Publication Information

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1716, 1837], 'being': [56, 224], 'pathogenic.': [57], '<h3>Design/Methods:</h3>': [58], 'PD': [59, 80], 'pathogenic': [63, 70], 'no': [69, 179], 'other': [73], 'genes': [74], 'known': [75], 'to': [76, 260, 322, 328, 334, 340, 346, 352, 620, 626, 632, 752, 759, 906, 1016, 1022, 1028, 1035, 1122, 1128, 1162, 1168, 1217, 1224, 1230, 1236, 1581, 1601, 1623, 1700, 1853, 1859], 'result': [77], 'monogenic': [79], 'were': [81, 101, 132, 292], 'included.': [82], 'Phenotypic': [83], 'characteristics': [84], 'this': [86, 198], 'population': [87], 'including': [88], 'onset,': [91], 'severity,': [93, 122], 'cognition,': [94], 'levodopa': [96], 'equivalent': [97], 'daily': [98], 'dose': [99], '(LEDD)': [100], 'assessed': [102], 'longitudinally.': [103], 'The': [104, 189, 210, 232, 303, 489, 500, 519, 530, 542, 561, 572, 587, 602, 726, 1105, 1130, 1144, 1365, 1379, 1397, 1480, 1492, 1506, 1519, 1531, 1543, 1555, 1679, 1723, 1737, 1750, 1764, 1778, 1789, 1800, 1811], 'was': [110, 161, 178, 193, 214, 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'years),': [142, 258], '(18': [145], '11.6': [147], 'years)].': [148], 'Mean': [149], 'UPDRS': [150], 'part': [151], 'III': [152], '(on)': [153], 'score': [154], 'time': [157, 287], '13.3': [162], '1.6': [164], 'increased': [166, 199], 'by': [167, 200], '3.9': [168], '0.7': [170], 'points': [171], 'every': [172, 205], '10': [173, 206], 'years': [174, 207], '(n=274,': [175], 'p=9.4e-07).': [176], 'There': [177], 'deterioration': [180], 'cognition': [182, 277], 'increase': [185, 282], 'duration.': [188], 'average': [190], 'initial': [191], 'LEDD': [192], '330': [194], '53mg,': [196], '105': [201], '2.6': [203], 'mg': [204], '(n=129,': [208], 'p=0.0001).': [209], 'structural': [215, 264], 'variants': [216, 249, 265, 291], '(366': [217], 'cases,': [218, 230, 243], '71%),': [219], 'exon': [221], '3': [222], 'deletion': [223], 'frequent': [227], 'overall': [228], '(103': [229], '20%).': [231], 'Ubiquitin-like': [233], 'domain': [234, 241], 'frequently': [238], 'affected': [239], 'protein': [240], '(183': [242], '35%).': [244], 'Patients': [245], '2': [247, 263], 'missense': [248], 'had': [250], 'later': [252], '(37±': [256], '12.1': [257], 'compared': [259], 'those': [261], '(31±10.8': [266], 'years)': [267], '(p=0.004).': [268], '<h3>Conclusions:</h3>': [269], 'We': [270], 'confirm': [271], 'slow': [273], 'progression,': [275], 'preserved': [276], 'demonstrate': [279], 'limited': [281], 'dopaminergic': [284], 'medications': [285], 'PRKN-PD.': [289], 'Missense': [290], 'associated': [293], 'more': [296], 'benign': [297], 'progression': [298], 'disease.': [301], '<b>Disclosure:</b>': [302], 'institution': [304, 490, 501, 520, 531, 543, 562, 573, 588, 603, 727, 1106, 1131, 1145, 1366, 1380, 1398, 1481, 1493, 1507, 1520, 1532, 1544, 1556, 1680, 1724, 1738, 1751, 1765, 1779, 1790, 1801, 1812], 'Dr.': [306, 318, 342, 354, 372, 390, 408, 432, 451, 470, 492, 503, 511, 522, 533, 545, 553, 564, 575, 590, 605, 616, 622, 761, 779, 797, 815, 834, 852, 877, 1024, 1037, 1055, 1079, 1108, 1118, 1133, 1147, 1158, 1220, 1226, 1232, 1415, 1433, 1457, 1483, 1495, 1509, 1522, 1534, 