1 |
ATP7A mutation with occipital horns and distal motor neuropathy: A continuum.
61
|
Fradin M...Pasquier L
|
33137485 |
2020 |
2 |
ATP7A Clinical Genetics Resource - A comprehensive clinically annotated database and resource for genetic variants in ATP7A gene.
61
|
Mhaske A...Binukumar BK
|
32994893 |
2020 |
3 |
Modelling the pathogenesis of X-linked distal hereditary motor neuropathy using patient-derived iPSCs.
61
|
Perez-Siles G...Kennerson ML
|
31969342 |
2020 |
4 |
Characterizing the molecular phenotype of an Atp7a(T985I) conditional knock in mouse model for X-linked distal hereditary motor neuropathy (dHMNX).
61
|
Perez-Siles G...Kennerson ML
|
27293072 |
2016 |
5 |
Inborn errors of copper metabolism.
61
|
Kaler SG
|
23622398 |
2013 |
6 |
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
61
|
Kennerson ML...Garbern JY
|
20170900 |
2010 |
7 |
X-linked distal hereditary motor neuropathy maps to the DSMAX locus on chromosome Xq13.1-q21.
61
|
Kennerson M...Garbern J
|
19153371 |
2009 |
8 |
Syndromic choroideremia: sublocalization of phenotypes associated with Martin-Probst deafness mental retardation syndrome.
61
|
Poloschek CM...Berger W
|
18487380 |
2008 |