-
2
-
-
78651375860
-
Parkinson disease: genetic testing in Parkinson disease-who should be assessed?
-
Klein C., Djarmati A. Parkinson disease: genetic testing in Parkinson disease-who should be assessed?. Nat Rev Neurol 2011, 7:7-9.
-
(2011)
Nat Rev Neurol
, vol.7
, pp. 7-9
-
-
Klein, C.1
Djarmati, A.2
-
3
-
-
0036789093
-
Mechanisms and consequences of somatic mosaicism in humans
-
Youssoufian H., Pyeritz R.E. Mechanisms and consequences of somatic mosaicism in humans. Nat Rev Genet 2002, 3:748-758.
-
(2002)
Nat Rev Genet
, vol.3
, pp. 748-758
-
-
Youssoufian, H.1
Pyeritz, R.E.2
-
4
-
-
51549095601
-
Somatic mosaicism for copy number variation in differentiated human tissues
-
Piotrowski A., Bruder C.E., Andersson R., de Stahl T.D., Menzel U., Sandgren J., et al. Somatic mosaicism for copy number variation in differentiated human tissues. Hum Mutat 2008, 29:1118-1124.
-
(2008)
Hum Mutat
, vol.29
, pp. 1118-1124
-
-
Piotrowski, A.1
Bruder, C.E.2
Andersson, R.3
de Stahl, T.D.4
Menzel, U.5
Sandgren, J.6
-
5
-
-
3042856300
-
Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease
-
Beck J.A., Poulter M., Campbell T.A., Uphill J.B., Adamson G., Geddes J.F., et al. Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease. Hum Mol Genet 2004, 13:1219-1224.
-
(2004)
Hum Mol Genet
, vol.13
, pp. 1219-1224
-
-
Beck, J.A.1
Poulter, M.2
Campbell, T.A.3
Uphill, J.B.4
Adamson, G.5
Geddes, J.F.6
-
6
-
-
0242300619
-
Alpha-Synuclein locus triplication causes Parkinson's disease
-
Singleton A.B., Farrer M., Johnson J., Singleton A., Hague S., Kachergus J., et al. alpha-Synuclein locus triplication causes Parkinson's disease. Science 2003, 302:841.
-
(2003)
Science
, vol.302
, pp. 841
-
-
Singleton, A.B.1
Farrer, M.2
Johnson, J.3
Singleton, A.4
Hague, S.5
Kachergus, J.6
-
7
-
-
37849012348
-
Alpha-Synuclein gene duplication is present in sporadic Parkinson disease
-
Ahn T.B., Kim S.Y., Kim J.Y., Park S.S., Lee D.S., Min H.J., et al. alpha-Synuclein gene duplication is present in sporadic Parkinson disease. Neurology 2008, 70:43-49.
-
(2008)
Neurology
, vol.70
, pp. 43-49
-
-
Ahn, T.B.1
Kim, S.Y.2
Kim, J.Y.3
Park, S.S.4
Lee, D.S.5
Min, H.J.6
-
8
-
-
80052886551
-
Looking for differences in copy number between blood and brain in sporadic amyotrophic lateral sclerosis
-
10.1002/mus.22095 [Epub ahead of print]
-
Pamphlett R., Morahan J.M., Luquin N., Yu B. Looking for differences in copy number between blood and brain in sporadic amyotrophic lateral sclerosis. Muscle Nerve 2011, 10.1002/mus.22095 [Epub ahead of print].
-
(2011)
Muscle Nerve
-
-
Pamphlett, R.1
Morahan, J.M.2
Luquin, N.3
Yu, B.4
-
9
-
-
0028925223
-
The ryanodine receptor/calcium channel genes are widely and differentially expressed in murine brain and peripheral tissues
-
Giannini G., Conti A., Mammarella S., Scrobogna M., Sorrentino V. The ryanodine receptor/calcium channel genes are widely and differentially expressed in murine brain and peripheral tissues. JCell Biol 1995, 128:893-904.
-
(1995)
JCell Biol
, vol.128
, pp. 893-904
-
-
Giannini, G.1
Conti, A.2
Mammarella, S.3
Scrobogna, M.4
Sorrentino, V.5
-
10
-
-
77957968209
-
Acomprehensive analysis of deletions, multiplications, and copy number variations in PARK2
-
Kay D.M., Stevens C.F., Hamza T.H., Montimurro J.S., Zabetian C.P., Factor S.A., et al. Acomprehensive analysis of deletions, multiplications, and copy number variations in PARK2. Neurology 2010, 75:1189-1194.
-
(2010)
Neurology
, vol.75
, pp. 1189-1194
-
-
Kay, D.M.1
Stevens, C.F.2
Hamza, T.H.3
Montimurro, J.S.4
Zabetian, C.P.5
Factor, S.A.6
-
11
-
-
79960983213
-
Copy number imbalances in blood and hair in monozygotic twins discordant for amyotrophic lateral sclerosis
-
Pamphlett R., Morahan J.M. Copy number imbalances in blood and hair in monozygotic twins discordant for amyotrophic lateral sclerosis. JClin Neurosci 2011, 18:1231-1234.
-
(2011)
JClin Neurosci
, vol.18
, pp. 1231-1234
-
-
Pamphlett, R.1
Morahan, J.M.2
-
12
-
-
58149218240
-
High-resolution mapping of copy-number alterations with massively parallel sequencing
-
Chiang D.Y., Getz G., Jaffe D.B., O'Kelly M.J., Zhao X., Carter S.L., et al. High-resolution mapping of copy-number alterations with massively parallel sequencing. Nat Methods 2009, 6:99-103.
-
(2009)
Nat Methods
, vol.6
, pp. 99-103
-
-
Chiang, D.Y.1
Getz, G.2
Jaffe, D.B.3
O'Kelly, M.J.4
Zhao, X.5
Carter, S.L.6
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