1546, 1558, 1568, 1584, 1606, 1628, 1649, 1682, 1690, 1824, 1849], 'Jayadev': [307], 'Menon': [308], 'has': [309, 320, 326, 332, 338, 344, 350, 356, 374, 392, 410, 434, 453, 472, 494, 505, 513, 524, 535, 547, 555, 566, 577, 592, 607, 618, 624, 630, 636, 654, 677, 702, 731, 741, 757, 763, 781, 799, 817, 836, 854, 879, 904, 912, 938, 964, 990, 1014, 1020, 1026, 1033, 1039, 1057, 1081, 1110, 1120, 1126, 1135, 1149, 1160, 1166, 1172, 1179, 1187, 1195, 1206, 1222, 1228, 1234, 1240, 1254, 1279, 1304, 1328, 1347, 1370, 1384, 1402, 1417, 1435, 1459, 1485, 1497, 1511, 1524, 1536, 1548, 1560, 1570, 1586, 1608, 1630, 1651, 1684, 1692, 1705, 1728, 1742, 1755, 1769, 1783, 1794, 1805, 1816, 1826, 1851, 1857], 'received': [310, 357, 375, 393, 411, 435, 454, 473, 495, 506, 514, 525, 536, 548, 556, 567, 578, 593, 608, 637, 655, 678, 703, 732, 742, 764, 782, 800, 818, 837, 855, 880, 913, 939, 965, 991, 1040, 1058, 1082, 1111, 1136, 1150, 1180, 1188, 1196, 1207, 1241, 1255, 1280, 1305, 1329, 1348, 1371, 1385, 1403, 1418, 1436, 1460, 1486, 1498, 1512, 1525, 1537, 1549, 1561, 1571, 1631, 1652, 1685, 1693, 1706, 1729, 1743, 1756, 1770, 1784, 1795, 1806, 1817, 1827], 'research': [311, 496, 507, 515, 526, 537, 549, 557, 568, 579, 594, 609, 614, 733, 1112, 1137, 1151, 1181, 1189, 1197, 1372, 1386, 1404, 1487, 1499, 1513, 1526, 1538, 1550, 1562, 1686, 1730, 1744, 1757, 1771, 1785, 1796, 1807, 1818], 'support': [312, 497, 508, 516, 527, 538, 550, 558, 569, 580, 595, 610, 734, 1113, 1138, 1152, 1182, 1190, 1198, 1373, 1387, 1405, 1488, 1500, 1514, 1527, 1539, 1551, 1563, 1687, 1731, 1745, 1758, 1772, 1786, 1797, 1808, 1819], 'from': [313, 498, 509, 517, 528, 539, 551, 559, 570, 581, 596, 611, 735, 746, 1114, 1139, 1153, 1183, 1191, 1199, 1211, 1374, 1388, 1406, 1489, 1501, 1515, 1528, 1540, 1552, 1564, 1575, 1688, 1696, 1732, 1746, 1759, 1773, 1787, 1798, 1809, 1820], 'Michael': [314, 1502, 1733], 'J': [315, 1503, 1734], 'Fox': [316, 1504, 1735], 'Foundation.': [317, 1554, 1736], 'Sambin': [319], 'nothing': [321, 327, 333, 339, 345, 351, 619, 625, 631, 758, 905, 1015, 1021, 1027, 1034, 1121, 1127, 1161, 1167, 1223, 1229, 1235, 1852, 1858], 'disclose.': [323, 329, 335, 341, 347, 353, 621, 627, 633, 760, 907, 1017, 1023, 1029, 1036, 1123, 1129, 1163, 1169, 1225, 1231, 1237, 1854, 1860], 'Mr.': [324, 330, 902, 1018], 'CRINIERE-BOIZET': [325], 'Courtin': [331], 'Mrs.': [336, 348], 'Casse': [337], 'Tesson': [343], 'Ferrien': [349], 'Roze': [355, 373, 391, 409, 433, 452, 471, 493, 504, 512, 523, 534, 546, 554, 565, 576, 591, 606], 'personal': [358, 376, 394, 412, 436, 455, 474, 638, 656, 679, 704, 765, 783, 801, 819, 838, 856, 881, 914, 940, 966, 992, 1041, 1059, 1083, 1242, 1256, 1281, 1306, 1330, 1349, 1419, 1437, 1461, 1632, 1653, 1707, 1828], 'compensation': [359, 377, 395, 413, 437, 456, 475, 639, 657, 680, 705, 766, 784, 802, 820, 839, 857, 882, 915, 941, 967, 993, 1042, 1060, 1084, 1243, 1257, 1282, 1307, 1331, 1350, 1420, 1438, 1462, 1633, 1654, 1708, 1829], 'range': [362, 380, 398, 416, 440, 459, 478, 642, 660, 683, 708, 769, 787, 805, 823, 842, 860, 885, 918, 944, 970, 996, 1045, 1063, 1087, 1260, 1285, 1310, 1334, 1353, 1423, 1441, 1465, 1636, 1657, 1711, 1832], '$5,000-$9,999': [364, 