| 1 |
Int22h1/Int22h2-mediated Xq28 duplication syndrome: de novo duplications, prenatal diagnoses, and additional phenotypic features.
25
|
Ballout RA...El-Hattab AW
|
32112660 |
2020 |
| 2 |
Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease.
25
|
Lesage S...French Parkinson's Disease Genetics Study Group (PDG) and the International Parkinson's Disease Genomics Consortium (IPDGC)
|
27066548 |
2015 |
| 3 |
The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition.
25
|
Mignogna ML...D'Adamo P
|
25784538 |
2015 |
| 4 |
Clinical characterization of int22h1/int22h2-mediated Xq28 duplication/deletion: new cases and literature review.
25
|
El-Hattab AW...Cheung SW
|
25927380 |
2015 |
| 5 |
Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.
25
|
Wilson GR...Lockhart PJ
|
25434005 |
2014 |
| 6 |
Xq28 duplication overlapping the int22h-1/int22h-2 region and including RAB39B and CLIC2 in a family with intellectual and developmental disability.
25
|
Andersen EF...Lamb AN
|
24700761 |
2014 |
| 7 |
Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains.
25
|
Vanmarsenille L...Froyen G
|
24357492 |
2014 |
| 8 |
Intron 22 homologous regions are implicated in exons 1-22 duplications of the F8 gene.
25
|
Lannoy N...Hermans C
|
23299923 |
2013 |
| 9 |
An X-linked channelopathy with cardiomegaly due to a CLIC2 mutation enhancing ryanodine receptor channel activity.
25
|
Takano K...Dulhunty AF
|
22814392 |
2012 |
| 10 |
Int22h-1/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions.
25
|
El-Hattab AW...Cheung SW
|
21984752 |
2011 |
| 11 |
Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
25
|
Giannandrea M...D'Adamo P
|
20159109 |
2010 |
| 12 |
CLIC2-RyR1 interaction and structural characterization by cryo-electron microscopy.
25
|
Meng X...Yin CC
|
19356589 |
2009 |
| 13 |
Rab GTPases and their roles in brain neurons and glia.
25
|
Ng EL...Tang BL
|
18485483 |
2008 |
| 14 |
Polymorphism and hemophilia A causing inversions in distal Xq28: a complex picture.
25
|
Bagnall RD...Green PM
|
16241967 |
2005 |
| 15 |
CLIC-2 modulates cardiac ryanodine receptor Ca2+ release channels.
25
|
Board PG...Dulhunty AF
|
15147738 |
2004 |
| 16 |
Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated
61
|
Ballout RA...Cheung SW
|
26962617 |
2016 |
