Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism

Nobuaki Wakamatsu; Masataka Hayashi; Hisaomi Kawai; Hiroshi Kondo; Yasuo Gotoda; Yoshihiko Nishida; Rui Kondo; Shoji Tsuji; Toshio Matsumoto

doi:10.1136/jnnp.67.2.195

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Paper

Mutations producing premature termination of translation and an amino acid substitution in the sterol 27-hydroxylase gene cause cerebrotendinous xanthomatosis associated with parkinsonism

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	Abstract	Full	Pdf
Jul 1999	13	19	2
Aug 1999	4	9	3
Sep 1999	7	4	1
Oct 1999	2	7	1
Nov 1999	5	5	0
Dec 1999	1	3	3
Jan 2000	0	3	2
Feb 2000	2	4	1
Mar 2000	0	2	2
Apr 2000	1	1	0
May 2000	0	3	2
Jul 2000	1	3	5
Aug 2000	2	3	2
Sep 2000	0	2	0
Oct 2000	3	2	0
Nov 2000	4	6	2
Dec 2000	0	3	1
Jan 2001	1	2	2
Feb 2001	0	2	1
Mar 2001	0	2	2
Apr 2001	2	5	2
Jun 2001	0	2	0
Jul 2001	0	1	1
Aug 2001	2	0	0
Sep 2001	2	0	0
Oct 2001	0	5	2
Nov 2001	1	2	0
Jan 2002	0	4	2
Feb 2002	2	8	0
Apr 2002	1	0	0
May 2002	0	4	0
Jun 2002	0	1	0
Jul 2002	0	6	0
Aug 2002	0	4	3
Sep 2002	1	5	1
Oct 2002	1	0	0
Nov 2002	0	6	2
Dec 2002	1	8	2
Jan 2003	0	4	2
Feb 2003	0	1	4
Mar 2003	0	3	0
Apr 2003	0	5	2
May 2003	0	1	2
Jun 2003	1	1	0
Jul 2003	0	3	3
Aug 2003	1	2	1
Sep 2003	1	7	4
Oct 2003	1	2	4
Nov 2003	1	9	3
Dec 2003	2	8	6
Jan 2004	4	3	1
Feb 2004	0	2	1
Mar 2004	1	3	2
Apr 2004	0	2	2
May 2004	0	3	1
Jun 2004	6	9	0
Jul 2004	44	61	4
Aug 2004	35	46	2
Sep 2004	23	39	2
Oct 2004	10	22	0
Nov 2004	15	23	0
Dec 2004	10	17	0
Jan 2005	17	34	0
Feb 2005	14	42	6
Mar 2005	12	22	2
Apr 2005	3	14	2
May 2005	5	16	1
Jun 2005	4	6	1
Jul 2005	7	9	2
Aug 2005	4	10	2
Sep 2005	7	6	3
Oct 2005	5	21	5
Nov 2005	10	14	3
Dec 2005	2	9	2
Jan 2006	4	11	2
Feb 2006	8	9	0
Mar 2006	12	13	3
Apr 2006	5	13	1
May 2006	8	13	3
Jun 2006	7	9	4
Jul 2006	4	5	2
Aug 2006	2	11	1
Sep 2006	3	11	5
Oct 2006	6	19	5
Nov 2006	5	18	2
Dec 2006	4	13	1
Jan 2007	3	9	0
Feb 2007	0	7	2
Mar 2007	2	14	5
Apr 2007	8	1	0
May 2007	7	2	1
Jun 2007	4	6	0
Jul 2007	3	4	2
Aug 2007	2	4	3
Sep 2007	7	2	1
Oct 2007	4	1	0
Nov 2007	5	0	0
Dec 2007	1	5	2
Jan 2008	1	0	2
Feb 2008	8	2	1
Mar 2008	11	0	0
Apr 2008	7	1	1
May 2008	3	1	0
Jun 2008	8	6	4
Jul 2008	6	1	0
Aug 2008	12	3	0
Sep 2008	8	3	2
Oct 2008	6	0	0
Nov 2008	3	2	0
Dec 2008	6	12	0
Jan 2009	3	2	0
Feb 2009	5	1	1
Mar 2009	21	7	2
Apr 2009	1	0	2
May 2009	2	0	2
Jun 2009	5	0	0
Jul 2009	5	2	0
Aug 2009	2	1	0
Sep 2009	4	0	1
Oct 2009	2	0	0
Nov 2009	9	6	2
Dec 2009	5	0	1
Jan 2010	2	0	2
Feb 2010	0	1	0
Mar 2010	4	0	2
Apr 2010	3	3	2
May 2010	13	1	0
Jun 2010	7	0	2
Jul 2010	7	1	1
Aug 2010	3	0	1
Sep 2010	4	0	0
Oct 2010	4	0	0
Nov 2010	15	2	1
Dec 2010	3	0	1
