Publication Information

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'with': [202, 235, 274, 298, 371, 393, 422, 473, 493, 508, 518, 782, 1052, 1076, 1120, 1129, 1238, 1334, 1382, 1404, 1553, 1860, 2083, 2139, 2171, 2213, 2218, 2621, 3017, 3022], 'infarction.': [204], 'may': [206, 563, 807, 1186, 1473, 1522, 1550], 'because': [208, 1034], 'clarity': [211], 'phenotype,': [214, 977], 'well': [216, 608, 928], 'a': [218, 367, 377, 423, 496, 552, 786, 852, 867, 950, 969, 985, 1004, 1108, 1122, 1225, 1265, 1277, 1323, 1426, 1443, 1449, 1501, 1520, 1595, 1795, 2084, 2190, 2261, 2622, 2731, 2861, 2961], 'defined': [220], 'role': [221], 'some': [225, 439, 561, 579, 713, 799, 989, 1400, 1490], 'stroke.': [229, 943, 1536, 1558, 1625, 1697, 2390, 2471, 2499, 2626, 2828], 'Cerebral': [230], 'infarction': [231, 1457, 2388, 2826, 3175], 'is': [232, 332, 648, 653, 663, 676, 681, 688, 972, 995, 1032, 1437, 1498, 1513, 1568, 1592, 1831, 2048, 2619, 2730], 'quite': [233, 905, 1524], 'heterogeneous,': [234], 'multiple': [236, 470, 1565], 'risk': [237, 1125, 1185, 1193, 1282, 1454, 1484, 1556, 2385, 2467, 2520, 2592, 2624, 2661, 2693, 2732, 3018], 'factors': [238, 1194, 1617], '(hypertension,': [239], 'diabetes,': [240], 'lipid': [241], 'disorders)': [242], 'playing': [243], 'complex': [244, 1531, 1580], 'roles': [245], 'these': [250, 255, 529, 778, 841, 1028, 1144, 1367, 1402, 1630], 'stroke.1': [253], 'Despite': [254], 'challenges,': [256], 'we': [257], 'have': [258, 340, 437, 469, 623, 643, 966, 980, 1002, 1162, 1262, 1276, 1328], 'made': [259], 'infarction.The': [267], 'ascertainment': [268, 352], 'large': [270, 369, 596, 732, 1199, 1406], 'numbers': [271], 'families': [273, 319, 517, 562, 615], 'intracranial': [275, 1778, 1799, 1836, 1856, 1883], '(IA)': [277], 'led': [279], 'linkage': [282, 303, 327, 344, 364, 1739], 'studies': [283, 339, 433, 530, 908, 965, 1001, 1159, 1261, 1291, 1421, 1543, 1691, 2492, 2546], 'prodrome': [286], 'subarachnoid': [288, 491, 505, 1862], 'hemorrhage.': [289, 1863], 'A': [290, 362, 382, 395, 716, 881, 1044, 1198, 2305, 2627, 2812], 'Finnish': [291, 1735], 'study': [292, 317, 365, 384, 446, 480, 828, 882, 1046, 1105, 1396, 1412, 1561, 1599, 2263, 2309], '222': [294], 'affected': [295, 1217], 'relative': [296], 'pairs': [297], 'IAs': [299, 375, 436, 450, 457, 471, 541], 'found': [300, 324, 447, 481, 722, 762, 829, 889, 1054, 1163, 1229, 1263], 'evidence': [301, 325, 482], 'near': [304, 333], 'locus': [305, 329, 378, 1774], 'D19S246.2': [306], 'Several': [307, 964], 'promising': [308], 'candidate': [309], 'genes': [310, 635, 806, 914, 1213, 1232, 1247, 1327, 1549, 1566, 2551, 3015], 'located': [312], 'around': [313], 'locus.': [315], 'Another': [316, 479], 'involving': [318, 2552], 'from': [320, 418, 1310], 'Japan': [321], 'Utah': [323], 'at': [328, 502, 1438, 1594], 'D7S2421,': [330], 'which': [331], 'elastin': [335], 'gene.3': [336], 'Some': [337, 839, 1181], 'previous': [338], 'failed': [341], 'confirm': [343], 'IA': [346, 360, 406, 489, 572], 'elastin.': [348], 'Perhaps': [349, 1414], 'reflects': [351], 'issues': [353], 'indicate': [355, 531, 796], 'heterogeneity': [357], 'trait.': [361], 'using': [366, 603], 'very': [368], 'family': [370, 1179], 'apparent': [372, 522], 'autosomal': [373, 523, 961, 2215], 'dominant': [374, 524, 962, 2216], 'identified': [376, 438], 'chromosome': [380, 1746, 1772], '1p34–36.4': [381], 