1 |
A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome.
25
6
61
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Masurel-Paulet A...Faivre L
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27256868 |
2016 |
2 |
Genetic and phenotypic diversity of NHE6 mutations in Christianson syndrome.
61
25
6
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Pescosolido MF...Morrow EM
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25044251 |
2014 |
3 |
SLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
61
25
6
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Gilfillan GD...Stromme P
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18342287 |
2008 |
4 |
A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition.
25
6
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Garbern JY...Sima AA
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20395263 |
2010 |
5 |
X linked severe mental retardation, craniofacial dysmorphology, epilepsy, ophthalmoplegia, and cerebellar atrophy in a large South African kindred is localised to Xq24-q27.
6
25
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Christianson AL...Schwartz CE
|
10528855 |
1999 |
6 |
The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature.
61
25
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Sinajon P...So J
|
27142213 |
2016 |
7 |
A novel mutation in the endosomal Na+/H+ exchanger NHE6 (SLC9A6) causes Christianson syndrome with electrical status epilepticus during slow-wave sleep (ESES).
25
61
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Zanni G...Bertini E
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24630051 |
2014 |
8 |
Christianson syndrome protein NHE6 modulates TrkB endosomal signaling required for neuronal circuit development.
25
61
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Ouyang Q...Morrow EM
|
24035762 |
2013 |
9 |
Novel SLC9A6 mutations in two families with Christianson syndrome.
61
25
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Riess A...Tzschach A
|
22931061 |
2013 |
10 |
Novel mutation in SLC9A6 gene in a patient with Christianson syndrome and retinitis pigmentosum.
61
25
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Mignot C...Burglen L
|
22541666 |
2013 |
11 |
Christianson syndrome in a patient with an interstitial Xq26.3 deletion.
25
61
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Tzschach A...Oehl-Jaschkowitz B
|
21932316 |
2011 |
12 |
Natural history of Christianson syndrome.
25
61
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Schroer RJ...Schwartz CE
|
20949524 |
2010 |
13 |
Dual degradation mechanisms ensure disposal of NHE6 mutant protein associated with neurological disease.
6
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Roxrud I...Stenmark H
|
19619532 |
2009 |
14 |
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
25
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Trump N...Scott RH
|
26993267 |
2016 |
15 |
Successful Treatment of Electrographic Status Epilepticus of Sleep With Felbamate in a Patient With SLC9A6 Mutation.
25
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Coorg R...Weisenberg JL
|
26421989 |
2015 |
16 |
Next-generation sequencing in X-linked intellectual disability.
25
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Tzschach A...Bauer P
|
25649377 |
2015 |
17 |
A loss-of-function mutation in the SLC9A6 gene causes X-linked mental retardation resembling Angelman syndrome.
25
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Takahashi Y...Saitoh S
|
21812100 |
2011 |
18 |
Na+/H+ exchanger isoform 6 (NHE6/SLC9A6) is involved in clathrin-dependent endocytosis of transferrin.
25
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Xinhan L...Kanazawa H
|
21881004 |
2011 |
19 |
Organellar Na+/H+ exchangers: novel players in organelle pH regulation and their emerging functions.
25
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Ohgaki R...Kanazawa H
|
21171650 |
2011 |
20 |
Mutation in the SLC9A6 gene is not a frequent cause of sporadic Angelman-like syndrome.
25
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Fichou Y...Bienvenu T
|
19471312 |
2009 |
21 |
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.
25
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Tarpey PS...Stratton MR
|
19377476 |
2009 |
22 |
Four Na+/H+ exchanger isoforms are distributed to Golgi and post-Golgi compartments and are involved in organelle pH regulation.
25
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Nakamura N...Kanazawa H
|
15522866 |
2005 |
23 |
Human neurons from Christianson syndrome iPSCs reveal mutation-specific responses to rescue strategies.
61
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Lizarraga SB...Morrow EM
|
33568516 |
2021 |
24 |
Novel c.1505_1509dupCTGCC pathogenic variation in a male case with Christianson syndrome.
61
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Yalcintepe S...Gurkan H
|
33278113 |
2021 |
25 |
Novel c.1505_1509dupCTGCC pathogenic variation in a male case with Christianson syndrome.
61
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Yalcintepe S...Gurkan H
|
33229925 |
2020 |
26 |
Loss of SLC9A6/NHE6 impairs nociception in a mouse model of Christianson syndrome.