Jan 2011	5	5	2
Feb 2011	4	1	0
Mar 2011	7	2	1
Apr 2011	7	0	0
May 2011	6	2	2
Jun 2011	2	1	1
Jul 2011	5	0	0
Aug 2011	10	0	0
Sep 2011	5	2	3
Oct 2011	17	0	1
Nov 2011	5	2	0
Dec 2011	9	3	2
Jan 2012	8	6	2
Feb 2012	6	4	2
Mar 2012	6	4	1
Apr 2012	6	9	3
May 2012	11	5	3
Jun 2012	10	5	4
Jul 2012	10	9	2
Aug 2012	2	3	3
Sep 2012	7	7	3
Oct 2012	8	16	7
Nov 2012	12	12	3
Dec 2012	14	12	10
Jan 2013	25	11	2
Feb 2013	10	8	2
Mar 2013	10	14	8
Apr 2013	15	20	6
May 2013	22	7	10
Jun 2013	8	3	2
Jul 2013	2	4	1
Aug 2013	6	7	6
Sep 2013	8	4	0
Oct 2013	5	5	0
Nov 2013	9	5	3
Dec 2013	9	5	2
Jan 2014	5	5	2
Feb 2014	4	1	3
Mar 2014	8	3	9
Apr 2014	9	8	4
May 2014	10	7	5
Jun 2014	5	4	3
Jul 2014	18	6	7
Aug 2014	8	5	1
Sep 2014	8	4	5
Oct 2014	9	7	4
Nov 2014	14	1	2
Dec 2014	0	2	1
Jan 2015	4	1	6
Feb 2015	1	0	4
Mar 2015	8	2	0
Apr 2015	6	12	3
May 2015	7	6	1
Jun 2015	5	4	2
Jul 2015	6	3	0
Aug 2015	5	1	3
Sep 2015	8	2	0
Oct 2015	7	1	0
Nov 2015	5	5	0
Dec 2015	6	2	5
Jan 2016	7	1	3
Feb 2016	3	3	0
Mar 2016	4	6	6
Apr 2016	6	2	3
May 2016	7	2	4
Jun 2016	4	0	2
Jul 2016	4	2	2
Aug 2016	2	4	2
Sep 2016	4	0	1
Oct 2016	11	4	4
Nov 2016	18	4	5
Dec 2016	13	10	4
Jan 2017	29	3	1
Feb 2017	7	4	0
Mar 2017	5	12	3
Apr 2017	2	8	0
May 2017	1	21	0
Jun 2017	2	6	2
Jul 2017	5	4	0
Aug 2017	7	7	1
Sep 2017	8	4	0
Oct 2017	9	7	0
Nov 2017	16	10	3
Dec 2017	16	10	1
Jan 2018	10	4	2
Feb 2018	18	16	2
Mar 2018	97	89	1
Apr 2018	17	9	1
May 2018	12	11	6
Jun 2018	28	10	2
Jul 2018	9	7	1
Aug 2018	16	12	4
Sep 2018	23	23	4
Oct 2018	35	33	8
Nov 2018	24	24	1
Dec 2018	44	44	7
Jan 2019	28	28	2
Feb 2019	17	18	5
Mar 2019	15	15	6
Apr 2019	8	8	8
May 2019	8	7	5
Jun 2019	4	4	6
Jul 2019	7	7	8
Aug 2019	4	2	4
Sep 2019	3	3	2
Oct 2019	25	21	4
Nov 2019	10	10	2
Dec 2019	15	15	2
Jan 2020	11	11	6
Feb 2020	19	16	9
Mar 2020	6	6	4
Apr 2020	10	10	3
May 2020	13	13	5
Jun 2020	7	7	3
Jul 2020	13	13	3
Aug 2020	4	4	3
Sep 2020	19	11	4
Oct 2020	30	22	5
Nov 2020	19	19	1
Dec 2020	21	21	2
Jan 2021	36	32	4
Feb 2021	13	13	6
Mar 2021	21	21	2
Apr 2021	12	13	6
May 2021	6	6	4
Jun 2021	12	12	2
Jul 2021	18	18	2
Aug 2021	12	12	5
Sep 2021	8	8	7
Oct 2021	7	7	16
Nov 2021	5	5	15
Dec 2021	6	6	3
Jan 2022	6	6	4
Feb 2022	14	15	4
Mar 2022	18	18	1
Apr 2022	15	15	1
May 2022	21	19	7
Jun 2022	32	32	3
Jul 2022	20	20	1
Aug 2022	20	20	5
Sep 2022	22	22	5
Oct 2022	23	23	9
Nov 2022	23	20	13
Dec 2022	8	8	3
Jan 2023	5	5	4
Feb 2023	28	28	2
Mar 2023	8	7	1
Apr 2023	6	4	2
May 2023	1	1	4
Jun 2023	8	8	1
Jul 2023	5	4	4
Aug 2023	3	3	6
Sep 2023	7	5	2
Oct 2023	7	6	3
Nov 2023	8	8	3
Dec 2023	43	3	0
Jan 2024	55	3	2
Feb 2024	14	0	0
Mar 2024	10	0	0
Total	2528	2341	717

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