A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic? | Journal of Medical Genetics

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A frameshift mitochondrial complex I gene mutation in a patient with dystonia and cataracts: is the mutation pathogenic?

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	Abstract	Full	Pdf
Jan 2001	0	13	0
Feb 2001	0	13	0
Mar 2001	0	4	0
Apr 2001	0	9	0
May 2001	0	22	0
Jun 2001	0	8	0
Jul 2001	0	7	0
Aug 2001	0	4	0
Sep 2001	0	3	0
Oct 2001	0	7	0
Nov 2001	0	12	0
Dec 2001	0	3	0
Jan 2002	0	4	0
Feb 2002	0	9	0
Mar 2002	0	9	0
Apr 2002	0	7	1
May 2002	0	7	0
Jun 2002	0	13	0
Jul 2002	0	6	0
Aug 2002	0	4	0
Sep 2002	0	8	0
Oct 2002	0	7	0
Nov 2002	0	7	0
Dec 2002	0	10	0
Jan 2003	0	7	0
Feb 2003	0	5	0
Mar 2003	0	1	0
Apr 2003	0	7	0
May 2003	0	6	0
Jun 2003	0	10	0
Jul 2003	1	73	0
Aug 2003	0	9	0
Sep 2003	0	13	0
Oct 2003	0	53	0
Nov 2003	0	15	0
Dec 2003	0	11	0
Jan 2004	0	59	0
Feb 2004	0	7	0
Mar 2004	0	21	0
Apr 2004	0	17	0
May 2004	0	41	0
Jun 2004	0	57	0
Jul 2004	0	53	0
Aug 2004	0	76	0
Sep 2004	0	67	0
Oct 2004	7	22	0
Nov 2004	10	35	0
Dec 2004	6	22	0
Jan 2005	8	31	0
Feb 2005	2	28	0
Mar 2005	6	24	0
Apr 2005	0	15	0
May 2005	2	22	0
Jun 2005	1	19	0
Jul 2005	1	25	0
Aug 2005	1	14	3
Sep 2005	0	9	0
Oct 2005	5	26	0
Nov 2005	2	34	0
Dec 2005	1	20	0
Jan 2006	5	21	0
Feb 2006	0	15	0
Mar 2006	0	35	0
Apr 2006	0	20	0
May 2006	0	14	2
Jun 2006	2	11	0
Jul 2006	2	17	0
Aug 2006	0	9	0
Sep 2006	0	14	0
Oct 2006	3	31	0
Nov 2006	1	19	2
Dec 2006	0	18	0
Jan 2007	2	21	0
Feb 2007	0	12	0
Mar 2007	3	16	0
Apr 2007	7	10	0
May 2007	10	7	0
Jun 2007	9	12	0
Jul 2007	7	8	0
Aug 2007	8	4	0
Sep 2007	10	8	0
Oct 2007	5	3	0
Nov 2007	7	3	0
Dec 2007	4	1	0
Jan 2008	4	3	0
Feb 2008	9	3	0
Mar 2008	8	4	0
Apr 2008	8	4	0
May 2008	6	6	0
Jun 2008	4	4	0
Jul 2008	8	3	0
Aug 2008	4	4	0
Sep 2008	11	7	0
Oct 2008	6	2	0
Nov 2008	3	4	0
Dec 2008	5	3	0
Jan 2009	5	1	0
Feb 2009	9	2	0
Mar 2009	10	2	0
Apr 2009	8	3	0
May 2009	5	1	0
Jun 2009	4	3	0
Jul 2009	11	6	0
Aug 2009	2	1	0
Sep 2009	5	5	0
Oct 2009	7	6	0
Nov 2009	4	6	0
Dec 2009	3	0	0
Jan 2010	5	3	0
Feb 2010	2	0	0
Mar 2010	4	1	0
Apr 2010	4	5	0
May 2010	4	1	0
Jun 2010	1	1	0
Jul 2010	2	1	0
Aug 2010	7	2	0
Sep 2010	3	1	0
Oct 2010	5	7	0
Nov 2010	9	9	0
Dec 2010	5	6	0
Jan 2011	8	5	0
Feb 2011	10	6	0
Mar 2011	17	1	0
Apr 2011	14	4	0
May 2011	15	2	0
Jun 2011	6	1	0
Jul 2011	43	2	0
Aug 2011	15	0	0
Sep 2011	41	3	0
Oct 2011	25	8	0
Nov 2011	24	2	0
Dec 2011	26	5	0
Jan 2012	24	6	0
Feb 2012	25	14	0
Mar 2012	17	11	0
Apr 2012	19	13	0
May 2012	13	10	0
Jun 2012	8	14	0
