disease mice
-
Boudreau R.L., McBride J.L., Martins I., Shen S., Xing Y., Carter B.J., and Davidson B.L. Nonallele-specific silencing of mutant and wild-type huntingtin demonstrates therapeutic efficacy in Huntington's disease mice. Mol. Ther. 17 (2009) 1053-1063
-
(2009)
Mol. Ther.
, vol.17
, pp. 1053-1063
-
-
Boudreau, R.L.1
McBride, J.L.2
Martins, I.3
Shen, S.4
Xing, Y.5
Carter, B.J.6
Davidson, B.L.7
-
5
-
-
0141926491
-
Mutant huntingtin promotes the fibrillogenesis of wild-type huntingtin: a potential mechanism for loss of huntingtin function in Huntington's disease
-
Busch A., Engemann S., Lurz R., Okazawa H., Lehrach H., and Wanker E.E. Mutant huntingtin promotes the fibrillogenesis of wild-type huntingtin: a potential mechanism for loss of huntingtin function in Huntington's disease. J. Biol. Chem. 278 (2003) 41452-41461
-
(2003)
J. Biol. Chem.
, vol.278
, pp. 41452-41461
-
-
Busch, A.1
Engemann, S.2
Lurz, R.3
Okazawa, H.4
Lehrach, H.5
Wanker, E.E.6
-
6
-
-
40749122969
-
Homozygosity enhances severity in spinocerebellar ataxia type 3
-
Carvalho D.R., La Rocque-Ferreira A., Rizzo I.M., Imamura E.U., and Speck-Martins C.E. Homozygosity enhances severity in spinocerebellar ataxia type 3. Pediatr. Neurol. 38 (2008) 296-299
-
(2008)
Pediatr. Neurol.
, vol.38
, pp. 296-299
-
-
Carvalho, D.R.1
La Rocque-Ferreira, A.2
Rizzo, I.M.3
Imamura, E.U.4
Speck-Martins, C.E.5
-
7
-
-
0037292586
-
Dysfunction of wild-type huntingtin in Huntington disease
-
Cattaneo E. Dysfunction of wild-type huntingtin in Huntington disease. News Physiol. Sci. 18 (2003) 34-37
-
(2003)
News Physiol. Sci.
, vol.18
, pp. 34-37
-
-
Cattaneo, E.1
-
8
-
-
0036566229
-
YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit
-
Cemal C.K., Carroll C.J., Lawrence L., Lowrie M.B., Ruddle P., Al-Mahdawi S., King R.H., Pook M.A., Huxley C., and Chamberlain S. YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit. Hum. Mol. Genet. 9 (2002) 1075-1094
-
(2002)
Hum. Mol. Genet.
, vol.9
, pp. 1075-1094
-
-
Cemal, C.K.1
Carroll, C.J.2
Lawrence, L.3
Lowrie, M.B.4
Ruddle, P.5
Al-Mahdawi, S.6
King, R.H.7
Pook, M.A.8
Huxley, C.9
Chamberlain, S.10
-
9
-
-
0345118103
-
Destabilization of a non-pathological variant of ataxin-3 results in fibrillogenesis via a partially folded intermediate: a model for misfolding in polyglutamine disease
-
Chow M.K., Paulson H.L., and Bottomley S.P. Destabilization of a non-pathological variant of ataxin-3 results in fibrillogenesis via a partially folded intermediate: a model for misfolding in polyglutamine disease. J. Mol. Biol. 335 (2004) 333-341
-
(2004)
J. Mol. Biol.
, vol.335
, pp. 333-341
-
-
Chow, M.K.1
Paulson, H.L.2
Bottomley, S.P.3
-
10
-
-
0033033260
-
Homozygosity in Huntington's disease
-
Dürr A., Hahn-Barma V., Brice A., Pecheux C., Dode C., and Feingold J. Homozygosity in Huntington's disease. J. Med. Genet. 36 (1999) 172-173
-
(1999)
J. Med. Genet.
, vol.36
, pp. 172-173
-
-
Dürr, A.1
Hahn-Barma, V.2
Brice, A.3
Pecheux, C.4
Dode, C.5
Feingold, J.6
-
11
-
-
0036388439
-
Homozygous Machado-Joseph disease presenting as REM sleep behavior disorder and prominent psychiatric symptoms
-
Fukutake T., Shinotoh H., Nishino H., Ichikawa Y., Goto J., Kanazawa I., and Hattori T. Homozygous Machado-Joseph disease presenting as REM sleep behavior disorder and prominent psychiatric symptoms. Eur. J. Neurol. 9 (2002) 97-100
-
(2002)
Eur. J. Neurol.
