1 |
GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease.
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24
57
5
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Gotoh L...Vanderver A
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24374284 |
2014 |
2 |
Expanded spectrum of Pelizaeus-Merzbacher-like disease: literature revision and description of a novel GJC2 mutation in an unusually severe form.
62
24
57
5
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Biancheri R...Filocamo M
|
22669416 |
2013 |
3 |
GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease.
62
24
57
5
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Henneke M...Gartner J
|
18094336 |
2008 |
4 |
Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination.
62
24
57
5
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Wolf NI...Woodward KJ
|
16969684 |
2007 |
5 |
Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease.
62
24
57
5
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Uhlenberg B...Gartner J
|
15192806 |
2004 |
6 |
A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease.
62
57
5
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Salviati L...Laverda A
|
17031678 |
2007 |
7 |
A new mutation in GJC2 associated with subclinical leukodystrophy.
62
24
5
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Abrams CK...Salsano E
|
25059390 |
2014 |
8 |
"Pelizaeus-Merzbacher-like disease" presenting as complicated hereditary spastic paraplegia.
62
24
5
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Zittel S...Kohlschutter A
|
22833003 |
2012 |
9 |
Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease.
62
24
5
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Combes P...Vaurs-Barriere C
|
21246605 |
2012 |
10 |
Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease.
62
24
5
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Osaka H...Inoue K
|
20695017 |
2010 |
11 |
Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease.
62
24
57
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Henneke M...Brockmann K
|
20513814 |
2010 |
12 |
GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.
62
24
57
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Bugiani M...Zeviani M
|
16707726 |
2006 |
13 |
Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease.
62
5
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Orthmann-Murphy JL...Scherer SS
|
17344063 |
2007 |
14 |
Pelizaeus-Merzbacher-like disease: female case report.
62
5
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Nezu A...Kawanishi C
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8733901 |
1996 |
15 |
NGS in Hereditary Ataxia: When Rare Becomes Frequent.
5
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Galatolo D...Santorelli FM
|
34445196 |
2021 |
16 |
Hypomyelinating leukodystrophies in adults: Clinical and genetic features.
5
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Di Bella D...Salsano E
|
33190326 |
2021 |
17 |
Exome sequencing & homozygosity mapping for identification of genetic aetiology for spastic ataxia in a consanguineous family.
5
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Dalal A...Phadke SR
|
26354221 |
2015 |
18 |
Pelizaeus-Merzbacher-Like Disease in a Family With Variable Phenotype and a Novel Splicing GJC2 Mutation.
62
24
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Al-Yahyaee SA...Chand P
|
23143715 |
2013 |
19 |
A novel homozygous mutation of GJC2 derived from maternal uniparental disomy in a female patient with Pelizaeus-Merzbacher-like disease.
62
24
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Shimojima K...Yamamoto T
|
23684670 |
2013 |
20 |
The distribution and functional properties of Pelizaeus-Merzbacher-like disease-linked Cx47 mutations on Cx47/Cx47 homotypic and Cx47/Cx43 heterotypic gap junctions.
62
24
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Kim MS...Bai D
|
23544880 |
2013 |
21 |
Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease.
62
24
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Kammoun Jellouli N...Tunisian Network on Mental Retardation Study
|
23142375 |
2013 |
22 |
Promoter mutation is a common variant in GJC2-associated Pelizaeus-Merzbacher-like disease.
62
24
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Meyer E...Maher ER
|
21959080 |
2011 |
23 |
Pathologic and phenotypic alterations in a mouse expressing a connexin47 missense mutation that causes Pelizaeus-Merzbacher-like disease in humans.
62
24
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Tress O...Willecke K
|
21750683 |
2011 |
24 |
Magnetic resonance imaging pattern recognition in hypomyelinating disorders.
62
24
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Steenweg ME...van der Knaap MS
|
20881161 |
2010 |
25 |
Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction.
62
24
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Diekmann S...Gartner J
|
20442743 |
2010 |
26 |
Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease.
62
24
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Wang J...Jiang Y
|
19423250 |
2010 |
27 |
Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations.