'investigated': [385], 'collagen': [387, 430], 'α21': [388], 'gene': [389, 727, 1141, 1273, 1388, 1431, 1834, 1951, 1979, 2379, 2462, 2589, 2658, 2729, 2818], 'Japanese': [391], 'patients': [392, 842, 1051, 1083, 1409, 1859, 2138, 3021], 'IAs.': [394], 'association': [397, 1134, 1227, 1237, 1424], 'between': [398, 1135, 1425], 'an': [399, 414, 521, 864, 982, 1423, 1482, 1554, 1571, 2820, 2851, 2895], 'exonic': [400], 'single': [401, 410, 1110], 'nucleotide': [402, 411, 1111, 2612], 'polymorphism': [403, 412, 1112, 1267, 1427, 1436, 1447, 2613, 2813], 'familial': [405, 435, 449, 488, 1861, 1882], 'was': [407, 514, 1061, 1068, 1118, 1204, 1228, 1241], 'found.5': [408], 'causes': [413, 1442, 3150], 'amino': [415], 'acid': [416], 'change': [417, 424], 'alanine': [419], 'proline': [421], 'thermal': [426], 'stability': [427], 'triple-helical': [431], 'domain.Clinical': [432], 'unique': [440], 'characteristics': [441], 'disorder.': [444, 548, 963], 'One': [445, 827], 'that': [448, 723, 763, 797, 830, 851, 896, 968, 1055, 1107, 1264, 1629, 1646], 'tended': [451], 'larger': [454], 'than': [455, 1085, 2908], 'sporadic': [456, 474, 877, 887, 2169], '(11': [458], 'mm': [459], 'versus': [460, 477], '8': [461], 'mm).': [462], 'Familial': [463], 'cases': [464, 475, 486, 878, 885, 2170, 2555], 'were': [465, 780, 837], 'likely': [467], '(26%': [476], '10%).6': [478], 'anticipation': [484], 'among': [485, 511, 2698], 'hemorrhage,': [492], 'parents': [494], 'having': [495], 'mean': [497], 'age': [498, 1067, 1086], '55.2': [500], 'years': [501, 510, 1293, 1515], 'time': [503, 553, 580], '35.4': [509], 'children.7': [512], 'or': [519, 1377, 1390, 1643, 1649], 'without': [520], 'pattern': [525, 2185], 'inheritance.All': [527], 'molecular': [537], 'epidemiology': [545, 2496], 'These': [549, 794, 1471], 'portend': [551], 'when': [554, 777], 'screening': [556], 'at-risk': [558], 'individuals': [559], 'possible.': [565], 'Medical': [566, 3107], 'and/or': [567], 'interventions': [569], 'prevent': [571, 1650], 'formation,': [573], 'growth,': [574], 'rupture': [576], 'still': [578], 'future.We': [583], 'continue': [584], 'unravel': [586], 'malformations': [592, 2137], '(CCMs)': [593], 'part': [597], 'ease': [600], 'diagnosis': [602], 'magnetic': [604, 846, 854], 'resonance': [605, 847, 855], 'imaging,': [606], 'availability': [611], 'informative': [614], 'throughout': [616], 'world.': [618], 'Three': [619], 'loci': [620], 'CCM': [622, 642, 675, 687, 757, 888], 'been': [624, 645, 1329], 'identified:': [625], 'CCM1': [626, 647, 2087, 2165], '(chromosome': [627], '7q),': [628], 'CCM2': [629, 652, 911], '(7p),': [630], 'CCM3': [632, 662, 913], '(3q).': [633], 'The': [634, 734, 944, 1025, 1100, 1393, 1435, 1598, 2378, 2461, 2681, 2834, 2838, 2984, 3057], 'responsible': [636, 875, 973], 'all': [638], '3': [639], 'now': [644, 677], 'identified.': [646], 'KRIT1,': [651], 'MGC4607': [656, 1950], '(also': [657], 'known': [658, 957, 1384], 'malcavernin),': [660], 'programmed': [666, 1975], 'cell': [667, 1976], 'death': [668, 736, 1977], 'protein': [669, 1117, 1272, 1391, 1464, 2007, 2383], '10.8,9Additional': [670], 'information': [671, 1088], 'about': [672, 1089], 'KRIT1': [673, 680, 704, 721, 750, 774, 821, 834, 874, 901, 2140], 'available.': [678], 'Although': [679, 1508], 'expressed': [682], 'many': [684, 738, 1365], 'other': [685, 805, 1042, 1149, 1244, 1326, 1603], 'tissues,': [686], 'only': [690, 