-
1
-
-
80052780004
-
Translation initiator EIF4G1 mutations in familial Parkinson disease
-
Chartier-Harlin M.C., Dachsel J.C., Vilariño-Güell C., Lincoln S.J., Leprêtre F., Hulihan M.M., Kachergus J., Milnerwood A.J., Tapia L., Song M.S., Le Rhun E., Mutez E., Larvor L., Duflot A., Vanbesien-Mailliot C., Kreisler A., Ross O.A., Nishioka K., Soto-Ortolaza A.I., Cobb S.A., Melrose H.L., Behrouz B., Keeling B.H., Bacon J.A., Hentati E., Williams L., Yanagiya A., Sonenberg N., Lockhart P.J., Zubair A.C., Uitti R.J., Aasly J.O., Krygowska-Wajs A., Opala G., Wszolek Z.K., Frigerio R., Maraganore D.M., Gosal D., Lynch T., Hutchinson M., Bentivoglio A.R., Valente E.M., Nichols W.C., Pankratz N., Foroud T., Gibson R.A., Hentati F., Dickson D.W., Destee A., Farrer M.J. Translation initiator EIF4G1 mutations in familial Parkinson disease. Am. J. Hum. Genet 2011, 89:398-406.
-
(2011)
Am. J. Hum. Genet
, vol.89
, pp. 398-406
-
-
Chartier-Harlin, M.C.1
Dachsel, J.C.2
Vilariño-Güell, C.3
Lincoln, S.J.4
Leprêtre, F.5
Hulihan, M.M.6
Kachergus, J.7
Milnerwood, A.J.8
Tapia, L.9
Song, M.S.10
Le Rhun, E.11
Mutez, E.12
Larvor, L.13
Duflot, A.14
Vanbesien-Mailliot, C.15
Kreisler, A.16
Ross, O.A.17
Nishioka, K.18
Soto-Ortolaza, A.I.19
Cobb, S.A.20
Melrose, H.L.21
Behrouz, B.22
Keeling, B.H.23
Bacon, J.A.24
Hentati, E.25
Williams, L.26
Yanagiya, A.27
Sonenberg, N.28
Lockhart, P.J.29
Zubair, A.C.30
Uitti, R.J.31
Aasly, J.O.32
Krygowska-Wajs, A.33
Opala, G.34
Wszolek, Z.K.35
Frigerio, R.36
Maraganore, D.M.37
Gosal, D.38
Lynch, T.39
Hutchinson, M.40
Bentivoglio, A.R.41
Valente, E.M.42
Nichols, W.C.43
Pankratz, N.44
Foroud, T.45
Gibson, R.A.46
Hentati, F.47
Dickson, D.W.48
Destee, A.49
Farrer, M.J.50
more..
-
2
-
-
80054787664
-
What genetics tells us about the causes and mechanisms of Parkinson's disease
-
Corti O., Lesage S., Brice A. What genetics tells us about the causes and mechanisms of Parkinson's disease. Physiol. Rev 2011, 91:1161-1218.
-
(2011)
Physiol. Rev
, vol.91
, pp. 1161-1218
-
-
Corti, O.1
Lesage, S.2
Brice, A.3
-
3
-
-
33750725402
-
Digenic parkinsonism: investigation of the synergistic effects of PRKN and LRRK2
-
Dächsel J.C., Mata I.F., Ross O.A., Taylor J.P., Lincoln S.J., Hinkle K.M., Huerta C., Ribacoba R., Blazquez M., Alvarez V., Farrer M.J. Digenic parkinsonism: investigation of the synergistic effects of PRKN and LRRK2. Neurosci. Lett 2006, 410:80-84.
-
(2006)
Neurosci. Lett
, vol.410
, pp. 80-84
-
-
Dächsel, J.C.1
Mata, I.F.2
Ross, O.A.3
Taylor, J.P.4
Lincoln, S.J.5
Hinkle, K.M.6
Huerta, C.7
Ribacoba, R.8
Blazquez, M.9
Alvarez, V.10
Farrer, M.J.11
-
4
-
-
0026514953
-
Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases
-
Hughes A.J., Daniel S.E., Kilford L., Lees A.J. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J. Neurol. Neurosurg. Psychiatry 1992, 55:181-184.