, vol.9
, pp. 97-100
-
-
Fukutake, T.1
Shinotoh, H.2
Nishino, H.3
Ichikawa, Y.4
Goto, J.5
Kanazawa, I.6
Hattori, T.7
-
12
-
-
32144436256
-
Proteolytic cleavage of polyglutamine-expanded ataxin-3 is critical for aggregation and sequestration of non-expanded ataxin-3
-
Haacke A., Broadley S.A., Boteva R., Tzvetkov N., Hartl F.U., and Breuer P. Proteolytic cleavage of polyglutamine-expanded ataxin-3 is critical for aggregation and sequestration of non-expanded ataxin-3. Hum. Mol. Genet. 15 (2006) 555-568
-
(2006)
Hum. Mol. Genet.
, vol.15
, pp. 555-568
-
-
Haacke, A.1
Broadley, S.A.2
Boteva, R.3
Tzvetkov, N.4
Hartl, F.U.5
Breuer, P.6
-
13
-
-
48749096173
-
PolyQ-expanded ataxin-3 interacts with full-length ataxin-3 in a polyQ length-dependent manner
-
Jia N.L., Fei E.K., Ying Z., Wang H.F., and Wang G.H. PolyQ-expanded ataxin-3 interacts with full-length ataxin-3 in a polyQ length-dependent manner. Neurosci. Bull. 24 (2008) 201-208
-
(2008)
Neurosci. Bull.
, vol.24
, pp. 201-208
-
-
Jia, N.L.1
Fei, E.K.2
Ying, Z.3
Wang, H.F.4
Wang, G.H.5
-
14
-
-
0033941398
-
Sisters homozygous for the spinocerebellar ataxia type 6 (SCA6)/CACNA1A gene associated with different clinical phenotypes
-
Kato T., Tanaka F., Yamamoto M., Yosida E., Indo T., Watanabe H., Yoshiwara T., Doyu M., and Sobue G. Sisters homozygous for the spinocerebellar ataxia type 6 (SCA6)/CACNA1A gene associated with different clinical phenotypes. Clin. Genet. 58 (2000) 69-73
-
(2000)
Clin. Genet.
, vol.58
, pp. 69-73
-
-
Kato, T.1
Tanaka, F.2
Yamamoto, M.3
Yosida, E.4
Indo, T.5
Watanabe, H.6
Yoshiwara, T.7
Doyu, M.8
Sobue, G.9
-
15
-
-
0028316870
-
A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats
-
Kremer B., Goldberg P., Andrew S.E., Theilmann J., Telenius H., Zeisler J., Squitieri F., Lin B., Bassett A., Almqvist E., Bird T.D., and Hayden M.R. A worldwide study of the Huntington's disease mutation. The sensitivity and specificity of measuring CAG repeats. N. Engl. J. Med. 330 (1994) 1401-1406
-
(1994)
N. Engl. J. Med.
, vol.330
, pp. 1401-1406
-
-
Kremer, B.1
Goldberg, P.2
Andrew, S.E.3
Theilmann, J.4
Telenius, H.5
Zeisler, J.6
Squitieri, F.7
Lin, B.8
Bassett, A.9
Almqvist, E.10
Bird, T.D.11
Hayden, M.R.12
-
16
-
-
0033546889
-
DNA analysis of Huntington's disease: five years of experience in Germany, Austria, and Switzerland
-
Laccone F., Engel U., Holinski-Feder E., Weigell-Weber M., Marczinek K., Nolte D., Morris-Rosendahl D.J., Zühlke C., Fuchs K., Weirich-Schwaiger H., Schlüter G., von Beust G., Vieira-Saecker A.M., Weber B.H., and Riess O. DNA analysis of Huntington's disease: five years of experience in Germany, Austria, and Switzerland. Neurology 53 (1999) 801-806
-
(1999)
Neurology
, vol.53
, pp. 801-806
-
-
Laccone, F.1
Engel, U.2
Holinski-Feder, E.3
Weigell-Weber, M.4
Marczinek, K.5
Nolte, D.6
Morris-Rosendahl, D.J.7
Zühlke, C.8
Fuchs, K.9
Weirich-Schwaiger, H.10
Schlüter, G.11
von Beust, G.12
Vieira-Saecker, A.M.13
Weber, B.H.14
Riess, O.15
-
17
-
-
0028024318
-
Homozygous inheritance of the Machado-Joseph disease gene
-
Lang A.E., Rogaeva E.A., Tsuda T., Hutterer J., and St George-Hyslop P. Homozygous inheritance of the Machado-Joseph disease gene. Ann. Neurol. 36 (1994) 443-447
-
(1994)
Ann. Neurol.