1370, 2913], 'central': [693], 'nervous': [694], 'system.': [695], 'might': [697], 'explained': [699], 'expression': [702, 1389], 'endothelial': [707, 1342], 'cells,': [708], 'astrocvtic': [709], 'foot': [710], 'processes,': [711], 'pyramidal': [714, 2014], 'neurons.10': [715], 'knock-out': [717, 741], 'mouse': [718], 'model': [719], 'loss': [724, 751], 'leads': [728], 'dilatation': [730], 'vessels.11': [733], 'early': [735], 'animals': [742], 'limited': [743, 2919], "study's": [745], 'ability': [746], 'determine': [748, 918], 'how': [749, 1613], 'function': [753], 'could': [754], 'lead': [755, 811, 1618, 1633], 'formation.': [758], 'Plummer': [759, 2029, 2039, 2066], 'et': [760, 1208, 1312, 1792, 1970], 'al': [761], 'vascular': [764, 789, 2010, 2093, 2288, 2519, 3154], 'lesions': [765, 790], 'did': [766], 'not': [767, 2860, 2879, 2892, 2899], 'develop': [768], 'mice': [770, 779, 783, 2082], 'heterozygous': [771], 'mutation.': [775], 'However,': [776], 'crossed': [781], 'homozygous': [784], 'p53': [787, 2080], 'deletion,': [788], 'developed': [791], '55%.12': [793], 'results': [795, 1287, 2490], 'cases,': [800, 894, 1366], 'additional': [801], 'mutations': [802, 822, 872, 890, 899, 953, 2188, 2211], 'perhaps': [803], 'needed': [809, 916], 'development': [814, 1640, 2090], 'CCMs.Clinical': [816], 'radiologic': [818], 'penetrance': [819, 923], 'appear': [823, 902], 'incomplete.': [826], 'almost': [831, 1121], '50%': [832], 'mutation': [835, 2085, 2166], 'carriers': [836], 'asymptomatic.': [838], 'had': [843, 1448], 'normal': [844], 'brain': [845], 'imaging': [848, 856], 'results,': [849], 'meaning': [850], 'negative': [853], 'result': [857], 'cannot': [858], 'relied': [860], 'define': [863], 'individual': [865], 'noncarrier.13': [868], 'How': [869], 'often': [870], 'CCMs?': [880], '35': [884], '29%': [892], 'indicating': [895], 'de': [897, 1945, 2124, 2127, 2129], 'novo': [898], 'common.14': [906], 'Further': [907], 'their': [919, 930], 'clinical': [920, 1074, 2307, 2319, 3102], 'radiological': [922], 'various': [925, 1545], 'kindred,': [926], 'usefulness': [931], 'counseling.CADASIL': [934], 'remains': [935, 949], 'prototypical': [937], 'inherited': [938, 941, 2821], 'type': [939, 1258, 1623, 1827], 'ischemic': [942, 1093, 1173, 1239, 1335, 1375, 1433, 1459, 1486, 1535, 1606, 1696, 2469, 2498, 2513, 2548, 2594, 2696], 'exact': [945], 'CADASIL': [948, 994, 1010, 1031, 1053, 1601, 2312, 3099], 'mystery,': [951], 'although': [952], 'Notch3': [955, 2187, 2228], 'cause': [959, 1952, 1980], 'suggested': [967, 981], 'gain-of-function': [970, 2191], 'process': [971], 'disease': [976, 2739], 'whereas': [978], 'others': [979], 'abnormality': [983], 'signaling': [986, 2233], 'pathway': [987], 'patients.15,16Additional': [990], 'peripheral': [991], 'manifestations': [992], 'another': [996, 1104], 'area': [997], 'interest.': [999], 'Two': [1000], 'described': [1003], 'number': [1005, 1407], 'retinal': [1007], 'abnormalities': [1008, 2258, 2289], 'patients,': [1011], 'including': [1012, 1337], 'nerve': [1013], 'fiber': [1014], 'loss,': [1015], 'cotton': [1016], 'wool': [1017], 'spots,': [1018], 'arteriolar': [1019, 1022], 'sheathing,': [1020], 'narrowing/AV': [1023], 'nicking.17,18': [1024], 'specificity': [1026], 'changes': [1029, 1036], 'unclear,': [1033], 'such': [1035, 1195, 1248, 1519, 1533], 'can': [1037, 1538, 1647], 'also': [1038], 'conditions.': [1043], 