400, 461, 1336], 'serving': [366, 384, 402, 420, 444, 463, 482, 646, 664, 687, 712, 773, 791, 809, 827, 846, 864, 889, 922, 948, 974, 1000, 1049, 1067, 1091, 1245, 1264, 1289, 1314, 1338, 1357, 1427, 1445, 1469, 1640, 1661, 1715, 1836], 'Consultant': [369, 387, 405, 649, 667, 776, 794, 812, 830, 849, 1052, 1430, 1643, 1718], 'merz.': [371, 499], '$500-$4,999': [382, 418, 442, 480, 644, 771, 789, 825, 844, 862, 920, 946, 972, 998, 1047, 1065, 1262, 1287, 1312, 1355, 1425, 1443], 'orkyn.': [389], 'elivie.': [407, 469, 518], 'on': [421, 445, 464, 483, 688, 865, 890, 923, 949, 975, 1001, 1068, 1265, 1290, 1315, 1339, 1358, 1446], 'Scientific': [423, 690, 867, 892, 925, 951, 977, 1003, 1070, 1267, 1292, 1317, 1448, 1592, 1614], 'Advisory': [424, 691, 720, 868, 893, 926, 952, 978, 1004, 1071, 1099, 1268, 1293, 1318, 1449, 1593, 1615, 1669], 'or': [425, 692, 718, 749, 869, 894, 927, 953, 979, 1005, 1072, 1097, 1214, 1269, 1294, 1319, 1450, 1578, 1604, 1626, 1667, 1840], 'Data': [426, 693, 870, 895, 928, 954, 980, 1006, 1073, 1270, 1295, 1320, 1451], 'Safety': [427, 694, 871, 896, 929, 955, 981, 1007, 1074, 1271, 1296, 1321, 1452], 'Monitoring': [428, 695, 872, 897, 930, 956, 982, 1008, 1075, 1272, 1297, 1322, 1453], 'board': [429, 696, 873, 898, 931, 957, 983, 1009, 1076, 1273, 1298, 1323, 1454], 'allergan.': [431, 529], 'Speakers': [447, 466, 485, 1341, 1360], 'Bureau': [448, 467, 486, 1342, 1361], 'Orkyn.': [450, 510], 'Aguettant.': [488], 'fondation': [540], 'desmarest.': [541], 'everpharma.': [552], 'AMADYS.': [560], 'ADCY5.org.': [571], 'agence': [582], 'nationale': [583], 'de': [584, 599, 1822], 'la': [585], 'recherche.': [586], 'société': [597], 'française': [598], 'médecine': [600], 'esthétique.': [601], 'dystonia': [612], 'medical': [613], 'foundation.': [615], 'LEJEUNE': [617], 'Lanore': [623], 'Graziella': [628], 'Mangone': [629], 'Louise-Laure': [634, 652, 675, 700, 729, 739], 'Mariani': [635, 653, 676, 701, 730, 740], 'Biophytis.': [651], '$0-$499': [662, 710, 807, 1713], 'Mere.': [669], 'An': [670], 'immediate': [671], 'family': [672], 'member': [673, 1841], '$10,000-$49,999': [685, 887, 1089, 1638, 1659], 'Biophytis': [698], '.': [699, 1104], 'Editor,': [715, 717, 1094, 1096, 1664, 1666], 'Associate': [716, 1095, 1665], 'Editorial': [719, 1098, 1668], 'Board': [721, 1100, 1594, 1616, 1670, 1844], 'Member': [722, 1101, 1671], 'John': [724], 'Libbey.': [725], 'France': [736], 'Association.': [738, 1530], 'intellectual': [743, 1208, 1572], 'property': [744, 1209, 1573], 'interests': [745, 1210, 1574, 1603, 1625], 'discovery': [748, 1213, 1577], 'technology': [750, 1215, 1579], 'relating': [751, 1216, 1580, 1699], 'health': [753, 1218, 1582, 1701], 'care.': [754, 1219, 1583, 1702], 'Jan': [755], 'Aasly': [756], 'Gan-Or': [762, 780, 798, 816, 835, 853, 878], 'Neuron23.': [778], 'Idorsia.': [796], 'Lighthouse.': [814], 'Ono': [832], 'Therapeutics.': [833, 876, 1301, 1648], 'UCB.': [851], 'Handl': [875], 'Bial': [900], 'Biotech.': [901], 'Yu': [903], 'Yves': [908, 934, 960, 986], 'Dauvilliers,': [909, 935, 961, 987], 'MD,': [910, 936, 962, 988], 'PhD': [911, 937, 963, 989], 'idorsia.': [933], 'JAZZ.': [959], 'Takeda.': [985], 'Avadel.': [1011], 'Alexander': [1012], 