-
1
-
-
84887956934
-
Genetics of Parkinson's disease-state of the art, 2013
-
Bonifati V. Genetics of Parkinson's disease-state of the art, 2013. Park Relat Disord 2014, 20(Suppl.1):S23-S28.
-
(2014)
Park Relat Disord
, vol.20
, Issue.SUPPL.1
, pp. S23-S28
-
-
Bonifati, V.1
-
2
-
-
0042415580
-
How much phenotypic variation can be attributed to parkin genotype?
-
Lohmann E., Periquet M., Bonifati V., Wood N.W., De Michele G., Bonnet A.M., et al. How much phenotypic variation can be attributed to parkin genotype?. Ann Neurol 2003, 54:176-185.
-
(2003)
Ann Neurol
, vol.54
, pp. 176-185
-
-
Lohmann, E.1
Periquet, M.2
Bonifati, V.3
Wood, N.W.4
De Michele, G.5
Bonnet, A.M.6
-
3
-
-
33846833930
-
Heterozygous parkin point mutations are as common in control subjects as in Parkinson's patients
-
Kay D.M., Moran D., Moses L., Poorkaj P., Zabetian C.P., Nutt J., et al. Heterozygous parkin point mutations are as common in control subjects as in Parkinson's patients. Ann Neurol 2007, 61:47-54.
-
(2007)
Ann Neurol
, vol.61
, pp. 47-54
-
-
Kay, D.M.1
Moran, D.2
Moses, L.3
Poorkaj, P.4
Zabetian, C.P.5
Nutt, J.6
-
4
-
-
24644462201
-
Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers
-
Pramstaller P.P., Schlossmacher M.G., Jacques T.S., Scaravilli F., Eskelson C., Pepivani I., et al. Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers. Ann Neurol 2005, 58:411-422.
-
(2005)
Ann Neurol
, vol.58
, pp. 411-422
-
-
Pramstaller, P.P.1
Schlossmacher, M.G.2
Jacques, T.S.3
Scaravilli, F.4
Eskelson, C.5
Pepivani, I.6
-
5
-
-
84875495333
-
Lewy body pathology in a patient with a homozygous parkin deletion
-
Miyakawa S., Ogino M., Funabe S., Uchino A., Shimo Y., Hattori N., et al. Lewy body pathology in a patient with a homozygous parkin deletion. Mov Disord 2013, 28:388-391.
-
(2013)
Mov Disord
, vol.28
, pp. 388-391
-
-
Miyakawa, S.1
Ogino, M.2
Funabe, S.3
Uchino, A.4
Shimo, Y.5
Hattori, N.6
-
6
-
-
84865864065
-
The genetics and neuropathology of Parkinson's disease
-
Houlden H., Singleton A.B. The genetics and neuropathology of Parkinson's disease. Acta Neuropathol 2012, 124:325-338.
-
(2012)
Acta Neuropathol
, vol.124
, pp. 325-338
-
-
Houlden, H.1
Singleton, A.B.2
-
7
-
-
0034848395
-
Lewy bodies and parkinsonism in families with parkin mutations
-
Farrer M., Chan P., Chen R., Tan L., Lincoln S., Hernandez D., et al. Lewy bodies and parkinsonism in families with parkin mutations. Ann Neurol 2001, 50:293-300.
-
(2001)
Ann Neurol
, vol.50
, pp. 293-300
-
-
Farrer, M.1
Chan, P.2
Chen, R.3
Tan, L.4
Lincoln, S.5
Hernandez, D.6
-
8
-
-
0038662544
-
Parkin disease: a phenotypic study of a large case series
-
Khan N.L., Graham E., Critchley P., Schrag A.E., Wood N.W., Lees A.J., et al. Parkin disease: a phenotypic study of a large case series. Brain 2003, 126:1279-1292.
-
(2003)
Brain
, vol.126
, pp. 1279-1292
-
-
Khan, N.L.1
Graham, E.2
Critchley, P.3
Schrag, A.E.4
Wood, N.W.5
Lees, A.J.6
-
9
-
-
0033849550
-
Autosomal recessive early-onset parkinsonism with diurnal fluctuation: clinicopathologic characteristics and molecular genetic identification
-
Yamamura Y., Hattori N., Matsumine H., Kuzuhara S., Mizuno Y. Autosomal recessive early-onset parkinsonism with diurnal fluctuation: clinicopathologic characteristics and molecular genetic identification. Brain Dev 2000, 22(Suppl.1):S87-S91.