'detailed': [1045], 'progression': [1048, 2314], '80': [1050, 2311], 'rate': [1057], 'recurrent': [1059], '10.4': [1062], 'per': [1063], '100': [1064], 'patient-years.': [1065], 'Baseline': [1066], 'key': [1070], 'factor': [1071, 1250, 2733, 2823], 'determining': [1073], 'progression,': [1075], 'deterioration': [1080], 'occurring': [1081], 'older': [1084], '40.19New': [1087], 'aspects': [1091], 'emerged': [1096], 'areas.': [1099], 'DeCode': [1101], 'group': [1102], 'published': [1103, 1205, 2854, 2893], 'showing': [1106], '4-marker': [1109], '5-lipoxygenase': [1115, 2381], 'activating': [1116, 2382], 'associated': [1119, 1333, 1552, 2212, 2620, 3016], '2-fold': [1123], 'increased': [1124, 1184, 1483, 1555], 'stroke.20': [1127], 'discovery': [1131, 3179], 'phosphodiesterase': [1139, 2464], '4D': [1140, 2465], 'last': [1142], 'year,': [1143], 'await': [1146], 'confirmation': [1147, 1737], 'research': [1150], 'groups': [1151], 'validation': [1153], 'animal': [1155], 'models': [1156], 'stroke.21Other': [1158], 'reviews': [1161], 'variable': [1164], 'degrees': [1165], 'influence': [1168], 'based': [1175], 'twin': [1177], 'studies.22': [1180], 'relate': [1187, 2849], 'heritability': [1190], 'hypertension.23': [1197], 'meta-analysis': [1200], 'Casas': [1207, 1311, 2535], 'al.': [1209, 1793, 1971], 'They': [1210], 'examined': [1211], '32': [1212], '18': [1215, 2265], '000': [1216, 1221], 'subjects': [1218], '58': [1220], 'controls.': [1222, 2558], 'Evidence': [1223], '(Table).24': [1233], 'No': [1234], 'statistically': [1235], 'detected': [1242], 'commonly': [1245], 'studied': [1246], 'XIII,': [1251], 'apolipoprotein': [1252], 'E,': [1253, 1681, 1727, 1942, 2121, 2158, 2480, 2508, 2571, 2583, 2773], 'human': [1255, 1284, 1506, 2019, 2058], 'platelet': [1256, 1355], 'antigen': [1257], '1.': [1259], 'Other': [1260], 'specific': [1266, 1372], 'atrial': [1270], 'natriuretic': [1271, 2587], 'effect': [1279, 2683], 'studies,': [1285], 'confirming': [1286], 'rodent': [1290], 'ago.25Genetic': [1294], 'Polymorphisms': [1295, 2753], 'Associated': [1296], 'With': [1297], 'Ischemic': [1298, 2757], 'StrokeGenePolymorphismOdds': [1299], 'Ratio95%': [1300], 'CIMTHFR': [1301], 'indicates': [1302], 'methylene': [1303], 'tetrahydrofolate': [1304], 'reductase;': [1305], 'ACE,': [1306], 'angiotensin-converting': [1307], 'enzyme.Data': [1308], 'derived': [1309], 'al.24Factor': [1313], 'V': [1314, 3205], 'LeidenArg': [1315], '506': [1316], 'Gln1.331.12–1.58MTHFRC': [1317], '677': [1318], 'G1.241.08–1.42ProthrombinG': [1319], '20210': [1320], 'A1.441.11–1.86ACEInsertion/deletion1.211.08–1.35Polymorphisms': [1321], 'host': [1324], 'reported': [1330], 'low-density': [1339, 2616], 'lipoprotein': [1340, 2617], 'receptor,': [1341], 'nitric': [1343, 2656], 'oxide': [1344, 2657], 'synthase,': [1345], 'tissue': [1346], 'plasminogen': [1347], 'activator,': [1348], 'serum': [1349], 'paraoxonase,': [1350], 'glycoprotein': [1352], 'IIIa': [1353], '(a': [1354], 'membrane': [1356], 'receptor': [1357, 2618], 'fibrinogen': [1359], 'von': [1361], 'Willebrand': [1362], 'factor).26–29': [1363], 'associations': [1368], 'subtypes': [1373, 2523], 'polymorphisms': [1379, 2590, 2690, 3009], 'intronic': [1381], 'no': [1383, 2906], 'functional': [1385], 'significance': [1386], 'function.': [1392], 'ongoing': [1394], 'POLARIS': [1395], 'will': [1397, 1608, 1632, 2912, 2930], 'hopefully': [1398], 'address': [1399], 