'Zimprich': [1013], 'Alvarez': [1019], 'Pastor': [1025], 'Alessio': [1030], 'Di': [1031], 'Fonzo': [1032], 'Bhatia': [1038, 1056, 1080, 1109], 'Ipsen.': [1054], 'Mitsubishi.': [1078], 'MDS': [1103], 'EU': [1115], 'Horizon': [1116], '2020.': [1117], 'Magrinelli': [1119], 'Henry': [1124], 'Houlden': [1125], 'Real': [1134], 'MJFF/ASAP': [1140], '(Grant': [1141], 'number': [1142], 'ASAP-000478).': [1143], 'Narendra': [1148], 'National': [1154], 'Institutes': [1155], 'Health.': [1157], 'Lin': [1159], 'Ms.': [1164], 'Jovanovic': [1165], 'Prof.': [1170, 1177, 1185, 1193, 1204], 'Koks': [1171, 1178, 1186, 1194, 1205], 'stock': [1173], 'Prion': [1175], 'OÜ.': [1176], 'MSWA.': [1184], 'MJFF.': [1192], 'Sock': [1200], 'It': [1201], 'Sarcoma.': [1203], 'Lynch': [1221], 'Gallagher': [1227], 'Vandenberghe': [1233], 'Thomas': [1238, 1252, 1277, 1302, 1326, 1345, 1368, 1382, 1400], 'Gasser': [1239, 1253, 1278, 1303, 1327, 1346, 1369, 1383, 1401], 'employee': [1248], 'Universitätsklinikum': [1250], 'Tübingen.': [1251], 'Bayer': [1275], 'AG.': [1276], 'BlueRock': [1300], 'Biogen.': [1325, 1456], 'MedUpdate.': [1344], 'UCB': [1363], 'Pharma.': [1364], 'German': [1375, 1389, 1747], 'Research': [1376, 1395, 1410, 1566, 1748], 'Foundation': [1377], '(DFG).': [1378], 'Federal': [1390], 'Ministry': [1391, 1407], 'Education': [1393], '(BMBF).': [1396], 'Science,': [1409], 'Art': [1412], 'Baden-Württemberg': [1413], '(MWK).': [1414], 'Morris': [1416, 1434, 1458, 1484, 1496, 1510, 1523, 1535, 1547, 1559, 1569, 1585, 1607], 'Roche.': [1432], '$50,000-$99,999': [1467], 'Expert': [1472], 'Witness': [1473], 'Personal': [1475], 'injury': [1476], '/': [1477], 'Negligence': [1478], 'cases.': [1479], "Parkinson's": [1490, 1517, 1618], 'UK.': [1491], 'Foundartion.': [1505], 'Cure': [1516, 1596], 'Trust.': [1518], 'PSP': [1529, 1597], 'CBD': [1541], 'Solutions.': [1542], 'Drake': [1553], 'Medical': [1565], 'Council.': [1567], 'non-compensated': [1588, 1610], 'relationship': [1589, 1611], 'that': [1598, 1620], 'relevant': [1600, 1622], 'AAN': [1602, 1624], 'activities.': [1605, 1627], 'UK': [1619], 'Klein': [1629, 1650, 1683, 1691], 'Centogene': [1645], 'Retromer': [1647], 'Mov': [1673], 'Disord,': [1674], 'Ann': [1675], 'Neurol,': [1676], 'Science': [1677], 'Adv.': [1678], 'Centogene.': [1689], 'publishing': [1694], 'royalties': [1695], 'publication': [1698], 'Kathrin': [1703, 1726, 1740, 1753, 1767], 'Brockmann': [1704, 1727, 1741, 1754, 1768], 'Hoffmann-La': [1720], 'Roche': [1721], 'LTD.': [1722], 'Society.': [1749], 'Health': [1760], 'Forum': [1761], 'Baden': [1762], 'Wuerttemberg.': [1763], 'Else': [1774], 'Kröner': [1775], 'Fresenius': [1776], 'Stiftung.': [1777], 'Olga': [1781, 1792, 1803, 1814], 'Corti': [1782, 1793, 1804, 1815], 'ANR.': [1788], 'EU.': [1799], 'Sanofi.': [1810], 'Fondation': [1821], 'France.': [1823], 'Brice': [1825], '$100,000-$499,999': [1834], 'officer': [1839], 'Directors': [1846], 'ICM.': [1848], 'Lesage': [1850], 'Jean-Christophe': [1855], 'Corvol': [1856]}, 'cited_by_api_url': 'https://api.openalex.org/works?filter=cites:W4367305209', 'counts_by_year': [{'year': 2023, 'cited_by_count': 2}], 'updated_date': '2024-12-29T10:13:06.214333', 'created_date': '2023-04-29'}