-
(2000)
Brain Dev
, vol.22
, Issue.SUPPL.1
, pp. S87-S91
-
-
Yamamura, Y.1
Hattori, N.2
Matsumine, H.3
Kuzuhara, S.4
Mizuno, Y.5
-
10
-
-
84877784984
-
Lessons for Parkinson disease from the parkin genotype
-
Ahlskog J.E. Lessons for Parkinson disease from the parkin genotype. JAMA Neurol 2013, 70:551-552.
-
(2013)
JAMA Neurol
, vol.70
, pp. 551-552
-
-
Ahlskog, J.E.1
-
11
-
-
84877727171
-
Parkin disease: a clinicopathologic entity?
-
Doherty K.M., Silveira-Moriyama L., Parkkinen L., Healy D.G., Farrell M., Mencacci N.E., et al. Parkin disease: a clinicopathologic entity?. JAMA Neurol 2013, 70:571-579.
-
(2013)
JAMA Neurol
, vol.70
, pp. 571-579
-
-
Doherty, K.M.1
Silveira-Moriyama, L.2
Parkkinen, L.3
Healy, D.G.4
Farrell, M.5
Mencacci, N.E.6
-
12
-
-
27844538840
-
Preserved cardiac sympathetic nerve accounts for normal cardiac uptake of MIBG in PARK2
-
Orimo S., Amino T., Yokochi M., Kojo T., Uchihara T., Takahashi A., et al. Preserved cardiac sympathetic nerve accounts for normal cardiac uptake of MIBG in PARK2. Mov Disord 2005, 20:1350-1353.
-
(2005)
Mov Disord
, vol.20
, pp. 1350-1353
-
-
Orimo, S.1
Amino, T.2
Yokochi, M.3
Kojo, T.4
Uchihara, T.5
Takahashi, A.6
-
13
-
-
20844446984
-
Preserved myocardial [123I]metaiodobenzylguanidine uptake in autosomal recessive juvenile parkinsonism: first case report
-
Suzuki M., Hattori N., Orimo S., Fukumitsu N., Abo M., Kono Y., et al. Preserved myocardial [123I]metaiodobenzylguanidine uptake in autosomal recessive juvenile parkinsonism: first case report. Mov Disord 2005, 20:634-636.
-
(2005)
Mov Disord
, vol.20
, pp. 634-636
-
-
Suzuki, M.1
Hattori, N.2
Orimo, S.3
Fukumitsu, N.4
Abo, M.5
Kono, Y.6
-
14
-
-
0037087097
-
Characterization of parkin in bovine peripheral nerve
-
Hase A., Yamada H., Arai K., Sunada Y., Shimizu T., Matsumura K. Characterization of parkin in bovine peripheral nerve. Brain Res 2002, 930:143-149.
-
(2002)
Brain Res
, vol.930
, pp. 143-149
-
-
Hase, A.1
Yamada, H.2
Arai, K.3
Sunada, Y.4
Shimizu, T.5
Matsumura, K.6
-
15
-
-
4444276360
-
Does parkin play a role in the peripheral nervous system? A family report
-
Abbruzzese G., Pigullo S., Schenone A., Bellone E., Marchese R., Di Maria E., et al. Does parkin play a role in the peripheral nervous system? A family report. Mov Disord 2004, 19:978-981.
-
(2004)
Mov Disord
, vol.19
, pp. 978-981
-
-
Abbruzzese, G.1
Pigullo, S.2
Schenone, A.3
Bellone, E.4
Marchese, R.5
Di Maria, E.6
-
16
-
-
8844248645
-
Assessment of autonomic dysfunction in Parkinson's disease: the SCOPA-AUT
-
Visser M., Marinus J., Stiggelbout A.M., Van Hilten J.J. Assessment of autonomic dysfunction in Parkinson's disease: the SCOPA-AUT. Mov Disord 2004, 19:1306-1312.