Jul 2012	16	9	0
Aug 2012	10	7	0
Sep 2012	25	12	0
Oct 2012	30	10	0
Nov 2012	36	14	0
Dec 2012	11	4	0
Jan 2013	21	18	0
Feb 2013	16	9	0
Mar 2013	12	9	0
Apr 2013	10	19	0
May 2013	22	15	0
Jun 2013	10	10	0
Jul 2013	21	6	0
Aug 2013	14	10	0
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Oct 2013	18	4	0
Nov 2013	1	7	0
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Jul 2014	6	10	0
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Oct 2014	2	4	0
Nov 2014	3	5	0
Dec 2014	4	4	0
Jan 2015	2	7	0
Feb 2015	7	1	0
Mar 2015	8	9	0
Apr 2015	7	6	0
May 2015	6	11	0
Jun 2015	13	1	0
Jul 2015	28	5	0
Aug 2015	17	2	0
Sep 2015	105	6	0
Oct 2015	5	1	0
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Dec 2015	45	4	0
Jan 2016	17	4	0
Feb 2016	16	7	0
Mar 2016	35	4	0
Apr 2016	6	2	0
May 2016	6	5	0
Jun 2016	3	5	0
Jul 2016	8	5	0
Aug 2016	7	42	0
Sep 2016	6	16	0
Oct 2016	5	11	0
Nov 2016	7	4	0
Dec 2016	5	7	0
Jan 2017	5	3	0
Feb 2017	3	8	0
Mar 2017	3	10	0
Apr 2017	0	14	0
May 2017	3	15	0
Jun 2017	4	9	0
Jul 2017	9	9	0
Aug 2017	10	10	0
Sep 2017	17	13	0
Oct 2017	20	14	0
Nov 2017	26	18	0
Dec 2017	20	18	0
Jan 2018	16	10	0
Feb 2018	16	13	0
Mar 2018	16	16	0
Apr 2018	17	17	0
May 2018	20	15	0
Jun 2018	18	18	0
Jul 2018	12	6	0
Aug 2018	9	9	0
Sep 2018	10	10	0
Oct 2018	54	54	0
Nov 2018	9	7	0
Dec 2018	4	4	0
Jan 2019	9	9	0
Feb 2019	20	20	0
Mar 2019	18	19	0
Apr 2019	10	10	0
May 2019	18	16	0
Jun 2019	5	5	0
Jul 2019	9	10	0
Aug 2019	4	4	0
Sep 2019	9	9	0
Oct 2019	7	8	0
Nov 2019	4	4	0
Dec 2019	3	3	0
Jan 2020	18	16	0
Feb 2020	7	7	0
Mar 2020	3	3	0
Apr 2020	5	5	0
May 2020	11	11	0
Jun 2020	4	4	0
Jul 2020	4	4	0
Aug 2020	4	4	0
Sep 2020	15	15	0
Oct 2020	36	33	0
Nov 2020	27	27	0
Dec 2020	10	10	0
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Feb 2021	11	7	0
Mar 2021	9	9	0
Apr 2021	6	6	0
May 2021	10	10	0
Jun 2021	16	16	0
Jul 2021	7	7	0
Aug 2021	6	6	0
Sep 2021	5	5	0
Oct 2021	9	9	0
Nov 2021	13	11	0
Dec 2021	19	19	0
Jan 2022	28	29	0
Feb 2022	41	41	0
Mar 2022	68	68	0
Apr 2022	59	59	0
May 2022	53	53	0
Jun 2022	75	76	0
Jul 2022	43	43	0
Aug 2022	87	88	0
Sep 2022	62	62	0
Oct 2022	38	38	0
Nov 2022	67	67	0
Dec 2022	61	60	0
Jan 2023	59	59	0
Feb 2023	69	69	0
Mar 2023	47	47	0
Apr 2023	54	56	0
May 2023	48	48	0
Jun 2023	80	80	0
Jul 2023	82	82	0
Aug 2023	62	56	0
Sep 2023	4	4	0
Oct 2023	12	10	0
Nov 2023	16	16	0
Dec 2023	31	1	0
Jan 2024	25	0	0
Feb 2024	9	0	0
Mar 2024	26	13	0
Apr 2024	10	0	0
May 2024	31	0	0
Jun 2024	16	0	0
Jul 2024	22	0	0
Aug 2024	31	0	0
Sep 2024	11	0	0
Oct 2024	23	3	0
Nov 2024	29	1	0
Total	3628	4071	8