-
1
-
-
84874325209
-
Complication begets clarification in classification
-
Barkovich J. Complication begets clarification in classification. Brain 2013, 136:368-373.
-
(2013)
Brain
, vol.136
, pp. 368-373
-
-
Barkovich, J.1
-
2
-
-
84887281294
-
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria
-
Sajan S.A., Fernandez L., Nieh S.E., Rider E., Bukshpun P., Wakahiro M., et al. Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria. PLoS Genet 2013, 9:e1003823.
-
(2013)
PLoS Genet
, vol.9
, pp. e1003823
-
-
Sajan, S.A.1
Fernandez, L.2
Nieh, S.E.3
Rider, E.4
Bukshpun, P.5
Wakahiro, M.6
-
3
-
-
71849097199
-
Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia
-
Abdollahi M.R., Morrison E., Sirey T., Molnar Z., Hayward B.E., Carr I.M., et al. Mutation of the variant alpha-tubulin TUBA8 results in polymicrogyria with optic nerve hypoplasia. Am J Hum Genet 2009, 85:737-744.
-
(2009)
Am J Hum Genet
, vol.85
, pp. 737-744
-
-
Abdollahi, M.R.1
Morrison, E.2
Sirey, T.3
Molnar, Z.4
Hayward, B.E.5
Carr, I.M.6
-
4
-
-
67349176352
-
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria
-
Jaglin X.H., Poirier K., Saillour Y., Buhler E., Tian G., Bahi-Buisson N., et al. Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. Nat Genet 2009, 41:746-752.
-
(2009)
Nat Genet
, vol.41
, pp. 746-752
-
-
Jaglin, X.H.1
Poirier, K.2
Saillour, Y.3
Buhler, E.4
Tian, G.5
Bahi-Buisson, N.6
-
5
-
-
78650515869
-
The role of Tuba1a in adult hippocampal neurogenesis and the formation of the dentate gyrus
-
Keays D.A., Cleak J., Huang G.J., Edwards A., Braun A., Treiber C.D., et al. The role of Tuba1a in adult hippocampal neurogenesis and the formation of the dentate gyrus. Dev Neurosci 2010, 32:268-277.
-
(2010)
Dev Neurosci
, vol.32
, pp. 268-277
-
-
Keays, D.A.1
Cleak, J.2
Huang, G.J.3
Edwards, A.4
Braun, A.5
Treiber, C.D.6
-
6
-
-
77954505218
-
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins
-
Kumar R.A., Pilz D.T., Babatz T.D., Cushion T.D., Harvey K., Topf M., et al. TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Hum Mol Genet 2010, 19:2817-2827.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 2817-2827
-
-
Kumar, R.A.1
Pilz, D.T.2
Babatz, T.D.3
Cushion, T.D.4
Harvey, K.5
Topf, M.6
-
7
-
-
77957908349
-
Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects
-
Poirier K., Saillour Y., Bahi-Buisson N., Jaglin X.H., Fallet-Bianco C., Nabbout R., et al. Mutations in the neuronal β-tubulin subunit TUBB3 result in malformation of cortical development and neuronal migration defects. Hum Mol Genet 2010, 19:4462-4473.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 4462-4473
-
-
Poirier, K.1
Saillour, Y.2
Bahi-Buisson, N.3
Jaglin, X.H.4
Fallet-Bianco, C.5
Nabbout, R.6
-
8
-
-
73349096922
-
Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance
-
Tischfield M.A., Baris H.N., Wu C., Rudolph G., Van Maldergem L., He W., et al. Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance. Cell 2010, 140:74-87.
-
(2010)
Cell
, vol.140
, pp. 74-87
-
-
Tischfield, M.A.1
Baris, H.N.2
Wu, C.3
Rudolph, G.4
Van Maldergem, L.5
He, W.6
-
9
-
-
79957626260
-
Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations
-
Tischfield M.A., Cederquist G.Y., Gupta M.L., Engle E.C. Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations. Curr Opin Genet Dev 2011, 21:286-294.
-
(2011)
Curr Opin Genet Dev
, vol.21
, pp. 286-294
-
-
Tischfield, M.A.1
Cederquist, G.Y.2
Gupta, M.L.3
Engle, E.C.4
-
10
-
-
70449720657
-
Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects
-
Jaglin X.H., Chelly J. Tubulin-related cortical dysgeneses: microtubule dysfunction underlying neuronal migration defects. Trends Genet 2009, 25:555-566.