-
(2004)
Mov Disord
, vol.19
, pp. 1306-1312
-
-
Visser, M.1
Marinus, J.2
Stiggelbout, A.M.3
Van Hilten, J.J.4
-
17
-
-
0019390833
-
Cardiac autonomic neuropathy in diabetes: comparison of measures of R-R interval variation
-
Ewing D.J., Borsey D.Q., Bellavere F., Clarke B.F. Cardiac autonomic neuropathy in diabetes: comparison of measures of R-R interval variation. Diabetologia 1981, 21:18-24.
-
(1981)
Diabetologia
, vol.21
, pp. 18-24
-
-
Ewing, D.J.1
Borsey, D.Q.2
Bellavere, F.3
Clarke, B.F.4
-
18
-
-
84871481206
-
Cardiac sympathetic denervation in symptomatic and asymptomatic carriers of the E46K mutation in the alpha synuclein gene
-
Tijero B., Gomez-Esteban J.C., Lezcano E., Fernandez-Gonzalez C., Somme J., Llorens V., et al. Cardiac sympathetic denervation in symptomatic and asymptomatic carriers of the E46K mutation in the alpha synuclein gene. Park Relat Disord 2013, 19:95-100.
-
(2013)
Park Relat Disord
, vol.19
, pp. 95-100
-
-
Tijero, B.1
Gomez-Esteban, J.C.2
Lezcano, E.3
Fernandez-Gonzalez, C.4
Somme, J.5
Llorens, V.6
-
19
-
-
0342368772
-
Association between early-onset Parkinson's disease and mutations in the parkin gene
-
Lucking C.B., Durr A., Bonifati V., Vaughan J., De Michele G., Gasser T., et al. Association between early-onset Parkinson's disease and mutations in the parkin gene. NEngl J Med 2000, 342:1560-1567.
-
(2000)
NEngl J Med
, vol.342
, pp. 1560-1567
-
-
Lucking, C.B.1
Durr, A.2
Bonifati, V.3
Vaughan, J.4
De Michele, G.5
Gasser, T.6
-
20
-
-
84875277277
-
Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutations
-
Puschmann A. Monogenic Parkinson's disease and parkinsonism: clinical phenotypes and frequencies of known mutations. Park Relat Disord 2013, 19:407-415.
-
(2013)
Park Relat Disord
, vol.19
, pp. 407-415
-
-
Puschmann, A.1
-
21
-
-
34247184644
-
Normal cardiovascular reflex testing in patients with parkin disease
-
Del Sorbo F., Elia A.E., De Joanna G., Romito L.M., Garavaglia B., Albanese A. Normal cardiovascular reflex testing in patients with parkin disease. Mov Disord 2007, 22(4):528-532.
-
(2007)
Mov Disord
, vol.22
, Issue.4
, pp. 528-532
-
-
Del Sorbo, F.1
Elia, A.E.2
De Joanna, G.3
Romito, L.M.4
Garavaglia, B.5
Albanese, A.6
-
22
-
-
84883266192
-
Autonomic dysfunction in parkinsonian LRRK2 mutation carriers
-
Tijero B., Gomez Esteban J.C., Somme J., Llorens V., Lezcano E., Martinez A., et al. Autonomic dysfunction in parkinsonian LRRK2 mutation carriers. Park Relat Disord 2013, 19:906-909.
-
(2013)
Park Relat Disord
, vol.19
, pp. 906-909
-
-
Tijero, B.1
Gomez Esteban, J.C.2
Somme, J.3
Llorens, V.4
Lezcano, E.5
Martinez, A.6
-
23
-
-
77957730253
-
Cardiac sympathetic denervation precedes nigrostriatal loss in the E46K mutation of the alpha-synuclein gene (SNCA)
-
Tijero B., Gomez-Esteban J.C., Llorens V., Lezcano E., Gonzalez-Fernandez M.C., de Pancorbo M.M., et al. Cardiac sympathetic denervation precedes nigrostriatal loss in the E46K mutation of the alpha-synuclein gene (SNCA). Clin Auton Res 2010, 20:267-269.