, vol.36
, pp. 443-447
-
-
Lang, A.E.1
Rogaeva, E.A.2
Tsuda, T.3
Hutterer, J.4
St George-Hyslop, P.5
-
18
-
-
0029864225
-
Machado-Joseph-disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation
-
Lerer I., Merims D., Abeliovich D., Zlotogora J., and Gadoth N. Machado-Joseph-disease: correlation between the clinical features, the CAG repeat length and homozygosity for the mutation. Eur. J. Hum. Genet. 4 (1996) 3-7
-
(1996)
Eur. J. Hum. Genet.
, vol.4
, pp. 3-7
-
-
Lerer, I.1
Merims, D.2
Abeliovich, D.3
Zlotogora, J.4
Gadoth, N.5
-
20
-
-
68749103450
-
CK2-dependent phosphorylation determines cellular localization and stability of ataxin-3
-
Mueller T., Breuer P., Schmitt I., Walter J., Evert B.O., and Wüllner U. CK2-dependent phosphorylation determines cellular localization and stability of ataxin-3. Hum. Mol. Genet. 18 (2009) 3334-3343
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 3334-3343
-
-
Mueller, T.1
Breuer, P.2
Schmitt, I.3
Walter, J.4
Evert, B.O.5
Wüllner, U.6
-
21
-
-
0024432090
-
Homozygote for Huntington disease
-
Myers R.H., Leavitt J., Farrer L.A., Jagadeesh J., McFarlane H., Mastromauro C.A., Mark R.J., and Gusella J.F. Homozygote for Huntington disease. Am. J. Hum. Genet. 45 (1989) 615-618
-
(1989)
Am. J. Hum. Genet.
, vol.45
, pp. 615-618
-
-
Myers, R.H.1
Leavitt, J.2
Farrer, L.A.3
Jagadeesh, J.4
McFarlane, H.5
Mastromauro, C.A.6
Mark, R.J.7
Gusella, J.F.8
-
22
-
-
0033550705
-
Neuronal degeneration in the basal ganglia and loss of pallido-subthalamic synapses in mice with targeted disruption of the Huntington's disease gene
-
O'Kusky J.R., Nasir J., Cicchetti F., Parent A., and Hayden M.R. Neuronal degeneration in the basal ganglia and loss of pallido-subthalamic synapses in mice with targeted disruption of the Huntington's disease gene. Brain Res. 818 (1999) 468-479
-
(1999)
Brain Res.
, vol.818
, pp. 468-479
-
-
O'Kusky, J.R.1
Nasir, J.2
Cicchetti, F.3
Parent, A.4
Hayden, M.R.5
-
23
-
-
44449114618
-
Homozygous SCA 2 mutations changes phenotype and hastens progression
-
Ragothaman M., and Muthane U. Homozygous SCA 2 mutations changes phenotype and hastens progression. Mov. Disord. 23 (2008) 770-771
-
(2008)
Mov. Disord.
, vol.23
, pp. 770-771
-
-
Ragothaman, M.1
Muthane, U.2
-
24
-
-
9144221463
-
Complex phenotypes in an Indian family with homozygous SCA2 mutations
-
Ragothaman M., Sarangmath N., Chaudhary S., Khare V., Mittal U., Sharma S., Komatireddy S., Chakrabarti S., Mukerji M., Juyal R.C., Thelma B.K., and Muthane U.B. Complex phenotypes in an Indian family with homozygous SCA2 mutations. Ann. Neurol. 55 (2004) 130-133
-
(2004)
Ann. Neurol.