-
(2009)
Trends Genet
, vol.25
, pp. 555-566
-
-
Jaglin, X.H.1
Chelly, J.2
-
11
-
-
77956124765
-
Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway
-
Tian G., Jaglin X.H., Keays D.A., Francis F., Chelly J., Cowan N.J. Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway. Hum Mol Genet 2010, 19:3599-3613.
-
(2010)
Hum Mol Genet
, vol.19
, pp. 3599-3613
-
-
Tian, G.1
Jaglin, X.H.2
Keays, D.A.3
Francis, F.4
Chelly, J.5
Cowan, N.J.6
-
12
-
-
73149108817
-
MicroTUB(B3)ules and brain development
-
Singh K.K., Tsai L.H. MicroTUB(B3)ules and brain development. Cell 2010, 140:30-32.
-
(2010)
Cell
, vol.140
, pp. 30-32
-
-
Singh, K.K.1
Tsai, L.H.2
-
13
-
-
84898723196
-
De novo mutations in the Beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy
-
Cushion T.D., Paciorkowski A.R., Pilz D.T., Mullins J.G., Seltzer L.E., Marion R.W., et al. De novo mutations in the Beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy. Am J Hum Genet 2014, 94:634-641.
-
(2014)
Am J Hum Genet
, vol.94
, pp. 634-641
-
-
Cushion, T.D.1
Paciorkowski, A.R.2
Pilz, D.T.3
Mullins, J.G.4
Seltzer, L.E.5
Marion, R.W.6
-
14
-
-
84871690886
-
Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities
-
Breuss M., Heng J.I., Poirier K., Tian G., Jaglin X.H., Qu Z., et al. Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities. Cell Rep 2012, 2:1554-1562.
-
(2012)
Cell Rep
, vol.2
, pp. 1554-1562
-
-
Breuss, M.1
Heng, J.I.2
Poirier, K.3
Tian, G.4
Jaglin, X.H.5
Qu, Z.6
-
15
-
-
84900500572
-
Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene
-
Blumkin L., Halevy A., Ben-Ami-Raichman D., Dahari D., Haviv A. Expansion of the spectrum of TUBB4A-related disorders: a new phenotype associated with a novel mutation in the TUBB4A gene. Neurogenetics 2014, 15:107-113.
-
(2014)
Neurogenetics
, vol.15
, pp. 107-113
-
-
Blumkin, L.1
Halevy, A.2
Ben-Ami-Raichman, D.3
Dahari, D.4
Haviv, A.5
-
16
-
-
84902536064
-
Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC)
-
[Apr 4, Epub ahead of print]
-
Ferreira C., Poretti A., Cohen J., Hamosh A., Naidu S. Novel TUBB4A mutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC). Am J Med Genet A 2014, [Apr 4, Epub ahead of print]. 10.1002/ajmg.a.36526.
-
(2014)
Am J Med Genet A
-
-
Ferreira, C.1
Poretti, A.2
Cohen, J.3
Hamosh, A.4
Naidu, S.5
-
17
-
-
84901065534
-
Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy
-
[Feb 10, Epub ahead of print]
-
Purnell S.M., Bleyl S.B., Bonkowsky J.L. Clinical exome sequencing identifies a novel TUBB4A mutation in a child with static hypomyelinating leukodystrophy. Pediatr Neurol 2014, [Feb 10, pii: S0887-8994(14)00086-1, Epub ahead of print]. 10.1016/j.pediatrneurol.2014.01.051.
-
(2014)
Pediatr Neurol
-
-
Purnell, S.M.1
Bleyl, S.B.2
Bonkowsky, J.L.3
-
18
-
-
84903532539
-
Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation
-
[Apr 30, Epub ahead of print]
-
Hamilton E.M., Polder E., Vanderver A., Naidu S., Schiffmann R., Fisher K., et al. Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype-phenotype correlation. Brain 2014, [Apr 30, Epub ahead of print].
-
(2014)
Brain
-
-
Hamilton, E.M.1
Polder, E.2
Vanderver, A.3
Naidu, S.4
Schiffmann, R.5
Fisher, K.6
-
19
-
-
77954745047
-
Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis
-
Tischfield M.A., Engle E.C. Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis. Biosci Rep 2010, 30:319-330.
