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ANGPTL6 Genetic Variants Are an Underlying Cause of Familial Intracranial Aneurysms.
Hostettler IC, O'Callaghan B, Bugiardini E, O'Connor E, Vandrovcova J, Davagnanam I, Alg V, Bonner S, Walsh D, Bulters D, Kitchen N, Brown MM, Grieve J, Werring DJ, Houlden H; Genetics and Observational Subarachnoid Haemorrhage (GOSH) study investigators. Hostettler IC, et al. Neurology. 2021 Feb 9;96(6):e947-e955. doi: 10.1212/WNL.0000000000011125. Epub 2020 Oct 26. Neurology. 2021. PMID: 33106390 Free PMC article.
Effects of antiplatelet therapy on stroke risk by brain imaging features of intracerebral haemorrhage and cerebral small vessel diseases: subgroup analyses of the RESTART randomised, open-label trial.
Al-Shahi Salman R, Minks DP, Mitra D, Rodrigues MA, Bhatnagar P, du Plessis JC, Joshi Y, Dennis MS, Murray GD, Newby DE, Sandercock PAG, Sprigg N, Stephen J, Sudlow CLM, Werring DJ, Whiteley WN, Wardlaw JM, White PM; RESTART Collaboration. Al-Shahi Salman R, et al. Lancet Neurol. 2019 Jul;18(7):643-652. doi: 10.1016/S1474-4422(19)30184-X. Epub 2019 May 22. Lancet Neurol. 2019. PMID: 31129065 Free PMC article. Clinical Trial.
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Chelban V, Wilson MP, Warman Chardon J, Vandrovcova J, Zanetti MN, Zamba-Papanicolaou E, Efthymiou S, Pope S, Conte MR, Abis G, Liu YT, Tribollet E, Haridy NA, Botía JA, Ryten M, Nicolaou P, Minaidou A, Christodoulou K, Kernohan KD, Eaton A, Osmond M, Ito Y, Bourque P, Jepson JEC, Bello O, Bremner F, Cordivari C, Reilly MM, Foiani M, Heslegrave A, Zetterberg H, Heales SJR, Wood NW, Rothman JE, Boycott KM, Mills PB, Clayton PT, Houlden H; Care4Rare Canada Consortium and the SYNaPS Study Group. Chelban V, et al. Ann Neurol. 2019 Aug;86(2):225-240. doi: 10.1002/ana.25524. Epub 2019 Jul 1. Ann Neurol. 2019. PMID: 31187503 Free PMC article.
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.
Salpietro V, Dixon CL, Guo H, Bello OD, Vandrovcova J, Efthymiou S, Maroofian R, Heimer G, Burglen L, Valence S, Torti E, Hacke M, Rankin J, Tariq H, Colin E, Procaccio V, Striano P, Mankad K, Lieb A, Chen S, Pisani L, Bettencourt C, Männikkö R, Manole A, Brusco A, Grosso E, Ferrero GB, Armstrong-Moron J, Gueden S, Bar-Yosef O, Tzadok M, Monaghan KG, Santiago-Sim T, Person RE, Cho MT, Willaert R, Yoo Y, Chae JH, Quan Y, Wu H, Wang T, Bernier RA, Xia K, Blesson A, Jain M, Motazacker MM, Jaeger B, Schneider AL, Boysen K, Muir AM, Myers CT, Gavrilova RH, Gunderson L, Schultz-Rogers L, Klee EW, Dyment D, Osmond M, Parellada M, Llorente C, Gonzalez-Peñas J, Carracedo A, Van Haeringen A, Ruivenkamp C, Nava C, Heron D, Nardello R, Iacomino M, Minetti C, Skabar A, Fabretto A; SYNAPS Study Group; Raspall-Chaure M, Chez M, Tsai A, Fassi E, Shinawi M, Constantino JN, De Zorzi R, Fortuna S, Kok F, Keren B, Bonneau D, Choi M, Benzeev B, Zara F, Mefford HC, Scheffer IE, Clayton-Smith J, Macaya A, Rothman JE, Eichler EE, Kullmann DM, Houlden H. Salpietro V, et al. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w. Nat Commun. 2019. PMID: 31300657 Free PMC article.
C9orf72 and intracerebral hemorrhage.
Hostettler IC, Bernal-Quiros M, Wong A, Sharma N, Wilson D, Seiffge DJ, Shakeshaft C, Jäger HR, Cohen H, Yousry T, Al-Shahi Salman R, Lip GYH, Brown MM, Muir KW, Werring DJ, Houlden H; CROMIS-2 collaborators. Hostettler IC, et al. Neurobiol Aging. 2019 Dec;84:237.e1-237.e3. doi: 10.1016/j.neurobiolaging.2019.07.007. Epub 2019 Jul 18. Neurobiol Aging. 2019. PMID: 31582231 Free article.
72 results