-
(2010)
Clin Auton Res
, vol.20
, pp. 267-269
-
-
Tijero, B.1
Gomez-Esteban, J.C.2
Llorens, V.3
Lezcano, E.4
Gonzalez-Fernandez, M.C.5
de Pancorbo, M.M.6
-
24
-
-
0038699003
-
Autosomal recessive parkinsonism linked to parkin gene in a Tunisian family. Clinical, genetic and pathological study
-
Gouider-Khouja N., Larnaout A., Amouri R., Sfar S., Belal S., Ben Hamida C., et al. Autosomal recessive parkinsonism linked to parkin gene in a Tunisian family. Clinical, genetic and pathological study. Park Relat Disord 2003, 9:247-251.
-
(2003)
Park Relat Disord
, vol.9
, pp. 247-251
-
-
Gouider-Khouja, N.1
Larnaout, A.2
Amouri, R.3
Sfar, S.4
Belal, S.5
Ben Hamida, C.6
-
25
-
-
70450224253
-
Parkin and PINK1 parkinsonism may represent nigral mitochondrial cytopathies distinct from Lewy body Parkinson's disease
-
Ahlskog J.E. Parkin and PINK1 parkinsonism may represent nigral mitochondrial cytopathies distinct from Lewy body Parkinson's disease. Park Relat Disord 2009, 15:721-727.
-
(2009)
Park Relat Disord
, vol.15
, pp. 721-727
-
-
Ahlskog, J.E.1
-
26
-
-
23244449831
-
Reduced amplitude of the sural nerve sensory action potential in PARK2 patients
-
Ohsawa Y., Kurokawa K., Sonoo M., Yamada H., Hemmi S., Iwatsuki K., et al. Reduced amplitude of the sural nerve sensory action potential in PARK2 patients. Neurology 2005, 65:459-462.
-
(2005)
Neurology
, vol.65
, pp. 459-462
-
-
Ohsawa, Y.1
Kurokawa, K.2
Sonoo, M.3
Yamada, H.4
Hemmi, S.5
Iwatsuki, K.6
-
27
-
-
84884717728
-
Neuropathy and levodopa in Parkinson's disease: evidence from a multicenter study
-
Ceravolo R., Cossu G., Bandettini di Poggio M., Santoro L., Barone P., Zibetti M., et al. Neuropathy and levodopa in Parkinson's disease: evidence from a multicenter study. Mov Disord 2013, 28:1391-1397.
-
(2013)
Mov Disord
, vol.28
, pp. 1391-1397
-
-
Ceravolo, R.1
Cossu, G.2
Bandettini di Poggio, M.3
Santoro, L.4
Barone, P.5
Zibetti, M.6
-
28
-
-
0026323520
-
Plasma endothelin during upright tilt: relevance for orthostatic hypotension?
-
Kaufmann H., Oribe E., Oliver J.A. Plasma endothelin during upright tilt: relevance for orthostatic hypotension?. Lancet 1991, 338:1542-1545.
-
(1991)
Lancet
, vol.338
, pp. 1542-1545
-
-
Kaufmann, H.1
Oribe, E.2
Oliver, J.A.3
-
29
-
-
0022649778
-
Arginine-vasopressin response to supine-erect posture change: an index for evaluation of the integrity of the afferent component of baroregulatory system in diabetic neuropathy
-
Cignarelli M., De Pergola G., Paternostro A., Corso M., Cospite M.R., Centaro G.M., et al. Arginine-vasopressin response to supine-erect posture change: an index for evaluation of the integrity of the afferent component of baroregulatory system in diabetic neuropathy. Diabete Metab 1986, 12:28-33.
-
(1986)
Diabete Metab
, vol.12
, pp. 28-33
-
-
Cignarelli, M.1
De Pergola, G.2
Paternostro, A.3
Corso, M.4
Cospite, M.R.5
Centaro, G.M.6
-
30
-
-
80055074305
-
Unmyelinated axons are more vulnerable to degeneration than myelinated axons of the cardiac nerve in Parkinson's disease
-
Orimo S., Uchihara T., Kanazawa T., Itoh Y., Wakabayashi K., Kakita A., et al. Unmyelinated axons are more vulnerable to degeneration than myelinated axons of the cardiac nerve in Parkinson's disease. Neuropathol Appl Neurobiol 2011, 37:791-802.
-
(2011)
Neuropathol Appl Neurobiol
, vol.37
, pp. 791-802
-
-
Orimo, S.1
Uchihara, T.2
Kanazawa, T.3
Itoh, Y.4
Wakabayashi, K.5
Kakita, A.6
|