-
(2010)
Biosci Rep
, vol.30
, pp. 319-330
-
-
Tischfield, M.A.1
Engle, E.C.2
-
20
-
-
84880675455
-
Direct binding of TUBB3 with DCC couples netrin-1 signaling to intracellular microtubule dynamics in axon outgrowth and guidance
-
Qu C., Dwyer T., Shao Q., Yang T., Huang H., Liu G. Direct binding of TUBB3 with DCC couples netrin-1 signaling to intracellular microtubule dynamics in axon outgrowth and guidance. J Cell Sci 2013, 126:3070-3081.
-
(2013)
J Cell Sci
, vol.126
, pp. 3070-3081
-
-
Qu, C.1
Dwyer, T.2
Shao, Q.3
Yang, T.4
Huang, H.5
Liu, G.6
-
21
-
-
84874342214
-
Overlapping cortical malformations and mutations in TUBB2B and TUBA1A
-
Cushion T.D., Dobyns W.B., Mullins J.G., Stoodley N., Chung S.K., Fry A.E., et al. Overlapping cortical malformations and mutations in TUBB2B and TUBA1A. Brain 2013, 136:536-548.
-
(2013)
Brain
, vol.136
, pp. 536-548
-
-
Cushion, T.D.1
Dobyns, W.B.2
Mullins, J.G.3
Stoodley, N.4
Chung, S.K.5
Fry, A.E.6
-
22
-
-
84874324759
-
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3
-
Chew S., Balasubramanian R., Chan W.M., Kang P.B., Andrews C., Webb B.D., et al. A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3. Brain 2013, 136:522-535.
-
(2013)
Brain
, vol.136
, pp. 522-535
-
-
Chew, S.1
Balasubramanian, R.2
Chan, W.M.3
Kang, P.B.4
Andrews, C.5
Webb, B.D.6
-
23
-
-
77951955554
-
Tuba8 is expressed at low levels in the developing mouse and human brain
-
Braun A., Breuss M., Salzer M.C., Flint J., Cowan N.J., Keays D.A. Tuba8 is expressed at low levels in the developing mouse and human brain. Am J Hum Genet 2010, 86:819-822.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 819-822
-
-
Braun, A.1
Breuss, M.2
Salzer, M.C.3
Flint, J.4
Cowan, N.J.5
Keays, D.A.6
-
24
-
-
35648991438
-
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A)
-
Poirier K., Keays D.A., Francis F., Saillour Y., Bahi N., Manouvrier S., et al. Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat 2007, 28:1055-1064.
-
(2007)
Hum Mutat
, vol.28
, pp. 1055-1064
-
-
Poirier, K.1
Keays, D.A.2
Francis, F.3
Saillour, Y.4
Bahi, N.5
Manouvrier, S.6
-
25
-
-
54049085347
-
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations
-
Bahi-Buisson N., Poirier K., Boddaert N., Saillour Y., Castelnau L., Philip N., et al. Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. J Med Genet 2008, 45:647-653.
-
(2008)
J Med Genet
, vol.45
, pp. 647-653
-
-
Bahi-Buisson, N.1
Poirier, K.2
Boddaert, N.3
Saillour, Y.4
Castelnau, L.5
Philip, N.6
-
26
-
-
50849083792
-
Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A
-
Fallet-Bianco C., Loeuillet L., Poirier K., Loget P., Chapon F., Pasquier L., et al. Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A. Brain 2008, 131:2304-2320.
-
(2008)
Brain
, vol.131
, pp. 2304-2320
-
-
Fallet-Bianco, C.1
Loeuillet, L.2
Poirier, K.3
Loget, P.4
Chapon, F.5
Pasquier, L.6
-
27
-
-
53949087784
-
Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly
-
Morris-Rosendahl D.J., Najm J., Lachmeijer A.M., Sztriha L., Martins M., Kuechler A., et al. Refining the phenotype of alpha-1a Tubulin (TUBA1A) mutation in patients with classical lissencephaly. Clin Genet 2008, 74:425-433.
-
(2008)
Clin Genet
, vol.74
, pp. 425-433
-
-
Morris-Rosendahl, D.J.1
Najm, J.2
Lachmeijer, A.M.3
Sztriha, L.4
Martins, M.5
Kuechler, A.6
-
28
-
-
77953027185
-
Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype
-
Lecourtois M., Poirier K., Friocourt G., Jaglin X., Goldenberg A., Saugier-Veber P., et al. Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype. Acta Neuropathol 2010, 119:779-789.