'concerns': [1403], 'its': [1405, 2955], 'careful': [1411], 'design.30': [1413], 'one': [1415], 'intriguing': [1419], 'new': [1420, 1573, 1610], 'report': [1422], 'COX-2': [1430, 1491], 'events.': [1434], 'position': [1439], '−765': [1440], 'G-to-C': [1444], 'change.': [1445], 'protective': [1450, 2822], 'effect,': [1451], 'reducing': [1452, 1462], 'myocardial': [1456, 2387, 2825, 3174], 'C-reactive': [1463], 'MMP2': [1466], 'MMP': [1468], '9': [1469], 'expression.31': [1470], 'findings': [1472], 'relevant': [1475], 'light': [1477], 'reports': [1480], 'events': [1487], 'inhibitors.An': [1492], 'international': [1493], 'consortium': [1494], 'experts': [1497], 'working': [1499], 'haplotype': [1502], 'map': [1503, 1512], 'genome.32': [1507], 'completion': [1509], 'future,': [1518], 'resource': [1521], 'valuable': [1525], 'studying': [1527], 'disorders': [1532], 'cited,': [1544], 'haplotypes': [1546, 1563, 2659], 'important': [1548, 1572], 'Therefore,': [1559], 'simultaneously': [1567], 'emerging': [1569], 'frontier': [1574], 'disorders.In': [1581], 'summary,': [1582], 'type,': [1591], 'increasing': [1593], 'rapid': [1596], 'pace.': [1597], 'provide': [1609], 'insights': [1611], 'into': [1612], 'monogenic': [1614], 'polygenic': [1616], 'common': [1622], 'We': [1626], 'hopeful': [1628], 'improved': [1635], 'counseling': [1637], 'somatic': [1642], 'therapies': [1645], 'treat': [1648], 'stroke.FootnotesCorrespondence': [1651], 'Dr': [1653], 'Alberts,': [1656], 'Director,': [1657], 'Program,': [1659], 'Neurology,': [1662], '710': [1669], 'N': [1670], 'Lake': [1671], 'Shore': [1672], 'Dr,': [1673], 'IL': [1675], '60611.': [1676], 'E-mail': [1677], '[email': [1678], 'protected]References1': [1679], 'Flossmann': [1680, 2479, 2507], 'Schulz': [1682, 2481, 2505], 'U,': [1683, 2154, 2337, 2442], 'Rothwell': [1684, 2483, 2509], 'P.': [1685, 2542], 'Confounding': [1686], 'intermediate': [1688], 'phenotypes': [1689], 'Cerebrovasc': [1698], 'Dis.': [1699], '2004;': [1700, 1752, 1782, 1807, 1839, 1865, 1889, 1960, 1988, 2023, 2062, 2098, 2145, 2176, 2196, 2239, 2271, 2293, 2322, 2393, 2501, 2531, 2561, 2599, 2635, 2667, 2703, 2743, 2766, 2830], '19:': [1701], '1–10.MedlineGoogle': [1702], 'Scholar2': [1703], 'van': [1704], 'der': [1705], 'Voet': [1706], 'M,': [1707, 1715, 1719, 1729, 1902, 1916, 1936, 1938, 2113, 2115, 2203, 2248, 2361, 2363, 2418, 2428, 2450, 2644, 2777, 2789, 2791, 3092], 'Olson': [1708], 'JM,': [1709, 1757, 1934], 'Kuivaniemi': [1710], 'H,': [1711, 1813, 1815, 1817, 1920, 2156, 2335, 2353, 2373, 2422, 2424, 2991, 3116], 'Dudek': [1712], 'DM,': [1713, 2748], 'Skunca': [1714], 'Ronkainen': [1716], 'A,': [1717, 1789, 1848, 1904, 1928, 2119, 2201, 2252, 2284, 2327, 2329, 2369, 2404, 2456, 2538, 2575, 2581, 2640, 2708, 2779, 2793, 2803, 2807, 3084, 3086, 3088], 'Niemela': [1718], 'Jaaskelainen': [1720], 'J,': [1721, 1723, 1763, 1767, 1908, 1940, 1996, 2032, 2117, 2300, 2359, 2432, 2448, 2536, 2646, 2652, 2714, 2997, 2999, 3141, 3200], 'Hernesniemi': [1722], 'Helin': [1724], 'K,': [1725, 1819, 2028, 2458, 2642], 'Leinonen': [1726], 'Biswas': [1728], 'Tromp': [1730], 'G.': [1731], 'Intracranial': [1732], 'families:': [1736], 'refinement': [1741], 'interval': [1744], '19q13.3.': [1747], 'Am': [1748, 1803, 1956, 1984, 2095, 2235], 'J': [1749, 1804, 1885, 1957, 1985, 2096, 2236, 2267, 3121], 'Hum': [1750, 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