, vol.55
, pp. 130-133
-
-
Ragothaman, M.1
Sarangmath, N.2
Chaudhary, S.3
Khare, V.4
Mittal, U.5
Sharma, S.6
Komatireddy, S.7
Chakrabarti, S.8
Mukerji, M.9
Juyal, R.C.10
Thelma, B.K.11
Muthane, U.B.12
-
25
-
-
65849514220
-
SCA3: neurological features, pathogenesis and animal models
-
Riess O., Rüb U., Pastore A., Bauer P., and Schöls L. SCA3: neurological features, pathogenesis and animal models. Cerebellum 7 (2008) 125-137
-
(2008)
Cerebellum
, vol.7
, pp. 125-137
-
-
Riess, O.1
Rüb, U.2
Pastore, A.3
Bauer, P.4
Schöls, L.5
-
26
-
-
0034657112
-
Wild-type huntingtin protects from apoptosis upstream of Caspase-3
-
Rigamonti D., Bauer J.H., De-Fraja C., Conti L., Sipione S., Sciorati C., Clementi E., Hackam A., Hayden M.R., Li Y., Cooper J.K., Ross C.A., Govoni S., Vincenz C., and Cattaneo E. Wild-type huntingtin protects from apoptosis upstream of Caspase-3. J. Neurosci. 20 (2000) 3705-3713
-
(2000)
J. Neurosci.
, vol.20
, pp. 3705-3713
-
-
Rigamonti, D.1
Bauer, J.H.2
De-Fraja, C.3
Conti, L.4
Sipione, S.5
Sciorati, C.6
Clementi, E.7
Hackam, A.8
Hayden, M.R.9
Li, Y.10
Cooper, J.K.11
Ross, C.A.12
Govoni, S.13
Vincenz, C.14
Cattaneo, E.15
-
27
-
-
0031255352
-
Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment
-
Rogers D.C., Fisher E.M., Brown S.D., Peters J., Hunter A.J., and Martin J.E. Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment. Mamm. Genome 8 (1997) 711-713
-
(1997)
Mamm. Genome
, vol.8
, pp. 711-713
-
-
Rogers, D.C.1
Fisher, E.M.2
Brown, S.D.3
Peters, J.4
Hunter, A.J.5
Martin, J.E.6
-
28
-
-
0029431673
-
Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy?
-
Sato K., Kashihara K., Okada S., Ikeuchi T., Tsuji S., Shomori T., Morimoto K., and Hayabara T. Does homozygosity advance the onset of dentatorubral-pallidoluysian atrophy?. Neurology 45 (1995) 1934-1936
-
(1995)
Neurology
, vol.45
, pp. 1934-1936
-
-
Sato, K.1
Kashihara, K.2
Okada, S.3
Ikeuchi, T.4
Tsuji, S.5
Shomori, T.6
Morimoto, K.7
Hayabara, T.8
-
29
-
-
3042717240
-
Cellular toxicity of polyglutamine expansion proteins: mechanism of transcription factor deactivation
-
Schaffar G., Breuer P., Boteva R., Behrends C., Tzvetkov N., Strippel N., Sakahira H., Siegers K., Hayer-Hartl M., and Hartl F.U. Cellular toxicity of polyglutamine expansion proteins: mechanism of transcription factor deactivation. Mol. Cell. 15 (2004) 95-105
-
(2004)
Mol. Cell.
, vol.15
, pp. 95-105
-
-
Schaffar, G.1
Breuer, P.2
Boteva, R.3
Behrends, C.4
Tzvetkov, N.5
Strippel, N.6
Sakahira, H.7
Siegers, K.8
Hayer-Hartl, M.9
Hartl, F.U.10
-
30
-
-
11144356369
-
Autosomal dominant cerebellar ataxia: clinical features, genetics, and pathogenesis
-
Schöls L., Bauer P., Schmidt T., Schulte T., and Riess O. Autosomal dominant cerebellar ataxia: clinical features, genetics, and pathogenesis. Lancet. Neurol. 3 (2004) 291-304
-
(2004)
Lancet. Neurol.
, vol.3
, pp. 291-304
-
-
Schöls, L.1
Bauer, P.2
Schmidt, T.3
Schulte, T.4
Riess, O.5
-
31
-
-
0037379416
-
Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course
-
Squitieri F., Gellera C., Cannella M., Mariotti C., Cislaghi G., Rubinsztein D.C., Almqvist E.W., Turner D., Bachoud-Levi A.C., Simpson S.A., Delatycki M., Maglione V., Hayden M.R., and Donato S.D. Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course. Brain 126 (2003) 946-955
-
(2003)
Brain
, vol.126
, pp. 946-955
-
-
Squitieri, F.1
Gellera, C.2
Cannella, M.3
Mariotti, C.4
Cislaghi, G.5
Rubinsztein, D.C.6
Almqvist, E.W.7
Turner, D.8
Bachoud-Levi, A.C.9
Simpson, S.A.10
Delatycki, M.11
Maglione, V.12
Hayden, M.R.13
Donato, S.D.14
-
32
-
-
0842282678
-
SCA17 homozygote showing Huntington's disease-like phenotype
-
Toyoshima Y., Yamada M., Onodera O., Shimohata M., Inenaga C., Fujita N., Morita M., Tsuji S., and Takahashi H. SCA17 homozygote showing Huntington's disease-like phenotype. Ann. Neurol. 55 (2004) 281-286
-
(2004)
Ann. Neurol.