-
(2010)
Acta Neuropathol
, vol.119
, pp. 779-789
-
-
Lecourtois, M.1
Poirier, K.2
Friocourt, G.3
Jaglin, X.4
Goldenberg, A.5
Saugier-Veber, P.6
-
29
-
-
79953227409
-
TUBA1A mutations. From isolated lissenchephaly to familial polymicrogyria
-
Jansen A.C., Oostra A., Desprechins B., De Vlaeminck Y., Verhelst H., Régal L., et al. TUBA1A mutations. From isolated lissenchephaly to familial polymicrogyria. Neurology 2011, 76:988-992.
-
(2011)
Neurology
, vol.76
, pp. 988-992
-
-
Jansen, A.C.1
Oostra, A.2
Desprechins, B.3
De Vlaeminck, Y.4
Verhelst, H.5
Régal, L.6
-
30
-
-
84870198309
-
Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary
-
Mokánszki A., Körhegyi I., Szabó N., Bereg E., Gergev G., Balogh E., et al. Lissencephaly and band heterotopia: LIS1, TUBA1A, and DCX mutations in Hungary. J Child Neurol 2012, 27:1534-1540.
-
(2012)
J Child Neurol
, vol.27
, pp. 1534-1540
-
-
Mokánszki, A.1
Körhegyi, I.2
Szabó, N.3
Bereg, E.4
Gergev, G.5
Balogh, E.6
-
31
-
-
84856080222
-
TUBA1A mutation-associated lissencephaly: case report and review of the literature
-
Sohal A.P., Montgomery T., Mitra D., Ramesh V. TUBA1A mutation-associated lissencephaly: case report and review of the literature. Pediatr Neurol 2012, 46:127-131.
-
(2012)
Pediatr Neurol
, vol.46
, pp. 127-131
-
-
Sohal, A.P.1
Montgomery, T.2
Mitra, D.3
Ramesh, V.4
-
32
-
-
84891628619
-
A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease
-
Hikita N., Hattori H., Kato M., Sakuma S., Morotomi Y., Ishida H., et al. A case of TUBA1A mutation presenting with lissencephaly and Hirschsprung disease. Brain Dev 2014, 36:159-162.
-
(2014)
Brain Dev
, vol.36
, pp. 159-162
-
-
Hikita, N.1
Hattori, H.2
Kato, M.3
Sakuma, S.4
Morotomi, Y.5
Ishida, H.6
-
33
-
-
84873745761
-
Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation
-
Okumura A., Hayashi M., Tsurui H., Yamakawa Y., Abe S., Kudo T., et al. Lissencephaly with marked ventricular dilation, agenesis of corpus callosum, and cerebellar hypoplasia caused by TUBA1A mutation. Brain Dev 2013, 35:274-279.
-
(2013)
Brain Dev
, vol.35
, pp. 274-279
-
-
Okumura, A.1
Hayashi, M.2
Tsurui, H.3
Yamakawa, Y.4
Abe, S.5
Kudo, T.6
-
34
-
-
84875050056
-
Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria
-
Poirier K., Saillour Y., Fourniol F., Francis F., Souville I., Valence S., et al. Expanding the spectrum of TUBA1A-related cortical dysgenesis to Polymicrogyria. Eur J Hum Genet 2013, 21:381-385.
-
(2013)
Eur J Hum Genet
, vol.21
, pp. 381-385
-
-
Poirier, K.1
Saillour, Y.2
Fourniol, F.3
Francis, F.4
Souville, I.5
Valence, S.6
-
35
-
-
84878831109
-
Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis
-
Zanni G., Colafati G.S., Barresi S., Randisi F., Talamanca L.F., Genovese E., et al. Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis. Eur J Paediatr Neurol 2013, 17:361-365.
-
(2013)
Eur J Paediatr Neurol
, vol.17
, pp. 361-365
-
-
Zanni, G.1
Colafati, G.S.2
Barresi, S.3
Randisi, F.4
Talamanca, L.F.5
Genovese, E.6
-
36
-
-
84870768560
-
An inherited TUBB2B mutation alters a kinesinbinding site and causes polymicrogyria, CFEOM, and axon dysinnervation
-
Cederquist G.Y., Luchniak A., Tischfield M.A., Peeva M., Song Y., Menezes M.P., et al. An inherited TUBB2B mutation alters a kinesinbinding site and causes polymicrogyria, CFEOM, and axon dysinnervation. Hum Mol Genet 2012, 21:5484-5499.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 5484-5499
-
-
Cederquist, G.Y.1
Luchniak, A.2
Tischfield, M.A.3
Peeva, M.4
Song, Y.5
Menezes, M.P.6
-
37
-
-
84865226287
-
Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations
-
Guerrini R., Mei D., Cordelli D.M., Pucatti D., Franzoni E., Parrini E. Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations. Eur J Hum Genet 2012, 20:995-998.