61
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Petitjean H...Sharif-Naeini R
|
32569089 |
2020 |
27 |
Endosomal Acid-Base Homeostasis in Neurodegenerative Diseases.
61
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Prasad H...Rao R
|
32737755 |
2020 |
28 |
Assorted dysfunctions of endosomal alkali cation/proton exchanger SLC9A6 variants linked to Christianson syndrome.
61
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Ilie A...Orlowski J
|
32277048 |
2020 |
29 |
Xq26 duplications lead to undergrowth or overgrowth via competing pathways including GPC3/GPC4.
61
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Karna GK...Myers KA
|
31583675 |
2020 |
30 |
Epilepsy in Christianson syndrome: Two cases of Lennox-Gastaut syndrome and a review of literature.
61
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Ikeda A...Goto T
|
31879735 |
2020 |
31 |
Pathobiology of Christianson syndrome: Linking disrupted endosomal-lysosomal function with intellectual disability and sensory impairments.
61
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Kerner-Rossi M...Dobrenis K
|
29772390 |
2019 |
32 |
Functional Assessment In Vivo of the Mouse Homolog of the Human Ala-9-Ser NHE6 Variant.
61
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Ouyang Q...Morrow EM
|
31676550 |
2019 |
33 |
A Christianson syndrome-linked deletion mutation (Δ287ES288) in SLC9A6 impairs hippocampal neuronal plasticity.
61
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Gao AYL...McKinney RA
|
31175985 |
2019 |
34 |
Complex Neurological Phenotype in Female Carriers of NHE6 Mutations.
61
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Pescosolido MF...Morrow EM
|
31192222 |
2019 |
35 |
A potential gain-of-function variant of SLC9A6 leads to endosomal alkalinization and neuronal atrophy associated with Christianson Syndrome.
61
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Ilie A...Orlowski J
|
30296617 |
2019 |
36 |
A novel splicing mutation in SLC9A6 in a boy with Christianson syndrome.
61
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Ieda D...Saitoh S
|
30937176 |
2019 |
37 |
Electrical status epilepticus in sleep, a constitutive feature of Christianson syndrome?
61
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Mathieu ML...Lesca G
|
30126759 |
2018 |
38 |
Amyloid clearance defect in ApoE4 astrocytes is reversed by epigenetic correction of endosomal pH.
61
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Prasad H...Rao R
|
29946028 |
2018 |
39 |
The Na+(K+)/H+ exchanger Nhx1 controls multivesicular body-vacuolar lysosome fusion.
61
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Karim MA...Brett CL
|
29212874 |
2018 |
40 |
Christianson Syndrome
61
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Morrow EM...Pescosolido MF
|
29334451 |
2018 |
41 |
Syndrome of X linked intellectual disability, epilepsy, progressive brain atrophy and large head associated with SLC9A6 mutation.
61
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Padmanabha H...Singhi P
|
29275387 |
2017 |
42 |
Mixed Neurodevelopmental and Neurodegenerative Pathology in Nhe6-Null Mouse Model of Christianson Syndrome.
61
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Xu M...Morrow EM
|
29349289 |
2017 |
43 |
A Christianson syndrome-linked deletion mutation (∆(287)ES(288)) in SLC9A6 disrupts recycling endosomal function and elicits neurodegeneration and cell death.
61
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Ilie A...Orlowski J
|
27590723 |
2016 |
44 |
Exonic deletion of SLC9A9 in autism with epilepsy.
61
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Cardon M...Holder JL
|
27123481 |
2016 |
45 |
X-linked Christianson syndrome: heterozygous female Slc9a6 knockout mice develop mosaic neuropathological changes and related behavioral abnormalities.
61
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Sikora J...Walkley SU
|
26515654 |
2016 |
46 |
Christianson syndrome: spectrum of neuroimaging findings.
61
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Bosemani T...Poretti A
|
24285247 |
2014 |
47 |
Genetic disorders associated with postnatal microcephaly.
61
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Seltzer LE...Paciorkowski AR
|
24839169 |
2014 |
48 |
If not Angelman, what is it? A review of Angelman-like syndromes.
61
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Tan WH...Williams CA
|
24779060 |
2014 |
49 |
Inaugural Christianson Syndrome Association conference: families meeting for the first time.
61
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Stein DM...Morrow EM
|
25273398 |
2014 |
50 |
X-linked Angelman-like syndrome caused by Slc9a6 knockout in mice exhibits evidence of endosomal-lysosomal dysfunction.
61
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Stromme P...Walkley SU
|
21964919 |
2011 |