, vol.55
, pp. 281-286
-
-
Toyoshima, Y.1
Yamada, M.2
Onodera, O.3
Shimohata, M.4
Inenaga, C.5
Fujita, N.6
Morita, M.7
Tsuji, S.8
Takahashi, H.9
-
33
-
-
15944419824
-
Ataxin-3 suppresses polyglutamine neurodegeneration in Drosophila by a ubiquitin-associated mechanism
-
Warrick J.M., Morabito L.M., Bilen J., Gordesky-Gold B., Faust L.Z., Paulson H.L., and Bonini N.M. Ataxin-3 suppresses polyglutamine neurodegeneration in Drosophila by a ubiquitin-associated mechanism. Mol. Cell. 18 (2005) 37-48
-
(2005)
Mol. Cell.
, vol.18
, pp. 37-48
-
-
Warrick, J.M.1
Morabito, L.M.2
Bilen, J.3
Gordesky-Gold, B.4
Faust, L.Z.5
Paulson, H.L.6
Bonini, N.M.7
-
34
-
-
0029130168
-
Identification of a signal for rapid export of proteins from the nucleus
-
Wen W., Meinkoth J.L., Tsien R.Y., and Taylor S.S. Identification of a signal for rapid export of proteins from the nucleus. Cell 82 (1995) 463-473
-
(1995)
Cell
, vol.82
, pp. 463-473
-
-
Wen, W.1
Meinkoth, J.L.2
Tsien, R.Y.3
Taylor, S.S.4
-
35
-
-
0023115076
-
Homozygotes for Huntington's disease
-
Wexler N.S., Young A.B., Tanzi R.E., Travers H., Starosta-Rubinstein S., Penney J.B., Snodgrass S.R., Shoulson I., Gomez F., Ramos Arroyo M.A., et al. Homozygotes for Huntington's disease. Nature 326 (1987) 194-197
-
(1987)
Nature
, vol.326
, pp. 194-197
-
-
Wexler, N.S.1
Young, A.B.2
Tanzi, R.E.3
Travers, H.4
Starosta-Rubinstein, S.5
Penney, J.B.6
Snodgrass, S.R.7
Shoulson, I.8
Gomez, F.9
Ramos Arroyo, M.A.10
-
36
-
-
0037701612
-
Huntingtin contains a highly conserved nuclear export signal
-
Xia J., Lee D.H., Taylor J., Vandelft M., and Truant R. Huntingtin contains a highly conserved nuclear export signal. Hum. Mol. Gent. 12 (2004) 1393-1403
-
(2004)
Hum. Mol. Gent.
, vol.12
, pp. 1393-1403
-
-
Xia, J.1
Lee, D.H.2
Taylor, J.3
Vandelft, M.4
Truant, R.5
-
37
-
-
0141531987
-
Depletion of wild-type huntingtin in mouse models of neurologic diseases
-
Zhang Y., Li M., Droza M., Chen M., Ren S., Mejia Sanchez R.O., Leavitt B.R., Cattaneo E., Ferrante R.J., Hayden M.R., and Friedlander R.M. Depletion of wild-type huntingtin in mouse models of neurologic diseases. J. Neurochem. 87 (2003) 101-106
-
(2003)
J. Neurochem.
, vol.87
, pp. 101-106
-
-
Zhang, Y.1
Li, M.2
Droza, M.3
Chen, M.4
Ren, S.5
Mejia Sanchez, R.O.6
Leavitt, B.R.7
Cattaneo, E.8
Ferrante, R.J.9
Hayden, M.R.10
Friedlander, R.M.11
-
38
-
-
0042921421
-
SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6
-
Zühlke C.H., Spranger M., Spranger S., Voigt R., Lanz M., Gehlken U., Hinrichs F., and Schwinger E. SCA17 caused by homozygous repeat expansion in TBP due to partial isodisomy 6. Eur. J. Hum. Genet. 11 (2003) 629-632
-
(2003)
Eur. J. Hum. Genet.
, vol.11
, pp. 629-632
-
-
Zühlke, C.H.1
Spranger, M.2
Spranger, S.3
Voigt, R.4
Lanz, M.5
Gehlken, U.6
Hinrichs, F.7
Schwinger, E.8
|