-
(2012)
Eur J Hum Genet
, vol.20
, pp. 995-998
-
-
Guerrini, R.1
Mei, D.2
Cordelli, D.M.3
Pucatti, D.4
Franzoni, E.5
Parrini, E.6
-
38
-
-
84863777103
-
A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance
-
Romaniello R., Tonelli A., Arrigoni F., Baschirotto C., Triulzi F., Bresolin N., et al. A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance. Dev Med Child Neurol 2012, 54:765-769.
-
(2012)
Dev Med Child Neurol
, vol.54
, pp. 765-769
-
-
Romaniello, R.1
Tonelli, A.2
Arrigoni, F.3
Baschirotto, C.4
Triulzi, F.5
Bresolin, N.6
-
39
-
-
73049084499
-
The beta-tubulin gene TUBB2B is involved in a large spectrum of neuronal migration disorders
-
Uribe V. The beta-tubulin gene TUBB2B is involved in a large spectrum of neuronal migration disorders. Clin Genet 2010, 77:34-35.
-
(2010)
Clin Genet
, vol.77
, pp. 34-35
-
-
Uribe, V.1
-
40
-
-
84894383692
-
Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown
-
Saillour Y., Broix L., Bruel-Jungerman E., Lebrun N., Muraca G., Rucci J., et al. Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown. Hum Mol Genet 2014, 23:1516-1526.
-
(2014)
Hum Mol Genet
, vol.23
, pp. 1516-1526
-
-
Saillour, Y.1
Broix, L.2
Bruel-Jungerman, E.3
Lebrun, N.4
Muraca, G.5
Rucci, J.6
-
41
-
-
84892450208
-
Polymicrogyria with dysmorphic basal ganglia? Think tubulin!
-
[Mar 15, Epub ahead of print]
-
Amrom D., Tanyalçin I., Verhelst H., Deconinck N., Brouhard G., Décarie J.C., et al. Polymicrogyria with dysmorphic basal ganglia? Think tubulin!. Clin Genet 2013, [Mar 15, Epub ahead of print]. 10.1111/cge.12141.
-
(2013)
Clin Genet
-
-
Amrom, D.1
Tanyalçin, I.2
Verhelst, H.3
Deconinck, N.4
Brouhard, G.5
Décarie, J.C.6
-
42
-
-
84896099926
-
Brain malformations and mutations in α and β tubulin genes: a review of the literature and description of two new cases
-
Romaniello R., Arrigoni F., Cavallini A., Tenderini E., Baschirotto C., Triulzi F., et al. Brain malformations and mutations in α and β tubulin genes: a review of the literature and description of two new cases. Dev Med Child Neurol 2014, 56:354-360.
-
(2014)
Dev Med Child Neurol
, vol.56
, pp. 354-360
-
-
Romaniello, R.1
Arrigoni, F.2
Cavallini, A.3
Tenderini, E.4
Baschirotto, C.5
Triulzi, F.6
-
43
-
-
84878408023
-
Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia
-
Hersheson J., Mencacci N.E., Davis M., MacDonald N., Trabzuni D., Ryten M., et al. Mutations in the autoregulatory domain of β-tubulin 4a cause hereditary dystonia. Ann Neurol 2013, 73:546-553.
-
(2013)
Ann Neurol
, vol.73
, pp. 546-553
-
-
Hersheson, J.1
Mencacci, N.E.2
Davis, M.3
MacDonald, N.4
Trabzuni, D.5
Ryten, M.6
-
44
-
-
84876874253
-
Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene
-
Lohmann K., Wilcox R.A., Winkler S., Ramirez A., Rakovic A., Park J.S., et al. Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene. Ann Neurol 2013, 73:537.
-
(2013)
Ann Neurol
, vol.73
, pp. 537
-
-
Lohmann, K.1
Wilcox, R.A.2
Winkler, S.3
Ramirez, A.4
Rakovic, A.5
Park, J.S.6
|