Skip to main content
Subscribe
Log In
More
Log in via Institution
Log in via OpenAthens
Log in via CCMG
Log in using your username and password
For personal accounts OR managers of institutional accounts
Username
*
Password
*
Forgot your log in details?
Register a new account?
Forgot
your user name or password?
Basket
Search
More
Search for this keyword
Advanced search
Latest content
Current issue
Archive
Authors
About
Search for this keyword
Advanced search
Close
More
Main menu
Latest content
Current issue
Archive
Authors
About
Subscribe
Log in
More
Log in via Institution
Log in via OpenAthens
Log in via CCMG
Log in using your username and password
For personal accounts OR managers of institutional accounts
Username
*
Password
*
Forgot your log in details?
Register a new account?
Forgot
your user name or password?
BMJ Journals
You are here
Home
Archive
Volume 50, Issue 8
Recessive truncating NALCN mutation in infantile neuroaxonal dystrophy with facial dysmorphism
Email alerts
Article metrics
Article menu
Article
Text
Article
info
Citation
Tools
Share
Rapid Responses
Article
metrics
Alerts
PDF
New disease loci
Original article
Recessive truncating
NALCN
mutation in infantile neuroaxonal dystrophy with facial dysmorphism
Online download statistics by month:
Online download statistics by month: June 2013 to September 2024
Abstract
Full
Pdf
Jun 2013
249
172
26
Jul 2013
413
30
44
Aug 2013
285
23
31
Sep 2013
158
31
36
Oct 2013
99
23
24
Nov 2013
50
10
12
Dec 2013
57
16
15
Jan 2014
56
13
9
Feb 2014
58
11
15
Mar 2014
40
18
11
Apr 2014
70
8
11
May 2014
40
6
6
Jun 2014
46
7
6
Jul 2014
37
17
16
Aug 2014
29
6
6
Sep 2014
27
4
4
Oct 2014
19
11
5
Nov 2014
42
3
6
Dec 2014
30
7
9
Jan 2015
58
11
7
Feb 2015
31
7
9
Mar 2015
43
19
16
Apr 2015
47
11
14
May 2015
22
10
8
Jun 2015
26
3
3
Jul 2015
37
10
13
Aug 2015
18
10
11
Sep 2015
43
16
9
Oct 2015
13
12
9
Nov 2015
51
13
11
Dec 2015
44
8
2
Jan 2016
43
8
4
Feb 2016
38
9
11
Mar 2016
17
16
9
Apr 2016
21
5
6
May 2016
33
11
7
Jun 2016
29
7
6
Jul 2016
33
8
5
Aug 2016
35
5
7
Sep 2016
91
2
6
Oct 2016
44
6
4
Nov 2016
41
14
8
Dec 2016
20
10
9
Jan 2017
38
5
2
Feb 2017
22
3
2
Mar 2017
41
11
7
Apr 2017
40
15
5
May 2017
31
5
1
Jun 2017
42
4
1
Jul 2017
119
11
6
Aug 2017
109
4
1
Sep 2017
76
5
1
Oct 2017
86
3
2
Nov 2017
131
3
8
Dec 2017
120
6
7
Jan 2018
186
9
11
Feb 2018
130
7
4
Mar 2018
135
16
6
Apr 2018
110
12
1
May 2018
166
7
2
Jun 2018
141
8
5
Jul 2018
156
9
7
Aug 2018
118
9
5
Sep 2018
82
7
2
Oct 2018
101
5
4
Nov 2018
93
9
2
Dec 2018
78
9
3
Jan 2019
62
6
1
Feb 2019
91
8
6
Mar 2019
52
3
6
Apr 2019
47
7
4
May 2019
43
4
3
Jun 2019
56
2
0
Jul 2019
82
11
3
Aug 2019
72
6
4
Sep 2019
86
9
6
Oct 2019
93
9
3
Nov 2019
76
6
2
Dec 2019
79
12
5
Jan 2020
125
11
8
Feb 2020
37
7
4
Mar 2020
127
10
8
Apr 2020
72
6
2
May 2020
34
4
4
Jun 2020
94
0
0
Jul 2020
111
5
1
Aug 2020
58
5
0
Sep 2020
126
6
3
Oct 2020
63
2
0
Nov 2020
132
7
3
Dec 2020
119
8
5
Jan 2021
94
6
3
Feb 2021
125
9
9
Mar 2021
66
3
2
Apr 2021
52
6
5
May 2021
13
5
3
Jun 2021
12
6
7
Jul 2021
13
11
6
Aug 2021
33
35
11
Sep 2021
10
8
2
Oct 2021
100
6
4
Nov 2021
90
10
5
Dec 2021
102
4
4
Jan 2022
78
7
2
Feb 2022
47
3
3
Mar 2022
80
9
3
Apr 2022
47
5
0
May 2022
131
2
3
Jun 2022
170
3
2
Jul 2022
71
13
7
Aug 2022
109
9
8
Sep 2022
78
6
4
Oct 2022
100
6
3
Nov 2022
76
12
4
Dec 2022
39
4
2
Jan 2023
112
12
4
Feb 2023
85
4
1
Mar 2023
53
5
4
Apr 2023
40
4
1
May 2023
47
3
1
Jun 2023
63
7
2
Jul 2023
44
1
0
Aug 2023
42
4
1
Sep 2023
33
3
0
Oct 2023
94
5
2
Nov 2023
97
4
2
Dec 2023
87
3
0
Jan 2024
65
4
1
Feb 2024
94
11
6
Mar 2024
62
4
2
Apr 2024
72
2
1
May 2024
56
7
3
Jun 2024
59
7
3
Jul 2024
58
4
3
Aug 2024
68
6
2
Sep 2024
64
9
6
Total
10102
1280
809
Read the full text or download the PDF:
Subscribe
Log in
Log in via Institution
Log in via OpenAthens
Log in via CCMG
Log in using your username and password
For personal accounts OR managers of institutional accounts
Username
*
Password
*
Forgot your log in details?
Register a new account?
Forgot
your user name or password?