-
(1992)
J. Neurol. Neurosurg. Psychiatry
, vol.55
, pp. 181-184
-
-
Hughes, A.J.1
Daniel, S.E.2
Kilford, L.3
Lees, A.J.4
-
5
-
-
67650501546
-
Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson's disease
-
French Parkinson's Disease Genetics Study Group
-
Lesage S., Condroyer C., Lannuzel A., Lohmann E., Troiano A., Tison F., Damier P., Thobois S., Ouvrard-Hernandez A.M., Rivaud-Péchoux S., Brefel-Courbon C., Destée A., Tranchant C., Romana M., Leclere L., Dürr A., Brice A. Molecular analyses of the LRRK2 gene in European and North African autosomal dominant Parkinson's disease. J. Med. Genet 2009, 46:458-464. French Parkinson's Disease Genetics Study Group.
-
(2009)
J. Med. Genet
, vol.46
, pp. 458-464
-
-
Lesage, S.1
Condroyer, C.2
Lannuzel, A.3
Lohmann, E.4
Troiano, A.5
Tison, F.6
Damier, P.7
Thobois, S.8
Ouvrard-Hernandez, A.M.9
Rivaud-Péchoux, S.10
Brefel-Courbon, C.11
Destée, A.12
Tranchant, C.13
Romana, M.14
Leclere, L.15
Dürr, A.16
Brice, A.17
-
6
-
-
80052967403
-
Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study
-
Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium
-
Ross O.A., Soto-Ortolaza A.I., Heckman M.G., Aasly J.O., Abahuni N., Annesi G., Bacon J.A., Bardien S., Bozi M., Brice A., Brighina L., Van Broeckhoven C., Carr J., Chartier-Harlin M.C., Dardiotis E., Dickson D.W., Diehl N.N., Elbaz A., Ferrarese C., Ferraris A., Fiske B., Gibson J.M., Gibson R., Hadjigeorgiou G.M., Hattori N., Ioannidis J.P., Jasinska-Myga B., Jeon B.S., Kim Y.J., Klein C., Kruger R., Kyratzi E., Lesage S., Lin C.H., Lynch T., Maraganore D.M., Mellick G.D., Mutez E., Nilsson C., Opala G., Park S.S., Puschmann A., Quattrone A., Sharma M., Silburn P.A., Sohn Y.H., Stefanis L., Tadic V., Theuns J., Tomiyama H., Uitti R.J., Valente E.M., van de Loo S., Vassilatis D.K., Vilarino-Guell C., White L.R., Wirdefeldt K., Wszolek Z.K., Wu R.M., Farrer M.J. Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol 2011, 10:898-908. Genetic Epidemiology Of Parkinson's Disease (GEO-PD) Consortium.
-
(2011)
Lancet Neurol
, vol.10
, pp. 898-908
-
-
Ross, O.A.1
Soto-Ortolaza, A.I.2
Heckman, M.G.3
Aasly, J.O.4
Abahuni, N.5
Annesi, G.6
Bacon, J.A.7
Bardien, S.8
Bozi, M.9
Brice, A.10
Brighina, L.11
Van Broeckhoven, C.12
Carr, J.13
Chartier-Harlin, M.C.14
Dardiotis, E.15
Dickson, D.W.16
Diehl, N.N.17
Elbaz, A.18
Ferrarese, C.19
Ferraris, A.20
Fiske, B.21
Gibson, J.M.22
Gibson, R.23
Hadjigeorgiou, G.M.24
Hattori, N.25
Ioannidis, J.P.26
Jasinska-Myga, B.27
Jeon, B.S.28
Kim, Y.J.29
Klein, C.30
Kruger, R.31
Kyratzi, E.32
Lesage, S.33
Lin, C.H.34
Lynch, T.35
Maraganore, D.M.36
Mellick, G.D.37
Mutez, E.38
Nilsson, C.39
Opala, G.40
Park, S.S.41
Puschmann, A.42
Quattrone, A.43
Sharma, M.44
Silburn, P.A.45
Sohn, Y.H.46
Stefanis, L.47
Tadic, V.48
Theuns, J.49
Tomiyama, H.50
Uitti, R.J.51
Valente, E.M.52
van de Loo, S.53
Vassilatis, D.K.54
Vilarino-Guell, C.55
White, L.R.56
Wirdefeldt, K.57
Wszolek, Z.K.58
Wu, R.M.59
Farrer, M.J.60
more..