62
24
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Orthmann-Murphy JL...Pareyson D
|
19056803 |
2009 |
28 |
Two distinct heterotypic channels mediate gap junction coupling between astrocyte and oligodendrocyte connexins.
62
24
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Orthmann-Murphy JL...Abrams CK
|
18094232 |
2007 |
29 |
Consensus statement on preventive and symptomatic care of leukodystrophy patients.
24
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Van Haren K...GLIA Consortium
|
25577286 |
2015 |
30 |
A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephelopathies.
24
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Parikh S...GLIA Consortium
|
25655951 |
2015 |
31 |
A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.
24
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Simons C...Vanderver A
|
23582646 |
2013 |
32 |
Cx32 and Cx47 mediate oligodendrocyte:astrocyte and oligodendrocyte:oligodendrocyte gap junction coupling.
24
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Wasseff SK...Scherer SS
|
21396451 |
2011 |
33 |
Oligodendrocytes in mouse corpus callosum are coupled via gap junction channels formed by connexin47 and connexin32.
24
|
Maglione M...Kettenmann H
|
20468052 |
2010 |
34 |
GJC2 missense mutations cause human lymphedema.
24
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Ferrell RE...Finegold DN
|
20537300 |
2010 |
35 |
Genetic and physiological evidence that oligodendrocyte gap junctions contribute to spatial buffering of potassium released during neuronal activity.
24
|
Menichella DM...Paul DL
|
17065440 |
2006 |
36 |
Expression of connexin47 in oligodendrocytes is regulated by the Sox10 transcription factor.
24
|
Schlierf B...Wegner M
|
16822525 |
2006 |
37 |
Connexin 47 (Cx47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of Cx47 and display vacuolized myelin in the CNS.
24
|
Odermatt B...Willecke K
|
12805295 |
2003 |
38 |
Structural and functional diversity of connexin genes in the mouse and human genome.
24
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Willecke K...Sohl G
|
12108537 |
2002 |
39 |
Cell-specific expression of connexins and evidence of restricted gap junctional coupling between glial cells and between neurons.
24
|
Rash JE...Nagy JI
|
11245683 |
2001 |
40 |
A novel mutation in GJC2 associated with hypomyelinating leukodystrophy type 2 disorder.
62
|
Komachali SR...Salehi M
|
35794704 |
2022 |
41 |
Activation of the unfolded protein response by Connexin47 mutations associated with Pelizaeus-Merzbacher-like disease.
62
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Flores-Obando RE...Abrams CK
|
35276347 |
2022 |
42 |
Pelizaeus-Merzbacher-Like Disease 1 Caused by a Novel Mutation in GJC2 Gene: A Case Report.
62
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Javadikooshesh S...Ebadi N
|
34840390 |
2021 |
43 |
Distinct pathogenic mechanisms of various RARS1 mutations in Pelizaeus-Merzbacher-like disease.
62
|
Li G...Zhou XL
|
33515434 |
2021 |
44 |
Investigating oligodendrocyte connexins: Heteromeric interactions between Cx32 and mutant or wild-type forms of Cx47 do not contribute to or modulate gap junction function.
62
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Abrams CK...Freidin MM
|
33835612 |
2021 |
45 |
Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.
62
|
Mahdieh N...Rabbani B
|
33547378 |
2021 |
46 |
The Leukodystrophy Spectrum in Saudi Arabia: Epidemiological, Clinical, Radiological, and Genetic Data.
62
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Alfadhel M...Tabarki B
|
34055681 |
2021 |
47 |
Novel Mutations in NPC1 are Associated with Pelizaeus-Merzbacher-Like Disease: A Case Report.
62
|
Fu H...Liu H
|
33727856 |
2021 |
48 |
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
62
|
Ashrafi MR...Tavasoli AR
|
31829048 |
2020 |
49 |
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).
62
|
Llaci L...Rangasamy S
|
31748968 |
2019 |
50 |
Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.
62
|
Yan H...Wolf NI
|
31587869 |
2019 |