-
7
-
-
80051488602
-
VPS35 mutations in Parkinson disease
-
Vilariño-Güell C., Wider C., Ross O.A., Dachsel J.C., Kachergus J.M., Lincoln S.J., Soto-Ortolaza A.I., Cobb S.A., Wilhoite G.J., Bacon J.A., Behrouz B., Melrose H.L., Hentati E., Puschmann A., Evans D.M., Conibear E., Wasserman W.W., Aasly J.O., Burkhard P.R., Djaldetti R., Ghika J., Hentati F., Krygowska-Wajs A., Lynch T., Melamed E., Rajput A., Rajput A.H., Solida A., Wu R.M., Uitti R.J., Wszolek Z.K., Vingerhoets F., Farrer M.J. VPS35 mutations in Parkinson disease. Am. J. Hum. Genet 2011, 89:162-167.
-
(2011)
Am. J. Hum. Genet
, vol.89
, pp. 162-167
-
-
Vilariño-Güell, C.1
Wider, C.2
Ross, O.A.3
Dachsel, J.C.4
Kachergus, J.M.5
Lincoln, S.J.6
Soto-Ortolaza, A.I.7
Cobb, S.A.8
Wilhoite, G.J.9
Bacon, J.A.10
Behrouz, B.11
Melrose, H.L.12
Hentati, E.13
Puschmann, A.14
Evans, D.M.15
Conibear, E.16
Wasserman, W.W.17
Aasly, J.O.18
Burkhard, P.R.19
Djaldetti, R.20
Ghika, J.21
Hentati, F.22
Krygowska-Wajs, A.23
Lynch, T.24
Melamed, E.25
Rajput, A.26
Rajput, A.H.27
Solida, A.28
Wu, R.M.29
Uitti, R.J.30
Wszolek, Z.K.31
Vingerhoets, F.32
Farrer, M.J.33
more..
-
8
-
-
80051534540
-
A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease
-
Zimprich A., Benet-Pagès A., Struhal W., Graf E., Eck S.H., Offman M.N., Haubenberger D., Spielberger S., Schulte E.C., Lichtner P., Rossle S.C., Klopp N., Wolf E., Seppi K., Pirker W., Presslauer S., Mollenhauer B., Katzenschlager R., Foki T., Hotzy C., Reinthaler E., Harutyunyan A., Kralovics R., Peters A., Zimprich F., Brücke T., Poewe W., Auff E., Trenkwalder C., Rost B., Ransmayr G., Winkelmann J., Meitinger T., Strom T.M. A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am. J. Hum. Genet 2011, 89:168-175.
-
(2011)
Am. J. Hum. Genet
, vol.89
, pp. 168-175
-
-
Zimprich, A.1
Benet-Pagès, A.2
Struhal, W.3
Graf, E.4
Eck, S.H.5
Offman, M.N.6
Haubenberger, D.7
Spielberger, S.8
Schulte, E.C.9
Lichtner, P.10
Rossle, S.C.11
Klopp, N.12
Wolf, E.13
Seppi, K.14
Pirker, W.15
Presslauer, S.16
Mollenhauer, B.17
Katzenschlager, R.18
Foki, T.19
Hotzy, C.20
Reinthaler, E.21
Harutyunyan, A.22
Kralovics, R.23
Peters, A.24
Zimprich, F.25
Brücke, T.26
Poewe, W.27
Auff, E.28
Trenkwalder, C.29
Rost, B.30
Ransmayr, G.31
Winkelmann, J.32
Meitinger, T.33
Strom, T.M.34
more..
|